HPO J~All(Abnormality of body height*Multicystic kidney dysplasia!Mode of inheritance,Autosomal dominant inheritance-Autosomal recessive inheritance>0Abnormal morphology of female internal genitalia3 %Functional abnormality of the bladder0 "Recurrent urinary tract infections Neurogenic bladder Urinary urgency& Hypoplasia of the uterus(Abnormality of the bladder"Bladder diverticulumUrinary retentionNocturiaUrinary hesitancy"Urinary incontinence Megacystis9+Abnormal male internal genitalia morphologyInguinal hernia Prostatitis?1Functional abnormality of male internal genitaliaMale hypogonadism AzoospermiaCryptorchidism Testicular atrophy'Testicular gonadoblastoma Epididymitis9 +Abnormal male external genitalia morphology'!Ambiguous genitalia, male"Hydrocele testis(#Abnormal testis morphology'$Abnormal penis morphology(%Male pseudohermaphroditism' Epispadias( Long penis)Chordee'*Absent external genitalia+,Hypogonadotropic hypogonadism)-Abnormal scrotum morphology. Small scrotum/ Hypospadias0 Bifid scrotum1 Shawl scrotum12#Hypoplastic male external genitalia"3Perineal hypospadias$4Urethral atresia, male5Macroorchidism6 Micropenis;7-Abnormal female external genitalia morphology*8Abnormal clitoris morphology$9obsolete Clitoromegaly!':Abnormal labia morphology&;Hypoplastic labia majora!<Clitoral hypoplasia)=Ambiguous genitalia, female!>Ambiguous genitalia ?Fused labia minora&@Hypoplastic labia minora ALabial hypertrophyBLabial hypoplasia&CUrethral atresia, femaleDUrethral atresia'EAbnormality of the ureterF UreteroceleGUreteral stenosisH Hydroureter"IUreteral duplication0J"Ureteropelvic junction obstructionKRenal duplication#LVesicoureteral reflux'MAbnormality of the kidney/N!Abnormality of the genital system/O!Abnormality of the urinary system;P-Abnormality of reproductive system physiology*QDuplicated collecting system!SRenal insufficiencyUHorseshoe kidneyVEctopic kidneyYRenal hypoplasiaZNephronophthisis.[ Abnormal renal tubule morphology#\Renal tubular atrophy] Proteinuria2_$Abnormal renal glomerulus morphology"`Glomerular sclerosis0a"Focal segmental glomerulosclerosisb Tall stature cGlomerulonephritis dNephrotic syndromegPolyuriahRenal agenesisiEnlarged kidneyk Renal cyst*lRenal corticomedullary cystsnRenal dysplasia@o2Renal juxtaglomerular cell hypertrophy/hyperplasiap Nephropathy)qPolycystic kidney dysplasia"rProximal tubulopathy%uRenal phosphate wasting$vPhenotypic abnormality5w'Abnormality of the genitourinary systemyNephrocalcinosis'zUnilateral renal agenesis{ Nephritis'|Renal tubular dysfunction} Pelvic kidney~Hydronephrosis Renal salt wasting%Renal potassium wasting'Abnormality of the uterusUterine leiomyoma Menorrhagia Gonadal dysgenesis!Female hypogonadism Hypogonadism Bifid uterus&Abnormality of the ovary Ovarian cystUterine prolapse0"Abnormality of the menstrual cycle Amenorrhea(Abnormal vagina morphology"Rectovaginal fistula!Decreased fertility'Transverse vaginal septum Polycystic ovariesVaginal atresia$Ovarian gonadoblastomaGonadoblastoma#Aplasia of the uterus)Abnormality of head or neck&Abnormality of the mouth Wide mouth Oral ulcer'Abnormality of the tongue Macroglossia%Abnormal lip morphology Narrow mouth$Median cleft upper lip Glossoptosis-Abnormal oral cavity morphology*Abnormality of the dentition"Severe periodontitis(Abnormality of the gingiva#Gingival fibromatosis Microglossia'Abnormal uvula morphology(Abnormal palate morphology Cleft palate)Submucous cleft hard palate+Abnormal upper lip morphology+Abnormal lower lip morphology'Thick lower lip vermilionLobulated tongue0"Movement abnormality of the tongue$Tongue muscle weaknessCleft soft palate#Broad alveolar ridgesShort upper lip Narrow palate/!Abnormal oral frenulum morphology%Accessory oral frenulum Bifid uvula Open mouth Lower lip pit/!Abnormal parotid gland morphology%Absence of Stensen ductTongue nodules$Short lingual frenulum#Pierre-Robin sequenceOrofacial cleftCleft upper lip Pursed lips GlossitisTriangular mouthTrismus!Gingival overgrowth Lip telangiectasia'Thick upper lip vermilion,Broad secondary alveolar ridge Xerostomia High palate&Thin upper lip vermilion*Velopharyngeal insufficiencyFurrowed tongue%Gingival hyperkeratosis,Abnormality of taste sensation HypogeusiaGingival bleeding#Tongue telangiectasia(Oral cavity telangiectasia Gingivitis)Everted lower lip vermilion#Thin vermilion border%Abnormality of the head;-Abnormal cranial suture/fontanelle morphology5'Abnormal anterior fontanelle morphology'Small anterior fontanelle HydrocephalusLarge fontanelles'Abnormality of skull sizeParietal bossingTrigonocephaly Brachyturricephaly1#Abnormal paranasal sinus morphology Sinusitis BrachycephalyDense calvaria Microcephaly&Progressive microcephalyAcute sinusitis Macrocephaly$Wide anterior fontanel Turricephaly Oxycephaly)Abnormal mastoid morphology Mastoiditis Cranial asymmetry Dolichocephaly Prominent occiput,Delayed cranial suture closure%Abnormality of the faceMalar flatteningFacial grimacing Small face Narrow face Long face*Abnormal mandible morphology Retrognathia$Coarse facial features Facial edema Broad face7)obsolete Abnormality of the ocular region; Epicanthus-Increased facial adipose tissue) Abnormality of the philtrum!Broad philtrum)"Abnormality of the forehead2#$Abnormality of facial adipose tissue+$Loss of facial adipose tissue% Full cheeks#&Low anterior hairline'Doll-like facies)Facial hypotonia*Mask-like facies, Oval face/-!Abnormality of facial musculature#/Mandibular prognathia%2Abnormality of the chin3 Pointed chin4Microretrognathia)5Abnormal midface morphology7 Round face/;!Abnormality of the orbital region< Hypertelorism=Facial myokymia?Smooth philtrum@Bird-like faciesA Square faceBShort philtrumDFacial asymmetryETriangular face)FAbnormal maxilla morphology'GHypoplasia of the maxillaIFacial hemangiomaK Short chin+PProminent supraorbital ridgesQBroad foreheadRHypomimic faceSPugilistic faciesTSloping foreheadUNarrow foreheadW Long philtrum"ZWhistling appearance[ Micrognathia\ High forehead] Widow's peak^Small forehead*dAbnormality of the outer ear'eAbnormal location of ears&fPosteriorly rotated ears*gAbnormality of the inner earhTinnitusBi4obsolete Pulsatile tinnitus (tympanic paraganglioma)!j Otosclerosis)kAbnormal earlobe morphology!lHearing abnormality mHearing impairment%nAbnormality of the nose8p*obsolete Low-set, posteriorly rotated earsfq Low-set ears+rAbnormality of the middle ear sAcute otitis media0t"Abnormal auditory canal morphology)wAbnormal cochlea morphology9x+Incomplete partition of the cochlea type II'yAbnormal pinna morphologyz Cupped ear}Stapes ankylosis6(Abnormal periauricular region morphology#Preauricular skin tag Small earlobeAbsent earlobe Otitis media"Chronic otitis mediaThickened helicesLop ear!Prominent antihelixOverfolded helix9+Prelingual sensorineural hearing impairmentMacrotia5'Stenosis of the external auditory canal$Recurrent otitis media+Conductive hearing impairment. Sensorineural hearing impairment:,Progressive sensorineural hearing impairment&Mixed hearing impairmentProtruding ear4&Atresia of the external auditory canal Bulbous nose)Abnormal choanae morphology Slender nose Narrow nasal ridge. Abnormal nasal septum morphology Short nasal septum Epistaxis. Abnormal nasal bridge morphology$Prominent nasal bridge3%Abnormal morphology of the nasal alae'Underdeveloped nasal alaeWide nasal bridge. Abnormal nasal mucosa morphology)Nasal mucosa telangiectasia+Abnormal nasal tip morphology!Depressed nasal tip Convex nasal ridge Wide nose!Narrow nasal bridgePear-shaped noseProminent nose"Triangular nasal tipChoanal stenosisChoanal atresiaFlared nostrilsBroad nasal tipBifid nasal tip#Depressed nasal ridgeAnosmia Narrow noseAnteverted nares%Abnormality of the neck Webbed neck*Limited neck range of motion"Neck muscle weakness6(Increased adipose tissue around the neck Short neck-Gastrointestinal angiodysplasia Long neck Torticollis(Thickened nuchal skin fold Broad neckCystic hygroma$Abnormality of the eye)Abnormal retinal morphologyRetinal coloboma(Abnormal cornea morphology Microcornea Astigmatism#Hyperopic astigmatism Megalocornea Strabismus,obsolete Congenital strabismus Retinopathy<.obsolete Abnormality of globe location or sizeDeeply set eye Keratitis(Abnormal eyelid morphology(Abnormal foveal morphology,Downslanted palpebral fissures(Recurrent corneal erosions)Abnormality of eye movement9+Globe retraction and deviation on abduction Blepharitis)Abnormal eyelash morphologyGlaucoma-Abnormal conjunctiva morphology0"Tortuosity of conjunctival vessels#Abnormality of visionVisual impairment TelecanthusPtosisConjunctivitis Rod-cone dystrophy. Vertical supranuclear gaze palsy(Abnormal electroretinogram)Slow saccadic eye movements&Abnormal lens morphologyCataract$Developmental cataract Proptosis Alacrima" Subcapsular cataract) Conjunctival telangiectasia) Abnormality iris morphologyAniridiaLong eyelashes Anophthalmia%Progressive visual lossCorneal crystals/!Abnormal chorioretinal morphology#Chorioretinal atrophy)Abnormal eyebrow morphology. obsolete Sparse and thin eyebrow!Epicanthus inversusPseudopapilledema'Abnormality of refraction Hypermetropia Retinal detachment'Impaired ocular adductionOptic disc pallor& External ophthalmoplegia!Myopia""Retinal degeneration1##obsolete Tapetoretinal degeneration%$Cone/cone-rod dystrophy-%Abnormal conjugate eye movement,&Undetectable electroretinogram!'Color vision defect( Tritanomaly&)Abnormal uvea morphology*Uveitis+ Leukocoria,Retinal dystrophy- Buphthalmos.Rieger anomaly/Corneal scarring1Absent eyelashes3 Keratoconus#4Lacrimal duct atresia5 Esotropia$7Chorioretinal coloboma8Microphthalmia-:Abnormal saccadic eye movements!;Hypometric saccades< Visual loss =Retinal hemorrhage> Thick eyebrow?Scotoma!@Centrocecal scotomaA Exotropia+CNasolacrimal duct obstruction$DPigmentary retinopathyEBlepharophimosis)FUpslanted palpebral fissure2H$Punctate corneal epithelial erosionsIBand keratopathyJShallow orbits-KAbnormal optic nerve morphology!LOptic disc colobomaMColoboma2N$Progressive external ophthalmoplegia(OAbnormal sclera morphologyP Blue sclerae2Q$Abnormal anterior chamber morphology&RShallow anterior chamberUOphthalmoparesis$VAbnormality of the ear1W#Abnormality of the frontal hairline(XAbnormality of the pharynxY HypotelorismZOphthalmoplegia[Central scotoma%]Supranuclear gaze palsy3^%Abnormality of the periorbital region"_Periorbital wrinkles"`Macular degeneration$aOptic nerve hypoplasia)bAbnormal choroid morphology'cobsolete Choroid coloboma7d Iris colobomae Photophobia5f'Abnormal nasolacrimal system morphology'gAbnormal pupil morphologyhMiosis2i$Abnormality of ocular smooth pursuitj Blindness"kImpaired convergencelDacryocystitism EntropionnBlurred vision*oSupranuclear ophthalmoplegiaqEyelid coloboma#sPosterior embryotoxon"uPeriorbital fullness0v"Abnormal retinal artery morphology)wRetinal arterial tortuosity%xLacrimation abnormality#yDecreased lacrimation'zImpaired ocular abduction{ Blue irides#|Upper eyelid coloboma$}Long palpebral fissure Nystagmus#Gaze-evoked nystagmus Dysmetric saccades'Red-green dyschromatopsia Blepharospasm Amblyopia Sclerocornea Optic atrophy5'Abnormality of visual evoked potentialsM?Abnormal amplitude of pattern reversal visual evoked potentialsDiplopia#Lower eyelid colobomaSparse eyelashesK=Decreased light- and dark-adapted electroretinogram amplitude1#obsolete Vitreoretinal degeneration] Ectropion Oculomotor apraxiaEyelid apraxiaPeters anomalyLipemia retinalis6(Palpebral fissure narrowing on adduction Nyctalopia Synophrys"Horizontal nystagmusPhthisis bulbi Hypodontia Carious teeth Anodontia@2Macrodontia of permanent maxillary central incisor(Abnormality of the incisor OligodontiaDental crowding Taurodontia/!Delayed eruption of primary teeth/!Abnormal dental enamel morphologyGrayish enamel'Delayed eruption of teeth!Hypoplasia of teeth!Widely spaced teeth!Dental malocclusion3%Agenesis of maxillary lateral incisor MicrodontiaTooth malpositionOdontodysplasia Natal tooth1#Delayed eruption of permanent teeth Conical toothDiastema"Periapical bone loss'Dentinogenesis imperfecta Periodontitis%Amelogenesis imperfectaEruption failure/!Abnormality of the nervous systemAtypical behavior Psychosis Hyperorality Restlessness Emotional lability Agitation DepressionAutism!Aggressive behavior$Inappropriate behavior"obsolete Mood swings&Lack of spontaneous play"Compulsive behaviors"Restrictive behavior Psychotic episodesDementia#Frontal lobe dementia9+Impaired ability to form peer relationshipsAutistic behavior. Inflexible adherence to routinesMotor stereotypy Disinhibition3%obsolete Impaired social interactions1"Short attention span IrritabilityHallucinationsAnxiety)Episodic paroxysmal anxietyApathySelf-mutilation#Frontal release signs'Low frustration tolerance*Abnormal diminished volitionDelusion$Inappropriate laughter+Paroxysmal bursts of laughter5'Delayed speech and language development!Personality changes Hyperactivity2$Autism with high cognitive abilities AgoraphobiaLack of insight7)Abnormal nonverbal communicative behavior;-Abnormal peripheral nervous system morphology1#Decreased nerve conduction velocity Sensory neuropathy,Peripheral axonal degeneration(Abnormal thorax morphology)Abnormal sternum morphologyPectus excavatumPectus carinatum'Abnormality of the breast Gynecomastia%Abnormal rib morphology Short ribs Narrow chest*Abnormality of the diaphragm-Congenital diaphragmatic hernia( Abnormal thymus morphology& Hypoplasia of the thymus)Abnormal scapula morphology Primary amenorrheaNephrolithiasis Infertility Hematuria'Uric acid nephrolithiasis6(Membranoproliferative glomerulonephritis. IgA deposition in the glomerulus(Abnormality of the urethra"Urethral obstructionOligozoospermiaRenal steatosis$ Cystic renal dysplasia" Impotence"#Renal cortical cysts&$Xanthine nephrolithiasis%Enuresis#'Glandular hypospadias%(Penoscrotal hypospadias#)Urinary tract atresia)+Abnormal external genitalia),Abnormal internal genitalia-Bicornuate uterus,/Hypergonadotropic hypogonadism30%Abnormality of Krebs cycle metabolism!1Reduced eye contact12#Abnormality of the endocrine system3Diabetes mellitus.4 Abnormality of the thyroid gland5Hypothyroidism6 Hypertension7Delayed pubertyC85Decreased response to growth hormone stimulation test+9Hyperinsulinemic hypoglycemia :Precocious puberty2<$Abnormality of the parathyroid gland =Hypoparathyroidism&>Anterior hypopituitarism1?#Insulin-resistant diabetes mellitus$@Primary hypothyroidism*Aobsolete Glucose intolerance/B!Abnormality of the adrenal glands CAdrenal hypoplasiaDHyperthyroidism6E(Increased circulating gonadotropin level GPituitary dwarfism$HAdrenogenital syndrome2I$Hyperactive renin-angiotensin systemJHyperinsulinemia!KHyperparathyroidism?M1Elevated circulating growth hormone concentration#NAdrenal insufficiency5O'Abnormality of renin-angiotensin system7P)Increased circulating renin concentration(QAdrenocortical abnormality'SCongenital hypothyroidism&TPseudohypoparathyroidismUGoiterVThyroid adenoma WInsulin resistance:Y,Neonatal insulin-dependent diabetes mellitus$ZIrregular menstruation=[/Increased circulating aldosterone concentration$\Parathyroid hypoplasia(_Central diabetes insipidus<`.Abnormality of the hypothalamus-pituitary axis+bEuthyroid multinodular goiter+cSecondary hyperparathyroidism,dDecreased fertility in females"eSecondary amenorrhea;f-Increased circulating prolactin concentration gPanhypopituitarism#hHashimoto thyroiditis iDiabetes insipidus#kEpisodic hypertensionlOligomenorrhea<m.Insulin-resistant diabetes mellitus at pubertyn11 pairs of ribso Short sternum"rHypoplastic scapulaes Thin ribstProminent sternumu Broad ribsvDeformed rib cagew Cupped ribsxHorizontal ribs*yAbnormal clavicle morphologyzLong clavicles{ Cervical ribs| Bifid ribs3}%Bulging of the costochondral junction~Short clavicles#Lateral clavicle hook Rib exostosesRachitic rosaryThickened ribs Rib fusion!Flaring of rib cage3%Progressive clavicular acroosteolysis"Anterior rib cupping1#Wide-cupped costochondral junctions Flat glenoid fossaSprengel anomaly"Posterior rib fusion Shield chest2$Pectus excavatum of inferior sternumBroad clavicles'Superior pectus carinatum Scapular exostoses7)Abnormality of the costochondral junction7)Enlargement of the costochondral junction Missing ribs#Posterior rib cupping"obsolete Beaded ribs0"Abnormality of the skeletal system1#Abnormality of the vertebral column Platyspondyly0"Abnormality of skeletal maturation'Abnormal skull morphology8*Elevated imprint of the transverse sinuses?1Thinning and bulging of the posterior fossa bones9+Abnormal posterior cranial fossa morphology:,Posterior fossa cyst at the fourth ventricleChondrocalcinosis,Thickened cortex of long bones Osteopenia Osteoporosis+Abnormal diaphysis morphologyShort diaphyses"Dysostosis multiplex,Abnormal metaphysis morphologyHypoplastic ilia'Dumbbell-shaped long bone%Abnormality of the skinJaundice+Hyperpigmentation of the skin-Single transverse palmar crease"Acanthosis nigricansCafe-au-lait spotDry skin Sacral dimpleCyanosisHyperkeratosis Thin skin#Eczematoid dermatitisCutis marmorata Hypohidrosis Petechiae"Ectodermal dysplasiaEdema Anhidrosis-Abnormal sweat gland morphology)Palmoplantar hyperkeratosis Cutis laxa"Hyperextensible skin Hyperhidrosis,obsolete Eczematoid dermatitis Soft skin%Bruising susceptibilityPurpuraPallor&Palmoplantar keratoderma'Atypical scarring of skin Skin rashPruritus Xanthomatosis(Cutaneous photosensitivity%Molluscoid pseudotumorsMelanocytic nevus)Facial capillary hemangioma Axillary frecklingHypertrichosisPyoderma. Abnormality of skin pigmentation4&Abnormality of subcutaneous fat tissue1#obsolete Decreased subcutaneous fat!Multiple lentigines LymphedemaA3Dermatological manifestations of systemic disorders$obsolete Hypotrichosis Hirsutism8*Accumulation of melanosomes in melanocytesTelangiectasia*Hypopigmentation of the skin:,obsolete Diaphoresis (with pheochromocytoma)Multiple lipomas Eruptive xanthomas Angiokeratoma)Prominent superficial veins Anemic pallor-Abnormal palmar dermatoglyphics ErythrodermaAlbinism;-Skin dimple over apex of long bone angulation Urticaria%Penetrating foot ulcersSoft, doughy skin Hemangioma Poikiloderma Fragile skin!Subcutaneous lipoma3%Absent distal interphalangeal creases2 $Facial flushing after alcohol intake# Hypermelanotic macule Parakeratosis,Warfarin-induced skin necrosis%Atheroeruptive xanthomaMultiple pterygiaFacial erythema"High axial triradius#Prominent scalp veinsVitiligo#Intermittent jaundiceAtopic dermatitis"Cavernous hemangioma=/Absent dorsal skin creases over affected jointsPlethora#Seborrheic dermatitisNevus flammeus(Hypopigmented skin patches Numerous nevi Erysipelas Milia%!Aplasia cutis congenita "Poor wound healing# Pterygium $Axillary pterygium%Acne&Atypical nevus' Acrocyanosis)Striae distensae+ Neurofibroma$-Episodic hyperhidrosis".Mottled pigmentation-/Angiokeratoma corporis diffusum0Thickened skin#1Cigarette-paper scars42&Atypical nevi in non-sun exposed areas3Atrophic scars"4Glabellar hemangioma'8Biliary tract abnormality9Cholelithiasis: Cholecystitis;Ectopia lentis< Corneal arcus= Papilledema$?Developmental glaucoma@Brushfield spotsA Iris atrophy$BAbnormally large globe%DAbsent lacrimal punctum#EOptic nerve dysplasiaF Iridocyclitis&GHypertensive retinopathy"HKeratoconjunctivitis(IKeratoconjunctivitis sicca(JAbnormal fundus morphologyKFundus atrophy"LHeterochromia iridisMIritis+NAngioid streaks of the fundus)OAbnormal macular morphology PMacular hypoplasiaQRetinal atrophy+RPeriorbital hyperpigmentationSOcular albinism!XLeber optic atrophy&Yobsolete Early cataractsZ Xanthelasma&[Posterior polar cataract\Macular coloboma*]Sudden loss of visual acuity^Juvenile cataract_ Keratoglobus)`Abnormality of corneal size8b*obsolete Aplasia/Hypoplasia of the choroid!cVisual field defect5e'Transient unilateral blurring of visionfCryptophthalmosh Trichiasis/i!Large central visual field defectkCorneal dystrophylLens subluxation5m'Constriction of peripheral visual field%nAnterior polar cataract%oChorioretinal dystrophy+pRetinal arteriolar tortuosity#qAlternating esotropiarOptic neuropathys ChoroideremiatLimbal dermoid,uSeverely reduced visual acuityv Lenticonusx Orbital cyst(yobsolete Chorioretinopathy6z(obsolete Pigmentary retinal degenerationD{Retinal exudate'}Lattice corneal dystrophy*~obsolete Choroidal sclerosis0"Impaired horizontal smooth pursuit%Saccadic smooth pursuitSeptate vagina%Abnormality of the hand Brachydactyly SyndactylyHand polydactyly(Postaxial hand polydactyly:,obsolete Abnormality of the metacarpal bonesArachnodactyly(Abnormal finger morphology Broad palm Split hand'Abnormal thumb morphology Large hands'Preaxial hand polydactyly Ulnar claw(obsolete Hand oligodactyly$Adducted thumbTapered finger5'Hyperextensibility of the finger jointsHand clenching(Abnormal carpal morphologyC5Ulnar deviation of the hand or of fingers of the hand9+Abnormalities of placenta or umbilical cord%Single umbilical artery"Short umbilical cord:,Abnormality of prenatal development or birth!Triphalangeal thumb+Distal symphalangism of hands+Abnormal fingertip morphology&Prominent fingertip pads. Camptodactyly of 2nd-5th fingers2$Delayed ossification of carpal bonesClubbingAutoamputation9+Interphalangeal joint contracture of fingerSpatulate thumbs?1Pointed proximal second through fifth metacarpalsWrist swelling]Oobsolete Acral ulceration and osteomyelitis leading to autoamputation of digits0"Abnormality of the thenar eminenceBroad metacarpals,Abnormal fingernail morphology%Nail bed telangiectasia-2-3 finger cutaneous syndactylyHitchhiker thumbSlender finger'Wrist flexion contracture$Capitate-hamate fusion#Small thenar eminence-Short tubular bones of the hand%Intellectual disabilitySeizureAtaxia HypotoniaLethargy+Intellectual disability, mild Spasticity Spastic paraplegiaComa Dysarthria*Excessive daytime somnolence(Global developmental delaySpastic diplegia HyporeflexiaChoreoathetosis"Mental deterioration Hemiparesis Motor delayPolyneuropathy Cerebellar atrophy1#Abnormal corpus callosum morphology)Agenesis of corpus callosum Hypertonia%Orthostatic hypotensionSyncopeTetany Bulbar palsy Areflexia"Spastic tetraparesis MeningitisGait disturbance Confusion# Generalized hypotonia/ !Abnormal cranial nerve morphology' Cranial nerve compressionStrokeEncephalopathy Parkinsonism2$Chronic sensorineural polyneuropathy PachygyriaTorsion dystonia'Dandy-Walker malformation#Tongue fasciculations Dysmetria7)Abnormal nervous system electrophysiology3 %Giant somatosensory evoked potentials%#Reduced tendon reflexes,%Abnormal cerebellum morphology 'Neonatal hypotonia*(Cerebellar vermis hypoplasia#)Cerebellar hypoplasia'*obsolete Brain very small,Muscle weakness-Hypoglycemic comaE.7EEG with irregular generalized spike and wave complexes./ Photosensitive myoclonic seizure*0Specific learning disability&3Absent septum pellucidum4Dystonia)6Communicating hydrocephalus!7Bimanual synkinesia8 Myoclonus9Tremor5:'Partial agenesis of the corpus callosum; Lissencephaly)<Enhancement of the C-reflex%=Olfactory lobe agenesis!>Cerebral hemorrhage? Kernicterus@ Absent speech!APsychotic mentationC HyperreflexiaDBrisk reflexesEFacial diplegiaFSlurred speech-GJerk-locked premyoclonus spikesKMegalencephalyM PlagiocephalyPHoloprosencephaly,QNystagmus-induced head nodding$RCalvarial skull defectSCraniosynostosis'WAbnormal joint morphologyY Arthritis"ZRheumatoid arthritis![Flexion contracture]Joint dislocation(^Congenital hip dislocation*`Limitation of joint mobility%aLimited elbow extension1c#obsolete Degenerative joint disease )dobsolete Ligamentous laxityf!fJoint hypermobility+hAbnormal hip joint morphologyi Hip dysplasiajJoint swellingkJoint stiffness#lobsolete Joint laxityf&pAbnormality of the liverr CirrhosissHepatic fibrosist CholestasisuHepatic steatosiswHepatic failure@x2obsolete Hepatic abscesses due to immunodeficiency-yIntrahepatic biliary dysgenesis&zHepatocellular carcinoma.{ Macrovesicular hepatic steatosis%|Hepatocellular necrosis!}Periportal fibrosis&~Intrahepatic cholestasis Hepatic cysts%Bile duct proliferation!Portal hypertension&Decreased liver function#Enteroviral hepatitis$Micronodular cirrhosis. Microvesicular hepatic steatosis"X-linked inheritance,X-linked recessive inheritance8*Abnormality of the musculature of the hand+X-linked dominant inheritance$obsolete Heterogeneous'Non-Mendelian inheritance'Mitochondrial inheritance'obsolete Somatic mutation2$Abnormal calf musculature morphology Hepatosplenomegaly<.Abnormality of the shoulder girdle musculature1#Abnormality of the foot musculature?1Abnormality of the musculature of the lower limbs)Abnormal abdomen morphology#Metatarsal synostosis6(Abnormality thigh musculature morphology+Typified by somatic mosaicism4&Abnormality of the gluteal musculature?1obsolete Autosomal dominant somatic cell mutation7)Abnormality of the hip-girdle musculature?1Abnormality of the musculature of the upper limbs-Duplication of metatarsal bones"Y-linked inheritanceB4obsolete Autosomal dominant contiguous gene syndrome*Abnormality of the upper arm=/Abnormality of the musculature of the upper arm 1-3 toe syndactylyC5Aplasia/Hypoplasia involving the skeletal musculatureC5Aplasia/Hypoplasia involving the shoulder musculature;-Amyotrophy involving the shoulder musculature&Contiguous gene syndromeM?Aplasia/Hypoplasia involving the musculature of the upper limbsK=Aplasia/Hypoplasia involving the musculature of the upper arm;-Abnormal morphology of the pelvis musculature$Sex-limited expressionA3Aplasia/Hypoplasia of the musculature of the pelvis. obsolete Familial predisposition#Metatarsal osteolysis Sclerotic scapulae%Male-limited expression8*Delayed closure of the anterior fontanelle)Compensatory chin elevation Freckling!Subcutaneous nodule Eye poking*obsolete Hypopigmented fundiBilateral ptosis+Posterior vitreous detachment8*Congenital fibrosis of extraocular musclesAxenfeld anomaly$Falciform retinal foldCarpal osteolysis$Carpal bone hypoplasia Broad finger 6 metacarpals#Metacarpal osteolysis Growth abnormalityFailure to thrive Growth delay-Intrauterine growth retardationObesity'Small for gestational age+Disproportionate tall stature'Large for gestational ageDeath in infancy&Severe failure to thriveHemihypertrophy/!Mild postnatal growth retardation*Failure to thrive in infancy Slender buildUmbilical hernia!Protuberant abdomen OmphaloceleDiastasis rectiAscites Gastroschisis!Prominent umbilicus$ Anteriorly placed anus* Abnormal rib cage morphology Overgrowth' Abnormal ileum morphology+Abnormal umbilicus morphology!Barrel-shaped chest%Asymmetry of the thorax+Prenatal movement abnormality&Decreased fetal movement/!Abnormality of the amniotic fluidPolyhydramniosOligohydramniosFetal polyuria6(Widely-spaced maxillary central incisors%#Multiple impacted teeth$ Macrodontia+&Abnormality of the integument#'obsolete Mood changes&+Primary hypercortisolism;,-Pigmented micronodular adrenocortical disease'-Recurrent skin infections.Redundant skin/Rotary nystagmus#2Vesicovaginal fistula.3 obsolete Primary ovarian failure 7Bell-shaped thorax&8Selective tooth agenesis39%Maxillary lateral incisor microdontia&;Abnormal hair morphology<Alopecia&=Abnormal nail morphology> Concave nail'@Abnormality of the larynxALaryngomalacia BLaryngeal stenosis DVocal cord paresis"EVocal cord paralysisIF;obsolete Vocal cord paralysis (caused by tumor impingement)E!GSubglottic stenosis&HAbnormality of the voiceI Hoarse voiceKHypernasal speechLWeak cryAM3obsolete Hoarse voice (caused by tumor impingement)IO Hoarse cryR Dysphonia+TAbnormally high-pitched voiceU Weak voiceVPremature birth!WBreech presentation6Z(Abnormality of the cardiovascular system'[Abnormal heart morphology']Ventricular septal defect"_Atrial septal defect.a Abnormal mitral valve morphology#bMitral valve prolapse&cCongestive heart failure!dTetralogy of Fallot,eAbnormal myocardium morphologyfCardiomyopathy)gHypertrophic cardiomyopathyh Cardiomegaly1i#Abnormal pulmonary valve morphologyjPulmonic stenosis&kPatent ductus arteriosus$lDilated cardiomyopathy"mSudden cardiac death.n Abnormal aortic valve morphology#oBicuspid aortic valvep Cor pulmonaleq Tachycardia#rAortic valve stenosiss Dextrocardia"uMitral regurgitation-vAbnormal heart valve morphology"wPatent foramen ovale#yProlonged QT interval#zMyocardial infarction"{Aortic regurgitation |Truncus arteriosus~ Bradycardia&Ventricular fibrillation Torsade de pointes+Right ventricular hypertrophy1#Transposition of the great arteries+Asymmetric septal hypertrophy0"Abnormal cardiac septum morphology:,obsolete Tachycardia (with pheochromocytoma)q4&Complete atrioventricular canal defectK=obsolete Rhythm disturbances associated with pheochromocytoma-;-obsolete Palpitations (with pheochromocytoma)-Coronary artery atherosclerosis$Atrioventricular block(Abnormal aortic morphology"Coarctation of aortaAngina pectoris)Subvalvular aortic stenosisEctopia cordis+Secundum atrial septal defect!Myocardial fibrosis Loss of voiceSinus bradycardia2$Muscular subvalvular aortic stenosisAtrial arrhythmia Cardiac shunt!Right-to-left shuntCardiac arrest$Situs inversus totalis-Abnormal pericardium morphology"Pericardial effusion Sudden death!Myocardial necrosis Pericarditis1#Abnormal tricuspid valve morphology&Tricuspid valve prolapse8*Right ventricular outlet tract obstruction(Endocardial fibroelastosis1#Abnormal right ventricle morphology'Right ventricular failure1#Third degree atrioventricular block Conotruncal defect0"Abnormal left ventricle morphology*Left ventricular hypertrophy3%Abnormal cardiac ventricle morphology%Ventricular hypertrophy,Wolff-Parkinson-White syndrome+Coronary artery calcificationMitral stenosis+Double outlet right ventricle2$High-output congestive heart failure(Restrictive cardiomyopathy(obsolete Aortic dilatationN?1obsolete Increased prevalence of valvular disease#Thromboembolic stroke,Progressive hearing impairment)Abnormality of the pancreas PancreatitisAnnular pancreas Acute pancreatitisPancreatic cysts/!Exocrine pancreatic insufficiency-Abnormal nasopharynx morphologyPhimosisNasal congestion'Abnormality of the spleen SplenomegalyAspleniaAccessory spleen PolyspleniaSingle ventricle*Abnormal vestibular function%Vestibular hyporeflexia=/High-frequency sensorineural hearing impairment&Abnormal foot morphology Pes cavus!Talipes equinovarus Pes planus Hammertoe Broad footToe syndactyly)Achilles tendon contracture"Talipes equinovalgus Short foot Tarsal osteovalgus+Bilateral talipes equinovarus%Abnormal toe morphology"Bulbous tips of toesBroad metatarsalAnkle swelling Narrow footAbnormal delivery,Premature rupture of membranesHydrops fetalis'Nonimmune hydrops fetalis Fetal ascites Small nailHyperconvex nail Anonychia Short nail"Hypoplastic toenails Absent toenail Nail pits$ Hypoplastic fingernail Onychogryposis Onycholysis Ridged nail Fragile nails Split nail Dystrophic toenail%Hyperconvex fingernailsDeep-set nails Thin nailAbsent fingernail Paronychia Leukonychia Broad nail Hallux valgus Weight loss##Genital tract atresia%Foot polydactyly(&Postaxial foot polydactyly' Short toe,(Abnormal metatarsal morphology) Long foot",Camptodactyly of toe- Broad toe .Rocker bottom foot/ Split foot!0Metatarsus adductus'1Preaxial foot polydactyly!2Foot acroosteolysis(4Abnormal hallux morphology5Overlapping toe7 Long hallux&8Calcaneovalgus deformity9Foot oligodactyly-:Abnormality of the tarsal bones< Sandal gap)=Bifid distal phalanx of toe>Podagra)AShort distal phalanx of toe'CDistal foot symphalangismhFZobsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)GToe clinodactyly)HClinodactyly of the 5th toe$LAutoamputation of foot"MDeep plantar creases7N)Acroosteolysis of distal phalanges (feet)<O.Abnormality of blood and blood-forming tissues)PAbnormality of thrombocytesQThrombocytopenia(RAbnormality of neutrophilsS NeutropeniaT Pancytopenia-UAbnormal erythrocyte morphologyVHemolytic anemia,WAbnormal eosinophil morphologyX Eosinophilia+YAbnormal leukocyte morphologyZ Leukopenia[Talipes$\Talipes calcaneovalgus] Short 2nd toe ^Foot osteomyelitis` Lymphopenia"aMegaloblastic anemia)bAutoimmune hemolytic anemia$cIron deficiency anemiadAbnormal bleedingfThrombocytosis!gNormochromic anemiahReticulocytopeniaiNormocytic anemia+jIncreased red blood cell mass"kIncreased hematocrit<l.Increased circulating hemoglobin concentrationm PolycythemianGiant plateletsoAnemiaBp4Neutropenia in presence of anti-neutropil antibodies)qCongenital thrombocytopeniasThromboembolism tHypoplastic anemiauLeukemia-wAbnormal granulocyte morphology*xAbnormal basophil morphologyyGranulocytopenia{Aplastic anemia}Renal amyloidosis!Acute kidney injury#Renal artery stenosis$Vacuolated lymphocytesReticulocytosis"Sideroblastic anemiaAcanthocytosis(Abnormality of coagulation(Reduced factor XI activity-Nonspherocytic hemolytic anemia Hypochromic anemia%Subcutaneous hemorrhage. Persistent bleeding after traumaMicrocytic anemia/!Microangiopathic hemolytic anemia3%Abnormality of metabolism/homeostasisAcidosis Metabolic acidosis Hypoglycemia DehydrationFeverKetosis$Renal tubular acidosis Alkalosis#Hypokalemic alkalosis#Respiratory alkalosis+Episodic ammonia intoxication!Glucose intolerance#Diabetic ketoacidosisRecurrent fever Unexplained feversTruncal obesity%Nonketotic hypoglycemia Polydipsia-Hypokalemic metabolic alkalosisHypoplastic heart Palpitations,Abnormal speech discrimination4&Aplasia/Hypoplasia of metatarsal bones'Abnormal scalp morphology6(Abnormal glomerular mesangium morphology)Diffuse mesangial sclerosis4&Abnormal tubulointerstitial morphology*Tubulointerstitial nephritis HypersplenismMacrocytic anemia)Autoimmune thrombocytopenia Leukocytosis6(Decreased platelet glycoprotein IIb-IIIa/!Reduced antithrombin III activity!Abnormal thrombosis*Extramedullary hematopoiesis'Megaloblastic bone marrowSchistocytosis$Sea-blue histiocytosis;-Reduced lymphocyte surface expression of CD43$Intolerance to protein&Hypoketotic hypoglycemia$Hypertonic dehydrationHyperammonemia$Recurrent hypoglycemia%Fetal akinesia sequence'Aplasia/Hypoplasia of toeOrganic aciduria Ketoacidosis$Renal Fanconi syndrome%Hyperchloremic acidosis(Chronic metabolic acidosisGout#Neonatal hypoglycemia#Abnormal facial shapeShort columella Deep philtrumLarge forehead Tessier cleftFrontal bossing Potter faciesNarrow maxilla>0Morphological central nervous system abnormality1#Abnormality of the abdominal organsVomitingDiarrhea Dysphagia!Nausea and vomitingNausea Constipation%Gastroesophageal refluxPyloric stenosis Anal atresia Malabsorption Anal stenosisAbdominal painChronic diarrhea+Abnormal esophagus morphology Esophageal atresia Poor suck(Abnormal rectum morphologyRectal prolapse Hiatus hernia1#Inflammation of the large intestineProtein avoidanceAnorexiaEsophageal varix"Intractable diarrhea"Esophageal stricture(Zollinger-Ellison syndrome HypothermiaHeat intolerance$Malignant hyperthermia$Renal cortical atrophy-Proximal renal tubular acidosis*Macroorchidism, postpubertal'Heavy supraorbital ridges6(Curved linear dimple below the lower lip)Abnormality of the glabella  Prominent glabella Myopathic facies Cerebral atrophy* Abnormal cerebral morphology# Lower limb spasticity1#Abnormal pyramidal tract morphologyRigidity Spastic gait Gait ataxia Bradykinesia%Neuromuscular dysphagia,Bilateral tonic-clonic seizure Limb ataxia:,Abnormality of extrapyramidal motor functionChorea+Progressive cerebellar ataxia<.Increased neuronal autofluorescent lipopigment DysdiadochokinesisMigraine Migraine with auraTruncal ataxia/!Hypoplasia of the corpus callosum Intention tremor##Migraine without aura$ Encephalocele%%Occipital encephalocele3&%Abnormality of the respiratory system8'*Abnormality of the upper respiratory tract&(Abnormal lung morphology")Pulmonary hypoplasia* Pneumonia,+Restrictive ventilatory defect-,Pulmonary arterial hypertension'-Respiratory insufficiency.Dyspnea1 Emphysema"2Respiratory distress3Asthma,4Recurrent aspiration pneumonia$5Abnormal lung lobation6 Pleuritis(7Abnormal pleura morphology8Apnea9 Hemoptysis; Pneumothorax&<Spontaneous pneumothorax1=#obsolete Abnormality of the bronchicR>BronchiectasisH?:obsolete Restrictive deficit on pulmonary function testing+#APulmonary infiltrates4F&Abnormal cerebral ventricle morphologyGVentriculomegaly'HCerebral cortical atrophy5I'Generalized non-motor (absence) seizure+KGeneralized myoclonic seizureNPolymicrogyria4O&Abnormal upper motor neuron morphologySEpisodic ataxia TPorencephalic cyst UStatus epilepticus/V!Abnormal basal ganglia morphology)WBasal ganglia calcificationXBroad-based gait%ZSubarachnoid hemorrhage[Arrhinencephaly\Ischemic stroke]Gait imbalance-_Abnormal spinal cord morphology` Tethered cord%aFrontotemporal dementiadHypophosphatemiae HyperuricemiafHypercalciuria9g+Increased circulating lactate concentrationhHyperproteinemiai HyperkalemiajHyperglycinemia"kHypertriglyceridemialHomocystinuriamAzotemia0o"Heparan sulfate excretion in urine!pHyperhomocystinemiaqHyperlysinemia$rLow posterior hairlinetNail dysplasiauNail pterygium=v/Impaired vibration sensation in the lower limbs%wAbnormal speech patternxScanning speechyClonus%zIntracranial hemorrhage{Gliosis"|Postural instability#}Hypoglycemic seizures~Postural tremor%Spinal cord compression OpisthotonusNeurodegenerationCerebral edema Phonophobia%Neurofibrillary tanglesApraxia/!Intellectual disability, profound%Delayed CNS myelination3%obsolete Excessive daytime sleepiness!Choroid plexus cyst$Progressive spasticity!Pseudobulbar affect-Delayed gross motor development1#Dysgenesis of the cerebellar vermis Myelopathy'Generalized-onset seizure&Dilated fourth ventricle#Hypocalcemic seizures Pseudobulbar signsPleural effusion#Respiratory paralysis Pulmonary embolism. Recurrent respiratory infections Pulmonary fibrosis?1Diffuse reticular or finely nodular infiltrations Coarse hairSparse scalp hairWhite forelock Curly hair Fine hair"Sparse axillary hair'Premature graying of hairSlow-growing hairSilver-gray hair#Facial hypertrichosis8*Melanin pigment aggregation in hair shafts"Absent axillary hairAbsent eyebrow Woolly hairSparse pubic hair White eyebrowWhite eyelashes&obsolete Alopecia areata#Generalized hirsutismSparse body hairPatchy alopecia Early baldingPili canaliculi%Frontal upsweep of hair)Gastrointestinal hemorrhage Hepatomegaly+Abnormal intestine morphology(Protein-losing enteropathy1#Abnormal small intestine morphology!Meckel diverticulum*Abnormal duodenum morphologyDuodenal atresia HematemesisMelena1#Abnormal large intestine morphology#Aganglionic megacolon!Colonic diverticula#Intermittent diarrhea%Small bowel diverticulaChronic rhinitis%Exaggerated cupid's bowLarge fleshy ears"Focal clonic seizure*Exaggerated startle response!Paroxysmal dystonia/!Abnormality of neuronal migration9+Abnormality of the autonomic nervous system. obsolete Autonomic dysregulation0, Tetraparesis%Poor motor coordinationHorner syndrome%Enlarged cisterna magna/!obsolete Gray matter heterotopias%Gray matter heterotopia"Global brain atrophy Fair hair"Progressive alopecia"Alopecia universalisPoliosisFrontal baldingAlopecia of scalp'Progressive hypotrichosisRed hair Absent hair Brittle hairMutism Hemiplegia Akinesia  Athetosis Drooling! Chiari malformation" Orofacial dyskinesia Incoordination  Clumsiness! Spastic paraparesis> 0Degeneration of the lateral corticospinal tracts Headache Unsteady gait! Cervical myelopathy Vertigo Resting tremor  Anencephaly Hydranencephaly' Transient ischemic attack  Drowsiness# Paroxysmal drowsiness+ Recurrent paroxysmal headache( Lack of peer relationships! Motor deterioration3 %Abnormal cerebellar vermis morphology+ Agenesis of cerebellar vermis1 ##Abnormal caudate nucleus morphology $Caudate atrophy' %Cervical cord compression/ &!Intellectual disability, moderate+ 'Normal pressure hydrocephalus2 ($Progressive neurologic deterioration ) Action tremor * Head tremor! -Focal aware seizure .Cerebellar cyst! 0Leukoencephalopathy 1EEG abnormality 2Memory impairment) 3obsolete Difficulty walking 4Writer's cramp 5obsolete Dysphasia M 7Frequent falls 8Sleep abnormality' 9Psychomotor deterioration :Shuffling gait+ ;Abnormal brainstem morphology) =Hypoplasia of the brainstem4 >&Abnormal lower motor neuron morphology" ?Visual hallucination BPoor coordination CLoss of speech# DNormal interictal EEGK E=Febrile seizure (within the age range of 3 months to 6 years)! FDiminished movement G Hypokinesia& HDevelopmental regression@ I2obsolete Paraganglioma-related cranial nerve palsy J Hand tremor LFasciculations MAphasia% OInfectious encephalitis. P Focal impaired awareness seizure Q Paraparesis% UCavum septum pellucidum/ V!Spinal arteriovenous malformation/ X!EEG with polyspike wave complexes& [Lower limb hyperreflexia \Cogwheel rigidity1 ^#Degeneration of anterior horn cells! aStroke-like episode# cPositive Romberg sign4 d&Thickened superior cerebellar peduncle fLimb dysmetria1 h#Cerebral arteriovenous malformation! jAqueductal stenosis kMyokymia n Spina bifida oLeukodystrophy pSubependymal cysts* rAbnormal midbrain morphology% sMolar tooth sign on MRI uPoor head control wLong-tract signs y Anarthria {Expressive aphasia Meningocele# Occipital meningocele% Cerebellar malformation# Frontolimbic dementia Dyscalculia$ Hypothalamic hamartoma Tetraplegia Astrocytosis( Progressive encephalopathy. Abnormal motor neuron morphology Limb dystonia1 #Abnormal globus pallidus morphology9 +Eye of the tiger anomaly of globus pallidus% Abnormal head movements# obsolete Dysautonomia0,$ Distal muscle weakness6 (Cerebellar dentate nucleus calcification! Language impairment Spastic dysarthria Poor speech. Nonprogressive cerebellar ataxia# Small cerebral cortex' Expressive language delay Myelomeningocele Primitive reflex. Progressive spastic quadriplegia$ Hepatic encephalopathy Bulbar signs Myotonia$ Hyperkinetic movements Acute leukemia# Increased CSF lactate* Spasticity of facial muscles5 'Abnormal corticospinal tract morphology, Upper motor neuron dysfunction/ !Abnormal rapid eye movement sleep* Impaired vibratory sensation Spastic ataxia7 )Abnormal cerebral white matter morphology. Spasticity of pharyngeal muscles0 "Spinocerebellar tract degeneration6 (Calcification of the small brain vessels Loss of ambulation& Diffuse cerebral atrophy) Semilobar holoprosencephaly! Brainstem dysplasia Limb hypertonia! Spastic tetraplegia Alzheimer disease$ Brain stem compression$ Cerebral calcification Waddling gait- Increased intracranial pressure> 0Abnormal periventricular white matter morphology& Hypnagogic hallucination Hypsarrhythmia& Areflexia of lower limbs Cataplexy+ Deficit in nonword repetition Falls* Granulovacuolar degeneration5 'Neuronal loss in central nervous system Axial dystonia Abnormal posturing( Abnormal cortical gyration1 #Abnormal cerebral cortex morphology Cortical dysplasia Inability to walk* Olivopontocerebellar atrophy Retrocollis> 0Patchy demyelination of subcortical white matter% Incomprehensible speechM ?Parkinsonism with favorable response to dopaminergic medication5 'Deficit in phonologic short-term memory Absent facial hair Trichodysplasia# Highly arched eyebrow Absent pubic hair! Hypoplastic nipples" Supernumerary nipple  Absent nipple Low-set nipples' Constrictive pericarditisB 4obsolete Malformation of the heart and great vesselsw$ Intestinal malrotation Steatorrhea Achalasia Episodic vomiting Hematochezia% Episodic abdominal pain' Tracheoesophageal fistula Intussusception) Abnormal stomach morphology  Gastroparesis* Gastrointestinal dysmotility Volvulus Atrophic gastritis Colitis! Intestinal bleeding, Abnormal peritoneum morphology  Peritonitis! Projectile vomiting Duodenal ulcer& Gastrointestinal atresia Paralytic ileus  Polyphagia Gastric ulcer) !Intestinal lymphangiectasia# "Pancreatic hypoplasia #Ileus, %Abnormality of the vasculature 'Head titubation) (Hyporeflexia of lower limbs8 )*Paresis of extensor muscles of the big toe- ,Gastrointestinal telangiectasia -Hepatic necrosis /Bowel incontinence 0Celiac disease' 3Cholestatic liver disease) 4Congenital hepatic fibrosis 5Biliary cirrhosis) 6Hepatic periportal necrosis 7 Hypotension" 8Aortic root aneurysm! 9Vascular dilatation ;Varicose veins =Atherosclerosis3 >%obsolete Dissecting aortic dilatation W ?Overriding aorta( @Abnormal venous morphology$ ADeep venous thrombosisB B4Venous varicosities of celiac and mesenteric vessels; C-Right aortic arch with mirror image branching9 E+Gastrointestinal arteriovenous malformation FFat malabsorption4 G&obsolete Dilatation of ascending aorta 8* HLow-to-normal blood pressure I Vasculitis JArteriosclerosis, KType IV atherosclerotic lesion/ L!Dilatation of an abdominal artery MCerebral ischemia* NSuperficial thrombophlebitis" OBudd-Chiari syndrome; P-Hypertension associated with pheochromocytoma# QPeripheral thrombosisE R7Arteriovenous fistulas of celiac and mesenteric vessels+ SNeonatal respiratory distress4 T&Abnormal pelvic girdle bone morphology U Wormian bones WAortic dissection: X,obsolete Abnormality of calvarial morphology { Z Scoliosis. [ Spondyloepimetaphyseal dysplasia \Skeletal dysplasia ] Bone pain+ ^Multiple epiphyseal dysplasia* _Spondyloepiphyseal dysplasia" `Epiphyseal dysplasia+ aSpondylometaphyseal dysplasia3 c%Increased susceptibility to fractures. e Painless fractures due to injury- gDelayed epiphyseal ossification hNeoplasm iLymphoma jPheochromocytoma kNephroblastoma l Paraganglioma m Osteosarcoma" oBasal cell carcinoma( pGastrointestinal carcinoma q Coxa valga tCloverleaf skull" uSmall foramen magnum vSkull asymmetry/ w!Abnormal sella turcica morphology$ xJ-shaped sella turcica$ yDeformed sella turcica z Broad skull* {Abnormal calvaria morphology |Thickened calvaria ~Pregnancy history* Abnormality of frontal sinus$ Absent frontal sinuses& Absent paranasal sinuses! Large sella turcica Platybasia& Hypoplastic facial bones, Abnormal skull base morphology% Sclerosis of skull base> 0obsolete Symmetrical, oval parietal bone defects / !Abnormal parietal bone morphology Parietal foramina0 "Abnormal foramen magnum morphology" Large foramen magnum/ !Abnormality of skull ossification! High, narrow palate# Palate telangiectasia, Prominent median palatal raphe! Commissural lip pit. Exaggerated median tongue furrow) Downturned corners of mouth. Abnormality of the immune system Lymphadenopathy" Adrenal overactivity, Recurrent bacterial infections" Recurrent infections5 'Decreased circulating IgA concentration Immunodeficiency) Recurrent abscess formationO AAbsence of bactericidal oxidative respiratory burst in phagocytes. Recurrent Aspergillus infections* Systemic lupus erythematosus8 *Recurrent Staphylococcus aureus infections/ !Chronic mucocutaneous candidiasis$ Follicular hyperplasia3 %Chronic noninfectious lymphadenopathy, Decreased lymphocyte apoptosis# Lymph node hypoplasia, Abnormal lymph node morphology Thick skull base) Hypoplastic frontal sinuses* Recurrent E. coli infections6 (Recurrent Serratia marcescens infections- Recurrent Klebsiella infections. Recurrent enteroviral infections5 'obsolete Bilateral cleft lip and palate Oral leukoplakia> 0Respiratory insufficiency due to muscle weakness Rickets Osteomalacia) Delayed skeletal maturation Kyphoscoliosis$ Sparse bone trabeculae Thin bony cortex Osteomyelitis< .obsolete Osteomyelitis due to immunodeficiency ! Pathologic fracture! Recurrent fractures Osteoarthritis- Generalized joint hypermobility Multiple exostoses+ Abnormal cartilage morphology- Stippled chondral calcification$ Relatively short spine- obsolete Small vertebral bodies! Tracheal stenosis* Abnormal tracheal morphology Tracheomalacia Bronchomalacia& Upper airway obstruction: ,Recurrent lower respiratory tract infections# Tracheobronchomalacia$ Tracheal calcification: ,Recurrent upper respiratory tract infections Tachypnea. Neonatal breathing dysregulation Hypoventilation$ Reduced vital capacity- Abnormal pattern of respiration4 &Abnormal respiratory system physiology Osteolysis$ Congenital contracture0 "Arthrogryposis multiplex congenita0 "Accelerated bone age after puberty Kyphosis( Dumbbell-shaped metaphyses Coxa vara+ Abnormal limb bone morphology+ Abnormality of the lower limb% Abnormality of the knee Genu recurvatum+ Abnormality of the upper limb/ !Abnormal morphology of the radius% Neuropathic arthropathy4 &Hyperplasia of the femoral trochanters' Abnormal femur morphology Caudal appendage# Halberd-shaped pelvis Hip dislocation) Multiple joint contractures Arthralgia  Long coccyx Calcific stippling) Cystic angiomatosis of bone' Flared femoral metaphysis  Aspiration Bladder exstrophy" Recurrent bronchitis3 %Urinary bladder sphincter dysfunction  Lymphadenitis) Recurrent fungal infections7 )Recurrent Burkholderia cepacia infections( Abnormal T cell morphologyF 8obsolete Increased proportion of peripheral CD3+ T cells #( Abnormal B cell morphology/ !Impaired memory B cell generationC 5Decreased specific anti-polysaccharide antibody level3 !%Absence of lymph node germinal center- "Decreased circulating total IgM^ #PElevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells5 %'Increased proportion of HLA DR+ T cells ) Genu valgum * Meningioma +Rhabdomyosarcoma% ,Squamous cell carcinoma -Melanoma .Bladder carcinoma /Myelodysplasia, 0Paraganglioma of head and neck) 1Medullary thyroid carcinoma$ 2Hypoplastic iliac wing' 3Abnormal ilium morphology 4Narrow iliac wing 5Flared iliac wing% 6Obstructive sleep apnea 7 Central apneaF 88Apneic episodes precipitated by illness, fatigue, stress ;Exertional dyspnea <Episodic tachypnea' =Nocturnal hypoventilation! >Respiratory failure ? Anisospondyly/ @!obsolete Respiratory difficulties2# BSudden episodic apnea CHyperventilation DHepatoblastoma EMedulloblastoma! FVagal paraganglioma H Ependymoma JThyroid carcinoma$ KUterine leiomyosarcoma MPituitary adenoma& NNeoplasm of the pancreas) OPapillary thyroid carcinoma# PNeoplasm of the liver! QParathyroid adenoma REmbryonal neoplasm T Hypokalemia U Hypocalcemia V Hyponatremia XHyperbilirubinemia YHyperphosphatemia# [Microscopic hematuria+ \Conjugated hyperbilirubinemia' ]Generalized aminoaciduriaE ^7Elevated circulating hepatic transaminase concentration$ `Methylmalonic acidemia a Myoglobinuria bHyperchloriduria3 d%Abnormality of chromosome segregation eHypomagnesemia fHypermagnesemia g Ketonuria6 h(Decreased circulating ACTH concentration5 i'Abnormal cerebrospinal fluid morphology1 j#Increased CSF protein concentration( kRheumatoid factor positive> l0obsolete Decreased circulating aldosterone levelL m>Elevated circulating thyroid-stimulating hormone concentration/ n!Abnormality of thyroid physiology o HistidinuriaF p8Decreased activity of the pyruvate dehydrogenase complex7 q)Leydig cell insensitivity to gonadotropin5 r'Impaired sensitivity to thyroid hormone) tAldehyde oxidase deficiency uVentral hernia' xDistal sensory impairment y Hemivertebrae" zLumbar hyperlordosis ~Thoracic kyphosis Thoracic scoliosis% Thoracolumbar scoliosis, Intervertebral space narrowing% Supernumerary vertebrae Cervical kyphosis Vertebral fusion& Fused cervical vertebrae2 $Partial absence of cerebellar vermis, Vertebral compression fracture Granulomatosis" Immune dysregulation4 &Impaired Ig class switch recombination Autoimmunity" Dysgammaglobulinemia9 +Abnormal delayed hypersensitivity skin test Cutaneous anergy Cubitus valgus Genu varumN @Absent microvilli on the surface of peripheral blood lymphocytes. Reduced delayed hypersensitivity) Abnormal forearm morphology# Radioulnar synostosisE 7Aplasia/Hypoplasia involving the central nervous system Bowing of the legs Femoral bowing% Abnormality of the calf Tibial bowing Micromelia& Hypoplasia of the radius Radial bowing' Elbow flexion contracture Fibular aplasia( Abnormal fibula morphology' Abnormal tibia morphology$ Limited elbow movement. obsolete Abnormality of the ulna" Patellar dislocation" Glomus jugular tumor Breast carcinoma Colon cancer Ganglioneuroma Neuroblastoma3 %Enhanced neurotoxicity of vincristine% Prolonged bleeding time, Abnormality of the musculature Bulging epiphyses Flared metaphysis" Metaphyseal widening& Abnormality of the wrist' Enlargement of the wrists! Metaphyseal cupping$ Hypoplasia of the ulna7 )Bowing of limbs due to multiple fractures& Metaphyseal irregularity Short long bone Mesomelia& Abnormality of the ankle' Enlargement of the ankles Ulnar bowing" Diaphyseal sclerosis Enlarged joints Fibular hypoplasia Arthropathy% Humeroradial synostosis Elbow dislocation* Abnormal shoulder morphology* Shoulder flexion contracture) Abnormal patella morphology% Radial head subluxation* Ulnar deviation of the wrist! Enlarged metaphyses5 'Epiphyseal deformities of tubular bones Tetraamelia2 $Abnormality of the radioulnar joints( Abnormality of the humerus! Patellar hypoplasia$ Limited knee extension Madelung deformity/ !Madelung-like forearm deformities Elbow ankylosis! Flattened epiphysis Hypercalcemia Hypoalbuminemia  Hyperglycemia Hypoproteinemia  Glycosuria HyperlipidemiaE 7Defective DNA repair after ultraviolet radiation damage Hydroxyprolinuria) Increased urinary potassium$ Dislocated radial head+ Recurrent long bone fractures Long fibula  Acromesomelia& Premature osteoarthritis$ Hamstring contractures9 +Hypoplasia of the capital femoral epiphysis" Trophic limb changes# Limited hip extension Septic arthritis  Short femur Fibular overgrowth Slender long bone& Increased carrying angle/ !Abnormal cortical bone morphology1 !#Protuberances at ends of long bones+ "Subperiosteal bone resorption< #.Abnormal circulating cholesterol concentration $Hyperglycinuria %Hyperphosphaturia. & Abnormality of urine homeostasis. ' Abnormal blood ion concentration; (-Abnormal circulating amino acid concentration ) Hypochloremia6 *(obsolete Abnormal cardiological findingsZ + Abnormal EKG. , obsolete Abnormal echocardiogramZ8 -*Abnormal circulating hormone concentration2 .$Increased circulating cortisol level6 /(Abnormal circulating lipid concentration$ 1Limb joint contracture" 4Hypercholesterolemia* 5Reduced factor VIII activity. 6 Low-molecular-weight proteinuria 7 Hypocalciuria 8Lactic acidosis- :Abnormal peripheral myelination ; Cystinuria7 =)Abnormality of the spinocerebellar tracts8 >*Abnormality of peripheral nerve conduction A Prolinuria+ BIncreased blood urea nitrogen& CPanhypogammaglobulinemia< D.T-wave inversion in the right precordial leads5 E'Increased LDL cholesterol concentration) FExcessive purine production' HIncreased serum serotoninC I5Decreased circulating adenosylcobalamin concentration! JHypocholesterolemia- LElevated serum acid phosphatase MHyperuricosuria NGlutaric aciduria? P1obsolete Increased serum 1,25-dihydroxyvitamin D3z QCystathioninuria. R Increased circulating ACTH levelE S7Elevated circulating alkaline phosphatase concentration V Hyposthenuria W Hyperoxaluria@ X2Abnormal isoelectric focusing of serum transferrin- Y4-Hydroxyphenylpyruvic aciduria" ZFasting hypoglycemia8 [*Elevated urinary delta-aminolevulinic acidD \6Hypothalamic gonadotropin-releasing hormone deficiency< ].Elevated circulating parathyroid hormone level' ^Increased urinary taurine _ Carnosinuria" `Dibasicaminoaciduria, bAbnormal acetabulum morphology, dAbnormal pubic bone morphology$ eHypoplastic pubic bone) fAbnormal ischium morphology gHypoplastic ischia! iSquared iliac bones! kProtrusio acetabuli" lFlat acetabular roof' nShallow acetabular fossae" oWide pubic symphysis% pDecreased hip abduction) qShort greater sciatic notch rInverted nipples sBreast hypoplasia u Long nose wCleft ala nasi yAllergic rhinitis zShort nasal bridge | Short nose ~Myopathy# Decreased muscle mass& Ragged-red muscle fibers Rhabdomyolysis% Skeletal muscle atrophy& Impaired oxidative burstX JIntracellular accumulation of autofluorescent lipopigment storage materiald VCurvilinear intracellular accumulation of autofluorescent lipopigment storage material1 #Decreased activity of NADPH oxidase$ Arterial calcificationd VFingerprint intracellular accumulation of autofluorescent lipopigment storage material5 'Decreased pyruvate carboxylase activity9 +Decreased methylmalonyl-CoA mutase activity5 'Increased circulating IgE concentrationG 9Deficient excision of UV-induced pyrimidine dimers in DNA. Prolonged G2 phase of cell cycle# Dicarboxylic aciduria, Generalized amyloid deposition Hyperglutaminemia Oroticaciduria# Ethylmalonic aciduria1 #Abnormality of chromosome stabilityA 3Chromosomal breakage induced by crosslinking agentsA 3Decreased circulating methylcobalamin concentration8 *Increased cellular sensitivity to UV light3 %Reduced coagulation factor V activityd VRectilinear intracellular accumulation of autofluorescent lipopigment storage material Hypernatremia Hypertyrosinemia0 "Mitochondrial malic enzyme reduced5 'Decreased HDL cholesterol concentration; -Decreased circulating carnitine concentration Hypermethioninemia@ 2Elevated circulating creatine kinase concentration5 'Increased circulating IgG concentration# Hyperpepsinogenemia I$ PhosphoethanolaminuriaD 6Increased phosphoribosylpyrophosphate synthetase level) External genital hypoplasia Penile hypospadias% Prominent scrotal raphe. Overgrowth of external genitaliaT FGonadal tissue inappropriate for external genitalia or chromosomal sex Genital ulcers# Aplasia of the vagina Male infertility, Anteriorly displaced genitalia' Abnormality of DNA repair4 &Abnormality of the coagulation cascade# Glyoxalase deficiency; -Elevated circulating creatinine concentration Hydroxyprolinemia5 'Increased circulating IgA concentration4 &Anti-smooth muscle antibody positivityD 6Deficiency of N-acetylglucosamine-1-phosphotransferase) Neonatal hyperbilirubinemiaE 7Reduced orotidine 5-prime phosphate decarboxylase level Argininuria) Sudanophilic leukodystrophy" Abdominal distention Visceromegaly* Abnormal hip bone morphology Hip contracture$ Hypoplastic acetabulae Narrow pelvis bone# Pelvic bone exostoses$ Constricted iliac wing Square pelvis bone Coxa magna: ,Increased circulating ferritin concentration& Low alkaline phosphatase Cystathioninemia5 'Abnormality of mitochondrial metabolism< .Mitochondrial propionyl-CoA carboxylase defect$ Decreased serum leptin4 &obsolete Impaired FSH and LH secretion Hyperthreoninuria Hyperlysinuria" Spina bifida occulta$ Ovoid vertebral bodies+ Irregular vertebral endplates Spondylolisthesis Spondylolysis Block vertebrae Spinal rigidity Hyperlordosis" Cervical subluxation+ Ovoid thoracolumbar vertebrae2 $Abnormal odontoid process morphology0 "Hypoplasia of the odontoid process3 %Abnormal form of the vertebral bodies! Butterfly vertebrae* Cervical spine hypermobility/ !Abnormality of the cervical spine C1-C2 subluxation+ Biconcave flattened vertebrae) Progressive muscle weakness) Generalized muscle weakness) Limb-girdle muscle weakness Myalgia# Axial muscle weakness+ Abnormal hairshaft morphologyk ]Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes% Abnormal bone structure2 $Absent primary metaphyseal spongiosa1 #Increased serum beta-hexosaminidase6 (Elevated circulating catecholamine levelA 3obsolete Low gonadotropins (secondary hypogonadism),.  Abnormal enchondral ossification- Reduced prothrombin consumption> 0Focal necrosis of right ventricular muscle cells8 *Pyrimidine-responsive megaloblastic anemiaB 4obsolete Abnormal dermatological laboratory findings$ Lamina lucida cleavage2 $Reduced glutathione synthetase level' 3-Methylglutaric aciduria3 %Elevated urinary norepinephrine levelH :Impaired lymphocyte transformation with phytohemagglutinin Hyperalaninemia1 #Low cholesterol esterification rate7 )Decreased circulating renin concentrationA 3Endopolyploidy on chromosome studies of bone marrow2 $Propionyl-CoA carboxylase deficiency Hyperthreoninemia  Aminoaciduria& Thymic hormone decreased, Elevated intracellular cystine' Decreased urinary sulfate !Tryptophanuria6 "(Increased VLDL cholesterol concentration& #Abdominal situs inversus# %Arthralgia of the hip3 &%Abnormal femoral neck/head morphology. ' Abnormal femoral neck morphology. ( Abnormal femoral head morphology, *Flat capital femoral epiphysis; +-Enlargement of the proximal femoral epiphysis* /Narrow greater sciatic notch 0 Steppage gait. 2 Axonal degeneration/regenerationD 46Decreased number of peripheral myelinated nerve fibers( 6Hypertrophic nerve changes" 7Onion bulb formation' 8Peripheral axonal atrophyJ ;Sensory axonal neuropathy ? Gowers sign5 @'First dorsal interossei muscle weakness# AThenar muscle atrophy B Muscle spasm D SyringomyeliaO EAGeneralized hypotonia due to defect at the neuromuscular junctionJ F 0Segmental peripheral demyelination/remyelination% EMG: axonal abnormality( Upper limb muscle weakness Babinski sign4 &Acute episodes of neuropathic symptomsR Dobsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA N* Elevated urine pyrophosphate- High urinary gonadotropin level- Antinuclear antibody positivityC 5obsolete Loss of heterozygosity, multiple chromosomes* GM2-ganglioside accumulation- Increased circulating IgM level, Disproportionate short stature Mild short stature) Proportionate short stature" Severe short statureN @Reduced ratio of renal calcium clearance to creatinine clearance9 +Deficiency or absence of cytochrome b(-245)7 )Birth length greater than 97th percentile8 *Disproportionate short-trunk short stature4 &Decreased methionine synthase activity& Orotic acid crystalluria$ Hyperprostaglandinuria; -Elevated circulating calcitonin concentrationS EParathormone-independent increased renal tubular calcium reabsorption> 0Elevated circulating glutaric acid concentration Ornithinuria6 (Reduced acetaldehyde dehydrogenase level2 $Reduced xanthine dehydrogenase level) 3-Methylglutaconic aciduria3 %Decreased fumarate hydratase activity Hypouricemia1 #Increased iduronate sulfatase level+ Impaired platelet aggregation1 #Urinary glycosaminoglycan excretion& Increased serum pyruvate" Exercise intolerance- Shoulder girdle muscle weaknessL >Subsarcolemmal accumulations of abnormally shaped mitochondria. Abnormality of connective tissue1 #Predominantly lower limb lymphedema( Difficulty climbing stairs Muscle stiffness9 +obsolete Cellulitis due to immunodeficiency2) Type 2 muscle fiber atrophy$ Muscle fiber splitting< .Increased variability in muscle fiber diameter4 &Viral infection-induced rhabdomyolysis& Muscle hyperirritability Muscular dystrophy3 %Birth length less than 3rd percentile4 &Abnormal metaphyseal vascular invasion5 'Decreased LDL cholesterol concentration3 %Folate-dependent fragile site at Xq285 'Elevated erythrocyte sedimentation rate. Increased serum prostaglandin E28 *Decreased glucosephosphate isomerase level, Molybdenum cofactor deficiency Propionic acidemia# Low plasma citrulline' Increased total bilirubin- Positive regitine blocking test, Increased intracellular sodium Congenital onset Adult onset Late onsetInsidious onset Infantile onset Middle age onset&Absent urinary urothione,4-hydroxyphenylacetic aciduria7)Foam cells with lamellar inclusion bodies&Fibroblast metachromasia+Positive ferric chloride test2$Antiphospholipid antibody positivityTrimethylaminuriaA 3Premature separation of centromeric heterochromatin%Juvenile onset'Neonatal onset2 Amyoplasia:3,Loss of subcutaneous adipose tissue in limbsN5@Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity07"Elevated urinary epinephrine level8CNS foam cells9Hemoglobinuria0:"Type I transferrin isoform profile(;Sulfite oxidase deficiency3=%Prolonged partial thromboplastin time>BicarbonaturiaM??Electron transfer flavoprotein-ubiquinone oxidoreductase defect@Lacticaciduria2A$Abnormal glycosidase enzyme activityC Foam cells%DRecurrent myoglobinuria$ECellular metachromasia;F-Reduced dihydropyrimidine dehydrogenase levelAG3Reduced level of N-acetylglucosaminyltransferase II5H'Decreased beta-glucocerebrosidase level?I1Vascular granular osmiophilic material depositionJHypomethioninemia9Q+Amyotrophy of the musculature of the pelvisZOnset\ Progressive ]Slowly progressive!^Rapidly progressive!_Pace of progression`Nonprogressive'bVariable progression rate(cobsolete Large beaked nose8g*Centrally nucleated skeletal muscle fibers9h+Cytochrome C oxidase-negative muscle fibers2i$Multiple mitochondrial DNA deletions"jLimb muscle weaknesskScapular wingingmDistal amyotrophy1n#Late-onset proximal muscle weaknessFp8Absent epiphysis of the distal phalanx of the 5th finger(qScapuloperoneal amyotrophy!rDifficulty standing$tGeneralized amyotrophy&uProximal muscle weakness&xScapuloperoneal weakness+{Calf muscle pseudohypertrophy,~Exercise-induced muscle cramps)Skeletal muscle hypertrophy#Muscle fiber necrosis#Myofibrillar myopathy8*Generalized muscular appearance from birth&Minimal subcutaneous fatMuscle mounding,Generalized muscle hypertrophy"Neck flexor weakness,Shoulder girdle muscle atrophy Firm muscles2$Enteroviral dermatomyositis syndrome EMG: myotonic runs(Quadriceps muscle weaknessThigh hypertrophy!Autophagic vacuoles$Mitochondrial myopathy&Exercise-induced myalgiaMyoclonic spasms. Myotonia with warm-up phenomenon4&obsolete Congenital muscular dystrophy "Genetic anticipationB4Genetic anticipation with paternal anticipation biasSporadic+Pelvic girdle muscle weakness,Increased muscle fatiguability'Episodic flaccid weaknessA3Type 1 fibers relatively smaller than type 2 fibersSkeletal myopathy1#Reduced subcutaneous adipose tissue-Hypoplasia of lymphatic vesselsB4Percussion-induced rapid rolling muscle contractions CalcinosisUterus didelphysBruxismNevus%Psoriasiform dermatitis Periodic paralysis Pulp calcification,Stage 5 chronic kidney disease Pili torti#Short mandibular rami-Antegonial notching of mandible"Excessive salivationEunuchoid habitus7)obsolete Externally rotated/abducted legs"\. Type 1 collagen overmodification;-Decreased CSF homovanillic acid concentration=/Type 1 and type 2 muscle fiber minicore regionsMinicore myopathy=/Deposits immunoreactive to beta-amyloid protein)Short middle phalanx of toe#Irregular iliac crest(Limb-girdle muscle atrophyNemaline bodies&Marked delay in bone ageE7Muscle abnormality related to mitochondrial dysfunction. Type 1 muscle fiber predominanceRimmed vacuoles"Abnormal muscle tone2$Reduced intrathoracic adipose tissue/!Late-onset distal muscle weaknessNeonatal death$Phenotypic variability Death in childhood Stillbirth#Variable expressivity/!Typified by incomplete penetrance3%Typified by age-related disease onset0"Abnormality of the tibial plateaux1#Laterally deficient tibial plateaux"Shoulder dislocation"Shoulder subluxation4&Stippled calcification of the shoulder;-Soft-tissue ossification around the shoulders6(Abnormal upper limb epiphysis morphology8*Delayed upper limb epiphyseal ossification5'Fragmented epiphyses of the upper limbs4&Irregular epiphyses of the upper limbs0"Round epiphyses of the upper limbs0"Small epiphyses of the upper limbs7)Wide epiphyseal plates of the upper limbs2$Cupped metaphyses of the upper limbs* Flared upper limb metaphysis1 #Upper-limb metaphyseal irregularity< .Lytic defects in metaphyses of the upper limbsN @Normal density transverse bands in metaphyses of the upper limbsS ESclerosis with transverse striations in metaphyses of the upper limbs8*Sclerosis of metaphyses of the upper limbs3%Spurred metaphyses of the upper limbs-Upper limb metaphyseal wideningA3Cortical diaphyseal irregularity of the upper limbs?1Cortical diaphyseal thickening of the upper limbs5'Diaphyseal sclerosis of the upper limbs0"Broad diaphyses of the upper limbsAbsent humerusAngulated humerus Bifid humerus Bowed humerus'Coarse humeral trabeculae+Humeral cortical irregularity)Humeral cortical thickening'Humeral cortical thinningCrumpled humerusDeformed humerus Humeral exostoses" Humerus varus##Humeral lytic defects"$Osteoporotic humerus+%Oval transradiancy of humerus,&Periosteal new bone of humerus$'Humeral pseudarthrosis+(Sclerotic foci of the humerus)Humeral sclerosis*Slender humerus+Tapered humerus ,Triangular humerus"-Undermodeled humerus. Wide humerus./ Abnormal humeral head morphology%0Flattened humeral heads41&Abnormal deltoid tuberosity morphology,2Prominent deltoid tuberosities23$Abnormality of the humeral epiphysis44&Absent humeral epiphyseal ossification<5.Advanced ossification of the humeral epiphysis56'Delayed humeral epiphyseal ossification)7Flattened humeral epiphyses)8Irregular humeral epiphyses=9/Irregular ossification of the humeral epiphyses%:Large humeral epiphyses%;Round humeral epiphyses%<Small humeral epiphyses==/Stippled calcification of the humeral epiphyses1>#Epiphyseal stippling of the humerus%?Broad humeral epiphyses/@!Wide epiphyses of the upper limbs9A+Abnormality of the humeral epiphyseal plate,BBroad humeral epiphyseal plate4C&Abnormal humeral metaphysis morphology+DCorner fracture of metaphysisEE7Cortical subperiosteal resorption of humeral metaphyses)FEnlarged humeral metaphyses'GFlared humeral metaphysis'HFrayed humeral metaphyses.I Humeral metaphyseal irregularity:J,Irregular ossification of humeral metaphyses5K'Lytic defects of the humeral metaphysis5L'Normal-density transverse humeral bands(MPointed humeral metaphysis*NSclerotic humeral metaphysisGO9Sclerotic humeral metaphysis with longitudinal striations(PSloping humeral metaphysis2Q$Laterally sloping humeral metaphysis(RSpurred humeral metaphysis'SSquare humeral metaphysis:T,Stippled calcification of humeral metaphysis3V%Abnormal humeral diaphysis morphology8W*Cortical irregularity of humeral diaphysis6X(Cortical thickening of humeral diaphysis7Y)Ground glass opacity of humeral diaphysis0Z"Lytic defects of humeral diaphysis6[(Periosteal new bone of humeral diaphysis1\#Sclerotic foci of humeral diaphysis,]Sclerosis of humeral diaphysis'^Slender humeral diaphysis$_Wide humeral diaphysis,bSynostosis involving the elbow$cHumeroulnar synostosis)dOsteoarthritis of the elbow1e#Stippled calcification of the elbow2f$Synovial chondromatosis of the elbow:g,Abnormality of the joint spaces of the elbow.h Narrow joint spaces of the elbow>i0Irregular articular surfaces of the elbow joints7j)Abnormality of the epiphyses of the elbow3k%Delayed elbow epiphyseal ossification.l Irregular epiphyses of the elbow2m$Abnormal elbow metaphysis morphology%nFlared elbow metaphyses5o'Distal humeral metaphyseal irregularity7p)Sclerotic foci of metaphyses of the elbow!qAbsent forearm bone%rAngulated forearm bones2s$Bone-in-a-bone appearance of forearm!tBowed forearm bones6u(Cortical thickening of the forearm bones/v!Cross-fusion of the forearm bones$wDeformed forearm bones,xExostoses of the forearm bones%yFractured forearm bones0{"Lytic defects of the forearm bones(|Osteoporotic forearm bones1}#Pseudarthrosis of the forearm bones-~Sclerotic foci in forearm bones%Sclerotic forearm bones#Slender forearm bones)Undermodelled forearm bones!Broad forearm bones$Wide radioulnar joints Absent radius8*obsolete Chevron-shaped/cone-shaped radius Constricted radiusDeformed radiusFractured radius)Lytic defects of the radius*Pseudarthrosis of the radius Broad radius!Aplasia of the ulna)Posteriorly dislocated ulna#Exostoses of the ulna%Exostoses of the radiusFractured ulna Long ulna Notched ulna Pointed ulna(Osteosclerosis of the ulna Slender ulna Broad ulnaDislocated wrist,Abnormality of the radial head#Flattened radial head%Hypoplastic radial head%Constricted radial neck-Abnormality of radial epiphyses1#Cone-shaped distal radial epiphysis1#Medially deficient radial epiphyses(Flattened radial epiphyses1#Medially flattened radial epiphyses(Irregular radial epiphyses$Large radial epiphyses$Round radial epiphyses(Sclerotic radial epiphyses&Sloping radial epiphyses/!Medially sloping radial epiphyses$Small radial epiphyses>0Premature fusion of the radial epiphyseal plates5'Medially fused radial epiphyseal plates+Broad radial epiphyseal plate3%Abnormal radial metaphysis morphology&Cupped radial metaphyses0"Exostoses of the radial metaphysis&Flared radial metaphysis-Radial metaphyseal irregularity=/Irregular ossification of the radial metaphysis0"Lytic defects of radial metaphysisF8Sclerotic radial metaphysis with longitudinal striations'Sloping radial metaphysis0"Medially sloping radial metaphysis'Spurred radial metaphysis%Broad radial metaphysis-Abnormality of radial diaphysis'Spurs of radial diaphysis/!Lytic defects of radial diaphysis2$Patchy sclerosis of radial diaphysis$Broad radial diaphysis+Abnormal olecranon morphologyCurved olecranon!Irregular olecranon7)Abnormal ulnar styloid process morphology*Long styloid process of ulna1#Abnormal ulnar epiphysis morphology=/obsolete Bony spicule of ulnar epiphyseal plate2$Abnormal ulnar metaphysis morphology2$Corner fragments of ulnar metaphysis%Cupped ulnar metaphysis,Ulnar metaphyseal irregularity/!Lytic defects of ulnar metaphysis&Pointed ulnar metaphysis&Sloping ulnar metaphysis&Spurred ulnar metaphysis#Wide ulnar metaphysis*Narrow joint spaces of wrist. Decreased carpal angles of wrist Absent hand5'Advanced ossification of the hand bones4&Delayed ossification of the hand bones6(Dysharmonic maturation of the hand bones$Sclerosis of hand boneMitten deformityHand monodactylyRadial club hand Trident hand9+obsolete Laterally deviated thumb phalanges@2obsolete Laterally deviated terminal thumb phalanxdVobsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysisCurved fingers!Deviation of finger Macrodactyly,Abnormal 2nd finger morphology?1obsolete Radially deviated index finger phalanges"Midline nasal grooveG9obsolete Radially displaced proximal index finger phalanx(Midline defect of the nose!$Dimple on nasal tipR*Dobsolete Metaphyseal abnormality of middle phalanx of the 2nd fingerJ+f0obsolete Wide/broad phalanges of the ring fingerCi5obsolete Expanded proximal phalanx of the ring finger$^OjAobsolete Lytic defects of the proximal phalanx of the ring finger$`@k2obsolete Short proximal phalanx of the ring finger$T,oAbnormal 5th finger morphology,qClinodactyly of the 5th finger4u&Abnormal 5th finger phalanx morphology0v"Curved phalanges of the 5th fingerCx5Osteolytic defects of the phalanges of the 5th finger-zSymphalangism of the 5th fingerA{3Abnormality of the middle phalanx of the 5th finger4|&Short middle phalanx of the 5th fingerK~=Cone-shaped epiphysis of the distal phalanx of the 5th fingerE7Ivory epiphysis of the distal phalanx of the 5th fingerRDAbnormality of the epiphysis of the middle phalanx of the 5th fingerA3Abnormality of the distal phalanx of the 5th finger5'Curved distal phalanx of the 5th finger4&Short distal phalanx of the 5th fingerTFSubluxation of the proximal interphalangeal joint of the little finger!Carpal bone aplasia$Accessory carpal bones3%Advanced ossification of carpal bones7)Bone-in-a-bone appearance of carpal bones'Comma-shaped carpal bones$Irregular carpal bones Large carpal bones+Lytic defects of carpal bones,Proximally placed carpal bones0"Sclerotic foci within carpal bones4&Stippled calcification in carpal bones Broad carpal bones)Abnormality of the scaphoid Accessory scaphoid#Comma-shaped scaphoid2$Delayed ossification of the scaphoidSmall scaphoid,Abnormality of the lunate boneAccessory lunate&Proximally placed lunate&Lunate-triquetral fusion*Abnormality of the trapeziumAbsent trapezium3%Delayed ossification of the trapeziumSmall trapezium/!Abnormality of the trapezoid bone8*Delayed ossification of the trapezoid bone"Small trapezoid bone,Abnormality of the hamate boneLarge hamate boneWide hamate bone. Abnormality of the capitate bone!Large capitate bone(Narrow carpal joint spaces-Narrow small joints of the hand<.Osteoarthritis of the small joints of the hand9+Subluxation of the small joints of the hand/!Cortical thickening of hand bones-Cortical thinning of hand bones-Cupped metaphyses of hand bones2$Deficient ossification of hand bones'Duplication of hand bones%Exostoses of hand bones"Fractured hand bones4&Synostosis involving bones of the hand Short palm2$Irregular ossification of hand bones/!Irregular sclerosis of hand bones Narrow palm Notched hand bones%Overmodelled hand bones,Patchy sclerosis of hand bones Pointed hand bones+Pseudoepiphyses of hand bones*Sclerotic foci in hand bones@2Sclerosis of hand bones with transverse striations2$Stippled calcification of hand bones&Undermodelled hand bones7)Synostosis of second metacarpal-trapezoid9+Subluxation of metacarpal phalangeal joints0"Abnormal gastric mucosa morphology;-Abnormal gastrointestinal vascular morphology/!Abnormality of the biliary system/!Abnormality of the abdominal wall*Hernia of the abdominal wall&Functional motor deficit. Abnormal muscle fiber morphology#Involuntary movements-Abnormal endocardium morphology5'Abnormal anatomic location of the heart$Ventricular arrhythmia'Ventricular preexcitation,Abnormal macrophage morphology. Abnormal reticulocyte morphology:,Decreased circulating antibody concentration5'Decreased circulating IgG concentration=/Decreased circulating aldosterone concentrationVaginal fistulaBladder fistula Short stature(Abnormality of body weight#Increased body weight#Decreased body weightCachexia0"Abnormal vitreous humor morphology6(Abnormal anterior eye segment morphology7)Abnormal posterior eye segment morphology*Increased skull ossification*Decreased skull ossification,Abnormal lymphocyte morphology$Bone-marrow foam cellsDermal atrophy Myelin outfoldings2$Abnormality of amino acid metabolismD6Abnormal circulating aromatic amino acid concentrationB4Abnormal circulating sulfur amino acid concentration1#Abnormality of vitamin B metabolism3%Abnormality of vitamin B12 metabolism4&Abnormal galactosidase enyzme activity3%Abnormal glycosphingolipid metabolism5'Abnormality of cerebrosidase metabolism&Ganglioside accumulation0"Weakness of muscles of respiration1#Abnormality of bone mineral density*Reduced bone mineral density7)Abnormal circulating purine concentration;-Abnormal circulating pyrimidine concentration@2Abnormal circulating carboxylic acid concentration=/obsolete Abnormality of proteoglycan metabolism1#Abnormality of lysosomal metabolism8*Abnormal circulating leucine concentration2$Abnormality of superoxide metabolism;-Abnormal circulating fatty-acid concentration2$Abnormality of acid-base homeostasis7 )Abnormal circulating leptin concentration2 $Abnormal enteric ganglion morphology8 *Abnormal circulating calcium concentrationB 4Abnormal circulating nitrogen compound concentration; -Abnormal circulating tryptophan concentration'Abnormality of glycolysis=/obsolete Abnormality of glycoprotein metabolism8*Increased circulating purine concentration8*Decreased circulating purine concentration3%Abnormality of temperature regulation9+Abnormality of glycosaminoglycan metabolism#Reduced consciousnessFocal dystonia$Hemiplegia/hemiparesis,Neoplasm of the nervous system Neuroblastic tumor$Hematological neoplasm%Abnormality of the anus7)Abnormality of alkaline phosphatase level(Aortic valve calcification+Supravalvular aortic stenosis(Mitral valve calcification$Hypoplastic left heart' Type I truncus arteriosus!!Protracted diarrhea+"Gastrointestinal inflammation# Enterocolitis$ Microcolon+%Intestinal pseudo-obstruction%&Hamartomatous polyposis( Prune belly%*Multiple gastric polyps+ Malnutrition, Poor appetite- Ectopic anus. Peptic ulcer(/Congenital pyloric atresia(0Abnormality of the pylorus1Meconium ileus)3Proximal esophageal atresia(4Abnormal nipple morphology5Prominent nipples.6 Spontaneous, recurrent epistaxis$7Bony paranasal bossing/8!Abnormality of the sense of smell9Hyposmia#;Deviated nasal septum1>#Abnormality of the pulmonary artery'?Pulmonary artery stenosis(@Precocious atherosclerosis'AIntermittent claudicationBThrombophlebitis(CRecurrent thrombophlebitis!DArterial thrombosis.E Elevated systolic blood pressure"FBiparietal narrowing&GCranium bifidum occultumI Flat forehead'JAbnormal cheek morphologyL Elfin facies(MRecurrent viral infections.N Severe combined immunodeficiency:O,Reduced circulating complement concentration PAgammaglobulinemia&QSecretory IgA deficiency?R1Decreased circulating complement C8 concentration"UCranial hyperostosis,VHyperostosis frontalis interna%WCraniofacial dysostosis&XCoronal craniosynostosis'ZSagittal craniosynostosis)[Lambdoidal craniosynostosis\ Spherocytosis]Elliptocytosis^Stomatocytosis_Poikilocytosis'`Fulminant hepatic failure&bPreauricular skin furrow$cPostauricular skin tag4d&Abnormality of the middle ear ossicles1e#Overfolding of the superior helices*fAbnormal middle ear reflexes/j!Dilatated internal auditory canal6k(Exostosis of the external auditory canal(mCongenital earlobe sinuses1o#Absent brainstem auditory responsespPostauricular pitHr:Delayed brainstem auditory evoked response conduction timesPreauricular pit*tAnomalous tracheal cartilage uChronic bronchitis+vAtretic occipital cephalocele;w-Aplasia cutis congenita over the scalp vertex%xMandibular hyperostosis1z#Persistent open anterior fontanelle8|*Aplasia cutis congenita over parietal area.~ obsolete Ethmoidal encephalocele&Progressive macrocephaly#Relative macrocephaly$Craniofacial asymmetry&Cessation of head growthAcrobrachycephaly#Macrocephaly at birth$Calvarial hyperostosis(Large posterior fontanelle3%Widely patent fontanelles and sutures'Craniofacial hyperostosis,obsolete Thin anteverted nares0"obsolete Posterior choanal atresia9+Chronic rhinitis due to narrow nasal airway'Bilateral choanal atresia/!Pancreatic islet-cell hyperplasia Long eyebrows$Temporal hypotrichosisN@Large clumps of pigment irregularly distributed along hair shaft'Generalized hypotrichosis'Atrophic, patchy alopecia#Sacral hypertrichosis. Anterior cervical hypertrichosis4&Congenital, generalized hypertrichosis/!obsolete Pointed frontal hairline](Scarring alopecia of scalp(Generalized hypertrichosis'Anterior vertebral fusion$Cervical platyspondyly0"Beaking of vertebral bodies T12-L3+Increased spinal bone density"Severe platyspondyly#Pear-shaped vertebrae)Beaking of vertebral bodies(Increased vertebral height/!Widening of cervical spinal canal%Anterior wedging of T110"Fusion of midcervical facet joints+Sclerotic vertebral endplates5'Anterior scalloping of vertebral bodies1#Increased anterior vertebral height. Irregularity of vertebral bodies(Biconcave vertebral bodies1#Dysplasia of second lumbar vertebra Hypoplastic sacrum(Disc-like vertebral bodies$Thoracic platyspondyly_QHump-shaped mound of bone in central and posterior portions of vertebral endplate:,Supernumerary vertebral ossification centers;-Absent or minimally ossified vertebral bodies(Spina bifida occulta at L5-Cervical C2/C3 vertebral fusion2$Hyperconvex vertebral body endplates2$Absent vertebral body mineralization)Unossified vertebral bodies:,Anterior beaking of lower thoracic vertebrae0"Anteriorly placed odontoid process,Patchy distortion of vertebrae*Lumbar spinal canal stenosis6(Anterior concavity of thoracic vertebrae(Spina bifida occulta at S1"Cleft vertebral arch& Butterfly vertebral arch5 'Sandwich appearance of vertebral bodies# Lumbar kyphoscoliosis) Enlarged vertebral pedicles8*Progressive intervertebral space narrowing'Biconvex vertebral bodiesLumbar scoliosis-Small cervical vertebral bodies4&Anterior beaking of thoracic vertebrae`RDecreased cervical spine flexion due to contractures of posterior cervical muscles*Cervical segmentation defect%Lower thoracic kyphosis,Cuboid-shaped vertebral bodies-Cervical C5/C6 vertebrae fusion/!Decreased cervical spine mobility7)Elevated amniotic fluid alpha-fetoprotein*&Hypoplasia of the nasal bone.4 Hypoplasia of facial musculature'5Frontalis muscle weakness'8Facial midline hemangioma)ADecreased facial expression4D&Prominent supraorbital arches in adult GLarge tarsal bones.I Deep longitudinal plantar creaseLTalipes valgus$NShort third metatarsal$PIrregular tarsal bones%QShort fourth metatarsal'RThickened Achilles tendon S2-3 toe syndactyly T4-5 toe syndactyly,WCalcaneal epiphyseal stippling'XTalipes cavus equinovarus%[Osteoporotic metatarsal$`Short fifth metatarsalhRenal malrotation&iReversible renal failure-mAxial malrotation of the kidney$oHyperechogenic kidneys4r&Thickened glomerular basement membrane%tCalcium nephrolithiasis2w$Impaired renal concentrating ability0y"Acute tubulointerstitial nephritis0|"Impaired renal uric acid clearance'~Renal cortical microcysts)Crossed fused renal ectopia'Global glomerulosclerosis9+Abnormal renal collecting system morphology2$Chronic tubulointerstitial nephritis?1Glomerular subendothelial electron-dense depositsAtrial flutter0"Paroxysmal ventricular tachycardia6(Congenital atrioventricular dissociation+Permanent atrial fibrillation*Supraventricular tachycardia%Ventricular tachycardia,Paroxysmal atrial fibrillation@2Effort-induced polymorphic ventricular tachycardia<.obsolete Nodular calcific aortic valve disease/!obsolete Congenital septal defect9+Post-angioplasty coronary artery restenosis+Hypoplasia of right ventricle5'Paroxysmal supraventricular tachycardia2$Myxomatous mitral valve degeneration(Sparse anterior scalp hair,Premature graying of body hair Brittle scalp hair"Elbow hypertrichosis1#obsolete Hypotrichosis of the scalp Duodenal polyposis1#Juvenile gastrointestinal polyposis"Malrotation of colon!Jejunal diverticula!Fulminant hepatitis#Intestinal lymphedema!Lactose intolerance/!Hypoplasia of the small intestine#Esophageal ulceration#Rectoperineal fistula(Malrotation of small bowel*Hamartomatous stomach polyps*Gastrointestinal obstruction+Multiple small bowel atresias?1Recurrent infection of the gastrointestinal tract%Jejunoileal diverticula"Duodenal diverticula'Episodic hemolytic anemia)Congenital hemolytic anemia$Acute myeloid leukemia2$Neonatal alloimmune thrombocytopenia+Congenital hypoplastic anemia,B Acute Lymphoblastic Leukemia/!Post-transfusion thrombocytopenia0"Fava bean-induced hemolytic anemia-Drug-sensitive hemolytic anemia1#Paroxysmal nocturnal hemoglobinuria+Normocytic hypoplastic anemia+Acute myelomonocytic leukemia4&Hypersegmentation of neutrophil nuclei%Atypical elliptocytosis!Anisopoikilocytosis2$Increased hemoglobin oxygen affinity6(Folate-unresponsive megaloblastic anemia8*Refractory anemia with ringed sideroblasts'Recurrent thromboembolism Microspherocytosis*Acute promyelocytic leukemia Pyropoikilocytosis+Hypochromic microcytic anemia)Reduced factor XII activity. Coombs-positive hemolytic anemia&Acute monocytic leukemia. Prolonged bleeding after surgery6(Ph-positive acute lymphoblastic leukemia,Recurrent deep vein thrombosis4&Folate-responsive megaloblastic anemia4&Reduced leukocyte alkaline phosphatase+Intermittent thrombocytopenia(Reduced protein S activity,Normochromic microcytic anemia,Hyperchromic macrocytic anemia. Amegakaryocytic thrombocytopenia6(Thiamine-responsive megaloblastic anemia*Refractory macrocytic anemia*Compensated hemolytic anemia9+Elevated bone marrow ring sideroblast count7)Impaired ADP-induced platelet aggregation&Chronic hemolytic anemiaPerineal fistulaIncisional hernia* Neonatal inspiratory stridor/ !Spontaneous neonatal pneumothorax)Intercostal muscle weakness+Intermittent hyperventilation2$Respiratory infections in early life&Episodic hypoventilation+Episodic respiratory distress*Congenital laryngeal stridor@2Respiratory failure requiring assisted ventilationWIIntermittent episodes of respiratory insufficiency due to muscle weakness0"Elevated pulmonary artery pressure4&Recurrent infections due to aspiration&Laryngotracheal stenosis6!(Stress/infection-induced lactic acidosis("Persistent lactic acidosis$$Severe lactic acidosis.% Exercise-induced lactic acidemia(&Congenital lactic acidosis2($Maturity-onset diabetes of the young9)+Reduced circulating vitamin A concentration'*Hypernatremic dehydration;--Hypokalemic hypochloremic metabolic alkalosis8.*Bicarbonate-wasting renal tubular acidosis)/Episodic metabolic acidosis&0Hypophosphatemic rickets*1Intermittent lactic acidemia.2 Recurrent infantile hypoglycemia03"Impairment of galactose metabolism14#Generalized distal tubular acidosis/6!Hyperchloremic metabolic acidosis#7Galactose intolerance$8Phenylpyruvic acidemia.9 Abnormal magnesium concentration,:Atypical hyperphenylalaninemia#;Hyperphenylalaninemia-<Abnormal oral glucose tolerance%=Chronic lactic acidosisB>4Orthostatic hypotension due to autonomic dysfunction)?Pulmonary artery dilatation3@%obsolete Peripheral arterial stenosisV/A!obsolete Coronary atherosclerosis6B(Abnormality of the pulmonary vasculature9C+Arteriosclerosis of small cerebral arteries)EAscending aortic dissection$FVascular calcification&GPulmonary artery atresiaHVenous thrombosis'IPulmonary artery aneurysm(JTortuous cerebral arteries0L"Generalized arterial calcification.M Extrahepatic portal hypertensionNAortic aneurysm)OAccelerated atherosclerosis/P!Dilatation of the cerebral artery=Q/Extracranial internal carotid artery dissection#SArteriovenous fistula!TVascular tortuosity*VPeripheral arterial stenosis.X Pulmonary arteriovenous fistulas4Y&obsolete Dilatation of abdominal aorta9Z+obsolete Dilatation of the descending aorta_-[Generalized arterial tortuosity0_"Descending thoracic aorta aneurysm%`Absent pulmonary artery$aPulmonary artery sling*bThoracic aorta calcification(cCalcification of the aorta3d%Pulmonary arterial medial hypertrophy4f&Medial calcification of large arteries+hRecurrent cerebral hemorrhage2i$Peripheral pulmonary artery stenosis.j Ascending tubular aorta aneurysm)kPulmonary artery hypoplasia-lElevated mean arterial pressure,nCoarctation of abdominal aorta6o(Erlenmeyer flask deformity of the femurspKnee dislocation&qBilateral radial aplasia#sMetaphyseal sclerosis%tMetaphyseal rarefaction/u!Prominent styloid process of ulna4z&obsolete Rudimentary to absent fibulae&{Mesomelic leg shortening"~Epiphyseal streaking'Rhizomelic arm shortening6(Slender long bones with narrow diaphysesE7Multicentric ossification of proximal humeral epiphyses,Recurrent patellar dislocationA3Aplasia/Hypoplasia of the capital femoral epiphysis1#Flattened proximal radial epiphysesF8Femoral bowing present at birth, straightening with time&Large joint dislocations%Dumbbell-shaped humerusOAOsteomyelitis leading to amputation due to slow healing fractures&Mesomelic arm shortening0"Dysplastic distal radial epiphyses-Polyarticular chondrocalcinosis(Diaphyseal undertubulation*Bilateral elbow dislocations'Hypoplastic distal humeri2$Mesomelic/rhizomelic limb shortening0"Widened proximal tibial metaphyses%Distal ulnar hypoplasia5'Shortening of all phalanges of the toes)Unilateral ulnar hypoplasia-Proximal radio-ulnar synostosis*Multiple long-bone exostoses1#Irregular capital femoral epiphysis1#Irregular, rachitic-like metaphyses7)Proximal humeral metaphyseal irregularity+Diaphyseal cortical sclerosis(Synostosis of carpal bones3%Anterolateral radial head dislocationMetaphyseal spurs"Arthralgia/arthritis-Limited elbow flexion/extension-Fragmented, irregular epiphysesA3Cone-shaped epiphyses fused within their metaphyses)Proximal fibular overgrowth,Absent styloid process of ulna2$Rhizo-meso-acromelic limb shortening. Proximal radial head dislocation!Wrist hypermobility. Anterior radial head dislocation,Limited knee flexion/extension!Knee osteoarthritis0"Abnormal metaphyseal trabeculation$Lateral femoral bowing+Streaky metaphyseal sclerosis. Absent proximal radial epiphyses#Distal femoral bowing-obsolete Severe hydrops fetalisL>Premature birth following premature rupture of fetal membranes/!High-frequency hearing impairment#Cochlear degeneration6(Calcification of the auricular cartilage&Hypoplastic nasal septum'Abnormal nasal morphology4&Abnormality of the vertebral endplates(Abnormal sacrum morphology5'Abnormal intervertebral disk morphology0"Abnormality of the Achilles tendon!Atrial fibrillation8*obsolete Dilatation of the ascending aortaj'Abdominal aortic aneurysm"Aortic arch aneurysm?1obsolete Abnormalities of the peripheral arteries*)Supraventricular arrhythmia!Arterial tortuosity/!Elevated diastolic blood pressure0"Abnormal cardiac atrium morphology6(Posterior scalloping of vertebral bodies6 (Congenital hypertrophy of left ventricle0 "obsolete Restrictive heart failure& Pericardial constriction* Right ventricular dilatation,Absence of the pulmonary valveAbnormal T-wave*Mitral annular calcification:,obsolete Episodes of ventricular tachycardiaM?Anomalous origin of right pulmonary artery from ascending aorta,Ventricular septal hypertrophy&Coronary artery stenosis)Cardiac valve calcification. Bidirectional ventricular ectopy%Pulmonary valve defects2$Abnormal atrioventricular conduction0"Preductal coarctation of the aorta) Histiocytoid cardiomyopathy'#Ventricular escape rhythm%$Hypoplastic left atrium4%&Concentric hypertrophic cardiomyopathy5('Total anomalous pulmonary venous return0*"Abnormal left ventricular function(,Dysplastic pulmonary valve#-Shortened PR interval,0Elevated right atrial pressure;2-Complete heart block with broad QRS complexes-4Left posterior fascicular block55'obsolete Calcific aortic valve stenosis46&Membranous subvalvular aortic stenosis%8Dysplastic aortic valve(9Premature arteriosclerosis<:.Complete heart block with narrow QRS complexes%<Tricuspid regurgitation7=)Premature coronary artery atherosclerosis&>Bicuspid pulmonary valve*?Pericardial lymphangiectasia$@Prolonged QTc interval)AGlobal systolic dysfunction)BSynovial lining hyperplasia+CProgressive joint destruction6F(Proximal finger joint hyperextensibility)GCongenital knee dislocation-IRestricted large joint movement(JFlattened metatarsal heads'KPolyarticular arthropathy+MGeneralized morning stiffness*NStiff interphalangeal joints7O)Aplasia of the abdominal wall musculature&PRetroperitoneal fibrosis2Q$Anomalous splenoportal venous system+RHelicobacter pylori infection0S"Spontaneous esophageal perforation#VPancreatic pseudocyst!WGastric hypertrophy XSecretory diarrhea*YIntrahepatic bile duct cystsZHypoplastic colon [Midgut malrotation&\Anal mucosal leukoplakia&]Pancreatic calcification$^Intestinal obstruction2_$Frequent Giardia lamblia infestation"`Impaired mastication)aAbdominal organ duplication!bAnoperineal fistula)cAbsence of intrinsic factor3d%Multiple intestinal neurofibromatosis"fBowel diverticulosisgDuplicated colonhRectal abscessiIntestinal edema+kAdenomatous colonic polyposis$mJejunoileal ulceration'nBiliary tract obstructionoChronic gastritis"pPancreatic dysplasia+qHypoplasia of the gallbladder-rNeonatal intestinal obstructionsJejunal atresia-tChronic calcifying pancreatitis(uDegenerative liver disease(vDiscrete intestinal polyps$xEsophageal obstruction,yTotal intestinal aganglionosis/z!Extrahepatic biliary duct atresia/{!Partial abdominal muscle agenesis*|Gastrointestinal infarctions#}Intestinal hypoplasia*~Giant hypertrophic gastritis:,Hypoplasia of the abdominal wall musculature*Intrahepatic biliary atresia/!Functional intestinal obstruction)High intestinal obstruction;-Increased anterioposterior diameter of thorax)Unilateral chest hypoplasia0"Absence of pectoralis minor muscle;-Unilateral absence of pectoralis major muscle!Thoracic hypoplasia0"Pectoral muscle hypoplasia/aplasia9+Abnormal facility in opposing the shouldersJoint hemorrhage3%Abnormal synovial membrane morphology Gastritis,Abnormality of the gallbladder)Abnormal jejunum morphologyIntestinal polypXJPremature delivery because of cervical insufficiency or membrane fragility Miscarriage'Prominent nasolabial fold+Absent nasal septal cartilage!Prominent nasal tip0"Cartilaginous ossification of nose#Hypoplastic nasal tip$Depressed nasal bridge&Hypoplastic nasal bridge!Absent nasal bridge)Abnormal nostril morphology3%Abnormal nasolabial region morphology0"Internal carotid artery hypoplasia'Inflammatory arteriopathy9+Intimal thickening in the coronary arteries"Venous insufficiency!Arterial dissection,Pseudocoarctation of the aorta1#obsolete Occlusive vascular diseaseV3%Premature occlusive vascular stenosiseWobsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia'<.obsolete Premature peripheral vascular diseaseV-Nodular inflammatory vasculitis0"Persistent left superior vena cava'Carotid artery tortuosity'Aortic arch calcification)Hypoplastic pulmonary veins(Cerebral venous thrombosis"Capillary hemangioma@2Postural hypotension with compensatory tachycardia/!Pulmonary artery vasoconstriction8*obsolete Peripheral vascular insufficiencyV%Large vessel vasculitis+Agenesis of pulmonary vessels0"Pulmonary aterial intimal fibrosis. Arterial fibromuscular dysplasia;-Anomalous branches of internal carotid artery:,obsolete Peripheral artery occlusive diseaseV1#Peripheral pulmonary vessel aplasia5'Increased pulmonary vascular resistance!Cerebral vasculitis-Lack of facial subcutaneous fat(Mandibulofacial dysostosis$Prominent nasal septum$Hemifacial hypertrophy. Disturbance of facial expressionD6Extension of hair growth on temples to lateral eyebrow"Hypoplastic philtrum'Loss of facial expression)Progeroid facial appearance%Fixed facial expression/!Recurrent mandibular subluxations&Sleepy facial expression(Forehead hyperpigmentation$Sparse lateral eyebrow. Abnormality of complement system)Spastic/hyperactive bladder+Autonomic bladder dysfunction'Hypoplasia of the bladder0"Abnormal carotid artery morphology+Abnormal vena cava morphology(Abnormal facial expression+Tracheal cartilaginous sleeve!Inspiratory stridor*Hypoplasia of the epiglottis,Severe T-cell immunodeficiencyRecurrent herpes%Lack of T cell functionE7Decreased circulating complement factor I concentration. Defective B cell differentiation#Aplasia of the thymus*Susceptibility to chickenpox&Humoral immunodeficiency. obsolete Severe viral infectionsM&Severe B lymphocytopenia;-Recurrent streptococcus pneumoniae infections-Abnormality of humoral immunityE7Decreased circulating complement factor H concentration. Abnormality of B cell physiology'Cellular immunodeficiency8*obsolete Partial cellular immunodeficiency9+Recurrent Haemophilus influenzae infections/!obsolete Severe T lymphocytopenia-Recurrent meningococcal disease)Defective B cell activation, Recurrent protozoan infections' Combined immunodeficiencyK =Depletion of components of the alternative complement pathway0"Recurrent opportunistic infections0"Susceptibility to coronavirus 229e<.obsolete Exaggerated cellular immune processes. Reduction of neutrophil motility*Recurrent candida infections@2obsolete Primary T-lymphocyte immune abnormalities.@T lymphocytopenia$Increased B cell count1#Recurrent bacterial skin infectionsA3Decreased proportion of CD4-positive helper T cells7!)obsolete Markedly reduced T cell function;,#Chronic intestinal candidiasis&%Increased alpha-globulin:',Decreased proportion of CD8-positive T cellsE(7Decreased circulating complement factor B concentration)+Decreased T cell activation:,,Recurrent gram-negative bacterial infections?-1Decreased circulating complement C3 concentration-.Absence of CD8-positive T cells:/,Dysfunctional alternative complement pathway/0!Absent specific antibody response01"Recurrent sinopulmonary infections(4Severe recurrent varicella45&Recurrent systemic pyogenic infections-6Recurrent Neisserial infections88*Transient hypogammaglobulinemia of infancy&;Impaired T cell functionA=3Recurrent infections in infancy and early childhood)?Maxillozygomatic hypoplasia'ASclerotic cranial sutures*BWidely patent coronal suture&EEnlarged posterior fossa&FObtuse angle of mandible#IBridged sella turcica&JCalvarial osteosclerosis1K#Decreased cranial base ossification2M$Absent/hypoplastic paranasal sinuses&PAbsent ethmoidal sinuses.R Premature closure of fontanelles(UCraniofacial disproportion+VCalcification of falx cerebri%WElongated sella turcica)XCraniofacial osteosclerosis!YFacial hyperostosis,ZHypoplasia of the frontal bone] Flat occiput&`Orbital craniosynostosis+aFusion of middle ear ossicles.b Decreased calvarial ossification+dWidely patent sagittal suture1e#Progressive sclerosis of skull base'fProminent frontal sinuses5g'Decreased circulating IgE concentration?j1Abnormality of the alternative complement pathway,kAbnormal epiglottis morphology$lSecondary microcephalynSmall fontanelle%oProminent metopic ridge$rPostnatal macrocephaly4v&Premature posterior fontanelle closure1w#Metopic suture patent to nasal rootFz8Midline skin dimples over anterior/posterior fontanelles2~$Increased red cell osmotic fragilityRefractory anemia*Chronic myelogenous leukemiaHemoglobin Barts5'Monoclonal immunoglobulin M proteinemia*Transient erythroblastopeniaHeinz body anemia:,Impaired neutrophil killing of staphylococci+Increased megakaryocyte count&T-cell lymphoma/leukemia/!Increased mean corpuscular volume<.Chronic disseminated intravascular coagulation4&Disseminated intravascular coagulation8*Pyridoxine-responsive sideroblastic anemia*Lymphoproliferative disorder*Macrocytic hemolytic disease*Spontaneous hemolytic crisesLymphoid leukemia(Reduced kininogen activity)Bone marrow hypocellularity)Biphenotypic acute leukemia1#Macrocytic dyserythropoietic anemia3%Transient myeloproliferative syndrome(Exercise-induced hemolysis,Decreased mean platelet volume:,T cell chronic lymphocytic lymphoma/leukemia*Red blood cell keratocytosis(Congenital agranulocytosis1#Prolonged whole-blood clotting time(Reduced protein C activity3%Increased red cell osmotic resistance)Myeloproliferative disorder Megakaryocytopenia-obsolete Congenital neutropenia(Chronic lymphatic leukemia/!Abnormality of the metopic suture0"Abnormal zygomatic arch morphologyChronic leukemia8*Abnormality of the kinin-kallikrein system-Imbalanced hemoglobin synthesis2$Abnormal bone marrow cell morphology"Multiple renal cysts+Decreased numbers of nephrons?1Absence of renal corticomedullary differentiation<.Reduced renal corticomedullary differentiation%Renal magnesium wasting<.Increased renal tubular phosphate reabsorption9+Decreased renal tubular phosphate excretion/!Non-acidotic proximal tubulopathy'Hemolytic-uremic syndrome)Tubulointerstitial fibrosis=/Impaired renal tubular reabsorption of chloride)Duplication of renal pelvis6(Tubular basement membrane disintegration"Renal cell carcinoma&Spotty hyperpigmentation4&Hyperpigmentation in sun-exposed areas,Profuse pigmented skin lesions0"Patchy palmoplantar hyperkeratosis%Spotty hypopigmentation. Giant melanosomes in melanocytes@2Macular hypopigmented whorls, streaks, and patches(Generalized hyperkeratosis)Congenital alopecia totalisE7Facial telangiectasia in butterfly midface distribution&Hypopigmentation of hair0"Congenital giant melanocytic nevus"Progressive vitiligo2$Numerous congenital melanocytic nevi?1Large cafe-au-lait macules with irregular margins,Hyperpigmented nevi and streak2$Abnormal tracheobronchial morphology"Bilobate gallbladder%Gallbladder dysfunction. Arthrogryposis-like hand anomaly-Aplasia/hypoplasia of the femur-Accelerated skeletal maturation%Bilateral camptodactyly$Thoracolumbar kyphosis5'Hypermobility of interphalangeal joints(Trapezoidal vertebral bodyBroad long bones-Absent ossification of calvaria'Osteoporosis of vertebrae7)Posterior fusion of lumbosacral vertebrae"Type D brachydactylyAbsent forearmL>Decreased anterioposterior diameter of lumbar vertebral bodies)Hyperextensible hand joints8*Abnormal vertebral segmentation and fusion Short 3rd toe/ !Intervertebral disk calcification(Bilateral ulnar hypoplasia-2-5 finger cutaneous syndactyly Cortical sclerosis/!Moderate generalized osteoporosis(Multiple digital exostoses'Positional foot deformity%Thoracic kyphoscoliosis&Salmonella osteomyelitis4!&Massively thickened long bone cortices#Os odontoideum4'&Bilateral intracerebral calcifications8,*Rudimentary postaxial polydactyly of hands4.&Anterior atlanto-occipital dislocation#/Dupuytren contracture60(Tongue-like lumbar vertebral deformities+1Juvenile rheumatoid arthritis&2Talocalcaneal synostosis#4Distal arthrogryposis#6Patchy osteosclerosis$7Deformed humeral headsC85Dysplastic distal thumb phalanges with a central hole,9Dermatoglyphic ridges abnormal-<obsolete Joint hyperflexibilityf<>.Partial fusion of proximal row of carpal bones*@Postaxial polydactyly type A8D*Increased bone density with cystic changes'EMultiple enchondromatosis,KBilateral triphalangeal thumbs*M2-3 toe cutaneous syndactyly&SFlattened knee epiphyses'TLethal skeletal dysplasia+XShortening of all metacarpals#ZHyperextensible thumb'[Shoe-shaped sella turcica.] Nonopposable triphalangeal thumb2^$Thumbs hypoplastic with bulbous tips#cCortical irregularityBe4Spinal stenosis with reduced interpedicular distanceh Short tibia2k$Posterior subluxation of radial headAo3Avascular necrosis of the capital femoral epiphysisIp;obsolete Generalized osteoporosis with pathologic fractures*qCongenital foot contractures5r'Osteosclerosis of the base of the skull@s2Easily subluxated first metacarpophalangeal joints*vLower-limb joint contracture5x'Flattened moderately deformed vertebrae+|Neonatal epiphyseal stippling ~Basilar impression(Small flat posterior fossa%Polyarticular arthritis Sacral meningocele6(Disproportionate shortening of the tibia3%1-2 toe complete cutaneous syndactyly*2-4 toe cutaneous syndactyly6(Fifth finger distal phalanx clinodactyly-Aplasia/Hypoplasia of the tibia Short forearm)Multiple skeletal anomalies)Carpal bone malsegmentation@2Absent fourth finger distal interphalangeal crease. Contractures of the large joints"Lumbar platyspondyly)Abnormal cervical myelogram(Generalized osteosclerosis'Short mandibular condyles8*Cortical thickening of long bone diaphyses Short humerus<.Shortening of all distal phalanges of the toes/!obsolete Arterial disease of legsV/!Posterior radial head dislocation)Coalescence of tarsal bones%Absent distal phalanges Supernumerary ribs. Postaxial polysyndactyly of foot,Short middle phalanx of finger$Superior rib anomalies)Clinodactyly of the 2nd toe3%Mixed sclerosis of humeral metaphyses-Transient pulmonary infiltrates0"Maldevelopment of radioulnar joint(Flexion contracture of toe"Type B brachydactyly*Dysharmonic delayed bone age8*obsolete Joint swelling onset late infancy+obsolete Thumbs hypo/aplastic%8*obsolete Joint dislocations in young adult]D6Calcific stippling of infantile cartilaginous skeleton. Rounded middle phalanx of finger1#obsolete Bifid thumb distal phalanx%,Diffuse cerebral calcification/!Congenital talipes calcaneovalgus4&Limited elbow extension and supination5'Congenital foot contraction deformities)Multiple prenatal fractures+Ulnar radial head dislocation#Cervical spina bifida"Type E brachydactylyPseudoarthrosis+Opposable triphalangeal thumb'4-5 metacarpal synostosis*Metaphyseal enchondromatosis*Metaphyseal chondrodysplasia$Brachytelomesophalangy&Polysyndactyly of hallux-Increased dermatoglyphic whorls. Progressive flexion contractures0"Multiple small vertebral fractures>0Enlarged sagittal diameter of the cervical canal4&Congenital finger flexion contractures,Metacarpophalangeal synostosis Spinal instability%Dermatoglyphic variants>0Absent ossification of cervical vertebral bodies$Aphalangy of the hands,Hyperostosis cranialis interna(Progressive forearm bowing0"Proximal tibial and fibular fusion&Double first metacarpals8*Radial deviation of thumb terminal phalanx- Severe generalized osteoporosis- obsolete Metaphyseal dysostosis/ !Fifth metacarpal with ulnar notchA 3obsolete Chronic recurrent multifocal osteomyelitis )Abnormal cervical curvature;-Delayed pneumatization of the mastoid processE7Rhomboid or triangular shaped 5th finger middle phalanxBiliary atresia6(Abnormal metacarpal epiphysis morphology?1Aplasia/Hypoplasia involving the metacarpal bones,Abnormal metacarpal morphology,Supernumerary metacarpal bones0"Abnormal finger phalanx morphologyH :Abnormal epiphysis morphology of the phalanges of the hand:!,obsolete Abnormal ossification of hand bones)&"Abnormal hand morphology1##Abnormal hand metaphysis morphology0$"Abnormal hand epiphysis morphology0%"Abnormal hand diaphysis morphology4&&Abnormal hand cortical bone morphology<'.Aplasia/hypoplasia involving bones of the hand-(Synostosis involving the fibula,)Synostosis involving the tibia+*Abnormal epiphysis morphology=,/Abnormal renal corticomedullary differentiation,.Imperfect vocal cord adduction;2-Abnormal respiratory motile cilium morphology/3!Multiple bilateral pneumothoraces,5Intermittent hyperpnea at rest36%Desquamative interstitial pneumonitis 7Respiratory arrest%8Bilateral lung agenesis#9Laryngeal obstruction::,Ventilator dependence with inability to wean0;"Decreased sensitivity to hypoxemia&<Multiple pulmonary cysts(=Apneic episodes in infancy> Laryngeal web-?Progressive inspiratory stridor3@%obsolete Decreased pulmonary function 1B#Pulmonary capillary hemangiomatosis0D"Anteroposteriorly shortened larynx%EBreathing dysregulation&GImpaired gluconeogenesisIHypoargininemia&LIntermittent hypothermia6O(Mixed respiratory and metabolic acidosis%PTemperature instability"TRespiratory acidosis"UFructose intolerance#VEpisodic ketoacidosis-XHyperkalemic metabolic acidosis/Y!Hypochloremic metabolic alkalosis'ZType II diabetes mellitus$[Metabolic ketoacidosis5^'Reduced phenylalanine hydroxylase level@`2obsolete Elevated maternal serum alpha-fetoprotein,'bLimitation of neck motion!cMultinodular goiter-dCongenital muscular torticollis!eRedundant neck skin fThyroid hypoplasia"gLimited neck flexionjNodular goiter2k$Decreased adipose tissue around neck$mNeck joint contractureoUreteral atresia"pUreteral obstruction2v$Hypotrophy of the small hand muscles&xUnilateral brachydactylyy Broad phalanx!{Cuboidal metacarpal&|Widened metacarpal shaft,~Abnormally shaped carpal bones8*Delayed phalangeal epiphyseal ossification:,Reduced proximal interphalangeal joint spaceRounded epiphyses0"Metaphyseal cupping of metacarpals7)Cone-shaped epiphyses of phalanges 2 to 5$Long second metacarpal"Y-shaped metacarpals%Short pointed phalanges,Distal widening of metacarpals. Metacarpal periosteal thickening'Ulnar deviated club hands. Cone-shaped metacarpal epiphyses1#Tombstone-shaped proximal phalanges. Limited interphalangeal movement2$Multiple carpal ossification centers7)obsolete Severe carpal ossification delay3%Metacarpophalangeal joint contracture4&Absent proximal finger flexion creases&Thin metacarpal cortices6(1-5 finger complete cutaneous syndactyly"Palmar hyperhidrosis$Malaligned carpal bone(Finger joint hypermobility,Wide tufts of distal phalanges*3-4 finger osseus syndactyly:,Metacarpophalangeal joint hyperextensibilityFinger syndactyly#Absent trapezoid bone&Fingerpad telangiectases!Tapered metacarpals&Absent phalangeal crease?1Shortening of all middle phalanges of the fingers@2Expanded phalanges with widened medullary cavities%Multiple palmar creases?1Shortening of all distal phalanges of the fingers. Proximal tapering of metacarpalsAcral ulceration-Long proximal phalanx of finger*Drumstick terminal phalanges+Enlarged metacarpal epiphyses'Decreased finger mobility-Bilateral postaxial polydactyly6(Premature fusion of phalangeal epiphyses,Abnormal finger flexion creaseA3Shortening of all proximal phalanges of the fingers)Central Y-shaped metacarpal(Broad metacarpal epiphyses3%Progressive fusion 2nd-5th pip joints)Increased laxity of fingers7)Swan neck-like deformities of the fingers-Proximal symphalangism of hands0 "obsolete Disharmonious carpal boneq$ Long phalanx of finger& Ulnar deviation of thumb. Prominent palmar flexion creases6(obsolete Finger joint hyperextensibility(Mesoaxial hand polydactyly#Irregular metacarpals:,Short metacarpals with rounded proximal ends<.Soft tissue swelling of interphalangeal joints1#Enlarged metacarpophalangeal joints4&Proportionate shortening of all digits&Tubular metacarpal bones7)Prominent proximal interphalangeal joints0"Decreased mobility 3rd-5th fingers)Chess-pawn distal phalanges?1Flattened, squared-off epiphyses of tubular bones7)Metacarpal diaphyseal endosteal sclerosis7)Proximal phalangeal periosteal thickening> 0Two carpal ossification centers present at birth2#$Pseudoepiphyses of second metacarpal"$Crowded carpal bones&(Decreased palmar creases6)(Enlarged proximal interphalangeal joints5+'obsolete Fusion of midphalangeal joints&-*-Prominent interdigital folds&.Radially deviated wrists /Deep palmar crease'0Tapered phalanx of finger51'Thimble-shaped middle phalanges of hand&8Widened distal phalanges<9.Hypermobility of distal interphalangeal joints%:Osteolysis of scaphoids@;2Decreased movement range in interphalangeal joints!=Irregular phalangesD>6Hypersegmentation of proximal phalanx of second finger'?Partial fusion of carpals7@)Metaphyseal cupping of proximal phalanges7A)Partial-complete absence of 5th phalanges$BPostaxial oligodactylyFE8Thin proximal phalanges with broad epiphyses of the hand;H-Single interphalangeal crease of fifth finger@I2Limited mobility of proximal interphalangeal joint>P0Tapering pointed ends of distal finger phalanges?R1Osteoarthritis of the first carpometacarpal joint#TValgus hand deformity%VUnilateral oligodactylyBX4Expanded metacarpals with widened medullary cavities@Y2Osteoarthritis of the distal interphalangeal joint/Z!Osteolysis involving tarsal bones!\Slender metacarpals.] Prominent interphalangeal joints<_.Shortening of all middle phalanges of the toes$cPhalangeal dislocation-gEnlarged interphalangeal joints$hLimited wrist movement%kLimited wrist extension,lInterphalangeal joint erosions9m+Swelling of proximal interphalangeal jointsBn4Elevated circulating alpha-fetoprotein concentration0p"Abnormality of hand joint mobility5q'Abnormality of carpal bone ossification>u0Abnormal phalangeal joint morphology of the hand2v$Aplasia/Hypoplasia of the 5th finger<w.Abnormality of the epiphyses of the 2nd finger2x$Aplasia/Hypoplasia of the 2nd finger+yAplasia/Hypoplasia of fingerszSmall placenta{Large placenta&|Fluctuating splenomegaly ~Hypoplastic spleen)Pancreatic lymphangiectasis+Reduced pancreatic beta cells%Hyperechogenic pancreas$Pancreatic hyperplasia'Ectopic pancreatic tissue#Beta-cell dysfunction"Chronic pancreatitis5'Generalized hypoplasia of dental enamel&Multiple unerupted teeth'Enamel hypomineralization5'Yellow-brown discoloration of the teeth(Advanced eruption of teeth)Agenesis of central incisor)Discolored lateral incisors9+Marked delay in eruption of permanent teeth,Abnormality of dental eruption3%Agenesis of maxillary central incisorEnamel hypoplasia8*Prolonged bleeding after dental extraction/!Dagger-shaped pulp calcifications$Widely-spaced incisors(Atrophy of alveolar ridges%Generalized microdontia)Widely spaced primary teeth7)Solitary median maxillary central incisor&Irregularly spaced teeth3%Multiple non-erupting secondary teeth-Premature loss of primary teeth8*Buried teeth encased in mucopolysaccharide)Alveolar process hypoplasia0"Rotated maxillary central incisors-Supernumerary maxillary incisor(Crowded maxillary incisors-Hypoplasia of the primary teeth*Persistence of primary teethShort dental root3%Premature eruption of permanent teeth1#Malformation of mandibular premolar(Conical mandibular incisor3%Peg-shaped maxillary lateral incisors/!Abnormal primary molar morphology)Screwdriver-shaped incisors*Microdontia of primary teeth)Agenesis of permanent teethPulp obliteration4&Failure of eruption of permanent teeth*Hypoplasia of the tooth germ4&Agenesis of mandibular central incisor/!Premature loss of permanent teeth6(Shovel-shaped maxillary central incisors)Irregular femoral epiphysis-Varus deformity of humeral neck*Adductor longus contractures!Crumpled long bones'Forearm reduction defects Irregular patellae/!Distal ulnar epiphyseal stippling'Broad long bone diaphyses#Dumbbell-shaped femur#Limited elbow flexion$Osteolysis of patellae(Proximal tibial hypoplasia&Knee flexion contracture Rudimentary fibula. Progressive bowing of long bones&Club-shaped distal femurShort lower limbs1#Hypoplastic distal radial epiphyses,Wide distal femoral metaphysis"Limited knee flexion$Anterior tibial bowing&Overtubulated long bones-Increased density of long bones5'Limited pronation/supination of forearm. Lateral displacement of patellae+Flat distal femoral epiphysis#Absent knee epiphyses(Distal shortening of limbs(Club-shaped proximal femur0"Irregular distal femoral epiphysis#Distal tapering femur$ Progressive leg bowing% Broad tibial metaphyses"Distal tibial bowing1#Cortically dense long tubular bones%Wide femoral metaphysis)Asymmetric radial dysplasiaE7Peg-like central prominence of distal tibial metaphysesElongated radius*Rudimentary to absent tibiae Broad femoral neck=/Abnormal proximal femoral metaphysis morphology1 #Trapezoidal distal femoral condyles!Radial dysplasia+"Hypoplasia of proximal radius.$ obsolete Shortening of the tibiahG%9Disproportionate prominence of the femoral medial condyle9&+Enlargement of the distal femoral epiphysis$'Radioulnar dislocation6((Increased density of long bone diaphyses-)Lateral humeral condyle aplasia+*Hypoplasia of proximal fibula+Patellar aplasia .Dysplastic patella11#Distal radial epiphyseal osteolysisE27Multicentric ossification of proximal femoral epiphyses65(Lateral displacement of the femoral head+6Delayed patellar ossification18#Irregular proximal tibial epiphyses(;Dorsal subluxation of ulna(<Increased laxity of ankles-=Proximal femoral epiphysiolysis/>!Generalized bone demineralization(?Rickets of the lower limbs9A+Periosteal thickening of long tubular bones'BAnkle flexion contracture'CLimited shoulder movement&FThin long bone diaphyses!GFixed elbow flexion+IAnterior bowing of long bones7L)Abnormality of the pancreatic islet cells0M"Abnormal alveolar ridge morphology-OAbnormal dental pulp morphology%PPremature loss of teeth*QAbnormality of primary teeth(RAbnormal dental morphology&SAbnormal number of teeth!UAgenesis of incisor-VAbnormal dental root morphology&WBowing of the long bonesXBowing of the arm4Y&Abnormal femoral metaphysis morphology7Z)Abnormal lower-limb metaphysis morphology3[%Abnormal tibial metaphysis morphology.\ Aplasia/Hypoplasia of the fibulaC]5Aplasia/hypoplasia involving bones of the lower limbs<^.Aplasia/Hypoplasia involving bones of the feet,_Aplasia/Hypoplasia of the ulnaC`5Aplasia/hypoplasia involving bones of the upper limbs/b!Aplasia/Hypoplasia of the patella3c%Abnormal femoral epiphysis morphology6d(Abnormal lower limb epiphysis morphology.e Aplasia/Hypoplasia of the radius;f-Aplasia/Hypoplasia involving the carpal bones8g*Aplasia/hypoplasia involving forearm bones?h1obsolete Anomaly of the limb diaphyses morphology0i"Abnormal limb epiphysis morphology/k!Aplasia/hypoplasia of the humerus-lAbnormality of tibial epiphyses'mDiverticulosis of trachea+nChronic pulmonary obstructionoLaryngeal stridor2r$Intraalveolar nodular calcifications&sInterstitial pneumonitis*tHypersensitivity pneumonitis5u'Intraalveolar phospholipid accumulation(vPulmonary venous occlusion%wAlveolar cell carcinoma7x)Progressive pulmonary function impairment(yPulmonary lymphangiectasia%zRepeated pneumothoraces-|Tracheobronchial leiomyomatosis0}"obsolete Lung segmentation defects50"Lymphocytic interstitial pneumonia"Chronic lung disease+Abnormal pulmonary lymphatics8*Abnormal pulmonary interstitial morphology&Pleural lymphangiectasia!Recurrent pneumoniaBronchodysplasia1#Recurrent intrapulmonary hemorrhage Airway obstruction3%Recurrent bronchopulmonary infections,Bronchial cartilage hypoplasiaD6obsolete Chronic obstructive airway disease from birthn&Cardiorespiratory arrest0"Extrapulmonary lobar sequestration2$Pulmonary arteriovenous malformation5'Unilateral primary pulmonary dysgenesis&Fibrocystic lung disease#Acute hepatic failure'Diffuse hepatic steatosis&Polycystic liver diseaseJ0Decreased number of sternal ossification centers. Absent in utero rib ossification2$Anterior rib punctate calcifications+Costochondral joint sclerosis)Multifocal breast carcinoma)Absent sternal ossification5'Hypoplastic distal segments of scapulae&Glenoid fossa hypoplasia$Osteosclerosis of ribs-Sternal punctate calcifications#Midclavicular aplasia$Multiple rib fractures%Prominent floating ribs0"Large sternal ossification centers0"Fused sternal ossification centers Thoracic dysplasiaThin clavicles,Costal cartilage calcification$Congenital microthorax Costochondral pain=/Thickening of the lateral border of the scapula,Rib segmentation abnormalities&Hypoplasia of first ribs*Internally rotated shouldersAplastic clavicle& Coat hanger sign of ribs$ Twelfth rib hypoplasia/!Impaired myocardial contractility+Paroxysmal atrial tachycardia'Reduced systolic function#Prolonged QRS complex. Granulomatous coronary arteritis*Absent atrioventricular node/!Premature ventricular contraction*Abnormal ventricular fillingH:Ventricular preexcitation with multiple accessory pathways"Endocardial fibrosisAortic tortuosity$ Paroxysmal tachycardia$!Bacterial endocarditis&"Myocardial calcification##Pulmonic valve myxoma<$.Short chordae tendineae of the tricuspid valve"%Myocardial steatosisA&3Early progressive calcific cardiac valvular disease+'Atrioventricular canal defectA(3Polymorphic and polytopic ventricular extrasystoles2*$Dilatation of the ventricular cavity++Premature atrial contractions(.Coronary artery dissection-/Aplasia/Hypoplasia of the lungs10#Abnormal coronary artery morphology81*Abnormal atrioventricular valve morphology"2Cystic liver disease43&Abnormality of the hepatic vasculature/5!Aplasia/Hypoplasia of the nipples16#Aplasia/Hypoplasia of the clavicles>70Aplasia/Hypoplasia involving bones of the thorax,8Aplasia/Hypoplasia of the ribs09"Aplasia/Hypoplasia of the scapulae/:!Aplasia/Hypoplasia of the sternum-;Glomus tympanicum paraganglioma:<,Hereditary nonpolyposis colorectal carcinoma)=Peripheral neuroepithelioma2?$Benign gastrointestinal tract tumors*AAcute lymphoblastic leukemia'BSmall intestine carcinoid"CIntestinal carcinoid'EPancreatic adenocarcinoma2G$T-cell acute lymphoblastic leukemias+IRetroperitoneal paraganglioma*KFollicular thyroid carcinoma3L%Papillary renal cell carcinoma type 2+MAcute megakaryocytic leukemia$ORenal cortical adenoma+QExtraadrenal pheochromocytoma1S#Squamous cell carcinoma of the skin8T*Transitional cell carcinoma of the bladder&VCongenital neuroblastoma(WEmbryonal rhabdomyosarcoma&XAdrenocortical carcinoma"[Ganglioneuroblastoma&\Adrenal pheochromocytoma5]'Malignant gastrointestinal tract tumors%_Paraspinal neurofibroma%aNeoplasm of the stomach&cCutaneous leiomyosarcoma$dDiffuse leiomyomatosis1f#Malignant genitourinary tract tumor$jRenal pelvic carcinoma+kAnal canal squamous carcinomamChondrosarcoma,nPapillary renal cell carcinoma.o Pituitary prolactin cell adenoma%pLocalized neuroblastoma(qMyxoid subcutaneous tumors-rClear cell renal cell carcinoma%sDuodenal adenocarcinoma"tRenal angiomyolipoma$uCutaneous angiolipomas.v Ovarian papillary adenocarcinomawMultiple myeloma1z#Benign genitourinary tract neoplasm'{Alveolar rhabdomyosarcoma#|Parathyroid carcinoma*}Hurthle cell thyroid adenoma0~"Malignant eosinophil proliferation(Posterior pharyngeal cleft(Paranasal sinus hypoplasia,Limb-girdle muscular dystrophy*Mitochondrial encephalopathy5'Cerebral cortex with spongiform changes5'Loss of ability to walk in first decade!Basal ganglia cysts. Hyperactive deep tendon reflexes4&Abnormal anterior horn cell morphology!Vivid hallucination&Cerebral hypomyelinationOAWhite mater abnormalities in the posterior periventricular region&Focal hemiclonic seizure9+Aplasia/Hypoplasia of the cerebellar vermis%4-layered lissencephaly$Frontal polymicrogyria%Cranial nerve paralysis9+Pallor of dorsal columns of the spinal cord(Atrophy of the spinal cord'Severe muscular hypotonia9+obsolete Severe neonatal hypotonia in males;-Developmental stagnation at onset of seizures(Congenital Horner syndrome&Absent patellar reflexes"Acute encephalopathy2$Hypodysplasia of the corpus callosum,Hypoplasia of the ventral pons7)Symmetric spinal nerve root neurofibromas,Episodic generalized hypotonia'Cerebellar vermis atrophy,Impaired distal proprioception+Posterior leukoencephalopathy. Severe expressive language delayG9Sensorimotor polyneuropathy affecting arms more than legs4&Midline central nervous system lipomas%Lobar holoprosencephaly!Cerebral hypoplasia>0Symmetrical progressive peripheral demyelination2$obsolete Mental retardation, in some%Pontocerebellar atrophy)Cerebellar hemangioblastoma. Diffuse peripheral demyelination"Severe hydrocephalus1#Impaired distal vibration sensation2$Intellectual disability, progressive"Meningoencephalocele1#Intellectual disability, borderline#Thick cerebral cortex-Frontotemporal cerebral atrophy5'obsolete Severely dysplastic cerebellumy)Hypoplastic olfactory lobes#Lower limb hypertonia'Hypnopompic hallucinationAbducens palsy2$Fusion of the cerebellar hemispheres3%obsolete Impaired thermal sensitivity*M. Congenital peripheral neuropathy5'Late-onset spinocerebellar degeneration4&Congenital intracerebral calcification&Frontal cortical atrophy8*Inability to walk by childhood/adolescencebTIntraaxonal accumulation of curvilinear autofluorescent lipopigment storage material(Diffuse cerebral sclerosisI;obsolete Abnormal aggressive, impulsive or violent behavior$ Axial muscle stiffness;-obsolete Metachromatic leukodystrophy variant o'Unilateral polymicrogyria)Hypoglycemic encephalopathy/!Frontoparietal cortical dysplasia!Pericallosal lipoma*Transient psychotic episodes"Congenital nystagmus/!Impaired distal tactile sensation4&Impaired vibration sensation at ankles4&Diffuse spongiform leukoencephalopathy' Abolished vibration sense""Recurrent meningitis,%Episodic peripheral neuropathy"'Retrocerebellar cyst-+Olivopontocerebellar hypoplasia*,Lateral ventricle dilatation.- obsolete Loss of ability to walk 1.#Abnormal auditory evoked potentials./ Proximal spinal muscular atrophy*0Choroid plexus calcification"1Jerky head movements12#Gait instability, worse in the dark14#Cerebral cortical neurodegeneration.5 Acute necrotizing encephalopathy*:Periventricular leukomalacia(@Necrotizing encephalopathy ADeficit in grammar+BDysmyelinating leukodystrophy*CSleep-wake cycle disturbance-DProgressive leukoencephalopathy?G1obsolete Slowly progressive spastic quadriparesis <H.obsolete Distal sensory loss of all modalities Q#JUpper limb spasticity&LAlobar holoprosencephaly(MDysplastic corpus callosum&NMyelin-dependent gliosis*PAnterior basal encephalocele)RDiffuse leukoencephalopathy#WBasal ganglia gliosis%XMorning myoclonic jerks=Y/Loss of Purkinje cells in the cerebellar vermis%ZMotor axonal neuropathy(^Dorsal column degeneration-_Cavitation of the basal ganglia1a#Central nervous system degeneration*bPoor fine motor coordination(cFourth cranial nerve palsy+gPoor gross motor coordination,hCorticospinal tract hypoplasia'iProgressive forgetfulness6j(Attention deficit hyperactivity disorder,lProgressive spastic paraplegia mPain insensitivity0o"Antenatal intracerebral hemorrhage$pPseudobulbar paralysis)sPoorly formed metencephalon%uCerebral berry aneurysm+vNonprogressive encephalopathy"yCerebellar dysplasia'zGeneralized hyperreflexia${Anterior encephalocele+|Hypoplasia of olfactory tract4&Symmetric lesions of the basal ganglia,Chronic lymphocytic meningitis(Focal white matter lesions*Midline brain calcifications,Atrophy of the dentate nucleus!Large basal ganglia<.Multifocal cerebral white matter abnormalities$Proximal hyperreflexia(Poor hand-eye coordination5'Generalized cerebral atrophy/hypoplasiaC5Aplasia of the inferior half of the cerebellar vermis0"Progressive language deterioration?1Disorganization of the anterior cerebellar vermis,Proximal limb muscle stiffness2$Distal peripheral sensory neuropathy3%Inferior cerebellar vermis hypoplasia,Profound static encephalopathy#Thick corpus callosum. Extrapyramidal muscular rigidity>0Decreased amplitude of sensory action potentials4&obsolete Late-onset muscular dystrophy %Dilated third ventricle)Hyperactive patellar reflex3%Social and occupational deterioration4&obsolete Involuntary jerking movements8+Facial-lingual fasciculations4&obsolete Frontoparietal polymicrogyria1j+Hypoplasia of the optic tract&Cranial nerve motor loss(Paroxysmal choreoathetosis(Chiari type I malformation*Progressive ventriculomegaly;-Hypointensity of cerebral white matter on MRI7)Prolonged somatosensory evoked potentials&Infantile encephalopathy0"Segmental peripheral demyelination1#Demyelinating peripheral neuropathy#Periventricular cysts%Central hypoventilation,Chronic hepatic encephalopathy'Temporal cortical atrophy(Naso-orbital encephalocele)Corticospinal tract atrophy"Subcortical dementia!Proximal amyotrophy(Cerebellar medulloblastoma0"Acute demyelinating polyneuropathy#Pallidal degeneration/!Progressive peripheral neuropathy%Sensorimotor neuropathy-Bilateral basal ganglia lesions*Distal upper limb amyotrophy:,Progressive extrapyramidal movement disorder. Asymmetric limb muscle stiffness:,Progressive extrapyramidal muscular rigidity+Fluctuations in consciousness@2Diffuse demyelination of the cerebral white matterA3obsolete Corticospinal tract disease in lower limbs#Slowed slurred speech)Periventricular heterotopia#Paroxysmal dyskinesia" Motor polyneuropathy# Absent smooth pursuit( Interosseus muscle atrophy(Peripheral hypomyelination8*Focal T2 hyperintense basal ganglia lesion#Loss of consciousness!Focal lissencephaly(Congenital facial diplegia2$Neuronal loss in the cerebral cortex9+Bilateral tonic-clonic seizure on awakening-Progressive spastic paraparesis" Episodic hypersomnia-!Cerebral artery atherosclerosis0$"Diffuse white matter abnormalities &Hemimegalencephaly1'#Photosensitive tonic-clonic seizure$(Irregular myelin loops)Facial paralysis#*Lower limb amyotrophy-/Periodic hyperkalemic paralysis,4Demyelinating motor neuropathy(5Progressive truncal ataxia!;obsolete Macrogyria:=,Intracerebral periventricular calcifications=>/Decreased distal sensory nerve action potential:@,Spinocerebellar tract disease in lower limbs-AClusters of axonal regeneration,DRecurrent subcortical infarcts8F*Nonarteriosclerotic cerebral calcification'GCongenital encephalopathy%HProgressive gait ataxiaJQ70Congenital nonbullous ichthyosiform erythroderma=8/Decreased sweating due to autonomic dysfunction!9Hyperpigmented nevi+:Generalized papillary lesions6;(Depigmentation/hyperpigmentation of skin)=Absence of subcutaneous fat.> Cavernous hemangioma of the face"@Diffuse skin atrophy$ADiffuse telangiectasiaGB9Linear arrays of macular hyperkeratoses in flexural areasAF3Discrete 2 to 5-mm hyper- and hypopigmented macules)GPrematurely aged appearance@I2Focal friction-related palmoplantar hyperkeratosis1K#Recurrent staphylococcal infections.L Decreased number of sweat glandsGM9Streaks of hyperkeratosis along each finger onto the palm'NFollicular hyperkeratosis$OGeneralized ichthyosis'PDiffuse slow skin atrophy+QProgressive hyperpigmentation1R#Congenital absence of skin of limbs,TPunctate palmar hyperkeratosis0U"Patchy hypo- and hyperpigmentation-VFocal dermal aplasia/hypoplasia8W*Mottled pigmentation of photoexposed areas*YGeneralized hypopigmentation*ZEdema of the dorsum of hands-[Hypoplastic pilosebaceous units'\Redundant skin on fingers%]Palmoplantar cutis laxa8_*obsolete Lack of subcutaneous fatty tissue=1a#Irregular hyperpigmentation of back,bIncreased number of skin folds(dAtypical neurofibromatosisDe6Yellow subcutaneous tissue covered by thin, scaly skin0f"Hypopigmented skin patches on arms+iHidrotic ectodermal dysplasia2j$Punctate palmoplantar hyperkeratosis5n'Congenital posterior occipital alopecia#oHypopigmented streaks=p/Aplasia cutis congenita of midline scalp vertex%qSevere photosensitivity&uFrontal cutaneous lipoma6v(Absent pigmentation of the ventral chest&wEpidermal hyperkeratosis)xPiebald skin depigmentation4y&Congenital palmoplantar hyperkeratosis&zLinear hyperpigmentationE|7obsolete Palmoplantar keratosis with erythema and scale3}%Desquamation of skin soon after birth+~Hypohidrosis or hyperhidrosis;-Abnormal subcutaneous fat tissue distribution;-Congenital symmetrical palmoplantar keratosisA3Confetti hypopigmentation pattern of lower leg skin$Plantar hyperkeratosis4&Localized epidermolytic hyperkeratosis%Unusual dermatoglyphicsH:obsolete Telangiectases in sun-exposed and nonexposed skin)Multiple cafe-au-lait spots5'Index finger dermatoglyphic radial loop/!Generalized seborrheic dermatitis2$Hyperkeratosis lenticularis perstans$Hyperpigmented streaks*Late onset atopic dermatitis2$Generalized bronze hyperpigmentation!Palmar neurofibromaC5Mediosternal, longitudinal streak of hypopigmentation8*Telangiectasia macularis eruptiva perstans9+Skin fragility with non-scarring blistering5'Telangiectases producing 'marbled' skin)Numerous pigmented freckles)Reticular hyperpigmentation7)Aplasia cutis congenita on trunk or limbsB4Aplasia cutis congenita over posterior parietal area<.Aplasia/Hypoplasia of the eccrine sweat glands'Redundant skin in infancy*Painful subcutaneous lipomas;-obsolete Congenital palmoplantar keratodermiay8*Bilateral single transverse palmar creases7)Generalized reticulate brown pigmentation1#Midline facial capillary hemangioma3%Complex palmar dermatoglyphic pattern+Freckles in sun-exposed areas0"Excessive wrinkling of palmar skin-Multiple cutaneous malignancies/!Hypohidrotic ectodermal dysplasia+Abnormal palmar dermal ridges#Hypoproteinemic edema0"Blotching pigmentation of the skin2$Spinous keratoses of palms and soles#Nevus flammeus nuchae0"Fine, reticulate skin pigmentation(Subcutaneous calcification!Cutaneous leiomyoma1#Telangiectasia of extensor surfaces8*Pigmentation anomalies of sun-exposed skin&Mandibular osteomyelitis(Mandibular condyle aplasia+Mandibular condyle hypoplasia&Bilateral microphthalmos=/Nonarteritic anterior ischemic optic neuropathyDyschromatopsia3%Congenital stationary night blindness6(Peripheral tractional retinal detachment$Absent lower eyelashes3%Congenital extraocular muscle anomalyPunctate cataractB4Congenital hypertrophy of retinal pigment epithelium)Progressive ophthalmoplegia(Ectropion of lower eyelids(obsolete Retinal striation8*Eversion of lateral third of lower eyelids$Lacrimal gland aplasia&Diffuse nuclear cataract0"Large hyperpigmented retinal spotsE7obsolete Decreased retinal pigmentation with dispersion7)Abnormality of chorioretinal pigmentation#Reduced visual acuityCurly eyelashes5'Peripheral cystoid retinal degeneration9+Impaired pursuit initiation and maintenance. Abnormal vestibulo-ocular reflex)Progressive night blindness$Hypoplasia of the iris. Vitelliform-like macular lesions$Lacrimal duct stenosis Depigmented fundus1#Peripheral retinal avascularization)Abnormal pupillary functionUnilateral ptosisD6Undetectable light- and dark-adapted electroretinogram3 %Map-dot-fingerprint corneal dystrophy, obsolete Short curly eyelashesA 3obsolete Nonnuclear polymorphic congenital cataract-Abnormal pupillary light reflex-Hypoplasia of the lower eyelids9+obsolete Retinal pigment epithelial atrophy0"Ocular anterior segment dysgenesis2$obsolete Pigmentary retinal depositsD1#Abnormality of retinal pigmentation2$Paroxysmal involuntary eye movements"Corneal degeneration Congenital aphakia$Absent inner eyelashes+Band-shaped corneal dystrophy+Peripheral vitreous opacities* obsolete Choroidal dystrophy1!#obsolete Juvenile zonular cataracts*&#Weak extraocular muscles$Uveal melanoma/%!Chronic irritative conjunctivitis( Flat cornea/)!Saccular conjunctival dilatations0*"Retinal pigment epithelial atrophy5/'Opacification of the corneal epithelium0Congenital miosis#2Iris hypopigmentation%3Chorioretinal dysplasia'4Lacrimal gland hypoplasia&5Laterally curved eyebrow&6Enlarged lacrimal glands48&obsolete Pericentral retinal dystrophy59'Bone spicule pigmentation of the retina(:Uncontrolled eye movements3;%obsolete Mildly reduced visual acuity.< Long eyelashes in irregular rows,@obsolete Iridoretinal coloboma,CMonocular horizontal nystagmus,Dobsolete Irido-fundal coloboma%FHypoplasia of the foveaJMacular dystrophy3K%Juvenile epithelial corneal dystrophyCL5obsolete Slitlike anterior chamber angles in childrenR,Mobsolete Hypoplasia of choroidb3N%obsolete Congenital visual impairment1O#Opacification of the corneal stroma+PCrystalline corneal dystrophy!QPericentral scotoma$SRetinal telangiectasia#UDeep anterior chamber#VOptic disc hypoplasia8X*Central retinal vessel vascular tortuosity-YPeripheral retinal degeneration&ZHypoplasia of the retina%\Impaired smooth pursuit]Vitreoretinopathy,^Hypoplasia of the ciliary body$`Sparse lower eyelashes aChorioretinal scar2b$Posterior retinal neovascularization-cAnterior segment of eye aplasia+dCortical pulverulent cataract;f-obsolete Peripheral retinal cone degenerationYEg7obsolete Butterfly retinal pigment epithelial dystrophy5j'obsolete Lacunar retinal depigmentation,kPosterior subcapsular cataract>o0Patchy atrophy of the retinal pigment epithelium#pMicrosaccadic pursuit)qGranular macular appearance(sAnterior cortical cataract+uRetinal vascular malformation'vobsolete Foveal dystrophy5w'Conjunctival whitish salt-like deposits1x#Increased axial length of the globe3y%obsolete Fishnet retinal pigmentation(zGranular corneal dystrophy{ Monochromacy%Optic nerve compression1#obsolete Bilateral retinal coloboma(Punctate corneal dystrophy@2obsolete Progressive bifocal chorioretinal atrophy+Horizontal pendular nystagmus,Herpetiform corneal ulceration&Nongranulomatous uveitis1#Retinal pigment epithelial mottlingE7Abnormal distribution of retinal arterioles and venules0"Horizontal supranuclear gaze palsy#Central heterochromia!Presenile cataracts&Lacrimal punctal atresia%Central retinal exudate#Total ophthalmoplegiaB4obsolete Cataracts develop in second or third decade'Nodular corneal dystrophy8*obsolete Diffuse retinal cone degeneration)Adult-onset night blindnessA3Nonprogressive restrictive external ophthalmoplegia(Pigmentation of the sclera(Anterior chamber synechiae"Progressive cataract)S-shaped palpebral fissures&Mosaic corneal dystrophy Progressive ptosis"Long upper eyelashes6(Amyloid deposition in the vitreous humor2$Attenuation of retinal blood vessels,Retinal vascular proliferation7)obsolete Temporal displacement of maculae9+obsolete Pericentral pigmentary retinopathyD. Glaucomatous visual field defect2$Punctate opacification of the cornea#Chorioretinal lacunae-Congenital horizontal nystagmus#Retinal calcification Retinal infarction:,Restrictive partial external ophthalmoplegia7)obsolete Age-related macular degeneration-obsolete Peripheral retinopathy"Choroidal hemangioma3%Abnormally prominent line of Schwalbe-Almond-shaped palpebral fissure"Congenital blindness1#obsolete Juvenile cortical cataract%Allergic conjunctivitis(Marginal corneal dystrophy'Central corneal dystrophy(Slowed horizontal saccades(Absent extraocular muscles7)Iridescent posterior subcapsular cataract0"Hypoplasia of the lacrimal punctum7)obsolete Progressive retinal degeneration,Hypopigmentation of the fundus#Exudative retinopathy#Retinal nonattachment'Hypoplastic lacrimal duct+obsolete Retinal malformation!Vitreous hemorrhage. Paravenous chorioretinal atrophy'Abnormal iris vasculature!Ocular hypertensionB4obsolete Nonprogressive congenital retinal dystrophy)Congenital bilateral ptosis)Reticular retinal dystrophy6(Polymorphous posterior corneal dystrophy<.obsolete Small anterior lens surface opacities+Tractional retinal detachment9+obsolete Congenital chorioretinal dystrophyo2$Hypermyelinated retinal nerve fibers)obsolete Foveal hyperplasia,Slow decrease in visual acuity#Lacrimal duct aplasia5'Abnormal flash visual evoked potentials+Peripheral retinal detachment1#obsolete Prominent epicanthal folds,Bilateral congenital mydriasis#Broad lateral eyebrowA3Juvenile posterior subcapsular lenticular opacities2$Restrictive external ophthalmoplegia/!Reticular pigmentary degeneration$Blue cone monochromacy+Limited extraocular movements&Internal ophthalmoplegia)Congenital stapes ankylosis1#Intermittent microsaccadic pursuits- obsolete Choroidal degeneration1 #Unilateral narrow palpebral fissure. Pericentral retinitis pigmentosa/ !Dense posterior cortical cataract3 %obsolete Progressive macular scarring1#Peripapillary chorioretinal atrophy1#obsolete Bilateral choroid coloboma7Corneal opacity:,Optic atrophy from cranial nerve compression:,obsolete Rarefaction of retinal pigmentation(Speckled corneal dystrophy-Pattern dystrophy of the retina,Degenerative vitreoretinopathy3%Undetectable visual evoked potentials5 'Remnants of the hyaloid vascular system"Congenital ptosis#Lamellar cataract%Retinal dysplasia,'Hypometric horizontal saccades(Cerulean cataract.+ Gaze-evoked horizontal nystagmus/,!Absent retinal pigment epithelium;--obsolete Concentric narrowing of visual fieldm6.(obsolete Central tapetoretinal dystrophy/0!Electronegative electroretinogram*1Retinal arteriolar occlusion+2Increased retinal vascularity.3 Progressive visual field defects&4Macular hypopigmentation"5Intraretinal exudate%6Hypoplastic iris stroma*8Lattice retinal degeneration%9Malformed lacrimal duct*:Peripheral visual field loss&@Decreased corneal reflex&AFoveal hyperpigmentation1B#Abnormality of macular pigmentation,CJerky ocular pursuit movements3E%obsolete Congenital corneal dystrophyk)GPrimary congenital glaucoma6H(obsolete Progressive central visual loss%IThree rows of eyelashes4K&Peripheral opacification of the cornea(Lobsolete Congenital myopia6N(Central fundal arteriolar microaneurysmsLQ>obsolete Depigmented lesions of the retinal pigment epithelium'SSuperior lens subluxationTCone dystrophy2X$obsolete Congenital nuclear cataract0Z"Horizontal opticokinetic nystagmus*\Cystoid macular degeneration^Retinal arteritis*_Posterior Y-sutural cataract+aobsolete Congenital exotropiaA(bAbnormal iris pigmentation*cRetinitis pigmentosa inversa)dobsolete Rod-cone dystrophy0e"Absent anterior chamber of the eye2f$Aplastic/hypoplastic lacrimal glands-gSubepithelial corneal opacities,iLate onset congenital glaucoma-kRetinal arteriolar constriction5m'Enlarged flash visual evoked potentials2n$Abnormal retinal vascular morphology7o)Abnormality of the vasculature of the eye2p$Abnormal line of Schwalbe morphology4q&Abnormality of the extraocular muscles3r%Abnormality of the palpebral fissuresDs6obsolete Abnormality of the retinal pigment epitheliumt Retinal fold,uAplasia/Hypoplasia of the irisAv3Abnormal morphology of the conjunctival vasculature3w%Aplasia/Hypoplasia affecting the uvea2x$Aplasia/Hypoplasia affecting the eye5y'Aplasia/Hypoplasia affecting the fundus3z%Aplasia/Hypoplasia of the optic nerve.{ Aplasia/Hypoplasia of the macula-|Aplasia/Hypoplasia of the fovea.} Aplasia/Hypoplasia of the retinaJ~ 0Insulin-dependent but ketosis-resistant diabetes+ Primary adrenal insufficiency% Parathyroid hyperplasia- Premature ovarian insufficiency" Parathyroid agenesis% Gonadotropin deficiency' Decreased serum estradiol& Adrenal gland dysgenesis! Adrenal hyperplasia Female infertility( Compensated hypothyroidism, !Thyroid follicular hyperplasia$ "Androgen insufficiency5 #'Pituitary resistance to thyroid hormone& %Thyroid lymphangiectasia6 &(obsolete Decreased testosterone in males. ' Macronodular adrenal hyperplasiaE (7Elevated circulating follicle stimulating hormone level0 )"Decreased circulating progesterone* ,Isosexual precocious puberty) -Hypothalamic hypothyroidism* /Adrenal medullary hypoplasia1 0#Secondary growth hormone deficiency% 2Pseudohypoaldosteronism+ 4Congenital adrenal hypoplasia& 5Pituitary hypothyroidism) 7Euthyroid hyperthyroxinemia! 9Thyroid hyperplasia. : obsolete Infantile hypercalcemia  ;Congenital goiter2 ?$Transient neonatal diabetes mellitus$ @Adrenocortical adenoma, BCongenital adrenal hyperplasia1 C#Adrenocorticotropin receptor defect+ EPancreatic islet cell adenomaF G8Thyroid defect in oxidation and organification of iodide) HNeutrophil inclusion bodies3 I%Mitochondrial lysine transport defect: M,Increased red cell hemolysis by shear stress) OAbnormal cartilage collagen3 P%Renal tubular lysine transport defect% QTransient aminoaciduria6 S(Abnormal light-adapted electroretinogram/ U!Abnormal blood zinc concentration) VCerebellar cortical atrophy& WTransient hyperlipidemia" YAcute hyperammonemia- ZUnconjugated hyperbilirubinemia& [Fasting hyperinsulinemia( ]Transient hypophosphatemia( `Nonketotic hyperglycinemia4 b&Partial complement factor H deficiency2 c$Pituitary corticotropic cell adenoma. e Long-chain dicarboxylic aciduria- iTransient hyperphenylalaninemia1 m#Dermatan sulfate excretion in urine" oOlivary degeneration, qExercise-induced myoglobinuria6 r(Abnormal iron deposition in mitochondria0 u"Medium chain dicarboxylic aciduria7 w)Spinal cord posterior columns myelin loss< z.Decreased activity of mitochondrial complex II- {Decreased plasma free carnitine4 |&Abnormal mitochondria in muscle tissue5 ~'Elevated leukocyte alkaline phosphatase< .Impaired collagen-induced platelet aggregation' Reduced factor X activity/ !Abnormal mitochondrial morphology@ 2Abnormal light- and dark-adapted electroretinogram8 *Reduced circulating vitamin B6 circulating* Microscopic nephrocalcinosis4 &Reduced von Willebrand factor activity5 'Elevated creatine kinase after exercise* obsolete Renal aminoaciduria & Complex organic aciduria? 1Partial functional complement factor D deficiency Diaminoaciduria+ Distal renal tubular acidosisJ 0Absent in utero ossification of vertebral bodies' Absent/hypoplastic coccyx& Bifid thoracic vertebrae$ Vertebral arch anomaly" Lumbar hemivertebrae) C1-C2 vertebral abnormality1 #Herniation of intervertebral nuclei$ Vertebral hyperostosis, Neuropathic spinal arthropathy3 %Posterior wedging of vertebral bodies, Cervical spinal canal stenosis- Hypoplastic coccygeal vertebrae9!+Progressive cervical vertebral spine fusion6!(Narrow vertebral interpedicular distance,!Posterior vertebral hypoplasia&!Wafer-thin platyspondyly'!Congenital kyphoscoliosis!Lumbar kyphosis!Dysplastic sacrum!C2-C3 subluxation-! Caudal interpedicular narrowing.! Progressive congenital scoliosis)! Cervical vertebral agenesis*! Hypoplastic spinal processes1! #Cervical vertebral facet hypoplasia"!Cervical instability*!Central vertebral hypoplasiaM!?Absent spinous processes of lower thoracic and lumbar vertebrae!Absent vertebra$!Thoracic hemivertebrae*!Abnormal sacral segmentation*!Cervical vertebral dysplasia7!)Lower thoracic interpediculate narrowness)!Prominent protruding coccyx>!0Narrow anterio-posterior vertebral body diameter*!Hypoplastic sacral vertebrae+!Irregular sclerotic endplates0!"Poorly ossified cervical vertebrae0!"Scheuermann-like vertebral changes*!Hypoplastic vertebral bodies"! Cervical spondylosis.!" Asymmetry of spinal facet jointsO!#ACervical vertebral bodies with decreased anteroposterior diameter6!$(Thoracolumbar interpediculate narrowness-!&Lumbar interpedicular narrowing3!(%Anterior rounding of vertebral bodies(!)Spondylolisthesis at L5-S1(!*Sacral segmentation defect1!+#Premature anterior fontanel closure'!.Inferior lens subluxation(!0Multiple rows of eyelashes0!1"Congenital craniofacial dysostosis-!2obsolete No permanent dentition !3High hypermetropia2!5$obsolete Median cleft lip and palate#7!8)Moderate sensorineural hearing impairment%!;Static ophthalmoparesis%!=Aged leonine appearance/!?!Central posterior corneal opacity5!A'Bilateral conductive hearing impairment1!C#Aplasia/Hypoplasia of the vertebrae<!D.Abnormality of the vertebral spinous processes.!E Aplasia/Hypoplasia of the sacrum?!F1Aplasia/Hypoplasia involving the vertebral column(!GAbnormal coccyx morphology!!KPosterior helix pit9!O+Congenital sensorineural hearing impairment4!P&Long hairs growing from helix of pinna(!QAbsence of acoustic reflex8!Y*Cleft at the superior portion of the pinna'!]Superiorly displaced ears(!^Low-frequency hearing loss%!`Abnormally folded helix!gMicrotia#!jCochlear malformation(!kAbsent vestibular function(!oHypoplastic superior helix"!xVestibular areflexia%!yMicrotia, second degree0!|"obsolete External ear malformationy<!}.Low-frequency sensorineural hearing impairment!Underfolded helix*!Underfolded superior helices'!Hypoplasia of the cochlea2!$Mild neurosensory hearing impairment?!1Slit-like opening of the exterior auditory meatus!!Hypoplastic helices6!(Congenital conductive hearing impairment"!Prominent antitragus:!,Postlingual sensorineural hearing impairment0!"Mild conductive hearing impairment/!!Unilateral external ear deformity !Supraauricular pit7!)Progressive conductive hearing impairment.! Hypertrophic auricular cartilage,!Abnormal middle ear morphology8!*Infantile sensorineural hearing impairment:!,Adult onset sensorineural hearing impairment8!*Bilateral sensorineural hearing impairment5!'Severe sensorineural hearing impairment(!Abnormal stapes morphology !Pulsatile tinnitus!!Ureteral dysgenesis! Agonadism.! Urinary bladder wall hypertrophy-!obsolete Lobular glomerulopathy !Gonadal hypoplasia'!Congenital macroorchidism!!Nephroblastomatosis7!)Pubertal developmental failure in females2!$Anteriorly displaced urethral meatus8!*Uric acid urolithiasis independent of gout,!Autonomic erectile dysfunction+!Crescentic glomerulonephritis6!(Aplasia/Hypoplasia of the fallopian tube3!%Incomplete male pseudohermaphroditism2!$Multiple small medullary renal cysts$!Renotubular dysgenesis!Urethral stenosis! Renal sarcoma*!Urethral sphincter sclerosis"!Clitoral hypertrophy9!+Impaired histidine renal tubular absorption&!Gonadal dysgenesis, male&!Abnormal spermatogenesis$!Partial vaginal septum-!Calcium oxalate nephrolithiasis)!Enlarged polycystic ovaries#!Congenital megaureter+!Congenital nephrotic syndrome&!Renal hypoplasia/aplasia/!!Renal tubular epithelial necrosis#!Enlarged labia minora.! Aplasia/hypoplasia of the uterus(!Hypoplasia of the prostate&!Bilateral cryptorchidism+!Solitary bladder diverticulum0!"obsolete Hypertrophic labia minora!*!Transient nephrotic syndrome!Renal hamartoma.! Hypoplasia of the fallopian tube'!Absent internal genitalia#!Gonadal calcification#"Ureteral triplication)"Distal urethral duplication"Absent scrotum5"'Partial development of the penile shaft*"Benign prostatic hyperplasia%" Ureterovesical stenosis#" Testicular dysgenesis$" Urethrovaginal fistula&" Unilateral renal atrophy("Unilateral renal dysplasia("Primary testicular failure#"Urethral diverticulum="/Gonadal dysgenesis with female appearance, male%"Hypoplasia of the ovary&"Hypoplasia of the vagina%"Absence of labia majoraJ""t0Absent ossification of capital femoral epiphysis'"uHypoplastic inferior ilia+"vHypoplastic ischiopubic ramus-"wInferior pubic ramus hypoplasia$"xHypoplastic iliac body6"z(obsolete Dislocation of the femoral head >"|0Delayed proximal femoral epiphyseal ossification/"}!Delayed femoral head ossification%"~Hypoplastic pubic ramus'"Irregular acetabular roof4"&Multicentric femoral head ossification?"1Stippled calcification proximal humeral epiphyses "Hypoplastic pelvis "Hip osteoarthritis%"Mesomelic short stature4"&Severe intrauterine growth retardation&"Moderately short stature1"#Severe postnatal growth retardation3"%Moderate postnatal growth retardation0""Neonatal short-trunk short statureA"3Failure to thrive secondary to recurrent infections-"Feeding difficulties in infancy7")Disproportionate short-limb short stature2"$Mild intrauterine growth retardation!"Adipose tissue loss("Severe short-limb dwarfism*"Postnatal growth retardation" Rhizomelia/"!Lethal short-limbed short stature-"Childhood-onset truncal obesity/"!Neonatal short-limb short stature7")Childhood-onset short-trunk short stature&"Asymmetric short stature,"Generalized neonatal hypotonia"Axial hypotonia)"Generalized lymphadenopathy""Acute rhabdomyolysis*"Distal lower limb amyotrophy8"*Loss of ability to walk in early childhood&"Pelvic girdle amyotrophy*"Infantile muscular hypotonia,"Proximal upper limb amyotrophy("Shoulder muscle hypoplasia)"Pectoralis major hypoplasia+"Intrinsic hand muscle atrophy1"#Progressive distal muscular atrophy,"Proximal lower limb amyotrophy/"!Distal upper limb muscle weakness$#Calf muscle hypoplasia&#Tibialis muscle weakness-#Nonprogressive muscular atrophy/#!Exercise-induced muscle stiffness9#+Muscle hypertrophy of the lower extremities"# Leg muscle stiffness/# !Scapulohumeral muscular dystrophyC# 5Decreased activity of mitochondrial respiratory chain"#Necrotizing myopathy%#Calf muscle hypertrophy$#Neck muscle hypoplasia)#Increased intramuscular fat'#Agenesis of the diaphragm*#Pelvic girdle muscle atrophy)#Exercise-induced leg cramps*#!Increased intraabdominal fat5#"'Proximal muscle weakness in lower limbs5#%'Proximal muscle weakness in upper limbs##&Pectoralis hypoplasia9#*+Loss of truncal subcutaneous adipose tissue;#+-Increased subcutaneous truncal adipose tissue+#,Hypoplasia of the musculature4#-&Weakness of the intrinsic hand muscles#/Biceps hypoplasia4#3&Hypoplasia of serratus anterior muscle3#5%Congenital absence of gluteal muscles*#8Upper limb muscle hypoplasia9#9+Loss of gluteal subcutaneous adipose tissue7#;)Progressive loss of facial adipose tissue-#<Exercise-induced muscle fatigue,#?Abdominal wall muscle weakness)#AIncreased connective tissue3#B%Hypoplasia of latissimus dorsi muscle'#CFoot dorsiflexor weakness2#D$Generalized weakness of limb muscles-#GAmyotrophy of ankle musculature/#M!Segmental spinal muscular atrophy2#R$obsolete Marked muscular hypertrophy3#T%obsolete Hypoplasia of deltoid musclev!-#UExercise-induced rhabdomyolysis #VDifficulty running%#YPeroneal muscle atrophy'#ZQuadriceps muscle atrophy/#[!Increased muscle glycogen content/#]!Distal lower limb muscle weakness&#^Scapuloperoneal myopathy-#_Generalized limb muscle atrophyB#`4Loss of subcutaneous adipose tissue from upper limbs,#bIncreased muscle lipid content2#c$Congenital generalized lipodystrophy%#dScapular muscle atrophy'#fInfantile axial hypotonia0#g"Progressive distal muscle weakness'#hGeneralized lipodystrophy1#k#Progressive spinal muscular atrophy5#m'Lethal infantile mitochondrial myopathy##oInflammatory myopathy'#pDecreased Achilles reflex2#q$Progressive proximal muscle weakness6#u(Weakness of long finger extensor muscles3#|%Midline notch of upper alveolar ridge'#}Alveolar ridge overgrowth'#Posteriorly placed tongue.# Speech articulation difficulties1##obsolete Facial diplegic appearance4#&Progressive alveolar ridge hypertrophy(#Cleft lower alveolar ridge&#Chronic oral candidiasis!#Median cleft palate,#Thick anterior alveolar ridges!#Submucous cleft lip-#Anterior open-bite malocclusion5#'Aplasia/Hypoplasia involving the pelvis2#$Aplasia/Hypoplasia of the pubic bone5#'Abnormal ossification of the pubic bone/#!Abnormal pelvis bone ossificationG#9Abnormal ossification involving the femoral head and neckD#6Aplasia/Hypoplasia involving the femoral head and neck*#Denervation of the diaphragm'#Diaphragmatic eventration/#!Aplasia of the left hemidiaphragm$#Diaphragmatic weakness7#)Aplasia/hypoplasia involving the skeleton=#/Aplasia/Hypoplasia involving bones of the skull/#!Aplasia/Hypoplasia of the maxilla0#"Aplasia/Hypoplasia of the mandible7#)Aplasia/Hypoplasia of the frontal sinuses6#(Aplasia/Hypoplasia involving the sinuses0#"Abnormal axial skeleton morphologyF#8Aplasia/hypoplasia affecting bones of the axial skeleton;#-Mixed hypo- and hyperpigmentation of the skin0#"Abnormal adipose tissue morphology# Lipodystrophy&#Increased adipose tissue9#+Abnormality of the musculature of the limbsM#?Aplasia/Hypoplasia involving the musculature of the extremities##Upper limb amyotrophy!#Hand muscle atrophy:#,Abnormality of the musculature of the thorax2#$Abnormal tarsal bone mineral density4#&Osteolysis involving bones of the feet5#'Duplication involving bones of the feet;#-Synostosis involving bones of the lower limbs;#-Osteolysis involving bones of the lower limbs4#&Synostosis involving bones of the feet=#/Depletion of mitochondrial DNA in muscle tissueB#4Duplication of bones involving the upper extremities7#)Supernumerary bones of the axial skeleton1##Abnormal cerebral artery morphologyH#:Enlarged epiphysis of the distal phalanx of the 5th fingerE#7Small epiphysis of the distal phalanx of the 5th fingerJ#Triangular epiphysis of the proximal phalanx of the 5th fingerM#?Cone-shaped epiphysis of the proximal phalanx of the 5th fingerG#9Ivory epiphysis of the proximal phalanx of the 5th fingerJ#Contracture of the metacarpophalangeal joint of the 5th fingerG#9Bracket epiphysis of the distal phalanx of the 5th fingerE#7Pseudoepiphysis of the distal phalanx of the 5th finger7#)Fragmentation of the metacarpal epiphyses4#&Irregular epiphyses of the metacarpals0#"Ivory epiphyses of the metacarpalsJ#$ 0Bullet-shaped proximal phalanx of the 5th finger7$ )Curved proximal phalanx of the 5th fingerJ$Symphalangism affecting the proximal phalanx of the 5th fingerB$4Triangular shaped proximal phalanx of the 5th finger]$OSymphalangism of the proximal phalanx of the 5th finger with the 5th metacarpalG$9Rhomboid or triangular shaped 5th finger proximal phalanx$Short 5th finger'$Aplasia of the 5th fingerH$:Aplasia/Hypoplasia of the distal phalanx of the 5th finger4$&Broad distal phalanx of the 5th finger<$.Bullet-shaped distal phalanx of the 5th fingerH$:Osteolytic defects of the distal phalanx of the 5th fingerF$8Patchy sclerosis of the distal phalanx of the 5th finger7$)Distal/middle symphalangism of 5th finger@$2Triangular shaped distal phalanx of the 5th finger=$/Aplasia of the distal phalanx of the 5th fingerR$DAbnormality of the epiphysis of the middle phalanx of the 4th fingerT$ FAbnormality of the epiphysis of the proximal phalanx of the 4th fingerR$!DAbnormality of the epiphysis of the distal phalanx of the 4th fingerF$"8Absent epiphysis of the distal phalanx of the 4th fingerG$#9Bracket epiphysis of the distal phalanx of the 4th fingerK$$=Cone-shaped epiphysis of the distal phalanx of the 4th fingerH$%:Enlarged epiphysis of the distal phalanx of the 4th fingerT$&FFragmentation of the epiphysis of the distal phalanx of the 4th fingerI$';Irregular epiphysis of the distal phalanx of the 4th fingerE$(7Ivory epiphysis of the distal phalanx of the 4th fingerE$)7Pseudoepiphysis of the distal phalanx of the 4th fingerE$*7Small epiphysis of the distal phalanx of the 4th fingerP$+BStippling of the epiphysis of the distal phalanx of the 4th fingerJ$,Triangular epiphysis of the proximal phalanx of the 4th finger2$8$Aplasia/Hypoplasia of the 4th finger)$9Deviation of the 4th finger1$:#Joint contracture of the 4th fingerO$;AContracture of the distal interphalangeal joint of the 4th fingerQ$Contracture of the metacarpophalangeal joint of the 4th finger/$>!Ulnar deviation of the 4th finger0$?"Radial deviation of the 4th finger$@Short 4th finger'$AAplasia of the 4th fingerA$B3Abnormality of the distal phalanx of the 4th fingerA$C3Abnormality of the middle phalanx of the 4th fingerC$D5Abnormality of the proximal phalanx of the 4th finger0$E"Curved phalanges of the 4th finger5$F'Curved distal phalanx of the 4th finger5$G'Curved middle phalanx of the 4th finger7$H)Curved proximal phalanx of the 4th fingerH$I:Aplasia/Hypoplasia of the distal phalanx of the 4th finger4$J&Short distal phalanx of the 4th finger=$K/Aplasia of the distal phalanx of the 4th finger4$L&Broad distal phalanx of the 4th finger4$M&Broad middle phalanx of the 4th finger1$N#Absent middle phalanx of 4th finger4$O&Short middle phalanx of the 4th finger<$P.Bullet-shaped middle phalanx of the 4th fingerH$Q:Osteolytic defects of the middle phalanx of the 4th finger?$R1Aplasia of the proximal phalanx of the 4th fingerH$S:Aplasia/Hypoplasia of the middle phalanx of the 4th fingerJ$T$_0Bullet-shaped proximal phalanx of the 4th fingerJ$`Symphalangism affecting the proximal phalanx of the 4th fingerB$c4Triangular shaped proximal phalanx of the 4th finger4$d&Abnormal 3rd finger phalanx morphology)$eDeviation of the 3rd finger2$f$Aplasia/Hypoplasia of the 3rd finger1$g#Joint contracture of the 3rd finger<$h.Abnormality of the epiphyses of the 3rd fingerF$i8Absent epiphysis of the middle phalanx of the 3rd fingerG$j9Bracket epiphysis of the middle phalanx of the 3rd fingerK$k=Cone-shaped epiphysis of the middle phalanx of the 3rd fingerH$l:Enlarged epiphysis of the middle phalanx of the 3rd fingerT$mFFragmentation of the epiphysis of the middle phalanx of the 3rd fingerI$n;Irregular epiphysis of the middle phalanx of the 3rd fingerE$o7Ivory epiphysis of the middle phalanx of the 3rd fingerE$p7Pseudoepiphysis of the middle phalanx of the 3rd fingerE$q7Small epiphysis of the middle phalanx of the 3rd fingerP$rBStippling of the epiphysis of the middle phalanx of the 3rd fingerJ$sTriangular epiphysis of the proximal phalanx of the 3rd fingerA$3Abnormality of the distal phalanx of the 3rd fingerC$5Abnormality of the proximal phalanx of the 3rd finger"$Type A brachydactyly#$Type A1 brachydactyly#$Type A2 brachydactyly"$Type C brachydactyly/$!Broad phalanges of the 5th finger7$)Bullet-shaped phalanges of the 5th fingerC$5Aplasia/Hypoplasia of the phalanges of the 5th finger4$&Patchy sclerosis of 5th finger phalanx;$-Triangular shaped phalanges of the 5th fingerE$7Rhomboid or triangular shaped 5th finger distal phalanx$Finger aplasia$ Short finger0$"Absent epiphyses of the 5th finger1$#Bracket epiphyses of the 5th finger5$'Cone-shaped epiphyses of the 5th finger2$$Enlarged epiphyses of the 5th finger>$0Fragmentation of the epiphyses of the 5th finger3$%Irregular epiphyses of the 5th finger/$!Ivory epiphyses of the 5th finger/$!Pseudoepiphyses of the 5th finger/$!Small epiphyses of the 5th finger:$,Stippling of the epiphyses of the 5th finger4$&Triangular epiphyses of the 5th finger0$"Absent epiphyses of the 4th finger1$#Bracket epiphyses of the 4th finger5$'Cone-shaped epiphyses of the 4th finger2$$Enlarged epiphyses of the 4th finger>$0Fragmentation of the epiphyses of the 4th finger3$%Irregular epiphyses of the 4th finger/$!Ivory epiphyses of the 4th finger/$!Pseudoepiphyses of the 4th finger/$!Small epiphyses of the 4th finger:$,Stippling of the epiphyses of the 4th finger4$&Triangular epiphyses of the 4th finger/$!Broad phalanges of the 4th finger7$)Bullet-shaped phalanges of the 4th finger4$&Patchy sclerosis of 4th finger phalanx;$-Triangular shaped phalanges of the 4th fingerC$5Aplasia/Hypoplasia of the phalanges of the 4th finger0$"Absent epiphyses of the 3rd finger1$#Bracket epiphyses of the 3rd finger5$'Cone-shaped epiphyses of the 3rd finger2$$Enlarged epiphyses of the 3rd finger>$0Fragmentation of the epiphyses of the 3rd finger3$%Irregular epiphyses of the 3rd finger/$!Ivory epiphyses of the 3rd finger/$!Pseudoepiphyses of the 3rd finger/$!Small epiphyses of the 3rd finger:$,Stippling of the epiphyses of the 3rd finger4$&Triangular epiphyses of the 3rd fingerH$:Aplasia/Hypoplasia of the distal phalanx of the 3rd finger4$&Broad distal phalanx of the 3rd finger<$.Bullet-shaped distal phalanx of the 3rd fingerH$:Osteolytic defects of the distal phalanx of the 3rd fingerF$8Patchy sclerosis of the distal phalanx of the 3rd finger7$)Distal/middle symphalangism of 3rd finger@$2Triangular shaped distal phalanx of the 3rd finger5$'Curved distal phalanx of the 3rd finger=$/Aplasia of the distal phalanx of the 3rd finger4$&Broad middle phalanx of the 3rd finger<$.Bullet-shaped middle phalanx of the 3rd finger5$'Curved middle phalanx of the 3rd fingerH$:Osteolytic defects of the middle phalanx of the 3rd fingerF$8Patchy sclerosis of the middle phalanx of the 3rd finger;$-Symphalangism of middle phalanx of 3rd finger@$2Triangular shaped middle phalanx of the 3rd fingerH$:Aplasia/Hypoplasia of the middle phalanx of the 3rd finger1$#Absent middle phalanx of 3rd finger4$&Short middle phalanx of the 3rd finger/$!Broad phalanges of the 3rd finger7$)Bullet-shaped phalanges of the 3rd finger0$"Curved phalanges of the 3rd fingerC$5Osteolytic defects of the phalanges of the 3rd finger4$&Patchy sclerosis of 3rd finger phalanx-$Symphalangism of the 3rd finger;$-Triangular shaped phalanges of the 3rd fingerC$5Aplasia/Hypoplasia of the phalanges of the 3rd fingerA$3obsolete Aplasia of the phalanges of the 3rd fingerD$6obsolete Hypoplastic/small phalanges of the 3rd finger$6$(Broad proximal phalanx of the 3rd finger>$0Bullet-shaped proximal phalanx of the 3rd finger7$)Curved proximal phalanx of the 3rd fingerJ$Symphalangism affecting the proximal phalanx of the 3rd fingerB$4Triangular shaped proximal phalanx of the 3rd fingerJ$Contracture of the metacarpophalangeal joint of the 3rd fingerQ$CContracture of the proximal interphalangeal joint of the 3rd finger+%Joint contracture of the hand9%+Proximal/middle symphalangism of 4th finger]%OSymphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal9% +Proximal/middle symphalangism of 3rd finger]% OSymphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal=% /Deviation of the hand or of fingers of the handD% 6Radial deviation of the hand or of fingers of the hand*%Radial deviation of the hand)%Ulnar deviation of the hand0%"Absent epiphyses of the 2nd finger1%#Bracket epiphyses of the 2nd finger5%'Cone-shaped epiphyses of the 2nd finger2%$Enlarged epiphyses of the 2nd finger>%0Fragmentation of the epiphyses of the 2nd finger3%%Irregular epiphyses of the 2nd finger/%!Ivory epiphyses of the 2nd finger/%!Pseudoepiphysis of the 2nd finger/%!Small epiphyses of the 2nd finger:%,Stippling of the epiphyses of the 2nd finger4%&Triangular epiphyses of the 2nd fingerR%DAbnormality of the epiphysis of the distal phalanx of the 2nd fingerR%DAbnormality of the epiphysis of the middle phalanx of the 2nd fingerT%FAbnormality of the epiphysis of the proximal phalanx of the 2nd fingerF%8Absent epiphysis of the distal phalanx of the 2nd fingerG%9Bracket epiphysis of the distal phalanx of the 2nd fingerK% =Cone-shaped epiphysis of the distal phalanx of the 2nd fingerH%!:Enlarged epiphysis of the distal phalanx of the 2nd fingerT%"FFragmentation of the epiphysis of the distal phalanx of the 2nd fingerI%#;Irregular epiphysis of the distal phalanx of the 2nd fingerE%$7Ivory epiphysis of the distal phalanx of the 2nd fingerE%%7Pseudoepiphysis of the distal phalanx of the 2nd fingerE%&7Small epiphysis of the distal phalanx of the 2nd fingerP%'BStippling of the epiphysis of the distal phalanx of the 2nd fingerJ%(>Triangular epiphysis of the proximal phalanx of the 2nd finger'%?Aplasia of the 2nd finger%@Short 2nd finger3%A%Flexion contracture of the 2nd fingerO%BAContracture of the distal interphalangeal joint of the 2nd fingerL%C>Contracture of the metacarpophalangeal joint of the 2nd fingerQ%DCContracture of the proximal interphalangeal joint of the 2nd finger<%E.Abnormality of the phalanges of the 2nd fingerA%F3Abnormality of the distal phalanx of the 2nd fingerA%G3Abnormality of the middle phalanx of the 2nd fingerC%H5Abnormality of the proximal phalanx of the 2nd finger-%ISymphalangism of the 2nd finger;%J-Triangular shaped phalanges of the 2nd finger/%K!Broad phalanges of the 2nd finger7%L)Bullet-shaped phalanges of the 2nd finger0%M"Curved phalanges of the 2nd fingerC%N5Osteolytic defects of the phalanges of the 2nd finger4%O&Patchy sclerosis of 2nd finger phalanxC%P5Aplasia/Hypoplasia of the phalanges of the 2nd finger)%QAbnormality of the hairline,%RPreauricular hair displacement'%SHypoplasia of the pharynx%T Absent tibiaH%U:Aplasia/Hypoplasia of the distal phalanx of the 2nd finger4%V&Broad distal phalanx of the 2nd finger<%W.Bullet-shaped distal phalanx of the 2nd finger5%X'Curved distal phalanx of the 2nd fingerH%Y:Osteolytic defects of the distal phalanx of the 2nd fingerF%Z8Patchy sclerosis of the distal phalanx of the 2nd finger7%[)Distal/middle symphalangism of 2nd finger@%\2Triangular shaped distal phalanx of the 2nd finger=%]/Aplasia of the distal phalanx of the 2nd finger4%^&Short distal phalanx of the 2nd fingerH%`:Aplasia/Hypoplasia of the middle phalanx of the 2nd finger4%a&Broad middle phalanx of the 2nd finger<%b.Bullet-shaped middle phalanx of the 2nd finger5%c'Curved middle phalanx of the 2nd fingerH%d:Osteolytic defects of the middle phalanx of the 2nd fingerF%e8Patchy sclerosis of the middle phalanx of the 2nd finger;%f-Symphalangism of middle phalanx of 2nd finger@%g2Triangular shaped middle phalanx of the 2nd finger1%h#Absent middle phalanx of 2nd finger4%i&Short middle phalanx of the 2nd finger=%k/Proximal/middle symphalangism of the 2nd fingerJ%l%n0Bullet-shaped proximal phalanx of the 2nd finger7%o)Curved proximal phalanx of the 2nd fingerJ%pSymphalangism affecting the proximal phalanx of the 2nd fingerB%s4Triangular shaped proximal phalanx of the 2nd finger#%tVestibular schwannoma-%uBilateral vestibular schwannoma.%v Unilateral vestibular schwannoma8%w*Abnorma vestibulocochlear nerve morphology%x Astrocytoma#%yPeripheral schwannoma%zRetinal hamartoma/%{!obsolete Occasional neurofibromas+?%|1Aplasia of the proximal phalanx of the 2nd finger6%}(Short proximal phalanx of the 2nd finger]%~OSymphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal,%Abnormality of thumb epiphysis%Thumb contracture-%Aplasia/Hypoplasia of the thumb*%Abnormality of thumb phalanx$%Deviation of the thumbA%3Complete duplication of distal phalanx of the thumbC%5Complete duplication of proximal phalanx of the thumb/%!Duplication of the 1st metacarpal/%!Bifid distal phalanx of the thumb<%.Duplication of the distal phalanx of the thumb>%0Duplication of the proximal phalanx of the thumb1%#Bifid proximal phalanx of the thumb:%,Complete duplication of the first metacarpal$%Bifid first metacarpal<%.Abnormality of the distal phalanx of the thumb>%0Abnormality of the proximal phalanx of the thumb4%&obsolete Radial deviation of the thumb3%%obsolete Ulnar deviation of the thumb#%Distally placed thumb)%Proximal placement of thumb5%'Carpometacarpal thumb joint contracture9%+Metacarpophalangeal thumb joint contracture5%'Interphalangeal thumb joint contractureE%7Aplasia/Hypoplasia of the proximal phalanx of the thumb1%#Broad proximal phalanx of the thumb9%+Bullet-shaped proximal phalanx of the thumb2%$Curved proximal phalanx of the thumbD%6Osteolytic defect of the proximal phalanx of the thumbC%5Patchy sclerosis of the proximal phalanx of the thumb)%Synostosis of thumb phalanx=%/Triangular shaped proximal phalanx of the thumb.% Absent proximal phalanx of thumb-%Short proximal phalanx of thumbU%GSynostosis of the proximal phalanx of the thumb with the 1st metacarpalC%5Aplasia/Hypoplasia of the distal phalanx of the thumb/%!Broad distal phalanx of the thumb7%)Bullet-shaped distal phalanx of the thumb0%"Curved distal phalanx of the thumbB%4Osteolytic defect of the distal phalanx of the thumbA%3Patchy sclerosis of the distal phalanx of the thumb;%-Triangular shaped distal phalanx of the thumb8%*Aplasia of the distal phalanx of the thumb/%!Short distal phalanx of the thumb)%Bullet-shaped thumb phalanx"%Curved thumb phalanx0%"Osteolytic defect of thumb phalanx/%!Patchy sclerosis of thumb phalanx(%Symphalangism of the thumb-%Triangular shaped thumb phalanx>%0Aplasia/Hypoplasia of the phalanges of the thumb&%Partial absence of thumb(%Short phalanx of the thumbM%?Abnormality of the epiphysis of the distal phalanx of the thumbO%AAbnormality of the epiphysis of the proximal phalanx of the thumbC%5Absent epiphysis of the proximal phalanx of the thumbD%6Bracket epiphysis of the proximal phalanx of the thumbH%:Cone-shaped epiphysis of the proximal phalanx of the thumbE%7Enlarged epiphysis of the proximal phalanx of the thumbQ%CFragmentation of the epiphysis of the proximal phalanx of the thumbF%8Irregular epiphysis of the proximal phalanx of the thumbB%4Ivory epiphysis of the proximal phalanx of the thumbB%4Pseudoepiphysis of the proximal phalanx of the thumbB%4Small epiphysis of the proximal phalanx of the thumbM%?Stippling of the epiphysis of the proximal phalanx of the thumbG%9Triangular epiphysis of the proximal phalanx of the thumbA%3Absent epiphysis of the distal phalanx of the thumbB%4Bracket epiphysis of the distal phalanx of the thumbF%8Cone-shaped epiphysis of the distal phalanx of the thumbC%5Enlarged epiphysis of the distal phalanx of the thumbO%AFragmentation of the epiphysis of the distal phalanx of the thumbD%6Irregular epiphysis of the distal phalanx of the thumb@%2Ivory epiphysis of the distal phalanx of the thumb@%2Pseudoepiphysis of the distal phalanx of the thumb@%2Small epiphysis of the distal phalanx of the thumbK%=Stippling of the epiphysis of the distal phalanx of the thumbE%7Triangular epiphysis of the distal phalanx of the thumb+%Absent epiphyses of the thumb,%Bracket epiphyses of the thumb0%"Cone-shaped epiphysis of the thumb&%Enlarged thumb epiphysis.% Fragmentation of thumb epiphysis'%Irregular thumb epiphysis*%Ivory epiphysis of the thumb*%Pseudoepiphysis of the thumb#%Small thumb epiphysis*%Stippling of thumb epiphysis/%!Triangular epiphyses of the thumbL%>Contracture of the distal interphalangeal joint of the fingers2%$Osteolytic defects of the hand bones"%Finger symphalangism#%Metacarpal synostosis%Carpal synostosis5%'Synostosis involving the 1st metacarpal'%Chronic CSF lymphocytosis5%'Synostosis involving the 2nd metacarpal5%'Synostosis involving the 3rd metacarpal5%'Synostosis involving the 4th metacarpal5%'Synostosis involving the 5th metacarpal,%Increased CSF interferon alpha% Chilblains*%Retinal capillary hemangioma%%Spinal hemangioblastoma,%Abnormal epididymis morphology5%'Papillary cystadenoma of the epididymis"%Subependymal nodules%Cortical tubers1%#Subependymal giant-cell astrocytoma"%Hypomelanotic macule%Adenoma sebaceum%Shagreen patch %Dental enamel pits1%#Abnormality of the subungual region %Subungual fibromas%Bladder neoplasm%Renal neoplasm(%Achromatic retinal patches)&Neoplasm of striated muscle!&Cardiac rhabdomyoma& Rhabdomyoma &Cerebral hamartoma$&Plexiform neurofibroma&Glioma &Optic nerve glioma!&Spinal neurofibroma#&Tibial pseudarthrosis& Lisch nodules+& Abnormal antihelix morphology)& Hypoplasia of the antihelix*& Aplasia of the parotid gland& Nephrosclerosis&Stiff shoulders& Distichiasis3&%Abnormal spinal dura mater morphology#&Spinal arachnoid cyst &Thick nasal septum#&Lumbosacral hirsutism& Large earlobe4&&Aplasia of the pectoralis major muscle!&Cleft in skull base &Fibrous syngnathia&Ankyloblepharon!&Popliteal pterygium#&Intercrural pterygiumP&BPyramidal skinfold extending from the base to the top of the nails& Neck pterygia#& Antecubital pterygium3&!%Anterior clefting of vertebral bodies&"Facial wrinkling&# Limb pain#&%Low hanging columella=&'/Aplasia/Hypoplasia of the phalanges of the hand)&(Broad phalanges of the hand1&)#Bullet-shaped phalanges of the hand*&*Curved phalanges of the hand=&+/Osteolytic defects of the phalanges of the hand0&,"Patchy sclerosis of finger phalanx?&-1Symphalangism affecting the phalanges of the hand5&.'Triangular shaped phalanges of the hand(&/Amniotic constriction ring&0Adactyly&1 Absent thumb&2 Short thumb &33-4 toe syndactyly&4 Iliac horns&5 Lester's sign.&6 Aplasia/Hypoplasia of the biceps&7Biceps aplasia/&8!Aplasia/Hypoplasia of the triceps&9Triceps aplasia@&:2Aplasia/Hypoplasia of the musculature of the thigh2&;$Aplasia/Hypoplasia of the quadriceps &<Quadriceps aplasia&=Perianal abscess&> Hemisacrum&? Bifid sacrum&@Teratoma &APresacral teratoma&BBranchial anomaly&CBranchial fistula&DBranchial cyst&E Cholesteatoma&FEuthyroid goiter#&GSupernumerary spleens&HMaternal diabetes2&J$Aplasia of the phalanges of the hand%&KShort phalanx of finger&LTooth agenesis1&M#Low-output congestive heart failure,&NNephrogenic diabetes insipidus1&P#Anomaly of the upper limb diaphyses7&Q)Abnormal upper limb metaphysis morphology-&RAbnormality of upper limb joint&&SAbnormality of the elbow.&T Amelia involving the upper limbs#&UUpper limb phocomelia"&VUpper limb peromelia3&W%Aplasia/hypoplasia of the extremities$&XLower limb undergrowth8&Y*Aplasia involving bones of the lower limbs.&Z Amelia involving the lower limbs#&[Lower limb phocomelia"&\Lower limb peromelia!&]Forearm undergrowth-&^Aplasia involving forearm bones8&_*Aplasia involving bones of the upper limbs$&`Upper limb undergrowth8&a*Aplasia involving bones of the extremities&bLimb undergrowth&cAmelia&d Peromelia&e Phocomelia#&fPeripheral neuropathy&gMononeuropathy:&h,Abnormal distal phalanx morphology of finger<&i.Abnormal middle phalanx morphology of the hand>&j0Abnormal proximal phalanx morphology of the handD&k6Aplasia/Hypoplasia of the distal phalanges of the hand,&lBroad distal phalanx of finger8&m*Bullet-shaped distal phalanges of the hand1&n#Curved distal phalanges of the handD&o6Osteolytic defects of the distal phalanges of the hand:&p,Patchy sclerosis of distal phalanx of fingerD&s6Aplasia/Hypoplasia of the middle phalanges of the hand,&tBroad middle phalanx of finger8&u*Bullet-shaped middle phalanges of the hand1&v#Curved middle phalanges of the handD&w6Osteolytic defects of the middle phalanges of the hand:&x,Patchy sclerosis of middle phalanx of finger7&y)Symphalangism of middle phalanx of finger<&z.Triangular shaped middle phalanges of the handF&{8Aplasia/Hypoplasia of the proximal phalanges of the hand2&|$Broad proximal phalanges of the hand:&},Bullet-shaped proximal phalanges of the hand3&~%Curved proximal phalanges of the handF&8Osteolytic defects of the proximal phalanges of the hand<&.Patchy sclerosis of proximal phalanx of fingerH&:Symphalangism affecting the proximal phalanges of the hand>&0Triangular shaped proximal phalanges of the hand<&.Triangular shaped distal phalanges of the hand@&2Cerebellar ataxia associated with quadrupedal gait&&Simplified gyral pattern3&%Broad distal phalanges of all fingers9&+Aplasia of the distal phalanges of the hand,&Short distal phalanx of finger7&)Duplication of the distal phalanx of hand0&"Tapered distal phalanges of finger-&obsolete Prenatal short stature"&Trichorrhexis nodosa.& Abnormality of hair pigmentation2&$Abnormality of secondary sexual hair!&Localized hirsutism$&High anterior hairline0&"Underdeveloped supraorbital ridges&Anotia'&Telangiectasia of the ear&Thickened ears2&$Abnormality of the crus of the helix,&Abnormal antitragus morphology&&Horizontal crus of helix.& Underdeveloped crus of the helix%&Prominent crus of helix!&Unilateral deafness& Crumpled ear& Cleft helix!&Conjunctival nodule!&Prominent ear helix&Thin ear helix0&"Aplasia/Hypoplasia of the earlobes&Attached earlobe)&Anterior creases of earlobe&Uplifted earlobe0&"Aplasia of the middle ear ossicles/&!Abnormal temporal bone morphology(&Abnormal tragus morphology.& Aplasia/Hypoplasia of the tragus&Cyclopia&Corneal asymmetry& Anisocoria+&Persistent pupillary membrane&Ectopia pupillae&Retinoblastoma& Nevus of Ota& Duane anomaly4&&Vascular remnant arising from the disk3&%Aplasia/Hypoplasia involving the nose&Epiphora!&Aplasia of the nose&Thick nasal alae+&Abnormal columella morphology$&Asymmetry of the nares&Enlarged naris& Single naris& Narrow naris!&Supernumerary naris4&&Aplasia/Hypoplasia of the nasal septum!&Narrow nasal septum&Facial hirsutism& Sunken cheeks &Mandibular aplasia'&Asymmetry of the mandible$&Asymmetry of the mouth*&Duplication of thumb phalanx3&%Complete duplication of thumb phalanx2&$Partial duplication of thumb phalanx2&$Duplication of phalanx of 2nd finger2&$Polydactyly affecting the 2nd fingerC&5Duplication of the proximal phalanx of the 2nd fingerA&3Duplication of the distal phalanx of the 2nd fingerA&3Duplication of the middle phalanx of the 2nd fingerJ&Complete duplication of the proximal phalanx of the 2nd fingerK&=Partial duplication of the proximal phalanx of the 2nd fingerD&6Partial duplication of the phalanges of the 2nd fingerE&7Complete duplication of the phalanges of the 2nd finger2&$Polydactyly affecting the 3rd finger2&$Duplication of phalanx of 3rd fingerE&7Complete duplication of the phalanges of the 3rd fingerD&6Partial duplication of the phalanges of the 3rd fingerA&3Duplication of the distal phalanx of the 3rd fingerA&3Duplication of the middle phalanx of the 3rd fingerC&5Duplication of the proximal phalanx of the 3rd fingerJ&Complete duplication of the proximal phalanx of the 3rd fingerI&;Partial duplication of the distal phalanx of the 3rd fingerI&;Partial duplication of the middle phalanx of the 3rd fingerK&=Partial duplication of the proximal phalanx of the 3rd finger2&$Polydactyly affecting the 4th finger2&$Duplication of phalanx of 4th fingerE&7Complete duplication of the phalanges of the 4th fingerD&6Partial duplication of the phalanges of the 4th fingerA&3Duplication of the distal phalanx of the 4th fingerA&3Duplication of the middle phalanx of the 4th fingerC&5Duplication of the proximal phalanx of the 4th fingerJ&Complete duplication of the proximal phalanx of the 4th fingerI&;Partial duplication of the distal phalanx of the 4th fingerI&;Partial duplication of the middle phalanx of the 4th fingerK&=Partial duplication of the proximal phalanx of the 4th finger2'$Duplication of phalanx of 5th fingerE'7Complete duplication of the phalanges of the 5th fingerD'6Partial duplication of the phalanges of the 5th fingerA'3Duplication of the distal phalanx of the 5th fingerA'3Duplication of the middle phalanx of the 5th fingerC'5Duplication of the proximal phalanx of the 5th fingerJ'Complete duplication of the proximal phalanx of the 5th fingerI' ;Partial duplication of the distal phalanx of the 5th fingerI' ;Partial duplication of the middle phalanx of the 5th fingerK' =Partial duplication of the proximal phalanx of the 5th finger,' Duplication of phalanx of hand5''Complete duplication of phalanx of hand8'*Partial duplication of the phalanx of handH':Complete duplication of the proximal phalanges of the handF'8Complete duplication of the distal phalanges of the handF'8Complete duplication of the middle phalanges of the handG'9Partial duplication of the proximal phalanges of the handE'7Partial duplication of the distal phalanges of the handE'7Partial duplication of the middle phalanges of the hand9'+Duplication of the proximal phalanx of hand7')Duplication of the middle phalanx of hand0'"Abnormal 1st metacarpal morphology0'"Abnormal 2nd metacarpal morphology0'"Abnormal 3rd metacarpal morphology0'"Abnormal 4th metacarpal morphology0'"Abnormal 5th metacarpal morphology@'2Abnormality of the epiphysis of the 1st metacarpal4'&Absent epiphysis of the 1st metacarpal5' 'Bracket epiphysis of the 1st metacarpal9'!+Cone-shaped epiphysis of the 1st metacarpal6'"(Enlarged epiphysis of the 1st metacarpalB'#4Fragmentation of the epiphysis of the 1st metacarpal7'$)Irregular epiphysis of the 1st metacarpal3'%%Ivory epiphysis of the 1st metacarpal3'&%Pseudoepiphysis of the 1st metacarpal3''%Small epiphysis of the 1st metacarpal:'(,Epiphyseal stippling of the first metacarpal8')*Triangular epiphysis of the 1st metacarpal6'*(Aplasia/Hypoplasia of the 1st metacarpal"'+Broad 1st metacarpal*',Bullet-shaped 1st metacarpal#'-Curved 1st metacarpal6'.(Osteolytic defects of the 1st metacarpal4'/&Patchy sclerosis of the 1st metacarpal.'1 Triangular shaped 1st metacarpal"'2Short 1st metacarpal+'3Aplasia of the 1st metacarpal6'4(Aplasia/Hypoplasia of the 2nd metacarpal+'5Aplasia of the 2nd metacarpal"'6Short 2nd metacarpal6'7(Aplasia/Hypoplasia of the 3rd metacarpal+'8Aplasia of the 3rd metacarpal"'9Short 3rd metacarpal6':(Aplasia/Hypoplasia of the 4th metacarpal+';Aplasia of the 4th metacarpal"'<Short 4th metacarpal6'=(Aplasia/Hypoplasia of the 5th metacarpal+'>Aplasia of the 5th metacarpal"'?Short 5th metacarpal)'@Aplasia of metacarpal bones'AShort metacarpal%'CDeviation of the halluxG'D9Abnormal morphology of the proximal phalanx of the hallux='E/Abnormality of the distal phalanx of the hallux6'F(Abnormality of the first metatarsal bone'G Broad hallux8'H*Abnormality of the epiphyses of the hallux0'I"Abnormal hallux phalanx morphology?'J1Aplasia/Hypoplasia of the phalanges of the hallux"'KBroad hallux phalanx*'LBullet-shaped hallux phalanx#'MCurved hallux phalanx?'N1Osteolytic defects of the phalanges of the hallux0'O"Patchy sclerosis of hallux phalanxA'P3Symphalangism affecting the phalanges of the hallux7'Q)Triangular shaped phalanges of the hallux.'R Duplication of phalanx of hallux6'S(Aplasia/hypoplasia of the 1st metatarsal$'TBroad first metatarsal*'UBullet-shaped 1st metatarsal#'VCurved 1st metatarsal6'W(Osteolytic defects of the 1st metatarsal4'X&Patchy sclerosis of the 1st metatarsal5'Y'Synostosis involving the 1st metatarsal.'Z Triangular shaped 1st metatarsal/'[!Duplication of the 1st metatarsalD'\6Aplasia/Hypoplasia of the distal phalanx of the hallux0']"Broad distal phalanx of the hallux8'^*Bullet-shaped distal phalanx of the hallux1'_#Curved distal phalanx of the halluxD'`6Osteolytic defects of the distal phalanx of the halluxB'a4Patchy sclerosis of the distal phalanx of the halluxF'b8Symphalangism affecting the distal phalanx of the hallux<'c.Triangular shaped distal phalanx of the hallux='d/Duplication of the distal phalanx of the halluxF'e8Aplasia/Hypoplasia of the proximal phalanx of the hallux2'f$Broad proximal phalanx of the hallux:'g,Bullet-shaped proximal phalanx of the hallux3'h%Curved proximal phalanx of the halluxF'i8Osteolytic defects of the proximal phalanx of the halluxD'j6Patchy sclerosis of the proximal phalanx of the halluxH'k:Symphalangism affecting the proximal phalanx of the hallux>'l0Triangular shaped proximal phalanx of the hallux?'m1Duplication of the proximal phalanx of the halluxH'n:Complete duplication of the proximal phalanx of the halluxG'o9Partial duplication of the proximal phalanx of the halluxF'p8Complete duplication of the distal phalanx of the halluxE'q7Partial duplication of the distal phalanx of the hallux8'r*Complete duplication of the 1st metatarsal7's)Partial duplication of the 1st metatarsal4't&Complete duplication of hallux phalanx@'u2Partial duplication of the phalanges of the hallux9'v+Aplasia of the distal phalanx of the hallux,'wShort distal phalanx of hallux%'xAbsent first metatarsal$'yShort first metatarsal;'z-Aplasia of the proximal phalanx of the hallux.'{ Short proximal phalanx of hallux'} Short hallux4'~&Aplasia of the phalanges of the hallux%'Short phalanx of hallux('Mesoaxial foot polydactyly%'Absent hallux epiphysis-'Bracket epiphyses of the hallux1'#Cone-shaped epiphyses of the hallux.' Enlarged epiphyses of the hallux:',Fragmentation of the epiphyses of the hallux/'!Irregular epiphyses of the hallux+'Ivory epiphyses of the hallux+'Pseudoepiphyses of the hallux+'Small epiphyses of the hallux6'(Stippling of the epiphyses of the hallux0'"Triangular epiphyses of the halluxN'@Abnormality of the epiphysis of the distal phalanx of the hallux@'2Abnormality of the epiphysis of the 1st metatarsalP'BAbnormality of the epiphysis of the proximal phalanx of the halluxD'6Absent epiphysis of the proximal phalanx of the halluxE'7Bracket epiphysis of the proximal phalanx of the halluxI';Cone-shaped epiphysis of the proximal phalanx of the halluxF'8Enlarged epiphysis of the proximal phalanx of the halluxR'DFragmentation of the epiphysis of the proximal phalanx of the halluxG'9Irregular epiphysis of the proximal phalanx of the halluxC'5Ivory epiphysis of the proximal phalanx of the halluxC'5Pseudoepiphysis of the proximal phalanx of the halluxC'5Small epiphysis of the proximal phalanx of the halluxN'@Stippling of the epiphysis of the proximal phalanx of the halluxH':Triangular epiphysis of the proximal phalanx of the halluxB'4Absent epiphysis of the distal phalanx of the halluxC'5Bracket epiphysis of the distal phalanx of the halluxG'9Cone-shaped epiphysis of the distal phalanx of the halluxD'6Enlarged epiphysis of the distal phalanx of the halluxP'BFragmentation of the epiphysis of the distal phalanx of the halluxE'7Irregular epiphysis of the distal phalanx of the halluxA'3Ivory epiphysis of the distal phalanx of the halluxA'3Pseudoepiphysis of the distal phalanx of the halluxA'3Small epiphysis of the distal phalanx of the halluxL'>Stippling of the epiphysis of the distal phalanx of the halluxF'8Triangular epiphysis of the distal phalanx of the hallux4'&Absent epiphysis of the 1st metatarsal5''Bracket epiphysis of the 1st metatarsal9'+Cone-shaped epiphysis of the 1st metatarsal6'(Enlarged epiphysis of the 1st metatarsalB'4Fragmentation of the epiphysis of the 1st metatarsal7')Irregular epiphysis of the 1st metatarsal3'%Ivory epiphysis of the 1st metatarsal3'%Pseudoepiphysis of the 1st metatarsal3'%Small epiphysis of the 1st metatarsal>'0Stippling of the epiphysis of the 1st metatarsal8'*Triangular epiphysis of the 1st metatarsal/'!Abnormal toe epiphysis morphology-'Abnormal toe phalanx morphology*'Absent epiphyses of the toes+'Bracket epiphyses of the toes/'!Cone-shaped epiphyses of the toes,'Enlarged epiphyses of the toes8'*Fragmentation of the epiphyses of the toes-'Irregular epiphyses of the toes)'Ivory epiphyses of the toes)'Pseudoepiphyses of the toes)'Small epiphyses of the toes3'%Epiphyseal stippling of toe phalanges.' Triangular epiphyses of the toes='/Aplasia/Hypoplasia of the phalanges of the toes''Broad phalanx of the toes''Bullet-shaped toe phalanx 'Curved toe phalanx='/Osteolytic defects of the phalanges of the toes-'Patchy sclerosis of toe phalanx?'1Symphalangism affecting the phalanges of the toes5''Triangular shaped phalanges of the toes+'Duplication of phalanx of toe='/Abnormality of the distal phalanges of the toes='/Abnormality of the middle phalanges of the toes1'#Abnormality of toe proximal phalanxD'6Aplasia/Hypoplasia of the distal phalanges of the toes.' Broad distal phalanx of the toes.' Bullet-shaped distal toe phalanx''Curved distal toe phalanxD'6Osteolytic defects of the distal phalanges of the toes4'&Patchy sclerosis of distal toe phalanxF'8Symphalangism affecting the distal phalanges of the toes<'.Triangular shaped distal phalanges of the toes2'$Duplication of distal phalanx of toeD'6Aplasia/Hypoplasia of the middle phalanges of the toes0'"Broad middle phalanges of the toes.' Bullet-shaped middle toe phalanx''Curved middle toe phalanxD'6Osteolytic defects of the middle phalanges of the toes4'&Patchy sclerosis of middle toe phalanxF'8Symphalangism affecting the middle phalanges of the toes<'.Triangular shaped middle phalanges of the toes2'$Duplication of middle phalanx of toe8'*Aplasia/hypoplasia of proximal toe phalanx+'Broad proximal phalanx of toe0'"Bullet-shaped proximal toe phalanx)'Curved proximal toe phalanx;'-Osteolytic defect of the proximal toe phalanx6'(Patchy sclerosis of proximal toe phalanxH':Symphalangism affecting the proximal phalanges of the toes>'0Triangular shaped proximal phalanges of the toes4'&Duplication of proximal phalanx of toe/'!Flexion contracture of the halluxD'6Contracture of the tarsometatarsal joint of the halluxD'6Contracture of the interphalangeal joint of the halluxI';Contractures of the metatarsophalangeal joint of the hallux''Structural foot deformity@'2Abnormality of the epiphysis of the 2nd metacarpal<'.obsolete Pseudoepiphysis of the 2nd metacarpal#:',Abnormal 3rd metacarpal epiphysis morphology3'%Pseudoepiphysis of the 3rd metacarpal:',Abnormal 4th metacarpal epiphysis morphology3'%Pseudoepiphysis of the 4th metacarpal:',Abnormal 5th metacarpal epiphysis morphology3'%Pseudoepiphysis of the 5th metacarpal;'-Absent epiphyses of the phalanges of the hand<'.Bracket epiphyses of the phalanges of the hand@'2Cone-shaped epiphyses of the phalanges of the hand='/Enlarged epiphyses of the phalanges of the handI';Fragmentation of the epiphyses of the phalanges of the hand>'0Irregular epiphyses of the phalanges of the hand:',Ivory epiphyses of the phalanges of the hand:',Pseudoepiphyses of the phalanges of the hand:',Small epiphyses of the phalanges of the hand6'(Epiphyseal stippling of finger phalanges?'1Triangular epiphyses of the phalanges of the hand7')Aplasia of the middle phalanx of the hand.( Short proximal phalanx of finger;(-Aplasia of the proximal phalanges of the handJ(Stippling of the epiphyses of the distal phalanges of the handF(8Triangular epiphyses of the distal phalanges of the handB(4Absent epiphyses of the middle phalanges of the handC(5Bracket epiphyses of the middle phalanges of the handG(9Cone-shaped epiphyses of the middle phalanges of the handD(6Enlarged epiphyses of the middle phalanges of the handP(BFragmentation of the epiphyses of the middle phalanges of the handE(7Irregular epiphyses of the middle phalanges of the handA(3Ivory epiphyses of the middle phalanges of the handA(3Pseudoepiphyses of the middle phalanges of the handA(3Small epiphyses of the middle phalanges of the handL(>Stippling of the epiphyses of the middle phalanges of the handF(8Triangular epiphyses of the middle phalanges of the handD(6Absent epiphyses of the proximal phalanges of the handE(7Bracket epiphyses of the proximal phalanges of the handI(;Cone-shaped epiphyses of the proximal phalanges of the handF(8Enlarged epiphyses of the proximal phalanges of the handR( DFragmentation of the epiphyses of the proximal phalanges of the handG(!9Irregular epiphyses of the proximal phalanges of the handC("5Ivory epiphyses of the proximal phalanges of the handC(#5Pseudoepiphyses of the proximal phalanges of the handC($5Small epiphyses of the proximal phalanges of the handN(%@Stippling of the epiphyses of the proximal phalanges of the handH(&:Triangular epiphyses of the proximal phalanges of the hand(( Stomatitis()Cleft lower lip&(*Thin lower lip vermilion*(,Intra-oral hyperpigmentation(- Oral synechia0(."Abnormal salivary gland morphology5(/'Abnormality of the submandibular glands2(0$Abnormality of the sublingual glands,(1Cleft maxillary alveolar ridge(2Short hard palate'(3Prominent palatine ridges(4 Absent uvula-(5Aplasia/Hypoplasia of the uvula(6Palate fistula.(7 Aplasia/Hypoplasia of the tongue(8 Ankyloglossia(9 Bifid tongue(: Smooth tongue((;Abnormal dentin morphology*(<Abnormally low-pitched voice(=Spinal dysraphism(>Spinal cord tumor2(?$Abnormal spinal meningeal morphology+(@Spinal meningeal diverticulum#(AAbsence of the sacrum(B Short thorax(CStridor(DAsternia(E Bifid sternum(F Chylothorax/(G!Aplasia/Hypoplasia of the breasts&(HAsymmetry of the breasts (IBreast hypertrophy!(JPremature thelarche1(K#Aplasia/Hypoplasia of the diaphragm4(L&Ebstein anomaly of the tricuspid valve(MScapular aplasiaB(N4Aplasia/Hypoplasia of the abdominal wall musculature,(OAbnormal second toe morphology+(PAbnormal third toe morphology,(QAbnormal fourth toe morphology+(RAbnormal fifth toe morphology9(S+Abnormality of the epiphyses of the 2nd toe;(T-Abnormal morphology of phalanx of the 2nd toe/(U!Aplasia/Hypoplasia of the 2nd toe&(VDeviation of the 2nd toe0(W"Flexion contracture of the 2nd toe/(X!Polydactyly affecting the 2nd toe9(Y+Abnormality of the epiphyses of the 3rd toe9(Z+Abnormality of the phalanges of the 3rd toe/([!Aplasia/Hypoplasia of the 3rd toe&(\Deviation of the 3rd toe,(]Flexion contracture of 3rd toe/(^!Polydactyly affecting the 3rd toe9(_+Abnormality of the epiphyses of the 4th toe9(`+Abnormality of the phalanges of the 4th toe/(a!Aplasia/Hypoplasia of the 4th toe&(bDeviation of the 4th toe0(c"Flexion contracture of the 4th toe/(d!Polydactyly affecting the 4th toe9(e+Abnormality of the epiphyses of the 5th toe9(f+Abnormality of the phalanges of the 5th toe/(g!Aplasia/Hypoplasia of the 5th toe&(hDeviation of the 5th toe0(i"Flexion contracture of the 5th toe@(k2Aplasia/Hypoplasia of the phalanges of the 2nd toe,(lBroad phalanges of the 2nd toe+(mBullet-shaped 2nd toe phalanx$(nCurved 2nd toe phalanx@(o2Osteolytic defects of the phalanges of the 2nd toe1(p#Patchy sclerosis of 2nd toe phalanx&(qSecond toe symphalangism8(r*Triangular shaped phalanges of the 2nd toe9(s+Duplication of the phalanges of the 2nd toe>(t0Abnormality of the distal phalanx of the 2nd toe>(u0Abnormality of the middle phalanx of the 2nd toeH(v:Abnormal morphology of the proximal phalanx of the 2nd toe@(w2Aplasia/Hypoplasia of the phalanges of the 3rd toe,(xBroad phalanges of the 3rd toe+(yBullet-shaped 3rd toe phalanx$(zCurved 3rd toe phalanx@({2Osteolytic defects of the phalanges of the 3rd toe1(|#Patchy sclerosis of 3rd toe phalanxB(}4Symphalangism affecting the phalanges of the 3rd toe8(~*Triangular shaped phalanges of the 3rd toe3(%Duplication of phalanx of the 3rd toe>(0Abnormality of the distal phalanx of the 3rd toe>(0Abnormality of the middle phalanx of the 3rd toeH(:Abnormal morphology of the proximal phalanx of the 3rd toe@(2Aplasia/Hypoplasia of the phalanges of the 4th toe,(Broad phalanges of the 4th toe+(Bullet-shaped 4th toe phalanx$(Curved 4th toe phalanx@(2Osteolytic defects of the phalanges of the 4th toe1(#Patchy sclerosis of 4th toe phalanxB(4Symphalangism affecting the phalanges of the 4th toe8(*Triangular shaped phalanges of the 4th toe3(%Duplication of phalanx of the 4th toe>(0Abnormality of the distal phalanx of the 4th toe>(0Abnormality of the middle phalanx of the 4th toeH(:Abnormal morphology of the proximal phalanx of the 4th toe@(2Aplasia/Hypoplasia of the phalanges of the 5th toe,(Broad phalanges of the 5th toe+(Bullet-shaped 5th toe phalanx$(Curved 5th toe phalanx@(2Osteolytic defects of the phalanges of the 5th toe1(#Patchy sclerosis of 5th toe phalanxB(4Symphalangism affecting the phalanges of the 5th toe8(*Triangular shaped phalanges of the 5th toe9(+Duplication of the phalanges of the 5th toe>(0Abnormality of the distal phalanx of the 5th toe>(0Abnormality of the middle phalanx of the 5th toeH(:Abnormal morphology of the proximal phalanx of the 5th toeG(9Aplasia/hypoplasia of the proximal phalanx of the 2nd toe3(%Broad proximal phalanx of the 2nd toe;(-Bullet-shaped proximal phalanx of the 2nd toe4(&Curved proximal phalanx of the 2nd toeG(9Osteolytic defects of the proximal phalanx of the 2nd toeE(7Patchy sclerosis of the proximal phalanx of the 2nd toeI(;Symphalangism affecting the proximal phalanx of the 2nd toe?(1Triangular shaped proximal phalanx of the 2nd toe@(2Duplication of the proximal phalanx of the 2nd toeE(7Aplasia/Hypoplasia of the middle phalanx of the 2nd toe1(#Broad middle phalanx of the 2nd toe9(+Bullet-shaped middle phalanx of the 2nd toe2($Curved middle phalanx of the 2nd toeE(7Osteolytic defects of the middle phalanx of the 2nd toeC(5Patchy sclerosis of the middle phalanx of the 2nd toeG(9Symphalangism affecting the middle phalanx of the 2nd toe=(/Triangular shaped middle phalanx of the 2nd toe>(0Duplication of the middle phalanx of the 2nd toeE(7Aplasia/Hypoplasia of the distal phalanx of the 2nd toe1(#Broad distal phalanx of the 2nd toe9(+Bullet-shaped distal phalanx of the 2nd toe2($Curved distal phalanx of the 2nd toeE(7Osteolytic defects of the distal phalanx of the 2nd toeC(5Patchy sclerosis of the distal phalanx of the 2nd toeG(9Symphalangism affecting the distal phalanx of the 2nd toe=(/Triangular shaped distal phalanx of the 2nd toe>(0Duplication of the distal phalanx of the 2nd toeI(;Complete duplication of the proximal phalanx of the 2nd toeH(:Partial duplication of the proximal phalanx of the 2nd toeG(9Complete duplication of the distal phalanx of the 2nd toeF(8Partial duplication of the distal phalanx of the 2nd toeG(9Complete duplication of the middle phalanx of the 2nd toeF(8Partial duplication of the middle phalanx of the 2nd toe;(-Partial duplication of phalanx of the 2nd toeB(4Complete duplication of the phalanges of the 2nd toe5('Aplasia of the phalanges of the 2nd toe*(Short phalanx of the 2nd toe2($Absent distal phalanx of the 2nd toe1(#Short distal phalanx of the 2nd toe:(,Aplasia of the middle phalanx of the 2nd toe1(#Short middle phalanx of the 2nd toe<(.Aplasia of the proximal phalanx of the 2nd toe3(%Short proximal phalanx of the 2nd toe4(&Abnormal ventricular septum morphology2($Ectopic accessory toe-like appendage5('Ectopic accessory finger-like appendage( Polydactyly( Bifid femur$(Pulmonic regurgitation)(Primum atrial septal defect (Tricuspid stenosis( Anal fistula(Colonic atresia!(Esophageal stenosis.( Aplasia/Hypoplasia of the spleen#(Ectopia of the spleen#(Pelvic bone asymmetry(Acetabular spurs#(Steep acetabular roof7()Abnormal greater sciatic notch morphology9(+obsolete Widening of the sacrosciatic notch"^*(Female pseudohermaphroditism"(True hermaphroditism1(#Abnormality of the female genitalia/(!Abnormality of the male genitalia-(Aplasia/Hypoplasia of the ovary"(Aplasia of the ovary( Streak ovary+(Precocious puberty in females.( Aplasia/Hypoplasia of the testes( Absent testis"(Supernumerary testes (Oligosacchariduria:(,Abnormal circulating porphyrin concentration( Porphyrinuria(Bladder stones(Cloacal exstrophy/(!Aplasia/Hypoplasia of the bladder$(Aplasia of the bladder((Abnormality of the urachus(Patent urachus(Urethral fistula(Urethral valve*(Acromelia of the upper limbs1(#Amniotic constriction rings of arms+(Hypertrophy of the upper limb)(Hyperextensibility at elbow4(&Abnormality of the hypothenar eminence'(Small hypothenar eminence6((Aplasia/Hypoplasia of the palmar creases"(Absent palmar crease/(!Abnormality of the palmar creases'(Digital constriction ring'(Osseous finger syndactyly(Long metacarpals*(Acromelia of the lower limbs1(#Amniotic constriction rings of legs+)Hypertrophy of the lower limb) Sirenomelia)Bipartite patella")Patellar subluxation,)Hyperextensibility of the knee))Limitation of knee mobility)Fibular bowing!)Fibular duplication+)Increased length of the tibia.) Limitation of movement at ankles.) Abnormal plantar dermatoglyphics) Foot asymmetry) Metatarsus valgus)) Aplasia of the tarsal bones))Hypermobility of toe joints)Long toe#)Adrenal calcification%)Pituitary calcification)Hyperpituitarism.) Aplasia/Hypoplasia of the thymus )Thymus hyperplasia#)Ectopic thymus tissue)Thyroglossal cyst&)Increased fetal movement) Gait apraxia)Dyslexia)Alexia*)Disturbed sensory perception)Finger agnosia) Dysgraphia) Astereognosis) Prosopagnosia)! Echolalia)"Palatal tremor)#Spinal myoclonus )$Paroxysmal vertigo)%Spasmus nutans&)&Transient global amnesia)' Sleep apnea!)(Central sleep apnea"))Wide cranial sutures!)*Small sella turcica)+Thin calvarium8),*Advanced pneumatization of cranial sinuses#)-Cutis gyrata of scalp").Vestibular nystagmus)/ Opsoclonus )0Vertical nystagmus )1Downbeat nystagmus!)2Muscle fibrillation)3Muscle flaccidity!)4Percussion myotonia<)5.Weakness due to upper motor neuron dysfunction)6 Paraplegia$)7Paraplegia/paraparesis)9Oculogyric crisis)):Cutaneous finger syndactyly!)=Overlapping fingers')>Abnormality of the clivus)?Vertical clivus )@Undulate clavicles)A Undulate ribs)BKeloids)DBifid epiglottis2)E$Aplasia/Hypoplasia of the Epiglottis)F Hamartoma")GY-shaped metatarsals")HHamartoma of the eyeE)I7Elevated circulating 7-dehydrocholesterol concentrationF)J8Low maternal circulating alpha-fetoprotein concentration>)K0Elevated circulating phytanic acid concentration>)N0Abnormality of the epiphysis of the femoral head+)ODysplasia of the femoral head()PIntracranial cystic lesion)QAbsent epiphyses)RBracket epiphyses#)SCone-shaped epiphysis )TEnlarged epiphyses!)VIrregular epiphyses)WIvory epiphyses)XPseudoepiphyses)YSmall epiphyses")[Triangular epiphysis-)\Premature epimetaphyseal fusion9)^+Abnormality of the distal femoral epiphysis:)_,Abnormality of the proximal tibial epiphysis8)`*Abnormality of the distal tibial epiphysis3)a%Abnormal fibular epiphysis morphology;)b-Abnormality of the proximal fibular epiphysis9)c+Abnormality of the distal fibular epiphysis:)d,Abnormality of the proximal radial epiphysis8)e*Abnormality of the distal radial epiphysis;)f-Abnormality of the proximal humeral epiphysis9)g+Abnormality of the distal humeral epiphysis8)h*Abnormal distal ulnar epiphysis morphology:)i,Abnormal proximal ulnar epiphysis morphology.)j Type 2 muscle fiber predominance0)k"Odontogenic keratocysts of the jaw )lCyst of the eyelid)m Chalazion)n Hordeolum )oHordeolum externum )pHordeolum internum)q Skin tags)r Palmar pits)t Plantar pits)vFibroma)w Angiofibromas)x Lung fibroma)yCardiac fibroma)zOvarian fibroma(){Fibroadenoma of the breast)|Malar prominence*)}Cutaneous syndactyly of toes-)~Neoplasm of the skeletal system*)Aplastic/hypoplastic toenail+)Anterior pituitary dysgenesis))Anterior pituitary agenesis+)Anterior pituitary hypoplasia) Facial palsy>)0Abnormal morphology of the cortex of the humerus6)(Abnormal metatarsal epiphysis morphology6)(Abnormality of the epiphyses of the feet) Total anosmia)Partial anosmia)Total hyposmia)Partial hyposmia)Schizencephaly&)Conjunctival amyloidosis=)/Elevated alkaline phosphatase of hepatic origin:),Elevated alkaline phosphatase of bone origin.) Abnormal nasal cavity morphology0)"Abnormality of the midnasal cavity)Midnasal atresia)Midnasal stenosis9)+Aplasia of the distal phalanges of the toes()Cervical spine instability))Abnormal elasticity of skin!)Dermal translucency)Flat nasal alae*)Hypoplasia of the premaxilla+)Abnormal meningeal morphology,)Abnormal dura mater morphology-)Abnormality of the falx cerebri))Aplasia of the falx cerebri")Epiphyseal stippling.) Abnormal epiphyseal ossification6)(Patchy reduction of bone mineral density4)&Patchy changes of bone mineral density6)(Patchy variation in bone mineral density-)Abnormal hand bone ossification5)'Absence of the third cerebral ventricle.) Abnormal diencephalon morphology*)Abnormal thalamus morphology2)$Fusion of the left and right thalami")Bilateral coxa valga4)&Hypoplasia of the anterior nasal spine$)Aplasia of the maxilla0)"Abnormal zygomatic bone morphology.) Hypoplasia of the zygomatic bone6)(Abnormality of the third metatarsal bone8)*Abnormal curvature of the vertebral column-)Abnormal foot bone ossification)Mechanical ileus)Enuresis nocturna)Enuresis diurna?)1Elevated tissue non-specific alkaline phosphatase;)-Elevated alkaline phosphatase of renal origin6)(Elevated intestinal alkaline phosphatase5)'Elevated placental alkaline phosphatase:),Low tissue non-specific alkaline phosphatase5)'Low alkaline phosphatase of bone origin6)(Low alkaline phosphatase of renal origin8)*Low alkaline phosphatase of hepatic origin1)#Low intestinal alkaline phosphatase0)"Low placental alkaline phosphatase&)Mirror image polydactyly+)Mirror image hand polydactyly+)Mirror image foot polydactyly,)obsolete 2-5 finger syndactyly")Pulverulent cataract+)Lamellar pulverulent cataract)Sutural cataract)Polar cataract))Anterior pyramidal cataract*)Nuclear pulverulent cataract))Triangular nuclear cataract%)obsolete Total cataract?)1Abnormal circulating immunoglobulin concentration:),Increased circulating antibody concentration-)1-2 finger cutaneous syndactyly-)4-5 finger cutaneous syndactyly-)1-3 finger cutaneous syndactyly-)1-4 finger cutaneous syndactyly-)1-5 finger cutaneous syndactyly-)2-4 finger cutaneous syndactyly#)3-5 finger syndactyly )1-2 toe syndactyly )1-4 toe syndactyly )1-5 toe syndactyly )2-4 toe syndactyly )2-5 toe syndactyly )3-5 toe syndactyly()Osseous syndactyly of toes))Abnormality of hair texture#)Abnormal hair pattern!)Abnormal hair whorl#)Asymmetry of the ears*)Cystic lesions of the pinnae<).Advanced pneumatization of the mastoid process,)Prominent corneal nerve fibers.) Spontaneous rupture of the globe#)Aplasia of the retina+)Cherry red spot of the macula)Double eyebrow8)*Extension of eyebrows towards upper eyelid3)%Nodular changes affecting the eyelids+)Naevus flammeus of the eyelid,)Fibrous dysplasia of the bones+)Polyostotic fibrous dysplasia*)Monostotic fibrous dysplasia)Osteopoikilosis!)Osteopathia striata) Pedal edema&)Edema of the upper limbs)Short metatarsal$)Absent metatarsal bone2)$Aplasia of the phalanges of the toes5)'Hypoplasia of the phalanges of the toes+)Medial flaring of the eyebrow&)Ectopic lacrimal punctum)Blepharochalasis)Dermatochalasis) Dimple chin*Cleft mandible(*Midline defect of mandible8**Abnormality of the temporomandibular joint&*Asymmetry of the maxilla2*$Aplasia/Hypoplasia of the premaxilla'*Aplasia of the premaxilla+*Abnormality of the premaxilla**Prominence of the premaxilla* Absent toe* Broad columella* Chordoma(* Low insertion of columella* Short eyelashes#* Palmar hyperkeratosis#*Ectopic calcification2*$Sacrococcygeal pilonidal abnormality*Pilonidal sinus*Pilonidal fistula*Pilonidal abscess/*!Anomalous pulmonary venous return7*)Partial anomalous pulmonary venous return*Cor triatriatum* Vascular ring!*Tracheobronchmegaly* Bronchomegaly* Tracheomegaly*Large pelvis bone* Hyperacusis* Skin dimple*Shoulder dimple*Erythema* Uterine neoplasm*!Gonadal neoplasm$*"Urinary tract neoplasm*#Genital neoplasm!*$Testicular neoplasm-*%Abnormality of the Leydig cells,*&Hypoplasia of the Leydig cells-*'Hyperplasia of the Leydig cells*) Bifid nail:**,Impaired visuospatial constructive cognition*+Cerebellar glioma*,Brainstem glioma*-Hemangioblastoma*. Lip freckle*/ Pinealoma *0Absent cupid's bow,*1Underdeveloped nasolabial fold(*2Perioral hyperpigmentation)*3Everted upper lip vermilion(*4Tented upper lip vermilion'*5Upturned corners of mouth**6U-Shaped upper lip vermilion*7 Open bite*8Protruding tongue*9 Broad uvula*: Long uvula*; Narrow uvula*< Short uvula,*=Abnormal number of hair whorls-*>Abnormal position of hair whorl*?Nevus sebaceous*@Epidermal nevus$*ALinear nevus sebaceous'*BGeneralized tonic seizure*CAtonic seizure1*D#Focal emotional seizure with crying3*E%Focal emotional seizure with laughing#*FScintillating scotoma$*GRidged cranial sutures5*H'Abnormal fifth cranial nerve morphology7*I)Abnormality of the eleventh cranial nerve6*J(Abnormality of the twelfth cranial nerve1*K#Abnormal seventh cranial physiology*LHemifacial spasm,*MImpaired temperature sensation(*NImpaired tactile sensation%*OImpaired proprioception+*PAbnormality of pain sensation(*QSpontaneous pain sensation-*RTrophic changes related to pain&*SDissociated sensory loss7*T)Abnormal circulating copper concentration?*U1Decreased circulating ceruloplasmin concentration6*V(High nonceruloplasmin-bound serum copper4*W&Increased urinary copper concentration0*Y"Multifocal epileptiform discharges**[EEG with focal slow activity/*\!EEG with multifocal slow activity0*]"EEG with generalized slow activity<*^.EEG with persistent abnormal rhythmic activity5*_'EEG with spike-wave complexes (<2.5 Hz)8*`*EEG with spike-wave complexes (2.5-3.5 Hz)5*a'EEG with spike-wave complexes (>3.5 Hz)+*bEEG with spike-wave complexes(*cEEG with burst suppression/*d!EEG with photoparoxysmal responseC*e5EEG with periodic lateralized epileptiform discharges9*f+EEG with generalized low amplitude activity7*g)EEG with localized low amplitude activity)*hEEG with periodic complexes-*iEEG with periodic abnormalitiesG*j9EEG with hyperventilation-induced epileptiform discharges'*kFrank breech presentation**lComplete breech presentation,*mIncomplete breech presentation,*nDelayed fine motor development&*oReceptive language delay-*pIntellectual disability, severe+*qOppositional defiant disorder#*rAbdominal wall defect*s Dyssynergia *tOcular dyssynergia*u Asynergia*wSensory ataxia*xT-wave inversion**yCervical spinal cord atrophy"*zTendon xanthomatosis*{Chaddock reflex8*|*Abnormal circulating protein concentration"*}Monocular strabismus"*~Fetal cystic hygroma&*Postnatal cystic hygroma+*Increased nuchal translucency/*!Abnormality of the umbilical cord%*Pulmonary valve atresia"*Aortic valve atresia* Acromelia *Avascular necrosis'*Osteochondritis dissecans*Morbus Koehler*Morbus Kienboeck%*Morbus Osgood-Schlatter *Morbus ScheuermannJ**0Abnormal circulating phenylalanine concentrationI*;Abnormal circulating serine family amino acid concentration8**Abnormal circulating glycine concentration*Hypersarcosinemia*Hypersarcosinuria:*,Abnormal circulating sarcosine concentrationL*>Abnormal circulating aspartate family amino acid concentration:*,Abnormal circulating threonine concentration;*-Abnormal circulating methionine concentrationL*>Abnormal circulating glutamine family amino acid concentration:*,Abnormal circulating glutamine concentration:*,Abnormal circulating histidine concentration:*,obsolete Abnormality of histidine metabolism**Hyperhistidinemia8**Abnormal circulating proline concentration7*)Abnormal circulating lysine concentration9*+Abnormal circulating arginine concentration*Hypervalinemia*Hyperleucinemia;*-Abnormal circulating isoleucine concentration *Hyperisoleucinemia7*)Abnormal circulating valine concentrationK*=Abnormal circulating pyruvate family amino acid concentration8**Abnormal circulating alanine concentration9*+Abnormal circulating tyrosine concentration9*+Abnormal circulating cysteine concentration=*/Abnormal circulating homocysteine concentration*Zonular cataract"*Coralliform cataract!*Membranous cataract+*Anterior subcapsular cataract)*Posterior cortical cataract'*Nuclear punctate cataract!*Aculeiform cataract;*-Abnormal blood inorganic cation concentrationB*4obsolete Increased urinary orotic acid concentration 1*#Abnormal blood cation concentrationF*8Abnormal blood monovalent inorganic cation concentration1*#Abnormal blood sodium concentration;*-Abnormal circulating nucleobase concentration*Hyperxanthinemia* Xanthinuria4*&Abnormality of the upper urinary tract4*&Abnormality of the lower urinary tract0*"Abnormal nasal skeleton morphology/*!Abnormal external nose morphology,*Abnormal nasal bone morphology2*$Aplasia/Hypoplasia of the nasal bone'*Aplasia of the nasal bone**Echogenic intracardiac focus#*Echogenic fetal bowel.* Abnormal renal pelvis morphology*Fetal pyelectasis,*Dilatation of the renal pelvis6*(Abnormality of ductus venosus blood flow6*(Abnormal fetal cardiovascular morphology6*(Abnormality of umbilical vein blood flow2*$Abnormal fourth ventricle morphology1*#Abnormal third ventricle morphology)*Mild fetal ventriculomegaly,*Noncommunicating hydrocephalus%*Hypoplastic right heart'*Dilatation of the bladder*Fetal megacystis1*#Congenital posterior urethral valve&*Bilateral renal agenesis6*(Congenital pulmonary airway malformation5*'obsolete Bronchopulmonary sequestration/*!obsolete Intralobar sequestration,/*!obsolete Extralobar sequestration;*-Absence of stomach bubble on fetal sonographyF*8Abnormal circulating long-chain fatty-acid concentration>*0Abnormal circulating phytanic acid concentrationA*3Abnormal circulating fatty-acid anion concentration:*,Abnormal circulating carnitine concentration6*(Abnormality of liposaccharide metabolism2*$Abnormality of glycolipid metabolism-*Blood group antigen abnormality9*+Absence of Lutheran antigen on erythrocytes-*Anemia of inadequate production3*%Abnormal myeloid leukocyte morphology#*Abnormal B cell count*B lymphocytopenia#*Abnormal phagocytosis5*'Abnormality of immune system physiologyB*4Abnormality of lipoprotein cholesterol concentration"*Hyperlipoproteinemia!*Hypolipoproteinemia#*Polygenic inheritance$*Oligogenic inheritance!*Digenic inheritance,*obsolete Gonosomal inheritance8**Abnormal cellular immune system morphology2*$Abnormality of the extrinsic pathway2*$Abnormality of the intrinsic pathway;*-Abnormality of the common coagulation pathway>*0Abnormal morphology of the abdominal musculature)*Stress urinary incontinence4*&Abnormal cerebral subcortex morphology1*#Abnormal corpus striatum morphologyB*4Abnormal circulating dicarboxylic acid concentrationD*6Abnormal circulating monocarboxylic acid concentration@*2Chromosomal breakage induced by ionizing radiationO*AIncreased susceptibility to spontaneous sister chromatid exchange(*Aplasia of the optic tract3*%Aplasia/Hypoplasia of the optic tract,*Increased bone mineral density* Osteopetrosis* High myopia3*%Abnormal systemic arterial morphology*Mixed cirrhosis@*2Abnormal morphology of the musculature of the neck+Temporal pattern+Acute+Chronic+Subacute?+1Abnormal circulating polysaccharide concentration=+/Abnormal circulating carbohydrate concentration*+Abnormal glucose homeostasis2+$Abnormal blood glucose concentrationA+3obsolete Abnormality of urine glucose concentration *+ Abnormal cellular physiology++ Abnormality of the cell cycle4+ &Abnormality of chromosome condensation:+ ,Abnormality of mucopolysaccharide metabolism7+ )Abnormal circulating enzyme concentrationG+9Abnormal circulating unsaturated fatty acid concentration<+.Abnormal circulating prostaglandin circulation7+)Abnormality of the gastrointestinal tract7+)Abnormal cardiovascular system physiology.+ Aplasia/Hypoplasia of the vagina0+"Abnormal fallopian tube morphology.+ Abnormality of blood circulation!+Internal hemorrhageD+6Abnormal blood transition element cation concentration-+Abnormality of iron homeostasis-+Abnormality of fluid regulation/+!Impairment of fructose metabolism+ Amyloidosis.+ Abnormal renal cortex morphology,+Abnormality of renal excretion$+Decreased urine output/+!Abnormal renal tubular resorption'+Abnormal helix morphology8+ *Abnormal intrahepatic bile duct morphology6+!(Aplasia/Hypoplasia of the cervical spine4+"&Abnormal blood potassium concentrationD+#6Abnormal circulating adrenocorticotropin concentration0+$"Abnormal number of permanent teeth=+%/Agenesis of permanent maxillary central incisor;+&-Agenesis of primary maxillary central incisor<+'.Agenesis of primary mandibular central incisor>+(0Agenesis of permanent mandibular central incisor;+)-Agenesis of primary maxillary lateral incisor=+*/Agenesis of permanent maxillary lateral incisor"++Agenesis of premolar,+,Agenesis of maxillary premolar-+-Agenesis of mandibular premolar+.Agenesis of molar)+/Agenesis of permanent molar5+0'Agenesis of first permanent molar tooth0+1"Agenesis of second permanent molar'+2Generalized periodontitis%+3Localized periodontitis@+42Dentinogenesis imperfecta limited to primary teeth-+5Abnormality of dental structure&+6Misalignment of incisors)+7Abnormal incisor morphology)+8Abnormal number of incisors+9Conical incisor+; Mesiodens+<Odontoma!+=Supernumerary tooth'+>Abnormal molar morphology1+?#Abnormal permanent molar morphology+@Rootless teeth)+AAbnormality of dental color3+B%Localized hypoplasia of dental enamel+C Green teeth%+DAbnormality of premolar"+EAbnormality of molar#+FAbnormality of canine+GImpacted tooth*+HAbnormal premolar morphology!+IIncisor macrodontia%+JConical primary incisor'+KConical maxillary incisor0+L"Hypocalcification of dental enamel&+MHypomature dental enamelF+N8Dentinogenesis imperfecta of primary and permanent teeth+O Talon cusp+P Dens in dente+Q Double tooth+R Fused teeth+S Gemination+TMulberry molar&+UMolarization of premolar +VIncreased overbite+WOverjet&+XPeripheral demyelination+YEpileptic spasm+ZSpeech apraxia!+[Spastic hemiparesis +\Intestinal atresia+^ Ileal atresia@+_2Abnormal left ventricular outflow tract morphology5+`'Abnormality of blood volume homeostasis+a Hypervolemia+b Hypovolemia++cRecurrent aphthous stomatitis!+dRecurrent sinusitis+eChronic sinusitis#+fRecurrent tonsillitis6+g(Abnormal immune serum protein physiology9+h+Abnormal circulating cytokine concentration/+i!Abnormality of cytokine secretion?+j1Defective production of NFKB1-dependent cytokines:+k,Abnormal circulating chemokine concentration;+l-Abnormal circulating interferon concentration<+m.Abnormal circulating interleukin concentration<+n.Abnormality of tumor necrosis factor secretion.+o Abnormal nasal dorsum morphology!+pConcave nasal ridge&+qAbnormal skin morphology,+rAbnormality of skin physiology2+s$Inflammatory abnormality of the skin++tAbnormal epidermal morphology/+u!Abnormality of dermal melanosomes+v Nephroptosis+wPerioral eczema'+xAcute esophageal necrosis)+yBilateral fetal pyelectasis-+zAbnormal renal calyx morphology!+{Perianal dermatitis"+|Chronic furunculosis9+}+Increased sensitivity to ionizing radiation+~Low-grade fever4+&Aplasia/Hypoplasia of the sweat glands)+Aplasia of the sweat glands$+Non-pruritic urticaria-+Abnormal skin adnexa morphology!+Gastric duplication*+Gastrointestinal duplication"+Age-related cataract*+Age-related nuclear cataract++Age-related cortical cataract8+*Age-related posterior subcapsular cataract"+Symptomatic seizures+Dialeptic seizure%+Typical absence seizure=+/obsolete Absence seizures with special featuresI3+%Absence seizure with eyelid myoclonia'+Myoclonic absence seizure1+#Atypical absence status epilepticus*+Early onset absence seizures!+Focal motor seizure%+Focal autonomic seizureK+=obsolete Focal autonomic seizures with altered responsivenessN+@obsolete Focal autonomic seizures without altered responsiveness#+Focal sensory seizure:+,Focal sensory seizure with auditory featuresp+bFocal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena;+-Focal sensory seizure with gustatory features;+-Focal sensory seizure with olfactory features$+obsolete Psychic auras?+1Focal sensory seizure with somatosensory features'+obsolete Vegetative auras+8+*Focal sensory seizure with visual features%+Focal myoclonic seizure!+Focal tonic seizure1+#Focal seizure with eyelid myoclonia(+Generalized clonic seizure2+$Generalized myoclonic-atonic seizure$+Simple febrile seizure%+Complex febrile seizure++Focal behavior arrest seizure(+Focal hyperkinetic seizure.+ Focal motor seizure with version.+ EEG with constitutional variants5+'EEG with 4-5/second background activity+ Alpha-EEG+Beta-EEG+Partial beta-EEG+Low voltage EEG.+ Interictal epileptiform activityM+?EEG with hyperventilation-induced focal epileptiform dischargesS+EEEG with hyperventilation-induced generalized epileptiform discharges4+&EEG with focal epileptiform discharges`+RFocal epileptiform discharges with limited propagation to contralateral hemisphereM+?Focal EEG discharges with propagation to ipsilateral hemisphere@+2Focal EEG discharges with secondary generalization:+,Bilateral multifocal epileptiform dischargesC+5Uni- and bilateral multifocal epileptiform discharges;+-Unilateral multifocal epileptiform discharges7+)Polymorphic focal epileptiform discharges#+EEG with focal spikes-+EEG with series of focal spikes-+EEG with focal sharp slow waves(+EEG with focal sharp waves(+EEG with focal spike waves:+,EEG with generalized epileptiform discharges3+%EEG with generalized sharp slow wavesF+8EEG with generalized polymorphic epileptiform discharges)+EEG with changes in voltage++EEG with diffuse acceleration2+$EEG with abnormally slow frequencies/+!EEG with continuous slow activity1+#EEG with intermittent slow activity8+*EEG with generalized slow activity grade 18+*EEG with generalized slow activity grade 28+*EEG with generalized slow activity grade 38+*EEG with generalized slow activity grade 4(+EEG with occipital slowing7+)EEG with photoparoxysmal response grade I8+*EEG with photoparoxysmal response grade II9++EEG with photoparoxysmal response grade III8+*EEG with photoparoxysmal response grade IV +Hemihypsarrhythmia++Abnormal shape of the occiput2+$Abnormal shape of the frontal region+ Short face +Prominent forehead'+Vertical forehead creases +Depressed glabella +Metopic depression+ Ablepharon+ Epiblepharon.+ Aplasia/Hypoplasia of the eyelidC+5Elevated circulating C-reactive protein concentration +Horizontal eyebrow+ Broad eyebrow(+Laterally extended eyebrow!+Prominent eyelashes +Infra-orbital fold+Antihelical shelf+Absent antihelix*+Additional crus of antihelix!+Angulated antihelix.+ Broad inferior crus of antihelix2+$Prominent inferior crus of antihelix7+)Underdeveloped inferior crus of antihelix)+Prominent stem of antihelix++Serpiginous stem of antihelix.+ Underdeveloped stem of antihelix7+)Abnormality of inferior crus of antihelix.+ Abnormality of stem of antihelix7+)Abnormality of superior crus of antihelix7+)Underdeveloped superior crus of antihelix2+$Prominent superior crus of antihelix +Everted antitragus+Absent antitragus+Bifid antitragus'+Underdeveloped antitragus+ Cryptotia+Type I cryptotia+Type II cryptotia"+Absent crus of helix2+$Crus of helix connected to antihelix'+Serpiginous crus of helix,+Tragal bridge of crus of helix8+*Expanded terminal portion of crus of helix#+Darwin notch of helix&+Darwin tubercle of helix+ Crimped helix$+Forward facing earlobe3,%Discontinuous ascending root of helix, Cleft earlobe$,Microtia, first degree$,Microtia, third degree, Absent tragus, Bifid tragus,Duplicated tragus,Prominent tragus#,Underdeveloped tragus, Anisocytosis0, "Recurrent mycobacterial infections>, 0Recurrent mycobacterium avium complex infections', Vascular skin abnormality:, ,Abnormality of the urinary system physiology0,"Intrapulmonary lobar sequestration4,&Abnormality of urine bicarbonate level8,*Abnormality of urine calcium concentration6,(Abnormality of urine catecholamine level+,Abnormal hindbrain morphology/,!Abnormal metencephalon morphology1,#Short-segment aganglionic megacolon0,"Long-segment aganglionic megacolon),Total colonic aganglionosis1,#EEG with occipital sharp slow waves0,"EEG with parietal sharp slow waves0,"EEG with temporal sharp slow waves/,!EEG with frontal sharp slow waves/,!EEG with central sharp slow waves,,EEG with occipital sharp waves*,EEG with central sharp waves*,EEG with frontal sharp waves+,EEG with parietal sharp waves+, EEG with temporal sharp waves',!Abnormal digit morphology!,"Prominent digit pad',#Partial absence of finger,$Broad fingertip,% Absent foot,& Long palm$,'Convex contour of sole,( Broad thumb$,)Partial absence of toe,+ Splayed toes,, Slender toe,- Tapered toe#,.Bridged palmar crease,/ Sydney crease,0 Fused nails,1 Narrow nail+,2Abnormal long bone morphology#,3Unicoronal synostosis(,4Left unicoronal synostosis),5Right unicoronal synostosis",6Bicoronal synostosis#,7Bilambdoid synostosis$,8Unilambdoid synostosis),9Left unilambdoid synostosis*,:Right unilambdoid synostosis,; Cleft of chin.,< Multiple suture craniosynostosis,= Pansynostosis$,>Anterior plagiocephaly%,?Posterior plagiocephaly,,@Abnormal fontanelle morphology,,AAbnormality of cranial sutures ,BMetopic synostosis ,CHemifacial atrophy#,DHemifacial hypoplasia$,EAsymmetric crying face&,FFacial shape deformation,GFrontal hirsutism&,HBitemporal forceps marks',IAbnormality of mouth size(,JAbnormality of mouth shape1,K#Abnormality of upper lip vermillion/,L!Incomplete cleft of the upper lip,MLong upper lip-,NMild global developmental delay1,O#Moderate global developmental delay/,P!Severe global developmental delay0,Q"Moderate expressive language delay,,RMild expressive language delay-,SAbnormality of ocular abduction5,T'Abnormal sixth cranial nerve morphology%,Uobsolete Abducens palsy+,VMild receptive language delay/,W!Moderate receptive language delay-,XSevere receptive language delay',YArterial intimal fibrosis-,ZGeneralized abnormality of skin#,[Localized skin lesion*,\Regional abnormality of skin2,]$obsolete Abnormality of hair density,b2,^$Generalized hypopigmentation of hair,_Dry hair,,`Acquired abnormal hair pattern.,a Congenital abnormal hair pattern$,bAbnormal hair quantity-,cAbnormality of hair growth rate,d White hair-,ePatchy hypopigmentation of hair,g Yellow nails",hEpidermal thickening!,iMongolian blue spot3,j%Recurrent cutaneous fungal infections-,kRecurrent viral skin infections&,lAplasia of the inner ear1,m#Incomplete partition of the cochlea8,n*Incomplete partition of the cochlea type I,oCochlear aplasiaC,p5Abnormal morphology of the vestibule of the inner ear&,qAplasia of the vestibule:,r,Hypoplasia of the vestibule of the inner ear0,s"Dilated vestibule of the inner ear4,t&Abnormal semicircular canal morphology/,u!Aplasia of the semicircular canal2,v$Hypoplasia of the semicircular canal),wEnlarged semicircular canal8,x*Abnormality of the internal auditory canal,,yAbsent internal auditory canal,,zNarrow internal auditory canal*,{Enlarged vestibular aqueduct(,|Enlarged cochlear aqueduct5,}'Functional abnormality of the inner ear+,~Abnormal inner ear morphology1,#Abnormal inner ear nerve morphology1,#Abnormality of the vestibular nerve., Aplasia of the vestibular nerve.0,"Hypoplasia of the vestibular nerve/,!Aplasia/Hypoplasia of the cochlea/,!Abnormality of the cochlear nerveA,3Abnormality of the dorsal column of the spinal cord(,obsolete Central hypotonia., Tibialis anterior muscle atrophy&,Abnormal CNS myelination,,Delayed peripheral myelination., Demyelinating sensory neuropathy=,/Abnormal umbilical cord blood vessel morphology., Lethal short-trunk short stature6,(Childhood onset short-limb short stature5,'Infancy onset short-trunk short stature(,Proportionate tall stature6,(Moderate intrauterine growth retardation4,&Abnormal placental membrane morphology,Caesarian section,Forceps delivery,Ventouse delivery,Shoulder dystocia,Hydropic placenta ,Calcified placenta",Placental infarction!,Long umbilical cord2,$Abnormal insertion of umbilical cord!,Placental abruption, Age of death",Death in adolescence3,%Abnormal blood chloride concentration,Hyperchloremia",Increased serum zinc*,Fetal ultrasound soft marker(,Fetal choroid plexus cysts+,Enlarged fetal cisterna magna&,Short fetal femur length(,Short fetal humerus length,,Hypoplasia of fetal nasal bone-,Fetal fifth finger clinodactylyK,=Elevated maternal circulating alpha-fetoprotein concentrationL,>High maternal circulating chorionic gonadotropin concentrationK,=Low maternal circulating chorionic gonadotropin concentration;,-Low maternal circulating PAPP-A concentration/,!Abnormal maternal serum screening),Maternal autoimmune disease+,Maternal teratogenic exposure., Anesthetic-induced rhabdomylosis,,Alcohol-induced rhabdomyolysis3,%Abnormal medulla oblongata morphology-,Abnormal central motor function),Abnormality of coordination",Decorticate rigidity%,Athetoid cerebral palsy,,Abnormality of mental function3,%Hyposegmentation of neutrophil nuclei, Ankle clonus, Knee clonus#,Unusual CNS infection",Primary microcephaly6,(Functional abnormality of the middle ear',Abnormal incus morphology),Abnormal malleus morphology,Absent malleus, Absent stapes,Loss of eyelashes,Abdominal symptom",Esophageal carcinoma,Embryonal onset, Fetal onset,Young adult onset,Childhood onset2,$Aganglionosis of the small intestine$,Duodenal aganglionosis3,%Aplasia/Hypoplasia of the gallbladder ,Absent gallbladder, Facial tics!,Nasal regurgitation1,#Nasogastric tube feeding in infancy1,#Gastrostomy tube feeding in infancy9,+Abnormal small intestinal villus morphology,Villous atrophy>,0Childhood onset sensorineural hearing impairment),Persistent stapedial artery7,)Profound sensorineural hearing impairment,Upbeat nystagmus,True anophthalmia2,$Abnormal lacrimal punctum morphology',Unilateral microphthalmos/,!Abnormal lacrimal duct morphology0,"Abnormal lacrimal gland morphology8,*Anterior synechiae of the anterior chamber9,+Posterior synechiae of the anterior chamber',Corneolenticular adhesion(,Abnormal corneal thickness),Increased corneal thickness5,'Abnormal corneal endothelium morphology7,)Abnormal migration of corneal endothelium3,%Abnormal Descemet membrane morphology9,+Reduced number of corneal endothelial cells0,"Abnormal corneal stroma morphology1,#Central opacification of the cornea5,'Generalized opacification of the cornea4,&Abnormal corneal epithelium morphology(,Corneal neovascularization,Rubeosis iridis',obsolete Partial aniridia, Mydriasis, Polycoria!,Anterior lenticonus",Posterior lenticonus",Aplasia of the fovea$,Bull's eye maculopathy#,Cystoid macular edema*,Choroidal neovascularization,Macular flecks, Macular hole',Macular hyperpigmentation,Drusen,Macular schisis-,Hyperpigmentation of the fundus*,Retinal cavernous hemangioma-,Abnormality of binocular vision!,Abnormal stereopsis, Achromatopsia,Cone monochromacy, Dichromacy#,Anomalous trichromacy- Deuteranomaly- Deuteranopia- Protanopia- Iris cyst- Iris melanoma- Iris nevus'-Abnormality of lens shape- LentiglobusK-=Solitary congenital hypertrophy of retinal pigment epitheliumU- GMultiple bilateral congenital hypertrophy of retinal pigment epithelium- Retinal hole- Vitritis - Subretinal exudate2- $Snowflake vitreoretinal degenerationB-4Abnormal spatial orientation of the cardiac segments)-Abnormal atrial arrangement$-Right atrial isomerism#-Left atrial isomerism#-Atrial situs inversus$-Atrial situs ambiguousH-:Congenitally corrected transposition of the great arteries1-#Criss-cross atrioventricular valvesS-ECriss-cross atrioventricular valves with superior-inferior ventriclesV-HSuperior-inferior ventricles without criss-cross atrioventricular valves.- L-looping of the right ventricle9-+Abnormal connection of the cardiac segments2-$Abnormal atrioventricular connection;--Absent left sided atrioventricular connection<-.Absent right sided atrioventricular connectionU-GUniventricular heart with absent left sided atrioventricular connection-xBiventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connectiond-VRight sided atrium to left ventricle and absent left sided atrioventricular connection3- %Ambiguous atrioventricular connection4-!&Discordant atrioventricular connection6-"(Double inlet atrioventricular connection)-#Double inlet left ventricle*-$Double inlet right ventricleJ-%Abdominal ectopia cordis%-?Cervical ectopia cordis,-@Thoracocervical ectopia cordis%-AThoracic ectopia cordis--BThoracoabdominal ectopia cordis;-C-Abnormal branching pattern of the aortic arch"-DCervical aortic arch^-EPCommon origin of the right brachiocephalic artery and left common carotid artery -FDouble aortic archR-GDLeft aortic arch with cervical origin of the right subclavian artery>-H0Left aortic arch with isolated subclavian arteryM-I?Left aortic arch with retroesophageal diverticulum of KommerellN-J@Right aortic arch with retroesophageal diverticulum of KommerellK-K=Left aortic arch with retroesophageal right subclavian arteryV-LHLeft aortic arch with right descending aorta and right ductus arteriosusU-MGRight aortic arch with left descending aorta and left ductus arteriosusK-N=Right aortic arch with retroesophageal left subclavian artery-O Mesocardia4-P&Abnormal direction of ventricular apex5-Q'Rightward direction of ventricular apex3-R%Midline direction of ventricular apex;-S-Congenital malformation of the great arteries#-TAortopulmonary windowg-UYCongenitally corrected transposition of the great arteries with ventricular septal defectY-VKobsolete Transposition of the great arteries with intact ventricular septumY-WKobsolete Transposition of the great arteries with ventricular septal defect(-XType II truncus arteriosus)-YType III truncus arteriosus(-ZType IV truncus arteriosus%-[Interrupted aortic arch,-\Interrupted aortic arch type A,-]Interrupted aortic arch type B,-^Interrupted aortic arch type C1-_#Abnormal pulmonary situs morphology&-`Pulmonary situs inversus&-aPulmonary situs ambiguusM-b?Pulmonary situs ambiguus with bilateral morphologic right lungsL-c>Pulmonary situs ambiguus with bilateral morphologic left lungs,-dAbnormality of abdominal situs/-e!Gerbode ventricular septal defect--fInlet ventricular septal defect0-g"Muscular ventricular septal defect7-h)Apical muscular ventricular septal defect:-i,Multiple muscular ventricular septal defects-jScimitar anomaly&-kAorto-ventricular tunnel2-l$Congenital defect of the pericardium.-m Total absence of the pericardium;-n-Complete diaphragmatic absence of pericardium9-o+Complete right sided absence of pericardium8-p*Partial right sided absence of pericardium8-q*Complete left sided absence of pericardium7-r)Partial left sided absence of pericardium:-s,Partial diaphragmatic absence of pericardium--tAbnormal coronary artery originK-u=Anomalous origin of coronary artery from the pulmonary arteryP-vBAnomalous origin of left coronary artery from the pulmonary arteryQ-wCAnomalous origin of right coronary artery from the pulmonary artery+-xSingle coronary artery origin%-yCoronary artery fistula0-z"Abnormal coronary sinus morphology1-{#Coronary sinus atrial septal defect)-|Coronary sinus diverticulum1-}#Dilatation of the sinus of Valsalva2-~$Juxtaductal coarctation of the aorta1-#Postductal coarctation of the aorta:-,Patent ductus arteriosus after birth at term<-.Patent ductus arteriosus after premature birth)-Bilateral ductus arteriosusr-dDouble outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosisv-hDouble outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosiso-aDouble outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosiss-eDouble outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosisk-]Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosiso-aDouble outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosisn-`Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosisr-dDouble outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis=-/Tetralogy of Fallot with absent pulmonary valveK-=Anomalous origin of one pulmonary artery from ascending aortaL->Anomalous origin of left pulmonary artery from ascending aorta-Tricuspid atresia.- Right ventricular cardiomyopathy;--Left ventricular noncompaction cardiomyopathy&-Takotsubo cardiomyopathy--Absent right superior vena cava=-/Bilateral superior vena cava with bridging vein@-2Bilateral superior vena cava with no bridging veinJ-Supraventricular tachycardia with a manifest accessory pathway#-Cerebellar hemorrhageb-TSupraventricular tachycardia with a manifest accessory pathway on the left free wallc-USupraventricular tachycardia with a manifest accessory pathway on the right free wallZ-LSupraventricular tachycardia with a manifest accessory pathway on the septum(-Atrial reentry tachycardia*-Automatic atrial tachycardia+-Multifocal atrial tachycardiaB-4Abnormal electrophysiology of sinoatrial node origin-Sinus tachycardia!-Sick sinus syndrome1-#First degree atrioventricular block2-$Second degree atrioventricular block--Mobitz I atrioventricular block.- Mobitz II atrioventricular block+-Atrioventricular dissociation!-Bundle branch block,-Left anterior fascicular block'-Right bundle branch block&-Left bundle branch block"-Libman-Sacks lesions!-Trifascicular block,-Junctional ectopic tachycardia4-&Atrioventricular reentrant tachycardia0-"Abnormality of the pulmonary veinsF-8Supracardiac total anomalous pulmonary venous connectionA-3Cardiac total anomalous pulmonary venous connectionF-8Infracardiac total anomalous pulmonary venous connection?-1Mixed total anomalous pulmonary venous connection8-*Congenital malformation of the right heart- Uhl's anomaly3-%Chaotic multifocal atrial tachycardia*-Persistent fetal circulation&-Peroneal muscle weakness- Elbow clonus+-Abnormality of joint mobility/-!Abnormal central sensory function7-)Abnormality of circulating cortisol level)-Abnormal adrenal morphology/-!Abnormality of adrenal physiology+-Central adrenal insufficiencyA-3Adrenocorticotropin deficient adrenal insufficiency(-Primary hyperaldosteronismM-?Corticotropin-releasing hormone deficient adrenal insufficiency=-/Corticotropin-releasing hormone receptor defectC-5Dexamethasone-suppressible primary hyperaldosteronismC-5Glucocortocoid-insensitive primary hyperaldosteronism*-Secondary hyperaldosteronism#-Ectopic adrenal gland$-Adrenal gland agenesis(-Secondary hypercortisolism2-$Non-secretory adrenocortical adenoma.- Secretory adrenocortical adenoma3-%Abnormality of the anterior pituitary4-&Adrenocorticotropic hormone deficiency0-"Adrenocorticotropic hormone excess0-"Neoplasm of the anterior pituitary8-*Abnormal posterior pituitary morphogenesis1-#Neoplasm of the posterior pituitary,-Posterior pituitary dysgenesis- Pituicytoma)-Ectopic posterior pituitary*-Posterior pituitary agenesis,-Posterior pituitary hypoplasia5-'Pituitary acidophilic stem cell adenoma1-#Pituitary gonadotropic cell adenoma3-%Pituitary growth hormone cell adenoma)-Pituitary null cell adenoma0-"Pituitary thyrotropic cell adenoma!-Pituitary carcinoma/-!Pituitary spindle cell oncocytoma1-#obsolete Ectopic anterior pituitary1--Abnormal parathyroid morphology7-)Abnormality of the parathyroid physiology$-Parathyroid dysgenesis!-Ectopic parathyroid*-Tertiary hyperparathyroidism+-Autoimmune hypoparathyroidism)-Abnormal thyroid morphology-Uninodular goiter(-Thyroid follicular adenoma--Thyroid macrofollicular adenoma-.Thyroid microfollicular adenoma'.Thyroid papillary adenoma&.Thyroid atypical adenoma*.Anaplastic thyroid carcinoma".Thyroid hemiagenesis(.Thyroid C cell hyperplasia.Thyroid crisis8.*Thyrotoxicosis from ectopic thyroid tissue0."Thyrotoxicosis with diffuse goiter;. -Thyrotoxicosis with toxic multinodular goiter=. /Thyrotoxicosis with toxic single thyroid nodule$. Central hypothyroidism+. Increased circulating free T3A. 3Impaired sensitivity to thyroid stimulating hormoneD.6Activating thyroid-stimulating hormone receptor defectF.8Inactivating thyroid-stimulating hormone receptor defect#.Neoplasm by histology).Neoplasm by anatomical site&.Embryonal renal neoplasm,.Intralobar nephroblastomatosis+.Perilobar nephroblastomatosis3.%Papillary renal cell carcinoma type 1.Renal oncocytoma/.!Abnormality of facial soft tissue.Midface retrusion*.Enlargement of parotid gland!.Hamartoma of tongue. Bifid nose(.Abnormal muscle physiology1.#Abnormal skeletal muscle morphology).Type 1 muscle fiber atrophy'. Decreased patellar reflex".!Paradoxical myotonia/."!Impaired two-point discrimination).#Impaired touch localization.$Agraphesthesia+.%Increased cerebral lipofuscin2.&$Increased urinary hypoxanthine level.' Cephalocele$.(Parietal encephalocele!.)Basal encephalocele'.*Nasofrontal encephalocele).+Submucous cleft soft palate(.,Membranous choanal atresia1.-#Abnormal facial skeleton morphology.. Broad chin)./Chin with horizontal crease'.0Chin with H-shaped crease.1Tented philtrum).2Philtrum with midline raphe(.3Malaligned philtral ridges'.4Midline sinus of philtrum.5Narrow philtrum-.6Abnormal oral mucosa morphology .7Deviated nasal tip.8Narrow nasal tip#.9Overhanging nasal tip!.:Moyamoya phenomenon.;Absent scaphoid(.<Delayed talus ossification$.=Partial IgA deficiency.> Sclerodactyly#.?Abnormal T cell count..@ Abnormality of T cell physiology!.AVentricular flutter*.BAbnormal skeletal morphology1.C#Abnormal musculoskeletal physiology7.D)Abnormal appendicular skeleton morphology%.EShort second metatarsal.F Osteoblastoma&.GGiant cell tumor of bone.HAbdominal colic(.IAbnormal bone ossification.J Parotitis.KHemopericardium.LChylopericardium).MSerous pericardial effusion.NHemoperitoneum.OPharyngeal edema.PPica.Q Plasmacytoma(.RReduced factor IX activity .SPunctate keratitis".TMetaphyseal dappling%.UBilateral trilobed lung6.V(Abnormal bone collagen fibril morphology+.WAbnormal sternal ossification+.XElevated plasma pyrophosphate,.[Abnormal iliac wing morphology.\Sciatica(.]Abnormal platelet functionD.^6Impaired arachidonic acid-induced platelet aggregation>._0Impaired ristocetin-induced platelet aggregation<.`.Impaired thrombin-induced platelet aggregation%.aAbnormal platelet count..b Heparin-induced thrombocytopenia*.cAbnormal platelet morphology&.dAbnormal platelet volume,.eIncreased mean platelet volume;.f-Abnormal platelet membrane protein expression5.g'Decreased platelet glycoprotein Ib-IX-V:.h,Acute disseminated intravascular coagulation0.i"Decreased platelet glycoprotein VI/.j!Decreased platelet P2Y12 receptor(.kAbnormal platelet granules/.l!Abnormal umbilical stump bleeding#.mHemorrhage of the eye.nHyphema .oChoroid hemorrhage5.p'Bleeding requiring red cell transfusion..q Bleeding with minor or no trauma4.r&Prolonged bleeding following procedure$.sPost-partum hemorrhage;.t-Decreased circulating vitamin K concentration&.uAbnormal leukocyte countJ.v.0Abnormal superior cerebellar peduncle morphology4.&Elongated superior cerebellar peduncle-.Dilatation of mesenteric artery%.Decreased urinary urate.. Decreased plasma total carnitine'.Hypoplastic fifth toenail-.3-4 finger cutaneous syndactyly%.Anterior wedging of T12$.Anterior wedging of L2-.Increased urinary sulfite level+.Increased urinary thiosulfate%.Small vessel vasculitis;.-Bronchiolitis obliterans organizing pneumonia&.Bronchiolitis obliterans).Respiratory tract infection9.+Recurrent acute respiratory tract infection(.Acute infectious pneumonia. Bronchiolitis".Aspiration pneumonia(.Acute aspiration pneumonia .Pulmonary lymphoma7.)Nodular regenerative hyperplasia of liver$.Hepatic granulomatosis5.'Intestinal lymphoid nodular hyperplasia1.#Abnormal pectoral muscle morphology!.Retinal perforation>.0Unilateral hypoplasia of pectoralis major muscle&.Substantia nigra gliosis).Non-obstructive azoospermia%.Obstructive azoospermia'.Pretesticular azoospermia0."Intermittent painful muscle spasms;.-Abnormal circulating citrulline concentration(.Elevated plasma citrulline8.*Decreased circulating copper concentration".Feeding difficulties<..Elevated circulating luteinizing hormone level).Cerebral amyloid angiopathy&.Dermatographic urticaria.Hypoglycorrhachia!.Paroxysmal lethargy. Myelofibrosis1.#Aminoglycoside-induced hearing loss2.$Elevated urinary catecholamine level0."Elevated urinary homovanillic acid4.&Elevated urinary vanillylmandelic acid-.Elevated urinary dopamine level$.Cholesterol gallstones .Pigment gallstones&.Black pigment gallstones&.Brown pigment gallstones!.Atretic gallbladder.Acholic stools".Ectopic ossification3.%Ectopic ossification in muscle tissue3.%Ectopic ossification in tendon tissue5.'Ectopic ossification in ligament tissue2.$Abnormality of neutrophil physiology'.Abnormal neutrophil count,.Abnormal neutrophil morphology7.)Impaired neutrophil bactericidal activity/.!Abnormal atrial septum morphology&.Atrial septal dilatation4.&Elevated coagulation factor V activity(.Postprandial hyperlactemia(.Postprandial hyperglycemia.Paranoia).EEG with generalized spikes-.EEG with generalized polyspikes).Experiential epileptic aura&.Affective epileptic aura<..Focal cognitive seizure with deja vu/jamais vu. Deja vu aura.Jamais vu aura8.*Focal cognitive seizure with hallucination3.%Focal cognitive seizure with illusion0."EEG with central focal spike waves0."EEG with frontal focal spike waves2.$EEG with occipital focal spike waves1.#EEG with parietal focal spike waves1.#EEG with temporal focal spike waves+.EEG with central focal spikes+.EEG with frontal focal spikes-.EEG with occipital focal spikes,.EEG with parietal focal spikes,.EEG with temporal focal spikes. Lens luxation.Right aortic arch.. Persistent patent ductus venosus3.%Congenital portosystemic venous shunt. Galactosuria.Hypergalactosemia:.,Abnormal circulating ornithine concentration.Hyperornithinemia.Laryngeal edema$.Hepatocellular adenoma*.Abnormal urine hormone level.. Increased urinary cortisol level.Lipomatous tumor/Lipoma/ Sacral lipoma/ Liposarcoma%/Steatocystoma multiplex,/Sternocleidomastoid amyotrophy#/Pectoralis amyotrophy/Corneal guttata%/Descemet Membrane Folds#/Corneal stromal edema*/ Decreased fertility in males$/ Aspirin-induced asthma / Pendular nystagmus/ Seesaw nystagmus/ Retinal flecks&/Areflexia of upper limbs/ Hemeralopia$/Oromandibular dystonia /Laryngeal dystonia/Anasarca#/Reactive hypoglycemia"/Low serum calcitriol=//Decreased circulating calcifediol concentration /Choroidal melanoma#/Ciliary body melanoma /Cutaneous melanoma,/Superficial spreading melanoma/Nodular melanoma&/Lentigo maligna melanoma(/Acral lentiginous melanoma>/0Urinary excretion of sialylated oligosaccharides/ Bone cyst"/Aneurysmal bone cyst"/ Unicameral bone cyst*/!Multiple bony cystic lesions6/"(Increased urinary disaccharide excretion/#Glycopeptiduria$/$Aspartylglucosaminuria0/%"Keratan sulfate excretion in urine4/&&Chondroitin sulfate excretion in urine>/'0Abnormal circulating acylcarnitine concentration/(Aciduria2/)$Abnormal urinary acylglycine profile/* Tonic pupil"/+Personality disorder-/,Borderline personality disorder-/-Histrionic personality disorder$/.Motor conduction block5//'Abnormality of central motor conduction//0!Cerebellar granular layer atrophy!/1Enlarged cerebellum//2!Cerebellar Purkinje layer atrophy:/3,Ubiquitin-positive cerebral inclusion bodies7/4)Abnormality of skeletal muscle fiber size/5Pyuria$/6Abnormal urinary color*/7Abnormal mitochondrial shape#/8Abnormal urinary odor/9 Arteritis*/:Abnormal pancreas morphology0/;"Abnormality of pancreas physiology9/<+Abnormality of exocrine pancreas physiology:/=,Abnormality of endocrine pancreas physiology$/>Abnormal pancreas size(/?Multiple joint dislocation*/@Intracranial epidermoid cyst'/AIntracranial dermoid cyst)/BEdema of the dorsum of feet</C.Abnormality of circulating catecholamine level;/D-Abnormal circulating creatinine concentration(/EDecreased serum creatinine+/FAbnormal mitochondrial number./G Abnormality of the mitochondrion'/HParietal cortical atrophy(/IOccipital cortical atrophy'/JRhizomelic leg shortening(/KIncreased fibular diameter!/LOpen angle glaucoma$/MAngle closure glaucoma$/NHypoplasia of the pons=/O/Abnormality of circulating glucocorticoid level7/P)Abnormal circulating corticosterone level9/Q+Abnormal circulating creatine concentration#/REndometrial carcinoma/S Hepatitis8/T*Abnormal circulating albumin concentration/UHyperalbuminemia!/VLaryngeal carcinoma/WMethemoglobinemia$/XMethylmalonic aciduria/Y Panuveitis/ZAnterior uveitis/[Posterior uveitis"/\Intermediate uveitis/]Prostate cancer/^Stomach cancer/_ Uraciluria$/`Basal ganglia necrosis6/a(Abnormality of bone marrow stromal cells8/b*Abnormal erythroid lineage cell morphology5/c'Abnormal number of erythroid precursors#/dErythroid hyperplasia"/eErythroid hypoplasia&/fDysplastic erythropoesis9/g+Abnormal granulocytopoietic cell morphology&/hDysplastic granulopoesis7/i)Abnormal number of granulocyte precursors&/jGranulocytic hyperplasia%/kGranulocytic hypoplasiaC/l5obsolete Abnormality of cells of the lymphoid lineage0/n"Pancreatic squamous cell carcinoma//o!Abnormal megakaryocyte morphology*/pAbnormal monocyte morphologyF/q8Abnormality of multiple cell lineages in the bone marrow2/r$Abnormality of von Willebrand factor7/s)Reduced quantity of Von Willebrand factor-/tMultiple lineage myelodysplasia&/uBilineage myelodysplasia+/vSingle lineage myelodysplasia/w Hemothorax/x Foveoschisis!/yHypotriglyceridemia/z Anhedonia)/{Decreased corneal sensation/|Hemophagocytosis*/}Subcortical cerebral atrophy'/~Carotid artery dissection0/"Internal carotid artery dissection=//Intracranial internal carotid artery dissection0/"External carotid artery dissection./ Common carotid artery dissection'/Carotid artery dilatation/ Asterixis/ Oligodactyly/ Skin-picking/ Hair-pulling/ Head-banging/ Self-biting/ Nail-biting)/Stereotypical hand wringing(/Stereotypical body rocking%/Orthostatic tachycardia%/Glioblastoma multiforme//!Resistance to activated protein C5/'Abnormal natural killer cell morphology5/'Abnormal natural killer cell physiology2/$Reduced natural killer cell activity#/Craniofacial dystonia$/Cystic medial necrosis#/Entrapment neuropathy3/%Oropharyngeal squamous cell carcinoma,/Hyperplastic colonic polyposis5/'Increased HDL cholesterol concentration,/Constrictive median neuropathy?/1Entrapment neuropathy of the ulnar nerve at elbow@/2Increased erythrocyte protoporphyrin concentration$/Hyperemesis gravidarum/Hodgkin lymphoma/T-cell lymphoma/B-cell lymphoma'/Cutaneous T-cell lymphoma,/Anaplastic large-cell lymphoma!/Episodic hemiplegia#/Irregular respiration'/Cheyne-Stokes respiration/ Insulinoma(/Juvenile colonic polyposis/Cluster headache(/Abnormality of prothrombin3/%obsolete Reduced prothrombin activity5/'Increased serum bile acid concentration/ Onychomycosis0/"Recurrent vulvovaginal candidiasis/Globozoospermia%/Abnormal sperm motility$/Reduced sperm motility/Immotile sperm./ Juvenile myelomonocytic leukemia'/Abnormal renal morphology'/Abnormal renal physiology1/#Abnormal glomerular filtration rate2/$Decreased glomerular filtration rate2/$Increased glomerular filtration rate'/Testicular microlithiasis:/,Entrapment neuropathy of suprascapular nerve//!Increased urinary porphobilinogen(/Alveolar soft part sarcoma/Erythema nodosum;/-Non-caseating epithelioid cell granulomatosis"/Pretibial blistering'/Arachnoid hemangiomatosis/Splenic rupture*/Circulating immune complexes*/Oligodontia of primary teeth/Ovarian teratoma /Urethral stricture#/Tension-type headache/CSF pleocytosis//!Rhegmatogenous retinal detachment*/Exudative retinal detachment#/Shortened QT interval$/Intramuscular hematoma/Agranulocytosis*/Drug-induced agranulocytosis%/Elevated sweat chloride/Urocanic aciduria=//Increased circulating chylomicron concentration/Atransferrinemia7/)Increased intramyocellular lipid droplets2/$Levator palpebrae superioris atrophy%/Superior rectus atrophy5/'Abnormal reproductive system morphology(/Abnormal sex determination/ Sex reversal$/Oculomotor nerve palsy/Specific anosmia#/Prolonged PR interval!/Abnormal ST segment#/ST segment depression"/ST segment elevation4/&Abnormal respiratory system morphology8/*Abnormal respiratory epithelium morphology/ Ewing sarcoma;/-Dynein arm defect of respiratory motile cilia&/Absent outer dynein arms&/Absent inner dynein armsH/:Abnormal axonemal organization of respiratory motile cilia0/"Absent inner and outer dynein armsW/IAbnormal central microtubular pair morphology of respiratory motile cilia;/-Abnormal respiratory motile cilium physiology'/Abnormal ciliary motility/Immotile ciliaU/GAbsent central microtubular pair morphology of respiratory motile cilia /Ciliary dyskinesia/T-wave alternans>/0Absent respiratory ciliary axoneme radial spokes /Myxoid liposarcoma./ Abnormal muscle glycogen content//!Decreased muscle glycogen content//!Episodic upper airway obstruction/J wave?/1Increased carotid artery intimal medial thicknessE/7Autosomal dominant inheritance with paternal imprintingE/7Autosomal dominant inheritance with maternal imprinting*/Digital flexor tenosynovitis/Hypoglycinemia7/)Abnormal circulating serine concentration/ Hyposerinemia!/Hepatic amyloidosis/Chylous ascites/Morbilliform rash,/Small distal femoral epiphysis-/Small proximal tibial epiphyses./ Abnormal hypothalamus physiology./ Abnormal hypothalamus morphologyK/=Hypothalamic luteinizing hormone-releasing hormone deficiency'0Neoplasm of head and neck0Facial neoplasm%0obsolete Mouth neoplasm)(0obsolete Tracheal neoplasm0Fusion of gums+0Abnormal genital pigmentation00"Abnormal occipital bone morphology.0 Slender middle phalanx of finger.0 Slender distal phalanx of finger00 "Slender proximal phalanx of finger+0 Long middle phalanx of finger+0 Long distal phalanx of finger0 Ureteral agenesis10 #Type II transferrin isoform profile)0Herpes simplex encephalitis-0Abnormal aortic arch morphology%0Hypoplastic aortic arch70)Coarctation of the descending aortic arch'0Abnormal rib ossification0Spatulate ribs?01Decreased circulating complement C9 concentration#0Cutaneous amyloidosis%0Abnormal monocyte count0 Monocytosis0 Monocytopenia0Heberden's node0Bouchard's node0 Histiocytoma%0Fibrous tissue neoplasm"0Sacroiliac arthritis!0Occipital neuralgia00"Absent pigmentation of the abdomen.0 Absent pigmentation of the limbs*0!D-2-hydroxyglutaric aciduria0"Perifolliculitis0#Sleep myoclonus0$Myeloid leukemia-0%Chronic myelomonocytic leukemia/0&!Abnormal celiac artery morphology'0'Celiac artery compression0( Cementoma0)Tufted angioma0*Pyelonephritis:0+,Abnormal autonomic nervous system morphology:0,,Abnormal autonomic nervous system physiology+0-Abnormal sudomotor regulation&0.Extrahepatic cholestasis.0/ Abnormality of folate metabolismY00Kobsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration0"01Abnormal homeostasis)02Abnormal energy expenditure203$Increased resting energy expenditure204$Decreased resting energy expenditure05Microprolactinoma06Macroprolactinoma:07,Decreased circulating ferritin concentration08Morphea$09Abnormal glycosylation,0:Abnormal protein glycosylation50;'Abnormal protein N-linked glycosylationI0<;Decreased galactosylation of N-linked protein glycosylationD0=6Abnormal sialylation of N-linked protein glycosylationE0>7Decreased sialylation of N-linked protein glycosylationE0?7Increased sialylation of N-linked protein glycosylationE0@7Abnormal fucosylation of protein N-linked glycosylationF0A8Decreased fucosylation of N-linked protein glycosylationF0B8Increased fucosylation of N-linked protein glycosylationF0C8Abnormal mannosylation of N-linked protein glycosylationG0D9Decreased mannosylation of N-linked protein glycosylationG0E9Increased mannosylation of N-linked protein glycosylation50F'Abnormal protein O-linked glycosylationE0G7Abnormal fucosylation of O-linked protein glycosylationF0H8Decreased fucosylation of O-linked protein glycosylationF0I8Increased fucosylation of O-linked protein glycosylationD0J6Abnormal sialylation of O-linked protein glycosylationE0K7Decreased sialylation of O-linked protein glycosylation)0LDecreased urinary potassium0MHypophosphaturia"0NBasilar invagination0OExtra fontanelles0P Flat face50Q'obsolete Abnormal malar bone morphology).0R Prominence of the zygomatic bone$0SHyperplasia of midface%0TAbnormal eye morphology%0UAbnormal eye physiology00V"obsolete Abnormal globe morphology0T0WChemosis0X Microphakia0Y Hemianopia0ZFatigueC0[5Abnormal circulating enzyme concentration or activityH0\:Reduced tissue carnitine O-palmitoyltransferase 2 activity70])Delayed self-feeding during toddler years!0^Left-to-right shunt!0_Bidirectional shunt0`Rhinitis0a Camptodactyly0b Absent hallux0c Bronchitis0dAcute bronchitis$0eAppendicular hypotonia0f Anal fissure)0gHyporeflexia of upper limbs0hJaw hyporeflexia0iAllergy%0jIodine contrast allergy0kSeasonal allergy 0lBiliary dyskinesia+0mAortic atherosclerotic lesion0nPeripheral edema0oPressure ulcer90p+Abnormal circulating aldolase concentration>0q0Abnormal urine alpha-ketoglutarate concentration?0r1Increased urine alpha-ketoglutarate concentration?0s1Decreased urine alpha-ketoglutarate concentration20t$Abnormal urine citrate concentration0uHypocitraturia0vHypercitraturia0w Scissor gait(0xMedullary nephrocalcinosis'0yCortical nephrocalcinosis#0zPure red cell aplasia 0{Premature pubarche"0|Premature adrenarche-0}Notched primary central incisor0~Duodenal atrophy&0Abnormal blood gas level0 Hypercapnia0 Hypocapnia0 Hypoxemia0 Hyperoxemia-0Meconium stained amniotic fluid,0Congenital absence of foreskin30%Villous hypertrophy of choroid plexus0Colonic inertia0Chorioretinitis0Stercoral ulcer0Optic disc drusen+0Increased femoral anteversion!0Prominent calcaneus=0/Aplasia/Hypoplasia of the cerebral white matter.0 Cerebral white matter hypoplasia0Episodic fatigue0Chronic fatigue&0Abnormal social behaviorB04Delayed early-childhood social milestone development,0Ventral shortening of foreskin:0,Nonocclusive coronary artery atherosclerosis-0Abnormal gallbladder morphology-0Abnormal gallbladder physiology/0!Abnormal biliary tract physiology/0!Abnormal biliary tract morphology*0Sphincter of Oddi dyskinesia$0Gallbladder dyskinesia'0Abnormal brain morphology0 Brain atrophyB04Decreased CSF 5-methyltetrahydrofolate concentration"0Abnormal myelination!0Delayed myelination(0Sacroiliac joint synovitis"0Chronic constipation 0Acute constipation0 Restless legs10#Bilateral wrist flexion contracture20$Unilateral wrist flexion contracture10#obsolete Large artery calcification +0Medial arterial calcification;0-Medial calcification of medium-sized arteries40&Medial calcification of small arteries0Hypnic headache30%Dysmorphic inferior cerebellar vermis0 Bacteriuria0Chin myoclonus-0Elevated transferrin saturation.0 Decreased transferrin saturation10#Elevated hepatic iron concentration*0Chronic respiratory acidosis(0Acute respiratory acidosis0Chronic acidosis0Infantile spasms(0Setting-sun eye phenomenon$0Thick vermilion border0Eclabion0Tongue atrophy&0Carotid artery occlusion>00Decreased circulating level of specific antibody<0.Decreased specific pneumococcal antibody level0 Vocal tremor/0!Temporomandibular joint ankylosis.0 Temporomandibular joint crepitus/0!Abnormal cerebral vein morphology%0Cerebral venous angioma$0Frontal venous angioma%0Abnormal alpha granules%0Abnormal dense granules@02Abnormal surface-connected open canalicular system0Myelitis30%Cerebellopontine angle arachnoid cyst-0Intraventricular arachnoid cyst(0Suprasellar arachnoid cyst0 Panniculitis+0Abnormal dense tubular system&0Cerebral artery stenosis-0Middle cerebral artery stenosis/0!Anterior cerebral artery stenosis00"Posterior cerebral artery stenosis20$Reduced maximal inspiratory pressure10#Reduced maximal expiratory pressure0 Nuchal cord*0Descending aortic dissection0Verrucous papule80*Abnormal brainstem white matter morphology10#Abnormality of the internal capsule10#Abnormal pituitary gland morphology.0 Abnormal size of pituitary gland&0Enlarged pituitary gland#0Small pituitary gland20$Weakness of orbicularis oculi muscle0Metamorphopsia/0!Reduced thyroxin-binding globulin:0,Extra-axial cerebrospinal fluid accumulation(0Temporal optic disc pallor'0Diffuse optic disc pallor0Upper limb pain0Lower limb pain!0Hip flexor weakness80*Tetralogy of Fallot with pulmonary atresia30%Reduced circulating catalase activity20$Abnormal circle of Willis morphology80*Hypoplastic posterior communicating artery.0 Dilation of Virchow-Robin spaces!0Optic nerve aplasia0Spider hemangioma0 Oral aversion%0Abnormal platelet shape10#Abnormal alpha granule distribution'0Absence of alpha granules,0Abnormal alpha granule content/0!Abnormal number of alpha granules,0Abnormal dense granule content/0!Abnormal number of dense granules0Pain0 Chronic pain0 Allodynia0 Dysesthesia,0Abnormal synaptic transmission80*Maternal anticardiolipin antibody positive0Food intolerance 0Gluten intolerance"0Non-Hodgkin lymphoma&0Axillary epidermoid cyst0Cephalohematoma0 Onychauxis0Hemosiderinuria91+Elevated circulating aldolase concentration81*Reduced circulating aldolase concentration,1Skewed maternal X inactivation01"Abnormal involuntary eye movements21$Fatty replacement of skeletal muscle!1Conjunctival lipoma1Colonic varices11#Absent neutrophil specific granules61(Increased neutrophil nuclear projections#1 Hypoplastic thumbnail1 Absent thumbnail#1 Absent nail of hallux"1 Hyperbeta-alaninemia71 )EEG with centrotemporal focal spike waves"1Abnormal T3/T4 ratio#1Increased T3/T4 ratio#1Decreased T3/T4 ratio$1Unicuspid aortic valve51'Premature epimetaphyseal fusion in hand51'Premature epimetaphyseal fusion in foot61(Premature epimetaphyseal fusion in tibia71)Premature epimetaphyseal fusion in fibula71)Premature epimetaphyseal fusion in radius51'Premature epimetaphyseal fusion in ulna 1Lower eyelid edema1Delayed menarche1Synovial sarcoma1 Ureter fissus1 Ureter duplex)1Global proximal tubulopathy(1Mesangial hypercellularity)1Abnormal nephron morphology&1 Glomerular C3 deposition/1!!Thin glomerular basement membrane$1"Membranous nephropathy/1#!Minimal change glomerulonephritis/1$!Calcium phosphate nephrolithiasis1%Simple renal cyst'1&Bilateral renal dysplasia)1'Unilateral renal hypoplasia(1(Bilateral renal hypoplasia1) Renal atrophy%1*Bilateral renal atrophy#1+Macroscopic hematuria21,$Steroid-resistant nephrotic syndrome41-&Multidrug-resistant nephrotic syndrome#1.Abnormal urine output81/*Abnormal urinary electrolyte concentration10 Albuminuria)11Nephrotic range proteinuria"12Moderate albuminuria13Mild proteinuria"14Moderate proteinuria15Heavy proteinuria416&Abnormal urine potassium concentration417&Abnormal urine phosphate concentration318%Abnormal urine chloride concentration19Hypochloriduria$1:Renal chloride wasting11;#Abnormal urine sodium concentration1< Hyponatriuria1=Hypernatriuria"1>Renal sodium wasting41?&Abnormal urine magnesium concentration1@Hypermagnesiuria1AHypomagnesiuria41B&Abnormality of urinary uric acid level.1C obsolete Increased urinary urate M41D&Abnormal urinary sulfate concentration'1EIncreased urinary sulfate%1FAbnormal urine cytology1G Cylindruria#1HLeukocyte cylindruria%1IErythrocyte cylindruria1J Urachal cyst*1KMultiple bladder diverticula!1LCloacal abnormality1MPersistent cloaca$1NChronic kidney disease,1OStage 1 chronic kidney disease,1PStage 2 chronic kidney disease,1QStage 3 chronic kidney disease,1RStage 4 chronic kidney disease1SPseudoexfoliation=1T/Abnormal suspensory ligament of lens morphology1U Phakodonesis51V'Abnormal trabecular meshwork morphology;1W-Pigment deposition in the trabecular meshwork+1XAbnormal intraocular pressure/1Y!Asymmetry of intraocular pressure%1ZIris pigment dispersion 1[Iris hypoperfusion$1\Retinal vein occlusion#1]Renal calcium wasting01^"Abnormal nervous system physiology01_"Abnormal nervous system morphology21`$Abnormality of intracranial pressure-1aDecreased intracranial pressure!1bCerebellar agenesis%1cFoveal hypopigmentation-1dIncreased caudate lactate level'1eEnlarged peripheral nerve1fRetractile testis,1gAbnormal inflammatory response-1hDecreased inflammatory response-1iIncreased inflammatory response(1jPerisylvian polymicrogyria1kAbasia%1lExercise-induced asthma 1mStatus asthmaticus11n#Abnormal CSF dopamine concentration11o#Elevated CSF dopamine concentration01p"Reduced CSF dopamine concentration91q+Abnormal brain positron emission tomography=1r/Abnormal brain FDG positron emission tomography21s$Prefrontal hypometabolism in FDG PET01t"Thalamic hypometabolism in FDG PET41u&Hypothalamic hypometabolism in FDG PET01v"Parietal hypometabolism in FDG PET?1w1Mildly reduced left ventricular ejection fraction81x*Reduced left ventricular ejection fractionC1y5Moderately reduced left ventricular ejection fractionA1z3Severely reduced left ventricular ejection fraction?1{1Regional left ventricular wall motion abnormality1|Vasovagal syncope#1}Carotid sinus syncope!1~Orthostatic syncope1Abulia1Akinetic mutism)1Aplasia of the upper vagina)1Aplasia of the lower vagina(1Iron accumulation in brain*1Copper accumulation in brain;1-obsolete Iron accumulation in globus pallidus 31%Iron accumulation in substantia nigra-1Widened interpedicular distance-1Abnormality of the pineal gland(1Abnormal pineal morphology(1Pineal gland calcification1 Pineal cyst$1Abnormal pineal volume%1Decreased pineal volume%1Increased pineal volume&1Agenesis of pineal gland.1 Abnormality of pineal physiology11#Abnormal pineal melatonin secretion%1T2 hypointense thalamus21$Focal T2 hypointense thalamic lesion31%Focal T2 hyperintense thalamic lesion$1Abnormal thalamic size&1Enlarged thalamic volume'1Decreased thalamic volume41&Abnormal thalamic MRI signal intensity!1Small basal ganglia 1Cerebellar gliosis-1Anomaly of lower limb diaphyses11#Abnormal large intestine physiology1 Bowel urgency1Tenesmus41&Abnormal subarachnoid space morphology(1Widened subarachnoid space51'Abnormal metabolic brain imaging by MRS11#Elevated brain choline level by MRS11#Elevated brain lactate level by MRS;1-Reduced brain N-acetyl aspartate level by MRS:1,Abnormal brain choline/creatine ratio by MRS1 Ingrown nail91+Delayed ossification of vertebral epiphysis%1Mild hearing impairment)1Moderate hearing impairment'1Severe hearing impairment)1Profound hearing impairment41&Moderate conductive hearing impairment21$Severe conductive hearing impairment81*Abnormal gastrointestinal tract morphologyB14Functional abnormality of the gastrointestinal tract"1Neoplasm of the nose!1Venous malformation1 Heart block1Sinoatrial block 1Upper eyelid edema"1Cutaneous syndactyly"1Episodic hypokalemia&1Thoracic aortic aneurysm:1,Fusiform descending thoracic aortic aneurysm:1,Saccular descending thoracic aortic aneurysm1Aglossia.1 Ectopic anterior pituitary gland1Anorectal anomaly1Macule"1Ketotic hypoglycemia1Cough11#Profound global developmental delay$1Small intestinal polyp 1Agenesis of canine-1Agenesis of the small intestine1 Papilloma'1Unilateral cryptorchidism1Thin fingernail1Abdominal obesity1Femoral aplasia%1Short palpebral fissure1 Thin toenail51'Abnormal brainstem MRI signal intensity41&Focal T2 hyperintense brainstem lesion31%Focal T2 hypointense brainstem lesion&1T2 hypointense brainstem91+Abnormal basal ganglia MRI signal intensity71)Focal T2 hypointense basal ganglia lesion*1T2 hypointense basal ganglia"1CNS hypermyelination 1Enlarged brainstem/1!CSF polymorphonuclear pleocytosis(1Abnormal neuron morphology&1Neurodevelopmental delay,1Neurodevelopmental abnormality+1Reduced social responsiveness1Absent mastoid+1Cerebral white matter atrophy 1Paroxysmal dyspnea1 Orthopnea31%Widened cerebellar subarachnoid space11#Widened cerebral subarachnoid space%1Abnormal placental size1Neonatal asphyxia1Abnormal arm span1Reduced arm span 1Increased arm span31%Abnormal upper to lower segment ratio21$Reduced upper to lower segment ratio41&Increased upper to lower segment ratio1 Stellate iris.1 Abnormal ciliary body morphology1Retinal neoplasm*1Retinal astrocytic hamartoma*1Transient hearing impairment!1Neoplasm of the ear(1Mid-frequency hearing loss(1Perilobar nephrogenic rest)1Intralobar nephrogenic rest1 Perinephritis+1Flexion contracture of finger 1Recurrent cystitis&1Recurrent pyelonephritis41&Reticulate pigmentation of oral mucosa)1Hypoplasia of the calcaneus31%Abnormal intramembranous ossification+1Abnormal humeral ossification>10Absent ossification of thoracic vertebral bodies1Kinked brainstem81*Periventricular white matter hypodensities,1Abnormal optic disc morphology)1Increased cup-to-disc ratio'1Lymphatic vessel neoplasm,1Pulmonary lymphangiomyomatosis%1Unilateral facial palsy&2Accessory cranial suture2 Narrow jaw2 Broad jaw2 Anisometropia 2Corneal ulceration+2Iris transillumination defect2 Proboscis)2High insertion of columella,2Abnormal nasal base norphology2 Narrow nasal base2 Wide nasal base2 Wide nasal ridge*2 Fullness of paranasal tissue*2 Unilateral breast hypoplasia)2Bilateral breast hypoplasia32%Hypoplastic female external genitalia<2.Right ventricular noncompaction cardiomyopathy*2Noncompaction cardiomyopathy82*Biventricular noncompaction cardiomyopathy2 Myocarditis,2Bilateral vocal cord paralysis+2Unilateral vocal cord paresis*2Bilateral vocal cord paresis2Clinical modifier2Severity2Mild2Moderate2 Borderline2Severe2Profound2Position2 Laterality2 Bilateral2! Unilateral2"Right2#Left2$Spatial pattern2% Generalized2& Localized2'Distal2(Proximal)2)Retinal vascular tortuosity%2*Skin appendage neoplasm$2+Hair follicle neoplasm2, Trichilemmoma"2-Single trichilemmoma&2.Multiple trichilemmomata*2/Epilepsia partialis continua'20Small intestinal stenosis'21Small intestinal bleeding*22Small intestinal dysmotility23Colonic stenosis'24Hepatic bridging fibrosis!25Scrotal hypospadias"26Midshaft hypospadias'27Scrotal hyperpigmentation'28Abnormal scrotal rugation(29Increased scrotal rugation(2:Decreased scrotal rugation$2;Esophageal leukoplakia!2<Testicular fibrosis2= Ovotestis+2>Abnormal germ cell morphology02?"Abnormal male germ cell morphology'2@Abnormal sperm morphology,2AAbnormal sperm head morphology,2BAbnormal sperm neck morphology12C#Abnormal sperm mid-piece morphology,2DAbnormal sperm tail morphology#2EAcephalic spermatozoa2FVanishing testis2G Varicocele.2H Abnormal vas deferens morphology!2IAbsent vas deferens:2J,Abnormal male reproductive system physiology"2KAbnormal ejaculation#2LPremature ejaculation$2MRetrograde ejaculation"2NRetarded ejaculation2O Anejaculation.2P Abnormal labia minora morphology.2Q Abnormal labia majora morphology'2RHyperplastic labia majora!2SFallopian tube cyst$2TFallopian tube torsion(2UFallopian tube duplication&2VHemorrhagic ovarian cyst(2WOvarian serous cystadenoma02X"Abnormal uterine cervix morphology$2YCervical endometriosis%2ZPosteriorly placed anus%2[High posterior hairline'2\Facial muscle hypertrophy%2]Neck muscle hypertrophy+2^Paraspinal muscle hypertrophy)2_Scapular muscle hypertrophy.2` Abnormal motor evoked potentials92a+Abnormal upper-limb motor evoked potentials92b+Abnormal lower-limb motor evoked potentials2cHandgrip myotonia"2dMyotonia of the face!2eMyotonia of the jaw(2fMyotonia of the lower limb(2gMyotonia of the upper limb%2hCold-sensitive myotonia2i Euryblepharon#N&Ciliary body colobomaNBDiffuse"NCLower limb dysmetria"NDUpper limb dysmetriaNEAstasia,NFVertebrobasilar dolichoectasia#NIDouble elevator palsy$NJDouble depressor palsy,NKVertical incomitant strabismus.NL Horizontal incomitant strabismusNM Esodeviation%NNAccommodative esotropia.NO Abnormal myeloid cell morphology2NP$Reduced bone-marrow pro-B cell countNQ ExodeviationWNRIAnti-granulocyte-macrophage colony stimulating factor antibody positivity-NVAbnormal erythrocyte physiology+NZAbnormal red blood cell count,N[Increased red blood cell count,N\Decreased red blood cell count/N]!Abnormal hemoglobin concentration0N^"Decreased hemoglobin concentration9N_+obsolete Increased hemoglobin concentrationl'N`Abnormal eosinophil countNgViremia$NhPersistent EBV viremia"NiHypopigmented maculeNj Crystalluria"NkLeucine crystalluriaNlWrist ganglionNm CarnitinuriaNn AlaninuriaNoBeta-alaninuria*NpErythrocyte inclusion bodies!NqPappenheimer bodiesNr Heinz bodiesNsFuruncleNt Carbuncle2Nu$Infection following live vaccinationNvBCGitisNwBCGosis&NxPost-vaccination measles&NyPost-vaccination rubella$NzPost-vaccination polio2N{$Post-vaccination rotavirus infection4N}&Recurrent deep organ abscess formation>N0Prolonged need of intravenous antibiotic therapy0N"Recurrent streptococcal infections4N&Infection due to encapsulated bacteria*Nobsolete Herpes encephalitis0(NSevere norovirus infection&NUnusual fungal infection'NInvasive fungal infection.N Pneumocystis jirovecii pneumonia.N Invasive pulmonary aspergillosis)NUnusual protozoan infection"NSevere toxoplasmosisNSevere giardiasis*NUnusual helminthic infection)NUnusual parasitic infectionN Bone fracture=N/Abnormal CD4+CD25+ regulatory T cell proportionBN4Increased proportion of CD4+CD25+ regulatory T cellsBN4Decreased proportion of CD4+CD25+ regulatory T cells7N)Persistent human papillomavirus infection7N)Hypoplastic dermoepidermal hemidesmosomes#NRadial artery aplasia;N-Abnormal retinal nerve fiber layer morphology'NRetinal nerve fiber edema<N.Conception by assisted reproductive technologyN Bite cellsNTympanosclerosis5N'Spontaneous conjunctival filtering blebN Prostate mass,NPeriarticular soft-tissue mass,NAplasia of the olfactory tract*NAbnormal urine protein levelJNN0Increased circulating adrenic acid concentrationQNCReduced response to gonadotropin-releasing hormone stimulation test*NGM1-ganglioside accumulation-NBranch retinal artery occlusion+NCilioretinal artery occlusion)NOphthalmic artery occlusion+NBranch retinal vein occlusion,NCentral retinal vein occlusion(NHemiretinal vein occlusion$NAbnormal drug response0N"Increased blood drug concentration0N"Decreased blood drug concentration#NAdverse drug response#NReduced drug efficacy&NRefractory drug response9N+Reduced circulating cholinesterase activity&NCholesterol crystalluriaKN=Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells+NAbnormal dendritic cell count<N.Abnormal circulating haptoglobin concentration(NElevated haptoglobin level'NReduced haptoglobin levelRNDAbnormal circulating A-type atrial natriuretic peptide concentrationLN>Increased circulating A-type natriuretic peptide concentrationLN>Decreased circulating A-type natriuretic peptide concentration+NSuperior cerebellar dysplasia#NMultilobulated spleenNThick pachygyriaMN?Anterior predominant pachygyria with 5-10 mm cortical thickness;N-Posterior predominant thick cortex pachygyria=N/Perisylvian predominant thick cortex pachygyria:N,Anterior predominant thick cortex pachygyria8N*Pachygyria with 5-10 mm cortical thickness&NProlonged reptilase time-NIgA heavy chain paraproteinemia-NIgG heavy chain paraproteinemia-NIgM heavy chain paraproteinemiaBN4Increased circulating arachidonic acid concentrationAN3Abnormal circulating 18-hydroxycorticosterone level=N/Decreased circulating 18-hydroxycortisone level=N/Increased circulating 18-hydroxycortisone level+NAbnormal sarcomere morphology(NAbnormal Z disk morphologyNZ-band streaming7N)Tubulointerstitial bacterial infiltration4N&Tubulointerstitial fungal infiltrationN Simple earNReflex seizure$NEating-induced seizure'NHot water-induced seizure$NPraxis-induced seizure,NProprioceptive-induced seizure%NReading-induced seizure+NSomatosensory-induced seizure%NStartle-induced seizure&NThinking-induced seizure&NVisually-induced seizure'NFocal aware motor seizure(NFocal aware atonic seizureN Motor seizure"NFocal atonic seizureNClonic seizure!NHypohomocysteinemia NDermal sinus tract"OMammary duct ectasiaOBreast abscessONipple tenderness"OFloating gallbladder,OBiospecimen phenotypic feature-OAbnormal lymph-node biospecimen5O'Abnormal lymph-node tissue architecture2O$Abnormal lymph-node cellular finding=O /Abnormal lymph-node cellular antigen expression4O &Altered lymph-node tissue architecture-O Effaced lymph-node architecture5O 'Vaguely nodular lymph-node architecture9O +Lymph-node capsular invasion by lymphocytesJOO'0Absent germinal center tingible body macrophages5O('Lack of germinal center mitotic figures(O)Non-polarized mantle zones+O*Hyalinized lymph-node vessels-O+Lymph-node follicular sclerosis+O,Compressed lymph-node sinuses.O- Lymph-node proliferation centers.O. Cytologic atypia in mantle cells.O/ Increased lymph-node eosinophils/O0!Increased lymph-node plasma cellsBO14High lymph node non-germinal center mitotic activity9O2+Lymph-node lymphocyte monocytoid morphologyEO37Reduced lymph node lymphocyte morphological variability7O4)Increased large lymphocytes in lymph node&O5Hodgkin morphology cells?O61Abnormal lymph-node lymphoctye nuclear morphology4O7&Irregular lymph-node lymphocyte nuclei'O8Lymph-node Dutcher bodies>O90Finely dispersed lymph node lymphocyte chromatin6O:(Abnormal lymph-node lymphocyte chromatin9O;+Clumping of lymph node lymphocyte chromatinAO<3Abnormal lymph-node lymphocyte cytoplasm morphology7O=)Decreased lymph node lymphocyte cytoplasm7O>)Increased lymph node lymphocyte cytoplasmCO?5Abnormal level of lymph-node cellular CD19 expressionCO@5Abnormal lymph-node cellular B-cell marker expressionCOA5Abnormal level of lymph-node cellular CD20 expressionOBCD79a expression;OC-Increased lymph-node cellular CD20 expression;OD-Decreased lymph-node cellular CD20 expression;OE-Decreased lymph-node cellular CD19 expression;OF-Increased lymph-node cellular CD19 expressionOGPAX5 expression:OH,Germinal center B-lymphocyte BCL2 expressionaHallux rigidus5a'Thickening of glomerular capillary wall6a(Abnormal glomerular capillary morphologya Ectopic fovea)aTracheal tug on inspiration-aForward slanting upper incisorsaFoveal atrophy(aPyriform aperture stenosisaStatus cribrosum"aDecerebrate rigidity$aSubcutaneous spheroids*aAbnormal vascular morphology+aAbnormal capillary morphology!aCapillary fragility+aAbnormal capillary physiologyaArterial rupture6a(Elevated prostate-specific antigen level5a'Abnormal erythrocyte sedimentation rate6a(Decreased erythrocyte sedimentation rateaRectal atresiaa Megarectum%aRectovestibular fistula,aH-type rectovestibular fistulaa Osteoma cutis8a*Abnormal enteric nervous system morphology0a"Abnormal enteric neuron morphology+aEnteric neuronal degeneration1a#Abnormality of the digestive system8a*Abnormality of digestive system physiology2a$Abnormal digestive system morphology>a0Abnormal morphology of erythroid progenitor cell1a#Abnormal proerythroblast morphology"aHypothalamic gliosis%aIntratesticular abscess!aBasal ganglia edemaaThalamic edema$aThalamic calcification3a%Abnormality of mesenteric lymph nodes,aEnlarged mesenteric lymph nodea Lung abscess1a#Abnormal brain lactate level by MRS0a"Reduced brain lactate level by MRS1a#Abnormal brain choline level by MRS0a"Reduced brain choline level by MRS2a$Abnormal brain creatine level by MRS2a$Elevated brain creatine level by MRS1a#Reduced brain creatine level by MRS<a.Abnormal brain N-acetyl aspartate level by MRS<a.Elevated brain N-acetyl aspartate level by MRS0a"Abnormal olfactory lobe morphology"aHypothalamic atrophyaSplenic abscess(aMultifocal splenic abscess&aUnifocal splenic abscessa GeophagiaaScaphoid abdomen!aThalamic hemorrhage.a Abnormal mean corpuscular volume/a!Decreased mean corpuscular volume#aIncomitant strabismus$aConcomitant strabismusaAbnormal U waveaU wave inversionaProminent U wave/a!Exercise-induced U wave inversion"aAbnormal QRS complex#aIncreased QRS voltage"aAbnormal QRS voltage#aDecreased QRS voltage"aElectrical alternans aPancreatic abscess+aOrthokeratotic hyperkeratosisa Darier's sign9a+Abnormal cutaneous elastic fiber morphology/a!Elevated dermal desmosine contenta FolliculitisaBloody diarrhea$aBloody mucoid diarrhea4a&Delayed recoil upon stretching of skinb OnychomadesisbFeculent vomiting9b+Abnormal large intestinal mucosa morphology"bEpidermal acanthosis#bPeripapillary exudate$bDisciform macular scarbSneeze!bParoxysmal sneezingb Eyelid myoclonus,b Dysgenesis of the hypothalamus(b Dysgenesis of the thalamus-b Abnormal hippocampus morphology+b Dysgenesis of the hippocampus-bDysgenesis of the basal ganglia bUmbilicated nodule$bCapillary malformationbNevus anemicusb Nevus roseus7b)Cutis marmorata telangiectatica congenita!bAngioma serpentinum4b&Reduced red cell pyruvate kinase level$bPlacoid macular lesion"bAuditory sensitivityb MisophoniabHypergranulosisbCivatte bodiesbFetal distress#bRete ridge flatteningbLip discoloration&bViolet lip discoloration8b!*obsolete Simple partial occipital seizures+!b"Sawtooth acanthosis-b#White streaks/specks on enamel.b$ Fragile teeth-b%White lesion of the oral mucosa$b&Oral hairy leukoplakiab'Actinic keratosis3b(%Reduced intraabdominal adipose tissue9b)+Abnormal small intestinal mucosa morphology=b*/Decreased small intestinal mucosa lactase levelb+Finger swelling1b,#Abnormal circulating estrogen level&b-Abnormal serum estradiol'b.Increased serum estradiol$b/Abnormal serum estriol%b0Increased serum estriol%b1Decreased serum estriol$b2Abnormal serum estrone%b3Increased serum estrone%b4Decreased serum estrone$b5Gingival calcification$b6Constitutional symptomb7Chillsb8 Shiveringb9Rigors!b:Foveal degeneration)b;Beaten bronze macular sheenb< Dark choroid)b=Atrophic muscularis propriab>Hypoganglionosis!b?Ganglioneuromatosis*b@Poor visual behavior for agebA Transient,bBPortosystemic collateral veins<bC.Abnormality of hepatobiliary system physiology1bD#Dependency on intravenous nutrition-bEIncreased urinary sedoheptulose1bF#Hyperautofluorescent retinal lesion0bG"Hypoautofluorescent retinal lesion&bHAbnormal temper tantrums&bIFrequent temper tantrums$bJSevere temper tantrums.bK Abnormal optic chiasm morphology>bL0Increased number of elastic fibers in the dermis6bM(Clumping of elastic fibers in the dermis4bN&Thickened elastic fibers in the dermis5bO'Fragmented elastic fibers in the dermis4bP&Left ventricular diastolic dysfunction3bQ%Left ventricular systolic dysfunctionJbRb0Leakage of dye on fundus fluorescein angiography*bCopper accumulation in liverbVenous occlusion*bAbnormal arterial physiology bArterial occlusion#bSparse medial eyebrow(bRetinal arterial occlusion3b%Decreased renal parenchymal thickness#bAntepartum hemorrhageBb4Anti-glutamic acid decarboxylase antibody positivitybDowngaze palsyb Upgaze palsy/b!Abnormality of foot cortical bone-bCortical thinning of foot bones"bTriggered by emotion&bDelayed ability to stand$bDelayed ability to sitbRed eye$bCircumlimbal hyperemia.b Superficial episcleral hyperemia'bDeep episcleral hyperemia*bCorneal keratic precipitates.b Central retinal artery occlusion!bLupus anticoagulant0c"Interlobular bile duct destructionCc5Abnormality of circulating beta-2-microglobulin level>c0Increased circulating beta-2-microglobulin level>c0Decreased circulating beta-2-microglobulin level0c"Abnormal corneal limbus morphologyc Limbal edema)cGiant conjunctival papillae,cRecurrent interdigital mycosiscTypically de novo<c .Anti-multiple nuclear dots antibody positivity)c Abnormal cellular phenotype-c Retinal arterial macroaneurysms.c obsolete Psychomotor retardationc Erratic myoclonuscUveal ectropion%cPolygonal renal calicesc Polycalycosis3c%Abnormal medullary pyramid morphology0c"Renal medullary pyramid hypoplasia7c)Glomerular endocapillary hypercellularity8c*Glomerular extracapillary hypercellularitycTrichoepithelioma.c Abnormal growth plate morphology!cThick growth plates1c#Abnormal ossification of the sacrum0c"Delayed ossification of the sacrumc Loud snoring(cInterictal EEG abnormality)cDuplicated odontoid process'cOrthotopic os odontoideumc Hyperglutaminuria#c!Triggered by exertion9c#+Anti-thyroid peroxidase antibody positivityAc$3Increased circulating androstenedione concentration0c%"Anti-pituitary antibody positivityc& Hypodipsia#c'Dorsocervical fat pad8c(*Diet-resistant subcutaneous adipose tissueDc)6Diet-resistant subcutaneous adipose tissue below waist"c*Bitemporal hollowing!c+Pill-rolling tremorc,Thyroid noduleTc-FPulmonary interstitial high-resolution computed tomography abnormality1c.#Reticular pattern on pulmonary HRCT"c/Crazy paving pattern/c0!Nodular pattern on pulmonary HRCT7c1)Reticulonodular pattern on pulmonary HRCT.c2 Cystic pattern on pulmonary HRCTHc3:Combined cystic and ground-glass pattern on pulmonary HRCT=c4/Decreased attenuation pattern on pulmonary HRCT:c5,Mosaic attenuation pattern on pulmonary HRCT=c6/Nodular-perilymphatic pattern on pulmonary HRCTNc7@Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT6c8(Nodular-random pattern on pulmonary HRCTc9 Staring gazec:Square-wave jerksc;Stooped posture&c<Abnormal visual fixation)c=Visual fixation instabilityc>Asthenia#c?Rectourethral fistula(c@Abnormal spleen morphology(cAAbnormal spleen physiology"cBSplenogonadal fusion2cE$Fossa navicularis urethral stricture*cFPendulous urethral stricture'cGBulbar urethral stricturecHVaginal stricturecIPatulous urethra%cJRenal cortical necrosis$cKPulmonary pneumatocele)cLDiffuse alveolar hemorrhagecMPneumomediastinumcN Pleural cyst(cOAbnormal larynx morphology(cPAbnormal larynx physiologycQ Laryngospasm*cRAbnormal bronchus morphology*cSAbnormal bronchus physiology#cTobsolete Bronchospasm= cU Abnormal crycVHigh-pitched crycW Staccato crycX AcanthomaCcY5Decreased lecithin cholesterol acyl transferase level/cZ!Reduced circulating CH50 activityGc[9Increased circulating lactate dehydrogenase concentration-c\Elevated serum 11-deoxycortisolc]Macrozoospermiac_ Pharyngitis3c`%Warm reactive autoantibody positivity+caAchilles tendon calcification0cc"Abnormal cardiac atrial physiology%cdReduced amygdala volume2ce$Abnormal papillary muscle morphology[cfMAnomalous insertion of papillary muscle directly into anterior mitral leaflet3cg%Displacement of the papillary muscles<ch.Anterior displacement of the papillary muscles?ci1Apically displaced anterolateral papillary muscle+ckTesticular adrenal rest tumor"clPyoderma gangrenosum cmDelayed adrenarche3cn%Abnormal CSF metabolite concentrationCco5Decreased CSF 5-hydroxyindolacetic acid concentration0cp"Abnormal CSF protein concentration1cq#Decreased CSF protein concentration1cr#Decreased CSF albumin concentration/cs!Increased CSF/serum albumin ratio.ct High myoinositol in brain by MRS&cuAbnormal cell morphology3cv%obsolete Abnormal cellular physiology+ +cwAbnormality of redox activity:cx,Increased reactive oxygen species production6cy(Abnormal circulating beta globulin level&czBeta 2-microglobulinuriac}Anagen effluviumc~Telogen effluvium,cCongenital panfollicular nevus'cRecurrent plantar mycosis#cHyperpigmented papule!cErythematous plaque!cErythematous macule$cTesticular lipomatosis)cPeriarticular calcificationcAtrial standstillc Self-neglect"cLipomyelomeningocele$cCervical hemivertebrae1c#Positive perchlorate discharge test>c0Abnormal circulating thyroglobulin concentration?c1Increased circulating thyroglobulin concentrationcVaginal adenosis cFused labia majora)cAbnormal bladder morphology,cDetrusor sphincter dyssynergia!cBladder duplication!cMyocardial bridgingcVenous stenosisc Microcoria#cPalmoplantar erythemac Coated aorta)cDescending aorta hypoplasia1c#Abnormal coronary artery physiology#cCoronary artery spasm cAceruloplasminemiacClass I obesitycClass II obesitycClass III obesityc OverweightGc9Anomalous coronary artery arising from the opposite sinusXcJAnomalous origin of the circumflex artery from the right sinus of Valsalva.c Coronary artery sandwich anomalyc Yellow papulecGottron's papules&cPiezogenic pedal papulesc Nevus spiluscNevus sebaceus!cSkin-colored papulecScleral rupture#cMorning glory anomalycDelayed thelarche/c!Coronary-pulmonary artery fistula%cHypoplastic hippocampus$cVisual gaze preference)cMultiple biliary hamartomascCalcinosis cutis+cIncreased body fat percentage<c.Elongated chordae tendinae of the mitral valveMc?Abnormal morphology of the chordae tendinae of the mitral valve'cPalmoplantar scaling skin'cScaling skin on fingertip!cPsoriasiform lesion*cSerpiginous cutaneous lesion&cAnnular cutaneous lesion#cHyperpigmented nodule-cXanthomas of the palmar creases"cHarlequin phenomenon$cPositive pathergy testc Peau d'orange"cOcular melanocytosisc Shawl signcV-signc Plantar edemac Palmar edema1c#Abnormal B cell subset distribution1c#Abnormal T cell subset distribution@c2obsolete Decreased activity of complement receptor@c2Abnormal mean corpuscular hemoglobin concentrationAc3Decreased mean corpuscular hemoglobin concentrationAc3Increased mean corpuscular hemoglobin concentration'cEccentric visual fixation8c*Elevated circulating ribitol concentration$cOptic nerve misrouting!cPeriorbital purpura>c0Periorbital ecchymosis with tarsal plate sparingc Yellow nodule(cPeriungual teleangiectasia+cLamellar cataract with riderscCoronary cataract$cAnterior chamber cells-cAnterior chamber cells grade 1+/c!Anterior chamber cells grade 0.5+,cAnterior chamber cells grade 0-cAnterior chamber cells grade 2+-cAnterior chamber cells grade 3+-cAnterior chamber cells grade 4+.c Central serous chorioretinopathy>c0Abnormal morphology of the choroidal vasculature/c!Polypoidal choroidal vasculopathy2c$Choroidal vascular hyperpermeability%cChristmas tree cataractcPunctal stenosisc Mild myopia cMacular hemorrhage4c&Abnormal superior vena cava morphology4c&Abnormal inferior vena cava morphology#cAortic valve prolapse-cAbnormal left atrium morphology.c Abnormal right atrium morphologycFoveal hemorrhage#cSubmacular hemorrhage(cTapetal-like fundal reflexc Hypotropiac Hyperphoriac HypertropiacHyperdeviationc HypodeviationcCyclodeviation4c&Abnormal extraocular muscle physiology9c+Abnormal superior oblique muscle physiology.c Superior oblique muscle weakness1c#Superior oblique muscle restriction0c"Superior oblique muscle overaction1c#Superior oblique muscle underaction9c+Abnormal inferior oblique muscle physiology1c#Inferior oblique muscle restriction.c Inferior oblique muscle weakness0c"Inferior oblique muscle overaction8d*Abnormal inferior rectus muscle physiology-dInferior rectus muscle weakness0d"Inferior rectus muscle restriction8d*Abnormal superior rectus muscle physiology dOrbital schwannoma!dLid lag on downgaze6d(Abnormal medial rectus muscle physiology$dUpper eyelid entropion#dCicatricial ectropion"d Anterior blepharitis#d Posterior blepharitis&d Epicanthus superciliaris!d Corneal astigmatism%d Focal emotional seizuredAbscessdSterile abscess(dAbnormal plasma cell count'dReduced plasma cell count(dElevated plasma cell count>d0Abnormal proportion of CD4+ central memory cellsHd:obsolete Increased proportion of CD4+ central memory cellsCHd:obsolete Decreased proportion of CD4+ central memory cellsC?d1Abnormal proportion of CD4+ effector memory cells@d2Reduced proportion of CD4+ effector memory T cellsAd3Elevated proportion of CD4+ effector memory T cells0d"Increased circulating oleate level7d)Increased circulating octadecanoate level6d(Increased circulating myristoleate levelEd7Anti-myelin-associated glycoprotein antibody positivity'dArgininosuccinic aciduria)dAlpha-aminobutyric aciduriaGd 9Reduced reactive oxygen species production in neutrophils(d!Abnormal ureter morphology(d"Abnormal ureter physiologyd#Ureteral polypd$ Endometritisd% Vasospasm/d&!Elevated urinary N-butyrylglycine*d'Increased urinary zinc level,d(Abnormal urinary mineral level:d),Elevated circulating glycolate concentrationd+ Tarlov cyst2d,$Fixation-off epileptiform discharges&d.Bilateral polymicrogyria2d/$Steroid-sensitive nephrotic syndromeKd0=Steroid-sensitive nephrotic syndrome with infrequent relapsesId1;Steroid-sensitive nephrotic syndrome with frequent relapses2d2$Steroid-dependent nephrotic syndrome?d41Abnormal placental adhesion into the uterine walld5Placenta percretad6Placenta accretad7Placenta increta)d8Prenatal double bubble sign7d9)Abnormal umbilical blood flow measurementMd:?obsolete Abnormal umbilical artery Doppler pattern in pregnancydsAd;3Decreased circulating creatine kinase concentration)d<Chiari type II malformation*d=Chiari type III malformation0d>"Abnormal fetal skeletal morphology3d?%Reduced fetal femur/foot length ratio,d@Moderate to late preterm birth%dAExtremely preterm birth dBVery preterm birth dCFetal neck anomaly&dDAbnormal neck morphology&dEAbnormal neck physiologydFSyntelencephaly(dGFetal pericardial effusiondHFetal skin edemadILoculated ascites!dJMeconium pseudocyst8dK*Premature closure of the ductus arteriosus$dLFetal pleural effusiondMFetal chylothoraxdNFetal hydrothoraxdODiskitisEdP7Compound muscle action potential amplitude facilitation(dQDistal clavicular thinningdR Crouch gait@dS2Abnormal amyloid beta 42 peptide CSF concentrationAdT3Decreased amyloid beta 42 peptide CSF concentrationAdU3Increased amyloid beta 42 peptide CSF concentration@dV2Abnormal amyloid beta 40 peptide CSF concentrationAdW3Increased amyloid beta 40 peptide CSF concentration=dX/Abnormal amyloid beta peptide CSF concentration2dY$Extra-abdominal umbilical vein varix8dZ*Fetal intra-abdominal umbilical vein varix&d[Impaired fasting glucosed\ Atelencephaly$d]Pituitary macroadenoma$d^Pituitary microadenomad_ Mucus plugd` Airway castsda Fibrin castsdb Mucin casts-dcPerisylvian FDG hypermetabolismdd Anhydramnios.de Distended jugular lymphatic sacs#dfType 1 schizencephaly#dgType 2 schizencephaly#dhType 3 schizencephaly5di'Abnormal fetal nasal bone visualization%djAbsent fetal nasal bone$dkHypoplastic nasal bone%dlEarly young adult onset,dmIntermediate young adult onset$dnLate young adult onset.do Convergence-retraction nystagmus3dp%Spontaneous chorioamniotic separationdqNeurite dystrophy,drCerebral cortical microinfarctIds;Abnormal umbilical artery doppler waveform during pregnancydt Fetal anemia8du*Skeletal muscle autophagosome accumulation/dv!Skeletal muscle hyperechogenicity,dwMaternal vascular malperfusion5dx'Limited horizontal extraocular movement3dy%Limited vertical extraocular movementdzCerebral infarct,d{Abnormal fetal skin morphology.d| Caseous vernix-like desquamation=d}/Type 1 congenital pulmonary airway malformation=d~/Type 2 congenital pulmonary airway malformation=d/Type 3 congenital pulmonary airway malformation(dPeriventricular pseudocyst)dFetal vascular malperfusion$dForamen ovale aneurysmwdiAnti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity)dAbnormal social developmentd Streak gonad;d-Elevated urinary 5-hydroxyhexanoic acid level5d'Abnormal third cranial nerve morphology dLong-bone fracture5d'Abnormal subthalamic nucleus morphology,dRing-enhancing cerebral lesiondOptic nerve mass3d%Elevated brain succinate level by MRSdBrainstem lucency-dElevated urine L-xylulose level-dElevated urine biliverdin level5d'Elevated urine dodecanedioic acid level-dAbnormal urine amino acid level.d Diminished urine glutamine leveldTongue spasticity(dRestricted tongue movement5d'Asymmetric blood pressure between limbs4d&Asymmetric blood pressure between legs0d"Reduced anterior scleral thickness1d#Reduced posterior scleral thickness5d'Elevated urinary 2-aminoisobutyric acid4d&Reduced beta-hexosaminidase A activity!dAbnormal nail shape&dAbnormal nail attachment#dAbnormal nail surface$dCharacteristic of massd Mobile lumpd Immobile lumpd Painless massHd:Anti-ganglionic acetylcholine receptor antibody positivity&dPositive urine anion gap)dNasoethmoidal encephaloceledRubber-like lumpdAbnormal affect/d!Abnormal positive emotional state#dInappropriate elation/d!Disordered formal thought process*d2-3 finger osseus syndactylyd Ruminations'dAbnormal lexical patterns dAbnormal semantics(dIdiosyncratic use of wordsdTangential speechdThought insertion"dThought broadcastingd Thought echo)dDisorder of thought content'dAbnormal volitional state.d Abnormally rapid thought processdAbnormal syntax-dDiagnostic behavioral phenotyped Word salad$dAbnormal preoccupation!dIntraosseous lipomad Paraphilia#dRadiographic modifierd Radiolucentd RadiodensedDelusion of guilt(dAbnormal cognitive process-dAbnormal change in sexual drive;u0-EMG: repetitive nerve stimulation abnormalityu1 Lagophthalmos%u2Nocturnal lagophthalmos%u3Paralytic lagophthalmos'u4Cicatricial lagophthalmosu5Capillary leak*u6Single fiber EMG abnormality'u7EMG: positive sharp wavesu8Cervical agenesis$u9Cervical insufficiencyu:Hydrometrocolposu;Imperforate hymen<u<.Abnormal female reproductive system physiology$u=obsolete Endometriosisu'u>Female sexual dysfunctionu?Female anorgasmiau@ DyspareuniauA Vaginismus%uBDecreased female libido%uCIncreased female libidouE Auricular taguFQuestion mark earuGQuelprud noduleuHPretragal ectopiauI Auricular pit/uJ!Squared superior portion of helix1uK#Abnormal nasal cartilage morphology$uLAbsent nasal cartilageuMSplayed fingersuN Absent rayuO Small toe%uPPartial absence of footuQ Small finger6uR(Glomerular basement membrane lamellation&uSStruvite nephrolithiasisuT IsothenuriauU Bifid ureteruV Enchondroma&uWFused thoracic vertebrae$uXFused lumbar vertebraeuYSchmorl's node.uZ Incomplete ossification of pubisu[Hip subluxation*u\Flexion contracture of digitu]Serpentine fibula5u^'Hypoglycosylation of alpha-dystroglycan3u_%Abnormal lateral ventricle morphologyu` Colpocephalyua Brain abscessub Narcolepsyuc Tip-toe gait udInguinal frecklingue Stiff skin%ufPerifollicular fibrosis!ugHyperconvex toenailuhUncombable hair,uiAutoimmune antibody positivity"ujSickled erythrocytes%ukMitochondrial depletion%ulNervous tissue neoplasm&umNeuroectodermal neoplasmunCraniopharyngioma&uoNeuroepithelial neoplasmup Neurocytoma-uqPrimitive neuroectodermal tumorurEpendymoblastoma;us-Peripheral primitive neuroectodermal neoplasm-utOlfactory esthesioneuroblastoma5uu'Primary central nervous system lymphoma5uv'Central primitive neuroectodermal tumor uwMedulloepithelioma&uxParanasal sinus neoplasm*uyobsolete Pharyngeal neoplasmuz Chemodectoma&u{Ductal carcinoma in situ'u|Lobular carcinoma in situ u}Bronchial neoplasm!u~Lung adenocarcinomau Cervix canceruBurkitt lymphoma;u-Punctate periventricular T2 hyperintense foci(uAbnormal drinking behavioru Salt cravingu Clinodactyly0u"Abnormal CSF lactate concentration!uReduced CSF lactate=u/Abnormal circulating testosterone concentration0u"Increased serum testosterone level6u(Abnormal muscle fiber protein expression6u(Abnormal muscle fiber merosin expression)uAbsent muscle fiber merosin*uReduced muscle fiber merosin2u$Abnormal muscle fiber laminin beta 11u#Reduced muscle fiber laminin beta 1(uReduced muscle collagen VI9u+Abnormal muscle fiber dystrophin expression1u#Absent muscle dystrophin expression2u$Reduced muscle dystrophin expression5u'Reduced muscle fiber alpha dystroglycan5u'Abnormal muscle fiber alpha sarcoglycan3u%Absent muscle fiber alpha sarcoglycan4u&Reduced muscle fiber alpha sarcoglycan4u&Abnormal muscle fiber beta sarcoglycan5u'Abnormal muscle fiber gamma sarcoglycan5u'Abnormal muscle fiber delta sarcoglycan2u$Absent muscle fiber beta sarcoglycan3u%Reduced muscle fiber beta sarcoglycan4u&Reduced muscle fiber gamma sarcoglycan3u%Absent muscle fiber gamma sarcoglycan3u%Absent muscle fiber delta sarcoglycan4u&Reduced muscle fiber delta sarcoglycan6u(Abnormal muscle fiber alpha dystroglycan-uAbnormal muscle fiber dysferlin+uAbsent muscle fiber dysferlin,uReduced muscle fiber dysferlin*uAbnormal muscle fiber emerin(uAbsent muscle fiber emerin)uReduced muscle fiber emerin-uAbnormal muscle fiber calpain-3+uAbsent muscle fiber calpain-3,uReduced muscle fiber calpain-3+uReduced muscle fiber perlecan-uAbnormal muscle fiber lamin A/C,uReduced muscle fiber lamin A/C8u*Sacralization of the fifth lumbar vertebra-uAbnormal endometrium morphologyu Endometriosis9u+Impaired ristocetin cofactor assay activityFu8Impaired von Willebrand factor collagen binding activityBu4Abnormal von Willebrand factor multimer distribution>u0Absence of large von Willebrand factor multimersNu@Abnormal presence of ultra-large von Willebrand factor multimers;u-Total absence von Willebrand factor multimersEu7Absence of intermediate von Willebrand factor multimers9u+Enhanced ristocetin cofactor assay activity7u)Prolonged bleeding following circumcision6u(Excessive bleeding from superficial cuts5u'Excessive bleeding after a venipuncture"uOral cavity bleeding3u%Abnormality of the posterior hairline#uAbnormal bowel sounds&uHyperactive bowel sounds%uHypoactive bowel sounds"uLack of bowel sounds2u$Abnormal liver parenchyma morphology uTruncal titubationu Heart murmuruCardiogenic shocku Plasmacytosisu Cholangitis-uobsolete Biliary tract neoplasm uCholangiocarcinoma%uGallbladder perforationu Scrotal pain%uBence Jones Proteinuriau Flank pain uCervical ectropionuCervical polypu CervicitisuVaginal pruritusuGlomerulomegaly*uAbnormal vascular physiologyuJaw claudication(uTemporal artery tortuosityu Night sweats3u%Antimitochondrial antibody positivity1u#Dilated superficial abdominal veinsu Gastric varix*uCystic artery pseudoaneurysm uPerirenal hematoma%uPeripheral amyelination)uPeripheral hypermyelination3u%Increased peripheral myelin thicknessuMyelin tomacula1u#Asymmetric peripheral demyelinationHu:Abnormality of peripheral nervous system electrophysiologyEu7Abnormality of central nervous system electrophysiology<u.Abnormal peripheral action potential amplitudeuOppenheim reflexu Gordon reflex&uTetraplegia/tetraparesis@u2Impaired visually enhanced vestibulo-ocular reflexuIsometric tremoruKinetic tremoru Titubation'uTremor by anatomical site"uOral motor hypotoniaFu8Abnormal peripheral nervous system synaptic transmission2u$Fatigable weakness of bulbar muscles3u%Fatigable weakness of chewing muscles2u$Fatigable weakness of speech muscles6u(Fatigable weakness of swallowing muscles7u)Fatigable weakness of respiratory muscles4u&Fatigable weakness of skeletal muscles7u)Fatigable weakness of distal limb muscles0u"Fatigable weakness of neck muscles:u,Fatiguable weakness of proximal limb musclesDu6Response to drugs acting on neuromuscular transmissionQuCFavorable response of weakness to acetylcholine esterase inhibitorsZuLUnfavorable response of muscle weakness to acetylcholine esterase inhibitors2u$Increased jitter at single fiber EMGku]EMG: incremental response of compound muscle action potential to repetitive nerve stimulation%uParadoxical respirationTvFAnti-neuromuscular Junction acetylcholine receptor antibody positivity1v#Calcium channel antibody positivity;v-Anti-muscle-specific tyrosine kinase antibody+vSlow pupillary light responsev CollectionismvEmotional dearth%vobsolete HypersexualityOY"vInappropriate cryingvInertiav Limb apraxiav Pundingv Semantic dementia-v Socially inappropriate behaviorv Sweet cravingvVisual agnosia#vPerseverative thought*vAbnormal muscle fiber desmin1v#Accumulation of muscle fiber desmin,vAbnormal muscle fiber myotilin3v%Accumulation of muscle fiber myotilin>v0Abnormal muscle fiber valosin-containing proteinEv7Accumulation of muscle fiber valosin-containing protein3v%Central core regions in muscle fibers=v/Glycogen accumulation in muscle fiber lysosomes-vIncreased sarcoplasmic glycogenv Bethlem sign-vHighly elevated creatine kinase0v"Extremely elevated creatine kinase(vAbnormality of muscle size"vHand muscle weakness5v'Hypoplasia of the upper arm musculature*v!Hypoplasia of deltoid muscle$v"Portal vein thrombosis%v#Hepatic vein thrombosis)v$Maternal fever in pregnancyv%Intrapartum fever,v&Maternal first trimester fever(v'Splanchnic vein thrombosis*v(Mesenteric venous thrombosisv) Enanthema&v*Pulmonary granulomatosis'v+Absence of memory B cells(v,Absent circulating B cells,v-Defective T cell proliferation!v.Nail bed hemorrhage(v/Large intestinal polyposis(v0Small intestinal polyposis v1Freckled genitalia&v2Hyperpigmented genitalia%v3Hypopigmented genitaliav4 Microphallusv5 Absent penisv6 Narrow penis"v7Torsion of the penisv8 Webbed penisv9 Wide penis:v:,obsolete Abnormality of the sacroiliac notch(Fv;8Calcification of the interosseus membrane of the forearm+v<Hyperplastic callus formationNv=@Increased circulating insulin-like growth factor 1 concentration<v>.Elevated red cell adenosine deaminase activityFv?8Reduced erythrocyte 2,3-diphosphoglycerate concentrationCv@5Abnormal erythrocyte enzyme concentration or activity8vA*Reduced red cell adenosine deaminase levelvBAccessory scrotumvCEctopic scrotum$vDobsolete Small scrotum.3vE%Abnormal vertebral pedicle morphology+vFHypoplastic vertebral pedicle.vG Hypoplastic L5 vertebral pediclevHRib gap-vICervical C3/C4 vertebral fusionvJPosterior rib gap6vK(Partial absence of the septum pellucidumvLTriangular tongue2vM$Splayed superior cerebellar peduncle3vN%Atrophic superior cerebellar peduncle)vQFlattened femoral epiphysisvRUnossified sacrum1vS#Lower-limb metaphyseal irregularity-vTTibial metaphyseal irregularity.vU Fibular metaphyseal irregularity1vV#Metaphyseal chondromatosis of tibia1vW#Metaphyseal chondromatosis of femur2vX$Metaphyseal chondromatosis of radius0vY"Metaphyseal chondromatosis of ulna3vZ%Metaphyseal chondromatosis of humerus;v[-Abnormal distal femoral metaphysis morphologyv\10 pairs of ribs4v]&Abnormality of the anterior commissure1v^#Agenesis of the anterior commissure-v_Hypoplastic anterior commissure*v`Abnormal number of vertebrae+vaDecreased number of vertebrae#vb11 thoracic vertebrae*vcFlared lower limb metaphysis-vdFlared distal tibial metaphysis.ve Flared distal fibular metaphysis/vf!Upper extremity joint dislocation/vg!Lower extremity joint dislocation2vh$Obliteration of the calvarial diploe,viAbnormal periosteum morphologyvj PeriostosisvnAngular cheilitis,voWeakness of facial musculature,vpIncreased intervertebral space2vq$Abnormal vertebral artery morphology)vrVertebral artery hypoplasia4vs&Unilateral vertebral artery hypoplasia3vt%Bilateral vertebral artery hypoplasia&vuCervicomedullary schisis'vvAbnormal macrophage count'vwAbnormal osteoclast count(vxDecreased osteoclast countvyRetinal thinningGvz9Multinucleated giant chondrocytes in epiphyseal cartilage6v{(Impaired stimulus-induced skin wrinkling1v|#obsolete Abnormal T cell morphology 3v}%Abnormal alpha-beta T cell morphology[v~MAbnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphologyVvHAbnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell countGv9Absence of CD4-positive, CD25-positive regulatory T cellsJvv0Decreased circulating gonadotropin concentration?v1obsolete Increased circulating gonadotropin levelENv@Decreased circulating follicle stimulating hormone concentration=v/Decreased circulating luteinizing hormone levelDv6Abnormal circulating luteinizing hormone concentrationMv?Abnormal circulating follicle-stimulating hormone concentration1v#Abnormal circulating androgen level:v,Increased circulating androgen concentration:v,Decreased circulating androgen concentration!vErythematous papulevUrticarial plaque?v1Abnormal serum insulin-like growth factor 1 level:v,Decreased serum insulin-like growth factor 1Dv6obsolete Abnormal circulating interferon concentration+lAv3Abnormal circulating interferon-gamma concentrationBv4Increased circulating interferon-gamma concentration'vSmall cell lung carcinoma+vNon-small cell lung carcinoma*vSquamous cell lung carcinoma'vLarge cell lung carcinoma;v-Abnormal circulating eicosanoid concentration,vReduced muscle carnitine level'vPrimary Caesarian section)vSecondary Caesarian section+vVaginal birth after Caesarian%vDelivery by Odon device"vFinger hyperphalangy-vHyperphalangy of the 2nd finger&vInduced vaginal delivery2v$Abnormal proportion of naive B cells3v%Increased proportion of naive B cells3v%Decreased proportion of naive B cells3v%Abnormal proportion of memory B cells4v&Decreased proportion of memory B cells4v&Increased proportion of memory B cells5v'Abnormal proportion of immature B cells6v(Increased proportion of immature B cells6v(Decreased proportion of immature B cells9v+Abnormal proportion of transitional B cells:v,Decreased proportion of transitional B cells:v,Increased proportion of transitional B cells:v,Abnormal proportion of marginal zone B cells;v-Decreased proportion of marginal zone B cells;v-Increased proportion of marginal zone B cellsBv4Abnormal proportion of class-switched memory B cellsCv5Increased proportion of class-switched memory B cellsCv5Decreased proportion of class-switched memory B cells<v.Abnormal circulating thromboxane concentration>v0Reduced circulating leukotriene C4 concentration-vSpoken word recognition deficit&vChoroid plexus carcinoma%vEndolymphatic sac tumor&vFallopian tube carcinoma1v#Abnormal platelet granule secretion7v)Abnormal platelet dense granule secretion;v-Abnormal platelet ATP dense granule secretion7v)Abnormal platelet alpha granule secretion2v$Abnormal platelet lysosome secretion;v-Abnormal platelet dense granule ATP/ADP ratio+vAbnormal platelet aggregation.v Spontaneous platelet aggregationv Glucagonoma(vPancreatic endocrine tumor*vPrimary peritoneal carcinomav Pineocytomav Pineoblastoma/v!Renal transitional cell carcinoma'vSebaceous gland carcinoma$vJejunal adenocarcinoma"vIleal adenocarcinoma3v%Squamous cell carcinoma of the tongue4v&Verrucous cell carcinoma of the tongue1v#Sarcomatoid carcinoma of the tonguevVulvar neoplasm2v$Squamous cell carcinoma of the vulvavVulvar melanoma'vBartholin gland carcinoma#vVulvar adenocarcinoma!vEpididymal neoplasm>v0obsolete Papillary cystadenoma of the epididymis%v Splenic cystvEpididymal cyst$vCalcified ovarian cystvOssifying fibroma*vOssifying fibroma of the jawvCutaneous myxoma2v$Juvenile nasopharyngeal angiofibromavNeuromavOsteochondromavChondroblastomavOsteoid osteomav PilomatrixomavFibrofolliculoma!vAnal canal neoplasm0v"Anal canal squamous cell carcinoma'vAnal canal adenocarcinoma"vAnal margin neoplasm)vAnal margin Paget's disease1v#Anal margin squamous cell carcinoma.v Anal margin basal cell carcinoma"vAnal margin melanoma'vPulmonary carcinoid tumor0v"Atypical pulmonary carcinoid tumor%vMerkel cell skin cancer!vSoft tissue sarcoma"vTherapeutic abortion6v(Neoplasm of the autonomic nervous systemvMesenteric cyst,vChylolymphatic mesenteric cyst/v!Abnormal visual electrophysiology'vAbnormal electrooculogram=v/Abnormality of pattern visual evoked potentialsJvw 0Abnormal light-adapted flicker electroretinogram9w +Undetectable dark-adapted electroretinogramIw ;Abnormal timing of dark-adapted dim flash electroretinogramLw >Abnormal amplitude of dark-adapted dim flash electroretinogramLw >Abnormal timing of dark-adapted bright flash electroretinogramOwAAbnormal amplitude of dark-adapted bright flash electroretinogramKw=Abnormal amplitude of light-adapted flicker electroretinogramHw:Abnormal timing of light-adapted flicker electroretinogramPwBAbnormal amplitude of light-adapted single flash electroretinogramMw?Abnormal timing of light-adapted single flash electroretinogramUwGReduced amplitude of dark-adapted bright flash electroretinogram a-waveLw>Supernormal dark-adapted bright flash electroretinogram b-wave=w/Abnormal amplitude of pattern electroretinogram:w,Abnormal timing of pattern electroretinogramAw3Abnormal P50/N95 ratio of pattern electroretinogramGw9Abnormal central response of multifocal electroretinogramKw=Abnormal paracentral response of multifocal electroretinogram)wExudative vitreoretinopathy&wChoriocapillaris atrophy0w"Abnormality of foveal pigmentation.w Macular microaneurysm/hemorrhage?w1Abnormality morphology of the macular vasculaturew Macular exudate&w!Macular cotton wool spot w"Macular thickeningw#Macular drusen0w$"Yellow/white lesions of the maculaw%Macular crystalsw& Retinoschisis$w'Macular telangiectasiaJw(w=0Moderate constriction of peripheral visual field<w>.Severe constriction of peripheral visual fieldAw?3Very severe constriction of peripheral visual field!w@Paracentral scotomawA Ring scotomawBArcuate scotoma-wCAltitudinal visual field defect,wDVisual acuity test abnormality1wE#Abnormal unaided visual acuity test8wF*Abnormal best corrected visual acuity test1wG#Abnormal pinhole visual acuity test.wH Unaided visual acuity 0.1 LogMAR.wI Unaided visual acuity 0.2 LogMAR.wJ Unaided visual acuity 0.3 LogMAR.wK Unaided visual acuity 0.4 LogMAR.wL Unaided visual acuity 0.5 LogMAR.wM Unaided visual acuity 0.6 LogMAR.wN Unaided visual acuity 0.7 LogMAR.wO Unaided visual acuity 0.8 LogMAR.wP Unaided visual acuity 0.9 LogMAR.wQ Unaided visual acuity 1.0 LogMAR.wR Unaided visual acuity 1.1 LogMAR.wS Unaided visual acuity 1.2 LogMAR.wT Unaided visual acuity 1.3 LogMAR.wU Unaided visual acuity 2.0 LogMAR.wV Unaided visual acuity 3.0 LogMAR<wW.Visual acuity light perception with projection?wX1Visual acuity light perception without projection/wY!Visual acuity no light perception5wZ'Best corrected visual acuity 0.1 LogMAR5w['Best corrected visual acuity 0.2 LogMAR5w\'Best corrected visual acuity 0.3 LogMAR5w]'Best corrected visual acuity 0.4 LogMAR5w^'Best corrected visual acuity 0.5 LogMAR5w_'Best corrected visual acuity 0.7 LogMAR5w`'Best corrected visual acuity 0.6 LogMAR5wa'Best corrected visual acuity 0.8 LogMAR5wb'Best corrected visual acuity 0.9 LogMAR5wc'Best corrected visual acuity 1.0 LogMAR5wd'Best corrected visual acuity 1.1 LogMAR5we'Best corrected visual acuity 1.2 LogMAR5wf'Best corrected visual acuity 1.3 LogMAR5wg'Best corrected visual acuity 2.0 LogMAR5wh'Best corrected visual acuity 3.0 LogMAR.wi Pinhole visual acuity 0.1 LogMAR.wj Pinhole visual acuity 0.2 LogMAR.wk Pinhole visual acuity 0.3 LogMAR.wl Pinhole visual acuity 0.4 LogMAR.wm Pinhole visual acuity 0.5 LogMAR.wn Pinhole visual acuity 0.6 LogMAR.wo Pinhole visual acuity 0.7 LogMAR.wp Pinhole visual acuity 0.8 LogMAR.wq Pinhole visual acuity 0.9 LogMAR.wr Pinhole visual acuity 1.0 LogMAR.ws Pinhole visual acuity 1.1 LogMAR.wt Pinhole visual acuity 1.2 LogMAR.wu Pinhole visual acuity 1.3 LogMAR.wv Pinhole visual acuity 2.0 LogMAR.ww Pinhole visual acuity 3.0 LogMAR+wxColor vision test abnormalitywyRed desaturation*wzAbnormal Ishihara plate test4w{&Abnormal Hardy-Rand-Rittler plate test(w|Abnormal visual field test8w}*Abnormal confrontational visual field test'w~Abnormal Amsler grid test-wAbnormal kinetic perimetry test,wAbnormal static perimetry test4w&Abnormal manual kinetic perimetry test7w)Abnormal automated kinetic perimetry test6w(Abnormal static automated perimetry test8w*Abnormal Humphrey SITA 30-2 perimetry test8w*Abnormal Humphrey SITA 24-2 perimetry test8w*Abnormal Humphrey SITA 10-2 perimetry test3w%Abnormal Esterman grid perimetry test0w"Abnormal posterior segment imaging6w(Abnormal fundus autofluorescence imaging3w%Abnormal optical coherence tomography5w'Abnormal fundus fluorescein angiography4w&Abnormal indocyanine green angiography5w'Abnormal OCT-measured macular thickness4w&Reduced OCT-measured macular thickness6w(Increased OCT-measured macular thickness5w'Photoreceptor layer loss on macular OCT=w/Photoreceptor outer segment loss on macular OCT<w.Retinal pigment epithelial loss on macular OCT8w*Abnormal retinal morphology on macular OCT7w)Abnormal foveal morphology on macular OCT<w.Foveal photoreceptor layer loss on macular OCTDw6Foveal photoreceptor outer segment loss on macular OCTCw5Foveal retinal pigment epithelial loss on macular OCT4w&Abnormal OCT-measured foveal thickness5w'Increased OCT-measured foveal thickness3w%Reduced OCT-measured foveal thickness5w'Inner retinal layer loss on macular OCT<w.Foveal inner retinal layer loss on macular OCT0w"Abnormal foveal pit on macular OCT?w1Intraretinal hyporeflective spaces on macular OCT=w/Subretinal hyporeflective spaces on macular OCT2w$Hyporeflective spaces on macular OCTFw8Foveal intraretinal hyporeflective spaces on macular OCT9w+Foveal hyporeflective spaces on macular OCTDw6Foveal subretinal hyporeflective spaces on macular OCT6w(Perifoveal ring of hyperautofluorescence8w*Irregular central macular autofluorescence1w#Hyperautofluorescent macular lesion0w"Hypoautofluorescent macular lesion\wNPerifoveal ring of hyperautofluorescence surrounded by normal autofluorescence^wPPerifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence>w0Retinal dystrophy with early macular involvement&wOccult macular dystrophy4w&Congenital stationary cone dysfunctionFw8Congenital stationary night blindness with normal fundusHw:Congenital stationary night blindness with abnormal fundus<w.Complete congenital stationary night blindness>w0Incomplete congenital stationary night blindness"wFundus albipunctatus.w Vitelliform-like retinal lesions$wBlind-spot enlargementwCentralw Peripheralw Paracentralw Midperipheralw PericentralwFocalw Multifocalw Vitreous haze!wUmbilical cord cyst!wUmbilical cord knot"wUmbilical vein varix%wUmbilical cord hematoma/w!Marginal umbilical cord insertion(wVelamentous cord insertion$wFurcate cord insertion wVitreous snowballs)wVitreous inflammatory cells&wOptically empty vitreousw Beevor's signw Rubral tremor(wRetinal neovascularization3w%Peripheral retinal neovascularization&wPeriorbital dermoid cyst/w!Abnormal ocular adnexa morphology-wHamartoma of the orbital region7w)Abnormal common tendinous ring morphologywAsteroid hyalosis'wErosive vitreoretinopathywAntenatal onsetOwAContracture of proximal interphalangeal joints of 2nd-5th fingersw Satyr earw Mozart earw Ash-leaf spot7w)Abnormal cardiovascular system morphology:w,Abnormal morphology of myocardial trabeculae,wLeft ventricular noncompactionw Vaginitis(wAbnormal adiponectin level)wDecreased adiponectin level)wIncreased adiponectin level%wAbnormal glucagon level&wIncreased glucagon level&wDecreased glucagon levelwGingival cleft"wDivergence nystagmuswBrain neoplasm%wSupratentorial neoplasm.w Pineal parenchymal cell neoplasmwRanula&wUnilateral lung agenesisw MyeloschisiswMyelocystocelewLipomeningocelew HydrocolposwUterine synechiae3w%Vein of Galen aneurysmal malformation*wSubchorionic thrombohematomawBronchial atresiawAcrania"wMeconium peritonitis&wRight atrial enlargement'wUnguarded tricuspid valve&xSubchorionic septal cystxTetraphocomeliax Ectopic liver&xCongenital megalourethra)xCentral nervous system cystxNeurenteric cyst%xSpinal neurenteric cyst+xIntracranial neurenteric cystx Meromelia)x Frontoethmoidal meningocele"x Parietal meningocelex Carcinoma(x Dysplastic tricuspid valve3x %Vesicoallantoic abdominal wall defect1x#Ureterovesical junction obstruction%xSacrococcygeal teratoma3x%Altman type I sacrococcygeal teratoma4x&Altman type II sacrococcygeal teratoma5x'Altman type III sacrococcygeal teratoma<x.Anomalous muscle bundle of the right ventricle"xMediastinal teratoma.x Glial remnants posterior to lens7x)Glial remnants anterior to the optic disc;x-Hyaloid vascular remnant and retrolental mass1x#Dilatation of the ductus arteriosus)xIntraventricular hemorrhage1x#Preterm intraventricular hemorrhage9x+Grade I preterm intraventricular hemorrhage:x,Grade II preterm intraventricular hemorrhage;x-Grade III preterm intraventricular hemorrhage:x,Grade IV preterm intraventricular hemorrhagex DacryocystoceleFx!8Intrauterine fetal demise of one twin after midgestationx"Allantoic cyst#x#Craniofacial teratomax$ Erythrodontiax% Tooth abscess&x&Periapical tooth abscess#x'Adipocyte hypertrophyx(Renal fibrosis0x)"obsolete Renal glomerular fibrosis`x* Mesangiolysisx+Amniotic Sheetx, Ochronosisx- Sleep terrorx.Ear painx/ Epignathusx1 Exencephaly x2Craniorachischisisx3 Mallet finger/x4!Proximal femoral focal deficiency*x5Internuclear ophthalmoplegia$x6Mitochondrial swelling3x7%Modic type vertebral endplate changes5x8'Modic type I vertebral endplate changes6x9(Modic type II vertebral endplate changes7x:)Modic type III vertebral endplate changesx; Ethmocephaly@x<2Abnormality of the protein C anticoagulant pathway9x=+Increased circulating free fatty acid levelEx>7obsolete Abnormal circulating interleukin concentration+m?x?1Increased circulating interleukin 6 concentrationx@Anomic aphasia-xAMediastinal cystic lymphangiomaxB Photopsia!xCCerumen abnormalityxDImpacted cerumenxEExcessive cerumen$xFAbnormal cerumen color%xGAbnormal jaw morphologyxH Jaw neoplasmxI Jaw swelling:xJ,Abnormal circulating C-peptide concentration%xKReduced C-peptide level'xLIncreased C-peptide levelVxMHReduced volume of central subdivision of bed nucleus of stria terminalis@xN2Abnormality of the bed nucleus of stria terminalisxO Scaphocephaly+xPAbnormal visual accommodation*xQReduced visual accommodation%xRLower eyelid retractionxS PlatonychiaxT TrachyonychiaxU Absent lunula xVFast-growing nails"xWAbnormal nail growthxXRagged cuticle(xYAbnormal tongue morphology(xZAbnormal tongue physiologyx[ Tongue painx\Enlarged tonsilsx]Absent tonsils'x^Orange discolored tonsils"x_Lipoma of the tongue x`Gingival recessionxa Beaked nails xbCentral nail canalxc Ski jump nailxd Hooded eyelid!xeHooded lower eyelid!xfHooded upper eyelid xgScleral thickeningxhMizuo phenomenon"xiAbsent foveal reflex"xjEyelid fasciculationxlWheezing#xmAbnormal breath soundxnCracklesxoRhonchixpVitreous strandsxq Neck painxr Shoulder painxs Elbow painxt Wrist painxu Finger painxvHip painxw Knee painxx Ankle painxyToe painxzChoking episodes!x{Cardiac amyloidosis4x|&Undetectable pattern electroretinogram'x}Heliotrope rash of eyelid.x~ Abnormality of venous physiology.x Abnormal jugular venous pressure.x Elevated jugular venous pressure"xHepatojugular reflux%xAbnormal pulse pressure xLow pulse pressure!xHigh pulse pressurex Heterotaxy xScleral staphyloma!xAnterior staphyloma"xPosterior staphyloma'xEye movement-induced pain xAddictive behavior6x(Anti-topoisomerase I antibody positivity0x"Abnormal CSF amyloid concentration1x#Decreased CSF amyloid concentration0x"Elevated CSF amyloid concentrationx Nasal flaring%xIntercostal retractionsx Large elbowx Large knee'xVertical orbital dystopiax Monorchismx Anorchism/x!Abnormality of spinal facet joint#xFacet joint arthrosis3x%Abnormal cardiac ventricular function1x#Anti-centromere antibody positivity-xOxygen desaturation on exertion2x$Abnormality of pulmonary circulation:x,Increased pulmonary capillary wedge pressure$xReduced FEV1/FVC ratio7x)Abnormality on pulmonary function testing,xInterlobular septal thickening xRaynaud phenomenon"xShoulder impingement&xCoronary artery aneurysm*xFemoroacetabular impingement3x%Gastrojejunal tube feeding in infancy,xRecurrent parasitic infections+xAbnormal lymphocyte apoptosis,xIncreased lymphocyte apoptosis,xC3 nephritic factor positivity2x$Congenital shortened small intestine<x.Hyperintensity of cerebral white matter on MRI;x-Periventricular white matter hyperintensities9x+Deep cerebral white matter hyperintensitiesEx7Abnormal response to short acting pulmonary vasodilatorIx;Insufficient response to short acting pulmonary vasodilator0x"Abnormal gastrointestinal motility4x&Abnormal gastrointestinal transit time/x!Decreased intestinal transit time!xPruritis on abdomenxPruritis on handxPruritus on foot xPruritis on breast xPalmomental reflexx Grasp reflexxGlabellar reflexx Snout reflexx Suck reflex"xThunderclap headache?x1Liver kidney microsome type 1 antibody positivityEx7Anti-liver cytosolic antigen type 1 antibody positivityxBifid clitoris!xDuplicated clitoris6x(Exaggerated rugosity of the labia majora"xAbnormal peristalsisxCerebellar edemaxLow APGAR score&xLow 1-minute APGAR score&xLow 5-minute APGAR score'x5-minute APGAR score of 0'x5-minute APGAR score of 1'x5-minute APGAR score of 2'x5-minute APGAR score of 3'x5-minute APGAR score of 4'x5-minute APGAR score of 5'x5-minute APGAR score of 6'x1-minute APGAR score of 0'x1-minute APGAR score of 1'x1-minute APGAR score of 2'x1-minute APGAR score of 3'x1-minute APGAR score of 4'x1-minute APGAR score of 5'x1-minute APGAR score of 6 xOral erythroplakia:x,Abnormal intestinal smooth muscle morphology5x'Abnormal layering of muscularis propria)xFibrotic muscularis propria<x.Enteric intraneuronal nuclear inclusion bodies"xPalpebral thickeningx Vulvodynia#xConjunctival papillae$xConjunctival follicles6x(Elevated gamma-glutamyltransferase level!xGlomerular deposits+xPulmonary venous hypertension&xSkeletal muscle fibrosis*xBirdshot retinochoroidopathy$xConjunctival hyperemia#xAddictive alcohol useDx6Abnormality of cardiovascular system electrophysiology)xVentricular septal aneurysm4x&Membranous ventricular septal aneurysm2x$Muscular ventricular septal aneurysm4x&obsolete Abnormal pupillary morphologygxMicrospherophakia6x(Abnormal morphology of the great vessels1x#obsolete Abnormal aortic morphology(xAbnormal aortic physiologyxAortic stiffness2x$Abnormal pulmonary artery morphology2x$Abnormal pulmonary artery physiology0x"Abnormal pulmonary vein morphology0x"Abnormal pulmonary vein physiology+xAbnormal vena cava physiology4x&obsolete Abnormal vena cava morphology.x Abnormal systemic blood pressure1x#Postexertional symptom exacerbationxCryptozoospermia#xPontine tegmental cap+yAbnormal factor VIII activity,yIncreased factor VIII activity/y!Decreased CSF/serum albumin ratio3y%Dilatation of large choroidal vessels2y$Reduced brain glutamine level by MRS.y Abnormal CSF/serum albumin ratioyOvarian thecoma4y&Abnormal serum bile acid concentration5y 'Decreased serum bile acid concentration,y Biliary epithelial hyperplasia%y Suppurative cholangitis'y Granulomatous cholangitis"y Lymphoid cholangitis%yPleomorphic cholangitis$ySclerosing cholangitis1y#Abnormal pancreatic duct morphology,yDuplication of pancreatic ductyPancreas divisum!yPeritoneal effusiony Megaduodenum"yAtretic vas deferens-yCerebrospinal fluid rhinorrhoea4y&Abnormal vestibular saccule morphology.y Vestibular saccular degeneration$yMinifascicle formationyNeuritisy Polyneuritisy Hemiareflexia#yobsolete Hyperalgesia0yAcroparesthesiaBy4Orofacial action-specific dystonia induced by speechy Lingual dystoniay!Ainhum-y"Hyperphalangy of the 3rd fingery# Fatty streak$y$Thin-cap fibroatheromay% Ankylosisy&Arteria lusoria0y'"Intrahepatic portal vein sclerosisFy(8Alternating radiolucent and radiodense metaphyseal lines/y)!Swiss cheese atrial septal defect)y*Eccrine syringofibroadenoma.y+ Pyknotic bone marrow neutrophils*y,Bone marrow hypercellularity y-Squamous Papilloma.y. Oropharyngeal squamous papilloma'y/Multiple mucosal neuromasy0 Cylindroma$y1Gastric leiomyosarcomay2Snail-like ilia0y3"Internal notch of the femoral heady4Lactescent serumIy5;Elevated circulating carcinoembryonic antigen concentration2y6$Elevated carcinoma antigen 125 level4y7&Abnormal retinol-binding protein level5y8'Decreased retinol-binding protein level,y9Impaired urinary acidification[y:MAbnormal insulin like growth factor binding protein acid labile subunit levely;Chronic infection:y<,Reduced growth-hormone binding protein level1y=#Reduced insulin-like factor 3 level/y>!Spermatogenesis maturation arrest,y?Spermatocyte maturation arrest$y@Round spermatid arrest3yA%Obstruction of the superior vena cavayBStrawberry tongue#yCType A4 brachydactyly#yDType A5 brachydactylyyEAcral blistering yFAbsent soft palateyGParaproteinemia)yHLight-chain paraproteinemia)yIHeavy-chain paraproteinemia2yJ$Whole-immunoglobulin paraproteinemiayKTarsal sclerosis?yL1Elevated vascular endothelial growth factor level7yM)Coarctation in the transverse aortic arch3yN%Long segment coarctation of the aorta<yO.Abnormal branching pattern of left aortic arch(yPFusiform cerebral aneurysmyQ Skin fissure6yR(Impairment of activities of daily living/yS!Impaired ability to bathe oneself/yT!Impaired ability to dress oneself(yUImpaired toileting ability+yVImpaired transferring ability&yWImpaired feeding ability!yXImpaired continence)yYAbnormal ovarian morphology)yZAbnormal ovarian physiology$y[Empty ovarian follicle0y\"obsolete Increased femoral torsion0&y]Abnormal femoral torsion+y^obsolete Femoral retroversion+y_Abnormal endocrine morphology+y`Abnormal endocrine physiology=ya/Abnormal response to endocrine stimulation test8yb*Abnormal response to ACTH stimulation test9yc+Abnormal response to insulin tolerance testDyd6Impaired cortisol response to insulin stimulation testSyeEAbnormal response to corticotropin releasing hormone stimulation test\yfNImpaired cortisol response to corticotropin releasing hormone stimulation testJygImpaired collagen-related peptide-induced platelet aggregationMy?Impaired phorbol myristate acetate-induced platelet aggregationEy7Impaired calcium ionophore-induced platelet aggregation;y-Abnormal platelet phosphatidylserine exposureGy9Impaired annexin V binding to platelet phosphatidylserineHy:Increased annexin V binding to platelet phosphatidylserine$yCor triatrium sinister*yTriggered by physical trauma-yDecreased acrosin in sperm head$yStorage in hepatocytesKy=Abnormal circulating B-type natriuretic peptide concentrationyFrog-leg posture'yAbnormal liver sonography,yIncreased hepatic echogenicity+yAbnormal hepatic echogenicity,yDecreased hepatic echogenicity+yCoarsened hepatic echotexture9y+Starry sky appearance on hepatic sonography+yImpaired oral bolus formation$yVitreomacular adhesion$yVitreomacular traction)yFull-thickness macular hole,yMembranous vitreous appearance(yBeaded vitreous appearance7y)Increased Arden ratio of electrooculogram0y"Decreased platelet glycoprotein Ib'yCarotid cavernous fistula#yWidened atrophic scar+yThinning of Descemet membraney Myelokathexis2y$Reduced brain glutamate level by MRS5y'Impaired oropharyngeal swallow response&yLow femoral bone density!yGrowth arrest lines!yMultifocal seizuresyEyelid myokymia;y-Triggered by ingestion of potassium-rich food yPostterm pregnancy'yFemale fetal virilizationy Femoral spur+ySectoral retinitis pigmentosay Tibial spur$yDouble-layered patella&yAbsent cervical vertebra&yAbsent thoracic vertebra$yFinger flexor weakness%yFixed head retroflexionyNuchal rigidityyErythema migrans+yNecrolytic migratory erythema;y-Increased circulating NT-proBNP concentration<y.Abnormal circulating deoxycorticosterone level=y/Abnormal circulating pregnenolone concentrationy Genital edemay Wrist dropEy7Superficial dermal perivascular inflammatory infiltrate>y0Deep dermal perivascular inflammatory infiltrate@y2Abnormal morphology of left ventricular trabeculaeAy3Abnormal morphology of right ventricular trabeculae>y0Increased density of left ventricular trabeculae=y/Apical hypertrabeculation of the left ventricle+yThin myocardium compact layer$yCellular urinary casts1y#Renal tubular epithelial cell casts%yAcellular urinary castsy Hyaline castsyGranular castsy Waxy castsy Fatty casts"yBacterial cell casts4y&Reduced lysosomal acid lipase activity(yStriatal T2 hyperintensity yHepatic hemangiomaJyHypoplastic right atrium%z?Left atrial enlargement'z@Atrial septal hypertrophy%zAUnroofed coronary sinus(zBCoronary sinus enlargement+zCElevated left atrial pressure2zD$Abnormal circulating properdin level/zE!Peripheral arterial calcification?zF1Lower extremity peripheral arterial calcification,zGFemoral arterial calcification*zHIliac arterial calcification+zITibial arterial calcification1zJ#Intracranial arterial calcification3zK%Internal carotid artery calcification,zLVertebral artery calcification+zMCerebral artery calcification*zNBasilar artery calcification2zO$Middle cerebral 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cardiomyocyte plakoglobin staining8zk*Abnormal cardiomyocyte dystrophin staining+zlAbnormal lysosomal morphology0zm"Gastric arteriovenous malformation1zn#Duodenal arteriovenous malformation0zo"Jejunal arteriovenous malformation/zp!Pelvic arteriovenous malformation0zq"Colonic arteriovenous malformation/zr!Rectal arteriovenous malformation0zs"Uterine arteriovenous malformation7zt)Dextrotransposition of the great arteries5zu'Levotransposition of the great arterieszvCardiac sarcoma4zw&Calcified amorphous tumor of the heartzxChest tightness(zyOtitis media with effusion"zzSleep onset insomnia"z{Maintenance insomniaz|Terminal insomnia$z}Glomeruloid hemangiomaz~Vegetative state(zCutaneous sclerotic plaque zYellow skin plaquez Zebra bodiesBz4obsolete Sex-limited autosomal recessive inheritancezPalpable purpuraz EcchymosiszMacular purpurazPalate neoplasm$zMetaphyseal striations$zIntestinal perforationzColon perforation*zSmall intestinal perforation zRectal perforationz Cold paresisz Stiff tonguezAnkle weaknessz Refractory)zAbnormal cell proliferation/z!Abnormal lymphocyte proliferation+zAbnormal T cell proliferation+zAbnormal B cell proliferationGz9Decreased lymphocyte proliferation in response to mitogenHz:Decreased lymphocyte proliferation in response to anti-CD3;z-Abnormal lymphocyte surface marker expression,zReduced T cell CD40 expression2z$Megakaryocyte nucleus hypolobulation0z"Increased micromegakaryocyte count:z,Increased multinucleated megakaryocyte count3z%Megakaryocyte nucleus hyperlobulation0z"Abnormal MHC II surface expression/z!Reduced MHC II surface expression0z"Elevated MHC II surface expression9z+Abnormal proportion of CD4-positive T cells9z+Abnormal proportion of CD8-positive T cells$zAbnormal CD4:CD8 ratio2z$Abnormal proportion of naive T cells3z%Decreased proportion of naive T cells3z%Increased proportion of naive T cellsQzCAbnormal proportion of double-negative alpha-beta regulatory T cell]zOReduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells;z-Reduced antigen-specific T cell proliferation7z)Impaired pathogen-specific CD8 cytoxicity0z"Impaired antigen-specific responsezPoroma)zAbnormal cytokine signaling)zImpaired cytokine signaling6z(Increased proportion of CD25+ mast cells,zAbnormal lymphocyte physiologyKz=Abnormal distribution of CD56 bright/dim natural killer cells,zAbnormal chromosome morphology*zAbnormal telomere morphology#zShort telomere length$zHigh serum calcifediol#zHigh serum calcitriol,zAbnormal nasal mucus secretionz Rhinorrhea'zIncreased body mass index8z*Reduced sex -hormone binding protein levelCz5Small yellow foveal lesion with surrounding gray zone+zSmall superior frontal cortex3z%Abnormal cerebellar cortex morphology%zSmall cerebellar cortexLz>Abnormal circulating beta-C-terminal telopeptide concentrationMz?Increased circulating beta-C-terminal telopeptide concentrationMz?Decreased circulating beta-C-terminal telopeptide concentration4z&Abnormal circulating osteocalcin level5z'Increased circulating osteocalcin level5z'Decreased circulating osteocalcin level*zOligoclonal T cell expansion-zPersistent repetition of sounds=z/Restricted or repetitive behaviors or interestsz AlexithymiazAbnormal prosodyzMonotonic speech!zSingsong Intonation zPregnancy exposure9z+Abnormal sex hormone-binding globulin level(zAbnormal angiostatin level:z,obsolete Abnormal tricuspid valve morphology9z+Abnormal tricuspid valve annulus morphology<z.Abnormal tricuspid chordae tendinae morphology9z+Abnormal tricuspid valve leaflet morphology1z#Dilatation of the tricuspid annulus zOral mucosa nodule$zErosion of oral mucosazPenile freckling"zHerpetiform vesicles!zPerineal hemangiomaz Polycyclic9z+Lower extremity subcutanous fat hypertrophy#zLichenoid skin lesion#zOral lichenoid lesion#zApocrine hidrocystoma&zPresacral ganglioneuromazEctopic pregnancyzPulmonary opacityz Adenoiditis"zSoft tissue neoplasm$zBenign muscle neoplasm"zIntramuscular Myxoma)zMusculotendinous retraction+zEsophageal squamous papilloma zGenital blistering.z Abnormal vasa vasorum morphology3z%Impairment in personality functioning/z!Abnormal negative emotional state#zSeparation insecurityzLow self-esteemzRisky behaviorzAnger!zPulmonary chondromaAz3Status epilepticus without prominent motor symptoms4z&Abnormal buccal mucosa cell morphology7z)obsolete Abnormal mitral valve morphologya6z(Abnormal mitral valve annulus morphology.z Dilatation of the mitral annulus6z(Abnormal mitral valve leaflet morphology.z Abnormal mitral valve physiology<z.Abnormal regional left ventricular contraction>z0Reduced contraction of the left ventricular apex$zCold-induced hemolysis*zSubperiosteal bone formation.z Vascular malformation of the lip/z!Capillary malformation of the lip3{%Arteriovenous malformation of the lip,{Venous malformation of the lip#{Hemangioma of the lip:{,Continuous spike and waves during slow sleep!{Epithelial neoplasm%{Glandular cell neoplasm${Ovarian mucinous tumor{Mucinous neoplasm6{(Mucinous cystic neoplasm of the pancreas+{ Mucinous colorectal carcinoma({ Mucinous gastric carcinoma+{ Appendiceal mucinous neoplasm{ Abdominal mass{ Pelvic mass!{Trophoblastic tumor{ Night gasping{ Foamy urine3{%Abnormal circulating T4 concentration4{&Increased circulating T4 concentration4{&Decreased circulating T4 concentration@{2Abnormal circulating thyroid hormone concentration{ Dry nipple#{Linear earlobe crease%{Diagonal earlobe crease;{-Abnormal cutaneous collagen fibril morphology{ Luse bodies7{)Increased proportion of exhausted T cells{Abnormal meiosis*{Oocyte arrest at metaphase I"{Verruciform xanthoma+{Absent posterior alpha rhythm>{0Cauliflower deformity of dermal collagen fibrils{ Groin pain/{!!Vaginal clear cell adenocarcinoma0{""Cervical clear cell adenocarcinoma'{#Salivary gland oncocytoma({$Ampulla of Vater carcinoma{%Keratoacanthoma{&Subretinal fluid{' Retinal edema!{(Subretinal deposits'{)Focal subretinal deposits,{*Multifocal subretinal deposits{+Sub-RPE deposits${,Focal sub-RPE deposits){-Multifocal sub-RPE depositsI{.;Passive dorsiflexion of the 5th finger more than 90 degrees7{/)Increased theta frequency activity in EEGX{0JSeparate origin of the left anterior descending and left circumflex artery[{1MAnomalous origin of the left circumflex artery from the right coronary artery9{2+Abnormal dermoepidermal junction morphologyL{3>Linear IgA deposits along the epidermal basement membrane zoneL{4>Linear IgG deposits along the epidermal basement membrane zoneK{5=Linear C3 deposits along the epidermal basement membrane zone5{6'Myelin-like whorls in vacuolated fibersE{87Elevated circulating palmitoleylcarnitine concentrationB{94Abnormally low T cell receptor excision circle level,{:Cardiac conduction abnormality"{;Abnormal QT interval+{<Follicular infundibulum tumor {=Lymphocytoma cutis1{>#Abnormal flow cytometry test result/{?!Reduced cell surface marker level5{@'Reduced fibroblast surface marker level6{A(Reduced granulocyte surface marker level,{BReduced granulocyte CD55 level,{CReduced granulocyte CD59 level,{DReduced granulocyte CD16 level+{EReduced fibroblast CD55 level+{FReduced fibroblast CD59 level+{GReduced fibroblast CD16 level&{HCoronary cameral fistula9{I+Coronary cameral fistula to right ventricle){JBalanced double aortic arch,{KCoronary arteriovenous fistula!{LBronchial isomerism&{MAbdominal situs ambiguus6{N(Abnormal pulmonary valve cusp morphology3{O%Abnormal aortic valve cusp morphology){PThickened aortic valve cusp'{QAbsent aortic valve cusps+{RTessier number 0 facial cleft%{SParamedian facial cleft+{TTessier number 1 facial cleft+{UTessier number 2 facial cleft{V Orbital cleft+{WTessier number 3 facial cleft+{XTessier number 4 facial cleft+{YTessier number 5 facial cleft+{ZTessier number 6 facial cleft+{[Tessier number 7 facial cleft+{\Tessier number 8 facial cleft+{]Tessier number 9 facial cleft,{^Tessier number 10 facial cleft,{_Tessier number 11 facial cleft,{`Tessier number 12 facial cleft,{aTessier number 13 facial cleft,{bTessier number 14 facial cleft,{cTessier number 30 facial cleft{dUnhappy demeanor{eSuicidal ideation{f Asthenopia'{gEnlarged Eustachian valve,{hSitus inversus with levocardia"{iAbnormal PR interval#{jPR segment depression{kAbnormal P wave!{lAbnormal PR segment"{mPR segment elevation{nNotched P wave{o P mitrale{pP wave inversion{q P pulmonale,{rAbnormal mucociliary clearance2{s$Impaired nasal mucociliary clearance+{tAgenesis of the carotid canal0{u"Abnormality of fundus pigmentation&{vRetinal cotton wool spot#{wPelvic organ prolapse {yGeographic atrophy,{zRecurrent shoulder dislocation4{{&Sub-inner limiting membrane hemorrhage-{}Inferior chorioretinal coloboma'{~Inferior retinal coloboma{Hypopyon${Anterior chamber flare-{Anterior chamber flare grade 1+-{Anterior chamber flare grade 2+-{Anterior chamber flare grade 3+-{Anterior chamber flare grade 4+{ Brown anomaly{ Brow ptosis{Moderate myopia{Pseudoaneurysm%{Coronary ostial atresia+{Globus pallidus calcification*{Aborted sudden cardiac death"{Impaired tandem gait,{Abnormal subpleural morphology%{Subpleural honeycombingW{IAnomalous origin of the right subclavian artery from the descending aorta5{'Isolation of the left subclavian artery_{QAnomalous origin of the left common carotid artery from the main pulmonary artery`{RAnomalous origin of the left common carotid artery from the brachiocephalic arteryP{BAnomalous origin of the right common carotid artery from the aorta2{$Right coronary artery ostial atresia_{QAnomalous origin of the left anterior descending artery from the pulmonary artery.{ Absent left main coronary artery/{!Abnormal radial artery morphology7{)Fusiform ascending tubular aorta aneurysm0{"Fusiform abdominal aortic aneurysm0{"Saccular abdominal aortic aneurysm+{Fusiform aortic arch aneurysm+{Saccular aortic arch aneurysm&{Penetrating aortic ulcer{Aortic rupture8{*Abnormal atrioventricular valve physiology1{#Abnormal tricuspid valve physiology.{ Abnormal aortic valve physiology-{Abnormal heart valve physiology1{#Abnormal pulmonary valve physiology'{Quadricuspid aortic valve:{,Systolic anterior motion of the mitral valve"{Abnormal heart sound{Third heart sound {Fourth heart sound${Loud first heart sound){Abnormal second heart sound7{)Fixed splitting of the second heart sound={/Paradoxical splitting of the second heart sound#{Systolic heart murmur {Midsystolic murmur"{Late systolic murmur!{Holosystolic murmur${Diastolic heart murmur!{Middiastolic murmur%{Continuous heart murmur${Typical atrial flutter,{Reverse typical atrial flutter@{2Orthodromic atrioventricular reentrant tachycardia?{1Antidromic atrioventricular reentrant tachycardia5{'Fascicular left ventricular tachycardia1{#Monomorphic ventricular tachycardia1{#Polymorphic ventricular tachycardia${Atherosclerotic lesion+{Type I atherosclerotic lesion,{Type II atherosclerotic lesion-{Type III atherosclerotic lesion+{Type V atherosclerotic lesion,{Type VI atherosclerotic lesion*{Renal artery atherosclerosis({Abnormal stool composition>{0Increased stool alpha1-antitrypsin concentrationJ{|0Abnormal posterior circulating artery morphology5|'Posterior communicating artery aneurysm9|+Posterior communicating artery infundibulum#|Neurogenic strabismus| Cyclotropia|! Cyclophoria|" Incyclophoria|# Excyclophoria"|$Eosinophilic ascites'|%Microtropia with identity*|&Microtropia without identity#|'Absent coronary sinus1|(#Abnormal ascending aorta morphology&|)Abnormal eyelid movement|*Cogan lid twitch!|+Oblique astigmatism'|,With the rule astigmatism*|-Against the rule astigmatism|.Mixed astigmatism$|/Lenticular astigmatism#|0Irregular astigmatism$|1Increased serum leptin2|2$Decreased circulating glycerol level1|3#Abnormal circulating glycerol level|4 Recurrent|5Clinical courseA|63Elevated circulating apolipoprotein B concentrationD|76Decreased circulating apolipoprotein A-I concentrationD|86Elevated circulating apolipoprotein A-II concentration$|9Vocal cord dysfunction|;Fundus hemorrhage#|<Premacular hemorrhage%|=Intraretinal hemorrhage%|>Abnormal basophil count&|?Increased basophil count&|@Decreased basophil count|AArchibald's sign2|B$Anti-ganglioside antibody positivity|C Bilirubinuria|D Nitrituria"|EColonic eosinophilia|F Palilalia&|GAbnormal oral physiology&|HAbnormal oral morphology=|I/Decreased circulating parathyroid hormone level)|JAbnormal waist to hip ratio*|KIncreased waist to hip ratio*|LDecreased waist to hip ratioK|M=Abnormal hypoxanthine-guanine phosphoribosyltransferase levelK|N=Elevated hypoxanthine-guanine phosphoribosyltransferase levelJ|Oobsolete Decreased serum mast cell beta-tryptase concentration9|+Abnormal circulating selenium concentration:|,Abnormal total hemolytic complement activity;|-Increased total hemolytic complement activityD|6obsolete Decreased total hemolytic complement activitycZ7|)Anti-mitochondrial M2 antibody positivity| Micrographia |Unicornuate uterus/|!Abnormal cranial nerve physiology5|'Abnormal fifth cranial nerve physiology#|Trigeminal anesthesia$|Rhombencephalosynapsis| Fluctuating|Stable| Digital ulcer,|Ovarian sex cord-stromal tumor8|*Juvenile type ovarian granulosa cell tumor4|&Malignant ovarian granulosa cell tumor#|Gastrocnemius myalgia&|Renal artery duplication| Hematocolpos| Rope sign|Rosette"|Homer Wright rosette+|Flexner-Wintersteiner rosette$|True ependymal rosette(|Perivascular pseudorosette |Neurocytic rosette|Ocular flutter+|Aorto-left ventricular tunnel,|Aorto-right ventricular tunnel2|$Abnormal descending aorta morphology(|Ascending aorta hypoplasia%|Delayed ability to walk| Tachylalia2|$Abnormal conus terminalis morphology9|+Conus terminalis arteriovenous malformation6|(Abnormal portal venous system morphology/|!Congenital absence of portal vein| Akathisia |Pleural thickeningD|6Elevated circulating N,N-dimethylglycine concentration8|*Elevated urinary N,N-dimethylglycine level| Tongue tremor0|"Snowball lesion of corpus callosumD|6Recurrent bacterial upper respiratory tract infections*|Usual interstitial pneumonia |Nocturnal seizures%|Neurogenic claudication| Cautious gait| Dystonic gait| Antalgic gaitK|=Elevated circulating aspartate aminotransferase concentration&|Spastic hemiparetic gait&|Spastic paraparetic gait| Leg dystonia| Arm dystonia&|Abnormal serum anion gap&|Elevated serum anion gap'|Decreased serum anion gapI|;Elevated circulating alanine aminotransferase concentration.| Increased RBC distribution width| Cloudy urine)|Reduced blood urea nitrogen8|*Abnormal blood urea nitrogen concentration0|"Subaortic ventricular septal bulge| Presyncope2|$Increased vertical cup-to-disc ratio8|*Increased vertical cup-to-disc ratio - 0.68|*Increased vertical cup-to-disc ratio - 0.78|*Increased vertical cup-to-disc ratio - 0.88|*Increased vertical cup-to-disc ratio - 0.98|*Increased vertical cup-to-disc ratio - 1.0/|!Abnormal urine carbohydrate level2|$Abnormal urine carboxylic acid level&|Elevated urine glycolate)|Abnormal putamen morphology9|+Abnormal pulmonary thoracic imaging finding'|Esophageal food impaction |Esophageal exudate|Polyminimyoclonus/|!Diminished ability to concentrate#|obsolete Muscle spasm B|Perioral spasm| Chvostek signE|7Increased urinary excretion of galactosyl hydroxylysine0|"Apical hypertrophic cardiomyopathy| Hoffmann sign$|Bronchial breath sound|Squawks"|Inspiratory crackles(|Early inspiratory crackles'|Late inspiratory crackles!|Expiratory crackles} Pleural rub} Pink urine} Orange urine} Green urine}Pruritus vulvae} Hemidystonia} Lip tremor} Maceration$}Pulmonary fat embolism*} Infantile constant exotropia&} Basic constant exotropia} Heterophoria} Heterotropia-} Hypermetric horizontal saccades)}Dysmetric vertical saccades+}Dysmetric horizontal saccades}Abnormal sputum!}Sputum eosinophilia%}Multiple mononeuropathy!}Muscle eosinophilia/}!Eosinophilic bladder infiltration-}Eosinophilic liver infiltration.} Eosinophilic dermal infiltration3}%Eosinophilic gallbladder infiltration} Ileal ulcerC}5Reduced circulating alpha-1-antitrypsin concentration} Anetoderma} Retinal dots} Macular dots} Floppy eyelid+}Lateral canthal tendon laxity*}Medial canthal tendon laxity&} Horizontal eyelid laxity$}!Vertical eyelid laxity!}"Upper eyelid laxity!}#Lower eyelid laxity*}$Reduced contrast sensitivity*}%Mildly reduced visual acuity.}' Abnormality of the ocular adnexa/}(!Abnormal ocular adnexa physiology})Vocal cord polyp}+ Odynophagia!},Decreased vigilance'}-Hypoplastic carotid canal&}.Focal cortical dysplasia-}/Focal cortical dysplasia type I.}0 Focal cortical dysplasia type Ia.}1 Focal cortical dysplasia type Ib.}2 Focal cortical dysplasia type Ic.}3 Focal cortical dysplasia type II/}4!Focal cortical dysplasia type IIa/}5!Focal cortical dysplasia type IIb/}6!Focal cortical dysplasia type III0}7"Focal cortical dysplasia type IIIa0}8"Focal cortical dysplasia type IIIb0}9"Focal cortical dysplasia type IIIc0}:"Focal cortical dysplasia type IIId7};)Mild malformation of cortical development$}<Epithelioid hemangioma}=Hypereosinophilia }>Mallory-Weiss tear"}?Ankle joint effusion+}@Gastrointestinal eosinophilia6}A(Abnormal serum bicarbonate concentration7}B)Decreased serum bicarbonate concentration6}C(Elevated serum bicarbonate concentration%}DIncreased urinary mucus4}E&Anti-thyroglobulin antibody positivity(}FLeptomeningeal enhancement$}GEosinophilic pneumonia%}HPopliteal synovial cyst+}IAplasia of the fallopian tube%}KSplenopancreatic fusion6}L(Abnormal male urethral meatus morphology+}MMale urethral meatus stenosis"}NAngel-shaped phalanx!}OMedial degenerationD}Q6Intralamellar mucoid extracellular matrix accumulationD}R6Translamellar mucoid extracellular matrix accumulation0}S"Aortic elastic fiber fragmentation+}TAortic elastic fiber thinning2}U$Aortic elastic fiber disorganization3}V%Aortic smooth muscle cell nuclei loss,}WAortic laminar medial collapse7}X)Aortic smooth muscle cell disorganization$}YAortic medial fibrosis2}Z$Intralamellar aortic medial fibrosis2}[$Translamellar aortic medial fibrosis8}\*Left ventricular outflow tract obstruction<}^.Increased circulating surfactant protein level.}` Abnormal manganese concentration}aHypermanganesemia}bHypomanganesemia'}cPerioral radial furrowing(}dAbnormal doll's eye reflex}eUnusual infection}f Wilson sign"}hSaccadic oscillation(}iMacrosaccadic oscillations"}jConjunctival icterus)}kLimbal stem cell deficiency1}l#Mildly reduced contrast sensitivity5}m'Moderately reduced contrast sensitivity3}n%Severely reduced contrast sensitivity8}o*Abnormal Vistech contrast sensitivity testC}p5Abnormal Pelli Robson contrast sensitivity chart test&}qSemidominant inheritance }rSaccadic intrusion$}tMacrosquare-wave jerks0}u"obsolete Macrosaccadic oscillation}i}v Retinitis,}wobsolete Narrow angle glaucoma/M;}x-Abnormal peripheral nervous system physiology}y Froment sign$}zVery low visual acuity}{Ultra-low vision>}|0Abnormal proportion of unswitched memory B cells?}}1Increased proportion of unswitched memory B cells?}~1Decreased proportion of unswitched memory B cells-}Abnormal plasmablast proportion2}$Increased proportion of plasmablasts2}$Decreased proportion of plasmablasts9}+Mycobacterium abscessus abscessus infection }Cervical dysplasia;}-Decreased circulating total IgG concentration7})Transient decreased circulating total IgG5}'Chronic decreased circulating total IgG>}0Decreased circulating IgG subclass concentration6}(Decreased circulating IgG1 concentration6}(Decreased circulating IgG3 concentration6}(Decreased circulating IgG4 concentration,}Reduced isohemagglutinin levelA}3Decreased specific antibody response to vaccination}Precordial pain}Fetor hepaticus} Burning mouth#}Coffee ground vomitus!}Sural nerve atrophy}HbC hemoglobin}Erythromelalgia} Episodic pain}Breakthrough pain$}Paroxysmal rectal pain#}Episodic eosinophilia}Keratosis pilaris}Joint subluxation}Aphthous ulcer}Abdominal cramps}Skin detachment&}Recurrent genital herpes2}$Unusual infection by anatomical site}Fungal meningitis%}Cryptococcal meningitis%}Coccidioidal meningitis$}Unusual skin infection#}Molluscum contagiosum2}$Increased blood folate concentration-}Placental mesenchymal dysplasia0}"Unusual gastrointestinal infection-}Clostridium difficile enteritis+}Clostridium difficile colitis}Severe infection/}!Severe varicella zoster infection} Bladder pain}Air crescent sign'}Continuous diaphragm sign!}Tree-in-bud pattern}Signet ring sign&}Apical pulmonary opacity'}Parenchymal consolidation$}Flaky paint dermatosis9}+Abnormal circulating globulin concentration;}-Abnormal circulating metabolite concentrationD}6Anomalous hepatic venous drainage into the left atrium3}%Abnormal proportion of memory T cells4}&Decreased proportion of memory T cells4}&Increased proportion of memory T cells0}"Disseminated molluscum contagiosum} Anal neoplasm,}Anal intraepithelial neoplasia6}(Cellular hypersensitivity to mitomycin C8}*Cellular hypersensitivity to diepoxybutane*}Abnormal meniscus morphology} Torn meniscus}Hydatidiform mole=}/Decreased low-density lipoprotein particle size}Abnormal S wave(}Prominent S wave in lead I$}Deep S wave in lead V5(}Decreased prothrombin time'}Abnormal prothrombin time#}Perivascular fibrosis}Rotator cuff tear.} Vulvar intraepithelial neoplasia*}Lymphoid nodular hyperplasia9}+Chronic active Epstein-Barr virus infection4}&Increased circulating galectin-3 levelL}>obsolete Abnormal cerebrospinal fluid metabolite concentrationcnL}>Increased urinary type 1 collagen N-terminal telopeptide level8}*Abnormal circulating free T3 concentration+}Decreased circulating free T35}'Increased urinary epithelial cell count>}0Increased urinary squamous epithelial cell countC}5Increased urinary renal tubular epithelial cell countB}4Increased urinary transitional epithelial cell count*}Disseminated cutaneous warts?}1Lymphocytic infiltration of the colorectal mucosa}Indurated nodule:},Decreased proportion of CD4-positive T cells:},Increased proportion of CD4-positive T cells!}Interface hepatitis&}Periportal emperipolesis(}Serrated intestinal polyps} Blood group}ABO blood group$}Perifollicular fibroma1}#Abnormal sebaceous gland morphology#}Sebaceous hyperplasia} Trichodiscoma<}.Perinuclear antineutrophil antibody positivity<}.Cytoplasmic antineutrophil antibody positivity} Hypochromia>}0Increased circulating creatine kinase MB isoform>}0Increased circulating creatine kinase BB isoform>}0Increased circulating creatine kinase MM isoform.} Anti-La/SS-B antibody positivity=}/Increased circulating immature neutrophil count3}%Increased circulating myelocyte count7})Increased circulating metamyelocyte count3}%Increased circulating band cell count3}%Elevated circulating E selectin level}Cervical neoplasm0}"Cervical intraepithelial neoplasia6}(Abnormal tissue metabolite concentration,}Decreased serum thromboxane B2!}Abnormal metabolism$}Persistent CMV viremia }Persistent viremia }Coccidioidomycosis%}Acinetobacter infection/}!Abnormal immune system morphology} Granuloma$}Eosinophilic granuloma8}*Increased circulating copper concentration,}Opportunistic fungal infection~Histoplasmosis)~Disseminated histoplasmosis&~Pulmonary histoplasmosis%~Chronic tinea infection/~!Opportunistic bacterial infection>~0Nontuberculous mycobacterial pulmonary infection$~Pulmonary tuberculosis&~Increased blood pressure4~&Anti-NMDA receptor antibody positivity0~ "CSF autoimmune antibody positivity8~ *CSF anti-NMDA receptor antibody positivity~ Empty delta sign~ Dural tail sign~ Lemon sign)~Optic nerve tram-track sign)~Extrapulmonary tuberculosisC~5obsolete Elevated urinary N-acetylaspartic acid levelYG~9Increased circulating N-acetylaspartic acid concentration?~1Increased CSF N-acetylaspartic acid concentration ~Recurrent shingles,~Prominent subcalcaneal fat pad&~Lozenge-shaped umbilicus)~2-hydroxyglutarate aciduria"~Abnormal base excess ~Contact dermatitisA~3Disseminated nontuberculous mycobacterial infection>~0Ultra-low vision with retained motion projection=~/Ultra-low vision with retained light projection=~/Ultra-low vision with retained light perception7~)Ultra-low vision with no light perception5~ 'Polyclonal elevation of circulating IgG6~!(Oligoclonal elevation of circulating IgG)~"Monoclonal elevation of IgG0~#"Monoclonal elevation of intact IgG5~$'Monoclonal elevation of IgG light chain5~%'Monoclonal elevation of IgG heavy chain5~&'Monoclonal elevation of IgG kappa chain6~'(Monoclonal elevation of IgG lambda chain0~("Increased circulating IgG subclass.~) Increased circulating IgG3 level.~* Increased circulating IgG1 level.~+ Increased circulating IgG2 level.~, Increased circulating IgG4 level~- Genital warts+~.Kappa Bence Jones proteinuria,~/Lambda Bence Jones proteinuriaH~0:Abnormal circulating mannose-binding protein concentrationI~1;Decreased circulating mannose-binding protein concentrationI~2;Increased circulating mannose-binding protein concentration?~41Increased circulating procalcitonin concentration(~5Abnormal granulocyte count~6Granulocytosis2~7$Increased circulating globulin level2~8$Decreased circulating globulin level+~9Frontotemporal hypertrichosis)~:Abnormal areolar morphology~;Areolar fullness~<Family history&~=Family history of cancer-~>Family history of heart disease~? Health status~@Affected~A Unaffected~BHealthy~CPeriodic fever*~DNon-periodic recurrent fever~ELacunar strokeC~F5Methicillin-resistant Staphylococcus aureus infection#~GInterhemispheric cyst.~H Temporomandibular joint adhesion6~I(Increased urinary 11-deoxycortisol level<~J.Increased urinary 11-deoxycorticosterone levelF~K8Increased urinary 11-deoxytetrahydrocorticosterone level6~L(Oligoclonal elevation of circulating IgM5~M'Polyclonal elevation of circulating IgA6~N(Oligoclonal elevation of circulating IgA5~O'Monoclonal elevation of circulating IgAG~P9Increased circulating specific IgE antibody concentration?~Q1Monoclonal elevated circulating IgE concentration@~R2Oligoclonal elevated circulating IgE concentration?~S1Polyclonal elevated circulating IgE concentration/~T!obsolete Abnormal spirometry testx+~UReduced forced vital capacity<~V.Reduced forced expiratory volume in one second ~XUpslanting toenail+~YElevated cancer Ag 19-9 level*~ZCutaneous lichen amyloidosis+~[Cutaneous macular amyloidosis+~\Cutaneous nodular amyloidosis~] Serinuria~^Sulfocysteinuria~_Phenylalaninuria~` Methioninuria~a Leucinuria,~cDecreased peak expiratory flow@~d2Decreased pre-bronchodilator forced vital capacityA~e3Decreased post-bronchodilator forced vital capacityR~fDDecreased post-bronchodilator forced expiratory volume in one second5~g'Decreased forced expiratory flow 25-75%H~h:Decreased pre-bronchodilator forced expiratory flow 25-75%I~i;Decreased post-bronchodilator forced expiratory flow 25-75%8~j*Increased circulating corticosterone level8~k*Decreased circulating corticosterone level4~l&obsolete Abnormal CSF amino acid level-~mExacerbated by aspirin exposure/~n!Positive direct antiglobulin test+~oAbnormal growth hormone level~pAcidemia~q Alkalemia~r Blood group A~s Isoleucinuria.~t Increased peripheral blast count~uDuffy blood group"~vDuffy Fya positivity"~wDuffy Fyb positivity<~x.Anti-beta 2 glycoprotein I antibody positivity+~yIncreased urinary orosomucoid;~z-Immediate-type hypersensitivity drug reaction)~{Polymorphous light eruption!~}Hydroa vacciniforme ~~Uniparental disomy&~Uniparental heterodisomy#~Uniparental isodisomy<~.Abnormal circulating transferrin concentration<~.Elevated circulating transferrin concentration;~-Reduced circulating transferrin concentration1~#Periventricular nodular heterotopia1~#Periventricular laminar heterotopia4~&Periventricular ribbonlike heterotopia%~Subcortical heterotopiaE~7Nodular subcortical heterotopia in peritrigonal regions9~+Diffuse ribbon-like subcortical heterotopia9~+Mesial parasagittal subcortical heterotopia1~#Curvilinear subcortical heterotopia.~ Transmantle columnar heterotopia~ Citrullinuria~Dysgyria5~'Dysgyria with normal cortical thickness,~Dysgyria with thickened cortex~Aspartic aciduria~ Asparaginuria~Testicular mass3~%Increased urinary phosphoserine level3~%Unilateral perisylvian polymicrogyria2~$Bilateral perisylvian polymicrogyria~ Breast mass*~Subcortical band heterotopia2~$Bilateral generalized polymicrogyria@~2Posterior predominant subcortical band heterotopia?~1Anterior predominant subcortical band heterotopia2~$Diffuse subcortical band heterotopia~Hydroxylysinuria;~-Parasagittal parieto-occipital polymicrogyria#~Retinal microaneurysm%~Periglomerular fibrosis4~&Abnormal HDL subfraction concentration*~Abnormal HDL2a concentration+~Increased HDL2a concentration+~Decreased HDL2a concentration*~Abnormal HDL2b concentration+~Decreased HDL2b concentration+~Increased HDL2b concentration*~Abnormal HDL3a concentration*~Abnormal HDL3b concentration*~Abnormal HDL3c concentration+~Increased HDL3a concentration+~Decreased HDL3a concentration+~Increased HDL3b concentration+~Decreased HDL3b concentration+~Increased HDL3c concentration+~Decreased HDL3c concentration/~!Delayed umbilical cord separation!~Neonatal omphalitisC~5Abnormal circulating C-reactive protein concentrationC~5Reduced circulating C-reactive protein concecntration#~Platelet anisocytosis/~!Airborn particle hypersensitivity~ Blood group B~Blood group AB~ Blood group O"~Past medical history/~!Status post organ transplantation~Pulmonary cyst~Pulmonary bulla~Pulmonary bleb~ Achlorhydria>~0Abnormal dermoepidermal hemidesmosome morphology)~Positive blood arsenic test#~Oral melanotic macule"~Oral melanoacanthoma'~Abnormal lip pigmentation%~Labial melanotic macule,~Reduced granulocyte CD18 level%~Unlayered lissencephaly'~2-3-layered lissencephaly*~Narrowing of medullary canalC~5Abnormal phosphoribosylpyrophosphate synthetase levelD~6Decreased phosphoribosylpyrophosphate synthetase level)~obsolete Tiger-tail banding3~%Increased circulating palmitate level3~%Reduced circulating fibronectin level!~Ureteral hypoplasia#~Bladder trabeculation+~Aplasia of the olfactory bulb$~Past obstetric history#~History of stillbirthB~4Anti-asialoglycoprotein receptor antibody positivity~ Monilethrix"~Focal polymicrogyria/~!Abnormal urine urobilinogen level*~Decreased urine urobilinogen%~6-layered lissencephaly;~-Abnormal circulating vitamin B6 concentration;~-Elevated circulating vitamin B6 concentration(~Lateral spinal meningocele'~Preimplantation lethality+~Beta-aminoisobutyric aciduriaI~;Abnormal pituitary glycoprotein hormone alpha subunit levelJ~~0Exacerbated by contraceptive medication exposure1~#Exacerbated by barbiturate exposure.~ Ameliorated by ethanol ingestion~Lhermitte's sign~ Hydrophobia#~Alien limb phenomenon(~Labiomental fasciculations"~Polyembolokoilamania~Onychotillomania~ Tendon pain-~Superiorly positioned umbilicus(Four-vessel umbilical cord,Supernumerary lacrimal punctum"Deep dermatophytosis-Invasive dermatophyte infection"Majocchi's granuloma*Disseminated dermatophytosis'Increased Burr cell count(Masseter muscular weakness Self hugging- Ameliorated by immunosuppresion Tendon thickening Long thumbD 6Exacerbated by acetylcholinesterase inhibitor exposure;-Ameliorated by acetylcholinesterase inhibitor-Inferiorly positioned umbilicus4&Elevated urinary 4-hydroxybutyric acidQCobsolete Elevated circulating gamma-aminobutyric acid concentrationAK=Decreased tissue succinic semialdehyde dehydrogenase activity@2Elevated CSF gamma-aminobutyric acid concentration>0Elevated CSF 4-hydroxybutyric acid concentration8*Elevated circulating acetone concentration5'Exacerbated by methylxanthine ingestionCervical (neck)-Increased number of lymph nodes&Delayed fracture healingPretibial dimple1#Joint extensor surface localization/!Joint flexor surface localization Knuckle pad&Exacerbated by pregnancy Lithoptysis2 $Predominant small joint localization !Abdominal rigidity "Abdominal guarding&#Low intraocular pressure+$Increased placental thickness7%)Persistent asymmetrical tonic neck reflex!&Howell-Jolly bodies' Hemorrhoids(Abnormal pulse) Weak pulse* Absent pulse+Bounding pulse!,Circumoral cyanosis/-!History of bone marrow transplant#.Absent sperm flagella"/Short sperm flagella#0Coiled sperm flagella&1Microcephalic sperm head 2Tapered sperm head3 Dacryocytosis4Ileitis(5Vaginal mucosal ulceration6Oval macrocytosis7 Lipiduria$8Urinary mulberry cells9Temporal bossing&:Pontine ischemic lacunes$;Increased oocyte death7<)Abnormal urinary nucleobase concentration'=Elevated urinary cytidine,>Elevated urinary uridine level+?Decreased circulating 12-HETE>@0Intracellular accumulation of Dol-PP-GlcNAc2Man52A$Clonal T cell receptor rearrangement*BThird ventricle colloid cyst CVascular hamartoma/D!Abnormal bulbus cordis morphology5E'Abnormal renal insterstitial morphology+FRenal interstitial foam cells)GRenal glomerular foam cells8H*Renal interstitial neutrophil infiltration8I*Renal interstitial eosinophil infiltration9J+Renal interstitial plasma cell infiltration0K"Renal interstitial calcium oxalateL Hand apraxia)MRenal lymphocytic tubulitis*NRenal neutrophilic tubulitis,ORenal interstitial hemosiderin0P"Aplasia of the right hemidiaphragmQMyoglobin casts8R*Renal tubular basement membrane denudation6S(Renal tubular epithelial cell detachmentET7Renal tubular epithelial cell cytoplasmic vacuolization5U'Renal tubular epithelial cell sloughingLV>Blebbing of apical cytoplasm of renal tubular epithelial cells:W,Abnormal renal tubular epithelial morphology<X.Renal tubular epithelial cell hyaline droplets?Y1Multinucleation of renal tubular epithelial cellsBZ4Prominent nucleoli of renal tubular epithelial cells:[,Renal tubular epithelial cell simplification3\%Renal tubular epithelial cell mitosis:],High renal tubular epithelial cell N/C ratio1^#Renal tubular epithelial lipofuscin4_&Renal tubular epithelial cell swelling1`#Thyroidization-type tubular atrophy,aEndocrine-type tubular atrophy;b-Tubulointerstitial mycobacterial infiltration7c)Renal tubular epithelial cell hemosiderin"dTriphalangeal hallux1e#Renal interstitial amyloid deposits1f#Renal glomerular amyloid depositionAg3Abnormal diffusion weighted cerebral MRI morphology8h*Renal interstitial immunoglobulin deposits+iRenal interstitial hemorrhagejRenal necrosis!kPerinephric abscess lIntrarenal abscess>m0Hyperchromasia of renal tubular epithelial cells(nTubular luminal dilatation&oRenal intratubular casts*pIntratubular bilirubin casts+qIntratubular erythrocyte cast+rIntratubular vancomycin casts*sIntratubular leukocyte casts)tRenal intratubular crystals5u'Intratubular dihydroxyadenuria crystals,vIntratubular light-chain casts+wIntratubular hemoglobin casts&xRenal papillary necrosis(yIntratubular hyaline casts)zIntratubular myoglobin cast;{-Tubulointerstitial microganismal infiltration3|%Tubulointerstitial viral infiltration&}Renal interstitial edema1~#Elevated urine mevalonic acid level(Elevated leukocyte cystine. Elevated circulating CCL18 level+Renal interstitial granulomas7)Renal interstitial necrotizing granulomas;-Renal interstitial non-necrotizing granulomas)Renal interstitial deposits>0Renal interstitial mononuclear cell infiltrationA3Renal interstitial xanthogranulomatous inflammation5'Renal tubular epithelial cell apoptosis. Tubularization of Bowman capsuleSkewfootH:Elevated CSF glial fibrillary acidic protein concentrationC5Elevated CSF chitinase-3-like protein 1 concentration:,Elevated CSF chitotriosidase 1 concentration-Elevated lactate:pyruvate ratio8*Impaired flow-mediated arterial dilatation7)Decreased adipose tissue tocopherol level(Febrile status epilepticusN@Elevated circulating lyso-globotriaosylsphingosine concentration>0Status epilepticus with prominent motor symptoms9+Non-convulsive status epilepticus with coma+Convulsive status epilepticus7)Generalized convulsive status epilepticusWIFocal-onset seizure evolving into bilateral convulsive status epilepticus,Focal motor status epilepticus*Adversive status epilepticus+Repeated focal motor seizures-Hyperkinetic status epilepticus*Myoclonic status epilepticus7)Myoclonic status epilepticus without coma4&Myoclonic status epilepticus with coma&Tonic status epilepticus<.Non-convulsive status epilepticus without coma*Autonomic status epilepticusB4Focal non-convulsive status epilepticus without comaCutaneous wound#Acute cutaneous wound%Chronic cutaneous wound-Generalized-onset motor seizure&Eyelid myoclonia seizure%Focal non-motor seizure%Focal cognitive seizure+Focal aware cognitive seizure+Focal aware non-motor seizureL>obsolete Focal aware cognitive seizure with impaired attentionA3Focal aware cognitive seizure with auditory agnosia;-Focal cognitive seizure with auditory agnosiaB4Focal aware cognitive seizure with memory impairment<.Focal cognitive seizure with memory impairment=/Focal aware cognitive seizure with dissociation7)Focal cognitive seizure with dissociationF8Focal aware cognitive seizure with dyscalculia/acalculia@2Focal cognitive seizure with dyscalculia/acalculia:,Focal cognitive seizure with forced thinking2$Focal cognitive seizure with neglect:,Focal cognitive seizure with dyslexia/alexia%obsolete Illusory auras.F8Focal cognitive seizure with receptive dysphasia/aphasiaE7obsolete Focal cognitive seizure with deja vu/jamais vu.G9Focal cognitive seizure with conduction dysphasia/aphasia>0Focal cognitive seizure with dysgraphia/agraphia?1Focal cognitive seizure with left-right confusion1#Focal cognitive seizure with anomiaG9Focal cognitive seizure with expressive dysphasia/aphasia)obsolete Hallucinatory aura.9+Focal aware cognitive seizure with illusion@2Focal aware cognitive seizure with forced thinkingE7Focal aware cognitive seizure with left-right confusion@2Focal aware cognitive seizure with dyslexia/alexia7)Focal aware cognitive seizure with anomiaD6Focal aware cognitive seizure with dysgraphia/agraphiaL>Focal aware cognitive seizure with receptive dysphasia/aphasia(Focal aware clonic seizure4&Focal impaired awareness motor seizureA3Focal impaired awareness motor seizure with version>0Focal impaired awareness bilateral motor seizure+Focal bilateral motor seizure8*Focal impaired awareness non-motor seizureB4Focal impaired awareness motor seizure with dystonia/!Focal motor seizure with dystoniaN@Focal impaired awareness motor seizure with dysarthria/anarthria;-Focal motor seizure with dysarthria/anarthria8*Focal motor seizure with paresis/paralysis'Focal aware tonic seizure5'Focal aware motor seizure with dystonia4&Focal impaired awareness tonic seizure5'Focal impaired awareness clonic seizure;-Focal impaired awareness hyperkinetic seizure4&Focal emotional seizure with agitation5'Focal impaired awareness atonic seizure3%Focal emotional seizure with pleasure8*Focal impaired awareness myoclonic seizure. Focal aware hyperkinetic seizure>0Focal aware motor seizure with paresis/paralysisA3Focal aware motor seizure with dysarthria/anarthria+Focal aware emotional seizure6(Focal aware emotional seizure with anger0"Focal emotional seizure with anger3%Focal emotional seizure with paranoiaC5Focal aware emotional seizure with fear/anxiety/panic=/Focal emotional seizure with fear/anxiety/panic+Focal aware autonomic seizure9+Focal aware emotional seizure with paranoia9+Focal aware emotional seizure with pleasure7)Focal aware emotional seizure with crying:,Focal aware emotional seizure with agitation9+Focal aware emotional seizure with laughing8*Focal impaired awareness emotional seizureF8Focal impaired awareness emotional seizure with pleasureC5Focal impaired awareness emotional seizure with angerF8Focal impaired awareness emotional seizure with paranoiaF8Focal impaired awareness emotional seizure with laughingD6Focal impaired awareness emotional seizure with cryingPBFocal impaired awareness emotional seizure with fear/anxiety/panicG9Focal impaired awareness emotional seizure with agitation)Focal aware sensory seizure8*Focal impaired awareness autonomic seizure8*Focal impaired awareness cognitive seizure,Focal aware hemiclonic seizure+Focal aware myoclonic seizure<.Focal sensory seizure with vestibular features<.Focal sensory seizure with hot-cold sensations@2Focal aware autonomic seizure with pallor/flushing:,Focal autonomic seizure with pallor/flushingJ0Focal impaired awareness behavior arrest seizureD6Focal impaired awareness cognitive seizure with anomia Tonic seizureYKFocal impaired awareness cognitive seizure with receptive dysphasia/aphasiaMyoclonic seizure8*Generalized myoclonic-tonic-clonic seizureRDFocal impaired awareness cognitive seizure with left-right confusionA3Focal aware sensory seizure with olfactory featuresE7Focal impaired awareness cognitive seizure with neglect9+Focal impaired awareness hemiclonic seizureB 4Focal aware sensory seizure with vestibular featuresO!AFocal impaired awareness cognitive seizure with memory impairmentS"EFocal impaired awareness cognitive seizure with dyscalculia/acalculiaQ#CFocal impaired awareness cognitive seizure with dysgraphia/agraphiaN$@Focal impaired awareness sensory seizure with olfactory featuresO%AFocal impaired awareness sensory seizure with vestibular featuresK&=Focal impaired awareness sensory seizure with visual features'Neonatal seizure<(.Neonatal seizure with electrographic correlate/)!Neonatal electro-clinical seizure;*-Focal sensory seizure with cephalic sensation2+$Neonatal electrographic only seizure9,+Neonatal electro-clinical non-motor seizure5-'Neonatal electro-clinical motor seizure6.(Neonatal electro-clinical clonic seizure9/+Neonatal electro-clinical myoclonic seizure30%Neonatal multifocal myoclonic seizure.1 Neonatal focal myoclonic seizure+2Neonatal focal clonic seizure/3!Neonatal bilateral clonic seizure04"Neonatal multifocal clonic seizure55'Neonatal electro-clinical tonic seizure96+Neonatal electro-clinical autonomic seizureD76Neonatal electro-clinical seizure with behavior arrest*8Neonatal focal tonic seizure:9,Neonatal electro-clinical sequential seizure/:!Focal neonatal sequential seizure4;&Multifocal neonatal sequential seizure8<*Neonatal bilateral symmetric tonic seizureE=7Neonatal electro-clinical motor seizure with automatismC>5Neonatal seizure with bilateral asymmetric automatism9?+Neonatal bilateral asymmetric tonic seizure=@/Neonatal bilateral asymmetric myoclonic seizure&ANeonatal epileptic spasm9B+Neonatal seizure with unilateral automatismBC4Neonatal seizure with bilateral symmetric automatism<D.Neonatal bilateral symmetric myoclonic seizure>E0Bilateral asymmetric neonatal sequential seizure1F#Neonatal unilateral epileptic spasm=G/Bilateral symmetric neonatal sequential seizure:H,Neonatal bilateral symmetric epileptic spasm;I-Neonatal bilateral asymmetric epileptic spasm/J!Generalized-onset epileptic spasm)KFocal-onset epileptic spasm6L(Focal impaired awareness epileptic spasm)MFocal aware epileptic spasm9N+Focal motor seizure with negative myoclonus@O2Focal impaired awareness hemifacial clonic seizure8P*Focal aware cognitive seizure with neglect(QAphasic status epilepticusMR?Focal aware cognitive seizure with expressive dysphasia/aphasia>S0Focal aware sensory seizure with visual featuresZTLFocal impaired awareness cognitive seizure with conduction dysphasia/aphasiaOUAFocal impaired awareness sensory seizure with hot-cold sensations3V%Focal aware hemifacial clonic seizure;W-Photosensitive myoclonic-tonic-clonic seizure1X#Focal aware bilateral motor seizure?Y1Focal aware motor seizure with negative myoclonusLZ>Focal impaired awareness motor seizure with negative myoclonusK[=Focal impaired awareness motor seizure with paresis/paralysisH\:Generalized non-convulsive status epilepticus without comaV]HFocal non-convulsive status epilepticus with impairment of consciousness3^%Status epilepticus with ictal paresis0_"Typical absence status epilepticus@`2Focal aware sensory seizure with auditory features2a$Myoclonic absence status epilepticus,bOculoclonic status epilepticus+cRefractory status epilepticus1d#Super-refractory status epilepticusYeKFocal non-convulsive status epilepticus without impairment of consciousnessMf?Focal impaired awareness cognitive seizure with dyslexia/alexia>g0Focal aware cognitive seizure with hallucinationFh8Focal impaired awareness cognitive seizure with illusionAi3Focal aware sensory seizure with cephalic sensationNj@Focal impaired awareness cognitive seizure with auditory agnosia^kPobsolete Focal impaired awareness cognitive seizure with impaired responsivenessMl?Focal aware cognitive seizure with conduction dysphasia/aphasiaBm4Focal aware sensory seizure with hot-cold sensationsNn@Focal impaired awareness sensory seizure with cephalic sensationIo;Focal impaired awareness seizure with dissociation at onsetMp?Focal impaired awareness sensory seizure with auditory featuresQqCobsolete Focal aware cognitive seizure with impaired responsivenessOrAFocal impaired awareness cognitive seizure with deja vu/jamais vuBs4Focal aware cognitive seizure with deja vu/jamais vuEt7Focal aware sensory seizure with somatosensory featuresKu=Focal impaired awareness cognitive seizure with hallucinationZvLFocal impaired awareness cognitive seizure with expressive dysphasia/aphasia(wGeneralized atonic seizureMx?Focal impaired awareness cognitive seizure with forced thinkingAy3Focal aware sensory seizure with gustatory featuresRzDFocal impaired awareness sensory seizure with somatosensory features4{&Focal aware motor seizure with version'|Infection-related seizure6}(Gastroenteritis-related afebrile seizure7~)Seizure precipitated by febrile infectionD6Febrile seizure outside the age of 3 months to 6 years#Music-induced seizureN@Focal impaired awareness sensory seizure with gustatory features&Focal automatism seizure0"Focal orofacial automatism seizure-Focal manual automatism seizure,Focal pedal automatism seizure4&Focal perseverative automatism seizure,Focal vocal automatism seizure-Focal verbal automatism seizure-Focal sexual automatism seizure3%Focal head nodding automatism seizure1#Focal undressing automatism seizure7)Focal aware undressing automatism seizure9+Focal impaired awareness automatism seizure,Focal aware automatism seizure6(Focal aware orofacial automatism seizure3%Focal aware manual automatism seizure2$Focal aware pedal automatism seizure:,Focal aware perseverative automatism seizure2$Focal aware vocal automatism seizure3%Focal aware verbal automatism seizure3%Focal aware sexual automatism seizureC5Focal impaired awareness orofacial automatism seizure9+Focal aware head nodding automatism seizure@2Focal impaired awareness manual automatism seizure?1Focal impaired awareness pedal automatism seizureG9Focal impaired awareness perseverative automatism seizure?1Focal impaired awareness vocal automatism seizure@2Focal impaired awareness verbal automatism seizure@2Focal impaired awareness sexual automatism seizureF8Focal impaired awareness head nodding automatism seizureD6Focal impaired awareness undressing automatism seizureB4Elevated CSF neurofilament light chain concentration-Abnormal chondrocyte morphology/!Lacunar halos around chondrocytesYKobsolete Focal impaired awareness cognitive seizure with impaired attentionK=Increased circulating pancreatic triacylglycerol lipase level(Airway hyperresponsiveness2$Spontaneous cerebrospinal fluid leak8*Posterior crocodile shagreen of the corneaIntrusion symptomH:Recurrent, involuntary, and intrusive distressing memories9+Recurrent trauma-related distressing dreams. Physiological reactivity to cues Dissociation4&Intense psychological distress to cuesB4Avoidance of stimuli associated with traumatic eventAbnormal urine pHAlkaline urine-Renal interstitial inflammation6(Renal cortical interstitial inflammation7)Renal medullary interstitial inflammation)Renal interstitial fibrosis;-Renal interstitial calcium phosphate deposits5'Abnormal renal tubular lumen morphology4&Renal tubular viral cytopathic changes(Usual-type tubular atrophy6(Renal tubular cytomegalovirus inclusions1#Renal tubular adenovirus inclusions4&Renal tubular polyoma virus inclusions;-Renal tubular herpes simplex virus inclusions"Dysmorphic hematuria%Urinary oval fat bodies0"Intratubular calcium oxalate casts2$Intratubular calcium phosphate casts7)Magnesium ammonium phosphate crystalluria(Tubular microcystic change Complex renal cyst$Uric acid crystalluria$Interstitial emphysema%Centrilobular emphysema!Panacinar emphysema%Expiratory air trapping%Traction bronchiectasis'Traction bronchiolectasis,Computed tomographic halo signQCNodular-centrilobular without tree-in-bud pattern on pulmonary HRCT>0Abnormal bronchoalveolar lavage fluid morphologyD6Abnormal cellular composition of bronchoalveolar fluid:,Abnormal bronchoalveolar fluid protein levelI;Elevated bronchoalveolar lavage fluid lymphocyte proportionI;Elevated bronchoalveolar lavage fluid neutrophil proportion>0Lipid-laden macrophages in bronchoalveolar fluidD6Hemosiderin-laden macrophages in bronchoalveolar fluid9+Absent bronchoalveolar surfactant-protein CA3Absent bronchoalveolar dimeric surfactant-protein B>0obsolete Intraalveolar phospholipid accumulationu Atoll sign5'Abnormal alveolar macrophage morphology=/Dust particle inclusion in alveolar macrophages7)Smoker-inclusions in alveolar macrophagesI;Elevated bronchoalveolar lavage fluid eosinophil proportion!Persistent head lag*Delayed ability to roll over,Localized pulmonary hemorrhage3%Abnormal pulmonary fissure morphology5'Abnormal pulmonary fissure architecture. Abnormal pulmonary fissure count-Supernumerary pulmonary fissure/!Decreased pulmonary fissure count'Abnormal cystatin C level(Decreased cystatin C level(Increased cystatin C level'Increased fecal porphyrin#Subglottic laryngitis!Laryngeal papilloma!Bronchial papilloma Tracheal papilloma Palmar warts Plantar warts%Diffuse alveolar damage2$Architectural distortion of the lung$Increased Z-disc width. Increased fecal coproporphyrin 1. Increased fecal coproporphyrin 3Platystencephaly8*Abnormal salivary metabolite concentration. Abnormal salivary cortisol level/!Decreased salivary cortisol level/!Increased salivary cortisol level/!Chronic decreased circulating IgD1#Transient decreased circulating IgD,Chronic absent circulating IgD/!Male reproductive system neoplasm1#Female reproductive system neoplasm?1Transient decreased circulating IgE concentration=/Chronic decreased circulating IgE concentration,Chronic absent circulating IgE1#Transient decreased circulating IgA2$Chronic absent circulating total IgG'White oral mucosal macule#Retinal peau d'orange;-Anti-U1 ribonucleoprotein antibody positivity4&obsolete Anti-Jo-1 antibody positivityhC5Anti-glomerular basement membrane-antibody positivity Hyperpyrexia+Triggered by an abusive adult+ Anti-MDA5 antibody positivity< .Anti-citrullinated protein antibody positivity. Abnormal Schwann cell morphology* Decreased nasal nitric oxide! Migratory arthritis=/Anti-RNA-polymerase-III-autoantibody positivity4&Increased circulating precipitin level)Anti-Sm antibody positivityCytokine storm)Abnormal chorion morphology'Edematous chorionic villiMotor regression Bipedal edema&Michaelis-Gutmann bodies Body acheOASubstantia nigra hypointensity on susceptibility-weighted imagingN@Globus pallidus hypointensity on susceptibility-weighted imaging Pharyngalgia,Impaired executive functioning#Non-epileptic seizure PseudoseizureMyoclonic tremor&Impaired ability to plan* Impaired ability to organizeO!ADecreased circulating terminal complement component concentration?"1Decreased circulating complement C7 concentration?#1Decreased circulating complement C6 concentration?$1Decreased circulating complement C5 concentration*%Increased factor IX activity)&Abnormal factor IX activity#'Shortened sleep phaseA(3Renal interstitial globotriaosylceramide inclusions)Mild albuminuria *Severe albuminuria"+Cystine crystalluria%,Medication crystalluria?-1Renal interstitial IgG4+ plasma cell infiltration&.Impaired self monitoring&/Impaired task monitoring30%Abnormal macroscopic urine appearance1 Urate tophus'2Steroid-responsive anemiaF38Inappropriately normal thyroid-stimulating hormone level84*Abnormal circulating free T4 concentration95+Increased circulating free T4 concentration96+Decreased circulating free T4 concentration57'Aplasia/Hypoplasia of the thyroid glandV8HAbnormal TSH response to thyrotrophin-releasing hormone stimulation testT9FAbsent TSH response to thyrotrophin-releasing hormone stimulation testU:GReduced TSH response to thyrotrophin-releasing hormone stimulation test:;,Increased circulating farnesol concentration,<Abnormal antral follicle count+=Reduced antral follicle count->Increased antral follicle count?Quotidian fever@ Valinuria*ABranched-chain aminoaciduria:B,Increased aromatic amino acid level in urineC Tyrosinuria-DIncreased urine succinate levelBE4Increased glutamine family amino acid level in urine-FIncreased urine glutamate level8G*Increased sulfur amino acid level in urineBH4Increased aspartate family amino acid level in urineGI9Increased urine proteinogenic amino acid derivative levelBJ4Increased urinary non-proteinogenic amino acid level9K+Increased serine family amino acid in urine?L1Increased proteinogenic amino acid level in urine0M"Elevated urine aconitic acid level(NMonkey wrench femoral neck/O!Elevated circulating CHI3L1 level,PInappropriate absence of fever(QInterhypothalamic adhesion8R*Elevated circulating D-dimer concentrationIS;Abnormal circulating proteinogenic amino acid concentrationTTFAbnormal circulating proteinogenic amino acid derivative concentrationMU?Abnormal circulating non-proteinogenic amino acid concentrationHV:Elevated circulating alpha-aminobutyric acid concentration*W3-hydroxyisovaleric aciduriaEX7Elevated circulating apolipoprotein C-III concentrationY Gallop rhythm%ZQuadruple gallop rhythm3[%Elevated circulating tenascin-C level)\Duodenal gastric metaplasia] Duodenitis1^#Abnormal right ventricular function:_,Elevated right ventricular systolic pressure`Nummular eczemaa Barking coughb Absent P wave4c&Elevated circulating osteopontin level4d&Increased serum sorbitol concentration!eFollicular lymphoma fCutaneous necrosis7g)Abnormality of the musculoskeletal system&hDelayed ability to crawl*iAbnormal shoulder physiology)jAbnormal renal echogenicity/k!Renal medullary hyperechogenicity.l Renal cortical hyperechogenicity,mRenal cortical hypoechogeneity!nAbdominal adhesions oHepatic infarction pLymph node abscess;q-Abnormal pulmonary alveolar system morphology#rRight atrial thrombus7s)Elevated circulating uracil concentration tBlake's pouch cyst)uSevere SARS-CoV-2 infectionvLong nasal bridgew Jejunitis>x0Abnormal circulating ceruloplasmin concentration?y1Increased circulating ceruloplasmin concentrationDz6Elevated circulating methylsuccinic acid concentrationG{9Abnormal circulating short-chain fatty-acid concentrationA|3Increased circulating isovaleric acid concentration/}!Intrahepatic bile duct dilatation~Anorectal abscess)Abnormal pharynx morphology)Abnormal pharynx physiologyD6Elevated circulating dodecenoylcarnitine concentrationB4Elevated circulating deoxypyridinoline concentrationA3Elevated circulating L-alloisoleucine concentration3%Elevated urine L-alloisoleucine levelB4Elevated circulating 3-methylhistidine concentration;-Reduced respiratory ciliary beating frequency+Reduced urinary inosine level/!Decreased urinary guanosine level+Abnormal urinary purine level/!Abnormal urinary pyrimidine level3%Small intestinal bacterial overgrowth"Focal active colitis'Necrotizing enterocolitis@2Recurrent viral upper respiratory tract infections0"Neutrophilic urticarial dermatosis0"Reduced mevalonate kinase activity)Reduced total lung capacity5'Abnormal skinfold thickness measurement1#Abnormal triceps skinfold thickness2$Increased triceps skinfold thickness>0Milky appearance of bronchoalveolar lavage fluid1#Bloody bronchoalveolar lavage fluid=/Elevated circulating 5-oxoproline concentration2$Submandibular lymph node enlargement=/Elevated circulating suberic acid concentration?1Increased circulating interleukin 8 concentration>0Elevated circulating aconitic acid concentration+Torsion of appendix of testis%Spinal epidural abscess5'Increased circulating cathepsin D level Bilobed right lung$Triggered by infection(Triggered by EBV infection1#Misalignment of the pulmonary veins$Hyperimidodipeptiduria Cystic acneRadiculomegaly1#Hypertrichotic hyperpigmented patch:,Increased circulating selenium concentration:,Decreased circulating selenium concentration0"Ballooning hepatocyte degenerationPerioral erythemaPerianal erythema!Portal inflammation*Hepatic lobular inflammation*Triggered by viral infection@2Increased circulating interleukin 10 concentration"Triceps hyporeflexia!Biceps hyporeflexia*Brachioradialis hyporeflexia+Brachioradialis hyperreflexia#Triceps hyperreflexia"Biceps hyperreflexia)Hyperactive Achilles reflexN@Increased proportion autoreactive unresponsive CD21-/low B cells*Alveolar capillary dysplasiaAcinar dysplasia+Congenital alveolar dysplasia3%Decreased total iron binding capacity2$Abnormal total iron binding capacity/!Elevated urine suberic acid level'Recurrent viral pneumonia>0Obliterative abnormality of the renal glomerulus#Glomerular hyalinosis-Perihilar glomerular hyalinosis7)Glomerular hyalinosis at the tubular poleL>Glomerular hyalinosis away from the vascular and tubular poles(2-ethylhydracylic aciduria%Increased CD4:CD8 ratio%Decreased CD4:CD8 ratioE7Abnormal glomerular parietal epithelial cell morphology=/Glomerular parietal epithelial cell hyperplasia=/Glomerular parietal epithelial cell hypertrophy+Bowman capsular hyaline drops+Glomerular synechial adhesionTriceps areflexia'Brachioradialis areflexiaBiceps areflexia7)Abnormal glomerular mesangial cellularity=/Abnormal glomerular mesangial matrix morphology$Paramesangial deposits*Mesangial hyaline deposition*Difficulty descending stairsCognitive fatigue1#Visceral epithelial cell detachment2$Podocyte microvillous transformation. Visceral epithelial cell capping#Elevated RV/TLC ratioPolyalveolar lobeHorseshoe lung Pulmonary necrosisC5Glycogen accumulation in pulmonary interstitial cells=/Abnormal alveolar type II pneumocyte morphology,Type II pneumocyte hypertrophy#Pulmonary amyloidosis@2Multiple pulmonary interstitial hyalinized nodules6(Focal substantia nigra T2 hyperintensity+Nailfold capillary tortuosity&Elevated residual volume#Palmar hyperlinearity@2Reduced circulating interferon gamma concentration!Anorectal stricture,Congenital lobar overinflation Pancolitis2$Delayed ability to walk with support1#Sudden unexpected death in epilepsyNon-motor seizureLivedo racemosa#Renal artery aneurysm9+Transphyseal fracture of the distal humerus,Absent platelet dense granules. Enlarged platelet dense granules%Podocyte myelin figures'Glomerular pseudocrescent<.Abnormal glomerular capillary lumen morphology. Deflation of the glomerular tuft+Glomerular capillary collapse-Glomerular capillary congestion0"Glomerular capillary microaneurysm=/Abnormal glomerular endothelial cell morphology>0Loss of glomerular endothelial cell fenestration&Glomerular endotheliosis>0Glomerular endothelial tubuloreticular inclusion@2obsolete Glomerular endocapillary hypercellularity+Glomerular fibrinoid necrosis7)Reduced CD95-induced lymphocyte apoptosis%Enterocutaneous fistula*Paratracheal lymphadenopathy3%Circulating nucleated red blood cells>0Abnormal glomerular basement membrane morphology@2Segmentally thickened glomerular basement membrane>0Diffusely thickened glomerular basement membraneUGThickened glomerular basement membranes with no electron dense depositsRDThickened glomerular basement membranes with electron dense deposits4&Glomerular basement membrane lucencies1#Glomerular basement membrane spikes4 &Glomerular basement membrane wrinkling0 "Glomerular subendothelial widening. Glomerular karyhorrhectic debris( Glomerular fibrin thrombus/ !Glomerular hyaline pseudothrombus-Glomerular lipoprotein thrombus1#Mesangial Immune complex deposition3%Binucleated visceral epithelial cells6(Multinucleated visceral epithelial cellsVHAbnormal circulating complement factor H related protein 1 concentrationUGReduced circulating complement factor H related protein 1 concentrationWIIncreased circulating complement factor H related protein 1 concentrationB4Elevated circulating 1-methylhistidine concentrationK=Elevated circulating 4-hydroxyphenylacetic acid concentration8*Elevated urinary monocarboxylic acid levelF8obsolete Elevated urine 4-hydroxyphenylacetic acid level9+Abnormal circulating fetuin A concentration:,Decreased circulating fetuin A concentration:,Increased circulating fetuin A concentration!Patellar overgrowth'Ileoileal intussusceptionOsmotic diarrhea)Abdominal aortic dissection. Abnormal Bowman space morphology+!Urinary space collagenization2"$Visceral epithelial cell hyperplasia2#$Visceral epithelial hyaline droplets+$Glomerular crescent formation%Cellular crescent$&Fibrocellular crescent'Fibrous crescent!(Mesangial cell loss%)Glomerular obsolescenceR*DGlomerular capillary wall duplication without cellular interpositionO+AGlomerular capillary wall duplication with cellular interpositionB,4Elevated circulating homovanillic acid concentration=-/Elevated circulating sebacic acid concentrationJ.$Anti-aquaporin 4 antibody positivity?Mucoid diarrhea#@Pleural cobblestoningA Neuralgia$BPsychic epileptic aura&CCognitive epileptic auraDEpileptic auraESeizure cluster=F/Elevated forced expiratory volume in one second!GCandida esophagitis+HPulmonary hypertensive crisis.I Abnormal blood vessel morphology-JAbnormal urine metabolite level5K'Increased urine deoxypyridinoline level@L2Elevated circulating o-phosphoserine concentration#MLimited head rotation'NAbnormal urine osmolalityOHyperosthenuria1P#Impaired ability to shift attentionQ Nasal ulcer'RRecurrent coughing spasmsSHyaline membranesTLipoid pneumonia)UEndogenous lipoid pneumonia(VExogenous lipoid pneumoniaW OrthodeoxiaX Platypnea'YCavitating leukodystrophy&ZBronchial telangiectasia+[Bronchocentric granulomatosis\ Abnormal KCO] Increased KCO^ Decreased KCO_ Anthracosis(`Alveolar septal thickening3a%Increased airway neuroendocrine cells5b'Increased airway neuroepithelial bodies*cBilateral superior vena cavadNasal chondritisBe4Elevated circulating stearoylcarnitine concentrationCf5Elevated circulating palmitoylcarnitine concentrationBg4Decreased compound muscle action potential amplitude<h.Elevated urinary collagen degradation products/i!Elevated urine pyridinoline levelMj?Abnormal circulating collagen degradation product concentration=k/Elevated circulating pyridinoline concentration2l$Abnormal bronchial artery morphology*mBronchopulmonary anastomosis)nBronchial artery dilatation*oBronchial artery hypertrophyFp8Perivascular pre-capillary pulmonary artery inflammation+qIrregularly shaped sperm tail<r.Anti-carbonic anhydrase II antibody positivity1s#Antilactoferrin antibody positivity.t Glomerular extracapillary fibrin/u!Bowman-space proteinaceous debrisvPleural plaquewPersistent feverx Acute abdomenyTissue ischemiazDigital ischemia!{Testicular ischemia!|Intestinal ischemiaG}9Abnormal circulating organic amino compound concentrationD~6Elevated circulating phosphoethanolamine concentration3%Elevated urine acetoacetic acid levelA3Elevated circulating acetoacetic acid concentration4&Elevated urinary 2-hydroxybutyric acidTFElevated circulating cartilage oligomeric matrix protein concentration&Lower extremity akinesia&Upper extremity akinesia)Upper extremity hypokinesia)Lower extremity hypokinesiaCardiac tamponade#Hip adductor weaknessD6Elevated circulating hydroxybutyric acid concentrationF8Elevated circulating 2-hydroxybutyric acid concentrationF8Elevated circulating 3-hydroxybutyric acid concentration1#Pulmonary arterial plexiform lesion1#Pulmonary artery intimal thickening3%Pulmonary artery adventitial fibrosisZLPulmonary arterial hypertension with positive acute response to NO challengeYKPulmonary arterial hypertension with lack of acute response to NO challenge!Periungual erythema$Pulmonary air embolism. Pulmonary capillary angioectasia'Systemic autoinflammationNeuroinflammation'Non-infectious meningitis%Cytomegalovirus colitis+Opportunistic viral infectionIleocecal ulcer&Nasal septum perforation:,Abnormal circulating keto acid concentrationK=Elevated circulating 3-methyl-2-oxovaleric acid concentrationM?Elevated circulating 4-methyl-2-oxopentanoic acid concentration:,Elevated circulating myoglobin concentrationB4Elevated circulating decenoylcarnitine concentrationB4Elevated circulating octenoylcarnitine concentrationB4Elevated circulating hexanoylcarnitine concentrationB4Elevated circulating glutarylcarnitine concentrationC5Elevated circulating propionylcarnitine concentrationD6Elevated circulating dodecanoylcarnitine concentration=/Reduced circulating acylcarnitine concentrationA3Elevated circulating butyrylcarnitine concentrationD6Elevated circulating isovalerylcarnitine concentration4&Increased mid-arm muscle circumference4&Decreased mid-arm muscle circumference;-Abnormal circulating prealbumin concentration<.Increased circulating prealbumin concentrationE7obsolete Decreased circulating prealbumin concentrationym$Limited neck extension Tube feeding?1obsolete Elevated urinary dicarboxylic acid level ,Elevated urine keto acid level=/Elevated urine 3-methyl-2-oxovaleric acid level?1Elevated urine 4-methyl-2-oxopentanoic acid level@2Decreased circulating apolipoprotein concentration>0Increased circulating apolipoprotein circulationK=Elevated circulating 3-hydroxylinoleylcarnitine concentration?1Elevated circulating oleylcarnitine concentrationN@obsolete Elevated circulating palmitoleylcarnitine concentration{8N@Elevated circulating 3-hydroxypalmitoleylcarnitine concentrationG9Elevated circulating tetradecanoylcarnitine concentration Weak grip'Low 10-minute APGAR score(10-minute APGAR score of 0(10-minute APGAR score of 1(10-minute APGAR score of 2(10-minute APGAR score of 3(10-minute APGAR score of 4(10-minute APGAR score of 5(10-minute APGAR score of 6(Limited shoulder abduction4&Extractable nuclear antigen positivityC5Abnormal circulating lipoprotein lipase concentrationD6Increased circulating lipoprotein lipase concentration:,Abnormal circulating bilirubin concentrationHypobilirubinemia*Limited lateral neck flexion&Limited shoulder flexion Podocyte infoldingB4Elevated circulating linoleylcarnitine concentration5'Glomerular basement membrane disruption;-Abnormal glomerular basement membrane texture;-Glomerular basement membranes powdery depositA3Glomerular endocapillary leukocyte hypercellularityB4Glomerular endocapillary neutrophil hypercellularityA3Glomerular endocapillary foam-cell hypercellularity(Global mesangial sclerosis0"Podocyte cytoskeletal condensation(Mesangial matrix expansion:,Glomerular basement membrane amyloid spicule*Segmental glomerulosclerosis4&Perihilar segmental glomerulosclerosis6(Tip variant segmental glomerulosclerosisSESegmental glomerulosclerosis away from the vascular and tubular polesB4Glomerular basement membrane electron dense depositsQCSubendothelial glomerular basement membrane electron dense depositsPBSubepithelial glomerular basement membrane electron dense deposits9+Abnormal esterified to free carnitine ratio1#Elevated CSF fumarate concentration9+Elevated circulating fumarate concentration Livedo reticularis:,Increased esterified to free carnitine ratio:,Decreased esterified to free carnitine ratioEBV meningitisEBV encephalitisCutaneous horn%Addictive substance use%Addictive stimulant use#Addictive cocaine use'Addictive amphetamine use"Addictive opioid use*Addictive benzodiazepine use"Addictive heroin use+Addictive methylphenidate use+Addictive methamphetamine use"Paradoxical embolism Nasal dryness-Cerebral cavernous malformation7)Abnormal sperm principal piece morphology/!Abnormal sperm axoneme morphology7)Absent sperm axoneme central pair complex(Limited ankle dorsiflexionUGDecreased gonadotropin-stimulated testosterone-to-androstenedione ratio%Abnormal cardiac output$Abnormal cardiac index%Increased cardiac index%Decreased cardiac index&Decreased cardiac output&Increased cardiac outputK=Increased circulating brain natriuretic peptide concentration-Reduced platelet dense granules-Reduced platelet alpha granules2$Mosaic pulmonary attenuation pattern*Aortic annulus calcification1#Bilateral apical pulmonary fibrosis,Reversible airflow obstruction. Irreversible airflow obstruction'Bronchial wall thickening$Addictive nicotine use)Mesangial fibril deposition+ Mesangial fibrillary deposits. Mesangial microfibril deposition. Mesangial immunotactoid deposits* Mesangial amyloid deposition' Nodular mesangiosclerosis2$Necrotizing pulmonary granulomatosis6(Non-necrotizing pulmonary granulomatosisChronic villitisSeptic embolism*Anti-Mi2 antibody positivity. Anti-Ro/SS-A antibody positivity5'Anti-nucleoporin 62 antibody positivity3%Anti-proteinase 3 antibody positivity. Anti-histone antibody positivity6(Anti-myeloperoxidase antibody positivity-Anti-PM-Scl antibody positivitySEAnti-bactericidal/permeability-increasing protein antibody positivity7)Anti-glycoprotein-210 antibody positivity>0Anti-tissue transglutaminase antibody positivityStasis dermatitisA3Anti-epidermal transglutaminase antibody positivity'Abnormal ventricular axis"Right axis deviation! Left axis deviation$!Extreme axis deviation,"Indeterminate ventricular axis,#Peripheral lung neovascularity)$Anti-H1 antibody positivity)%Anti-H4 antibody positivity)&Anti-H3 antibody positivity*'Anti-H2A antibody positivity*(Anti-H2B antibody positivity1)#In situ pulmonary artery thrombosis2*$Pre-capillary pulmonary hypertension^+PDecreased growth hormone responses to growth hormone-releasing hormone challenge9,+Compound motor action potential abnormalityD-6Absent peripheral lymph nodes in presence of infection<..Pulmonary interstitial lymphocyte infiltration&/Follicular bronchiolitis00"Nonspecific interstitial pneumonia:1,Fibrotic non-specific interstitial pneumonia:2,Cellular non-specific interstitial pneumonia3Vulvar abscess4Labial adhesion5 Flatulence6Inguinal abscess7Staghorn calculus,8Anti-H3-H4 antibody positivity.9 Anti-H2A-H2B antibody positivity0:"Elevated urinary 7-biopterin levelF;8Elevated circulating globotriaosylceramide concentration<<.Elevated urinary 3-methylcrotonylglycine level;=-Decreased mucosal sucrase-isomaltase activity9>+Fibrillar glomerular subepithelial deposits7?)Glomerular amyloid subepithelial deposits:@,Fibrillary glomerular subepithelial deposits>A0Glomerular subepithelial immune-complex deposits7B)Glomerular hyaline subepithelial deposits/C!Glomerular subepithelial deposits5D'Glomerular capillary wire loop depositsE Pustular rash+FBone marrow maturation arrest;G-Bone marrow arrest at the promyelocytic stageHPulmonary nodule$ISolid pulmonary nodule'JSubsolid pulmonary nodule)KPart-solid pulmonary nodule0L"Pure ground-glass pulmonary nodule+MPerifissural pulmonary noduleNTracheal bronchus)ODisplaced tracheal bronchus(PAccessory cardiac bronchus-QSupernumerary tracheal bronchus/R!Displaced lobar tracheal bronchus)STypical perifissural nodule*TAtypical perifissural nodule#UBronchial diverticula+VMigratory erythematous plaqueW Birth history1X#History of congenital CMV infection"YEmotional insecurity9Z+Increased non-HDL cholesterol concentration4[&Increased urine harderoporphyrin level \Bowel irritability1]#IgG4 autoimmune antibody positivity^ Brain fog_ Spondylitis&`Abnormal alveolar volume'aDecreased alveolar volume'bIncreased alveolar volume3c%Post-capillary pulmonary hypertensionEd7Combined pre- and post-capillary pulmonary hypertension1e#Anti-endomysial antibody positivity,fIntralobular septal thickening'gSeptic pulmonary embolism!hAcetabular erosions0i"Aortic valve leaflet calcification0j"Mitral valve leaflet calcificationLk>Increased circulating very long-chain fatty acid concentration?l1Elevated circulating erythropoietin concentration%mMidline brainstem cleft+nAbsent hippocampal commissureoSilhouette sign$pPulmonary pseudocavity"qParaseptal emphysema(rPulmonary parenchymal band sPulmonary mycetomat Broncholithu Bronchocele vBeaded septum signwPulmonary cavityxJuxtaphrenic peak yLinear atelectasis!zRounded atelectasis+{obsolete Crazy-paving patternc/|Hand paresthesia} Air crescent~Air bronchogram Air trapping Ganglioglioma7)Diminished health-related quality of life-Diminished physical functioning&Diminished mental health*Abnormal amygdala morphologyEnlarged amygdala"Organizing pneumonia Pulmonary oligemia(Positive carpal Tinel sign"Positive Phalen test1#Pulmonary blood flow redistributionFrailty*Posttraumatic stress symptom1#Acute respiratory distress syndrome%Acute coronary syndrome-Abnormal red nucleus morphology#Pilocytic astrocytomaOligodendroglioma+Pleomorphic xanthoastrocytomaJaw hyperreflexia5'Abnormal muscle fiber-type distribution!Fiber type grouping'Mitochondrial hypertrophy*Short term memory impairment)Long term memory impairment+Anterograde memory impairment*Retrograde memory impairment$Procedural memory loss%Declarative memory loss Phantosmia#Tactile hallucination%Occupational disabilityPseudo-chilblain Vesicular eruption,Monomorphic vesicular eruption,Polymorphic vesicular eruption&Papulovesicular eruption2$Cortical sclerosis of the iliac wing)Subpleural curvilinear line4&Dysembryoplastic neuroepithelial tumor0"Elevated urinary homogentisic acid Tearfulness*Progressive massive fibrosis%Perioral hyperkeratosisPBAnti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity)Increased sputum production Rest dyspnea/!Pulmonary interstitial thickening+Repeated implantation failureB4Anti-signal recognition particle antibody positivity"Multiple meningiomas#Hippocampal sclerosis6(EEG with frontal epileptiform discharges7)EEG with temporal epileptiform discharges6(EEG with central epileptiform discharges7)EEG with parietal epileptiform discharges8*EEG with occipital epileptiform discharges=/EEG with centrotemporal epileptiform discharges&Autonomic epileptic aura7)Abnormal cerebral venous sinus morphology. Cerebral venous sinus thrombosis"Thin corpus callosumLupus nephritis%Diffuse lupus nephritis5'Mesangial proliferative lupus nephritis/!Minimal mesangial lupus nephritis(Membranous lupus nephritis#Focal lupus nephritis0"Advanced sclerotic lupus nephritis-Low-grade vesicoureteral reflux. High-grade vesicoureteral reflux+Grade I vesicoureteral reflux,Grade II vesicoureteral reflux-Grade III vesicoureteral reflux+Primary vesicoureteral reflux-Secondary vesicoureteral reflux+Grade V vesicoureteral reflux,Grade IV vesicoureteral refluxIntrarenal refluxMacular agenesis)Global cerebellar dysplasia9+Dysplasia of the superior cerebellar vermis Intrascapular pain. Abnormal exteroceptive sensation Hypoesthesia3%Abnormal functional residual capacity2$Reduced functional residual capacity3%Elevated functional residual capacity&Abnormal residual volume%Reduced residual volume<.Abnormal left ventricular end-diastolic volume=/Increased left ventricular end-diastolic volume=/Decreased left ventricular end-diastolic volume"Pancreatic steatosisLabial abscess>0Impaired renal tubular reabsorption of magnesium-Decreased maximal oxygen uptake0"Xanthogranulomatous pyelonephritis+Middle cerebral artery stroke Death in adulthood!Death in middle age%Death in late adulthood Polymelia9+Abnormal single motor unit action potential Penile thrush$Fundic gland polyposis$Gastric adenocarcinoma"Pleuritic chest pain#Abnormal RV/TLC ratio$Decreased RV/TLC ratio>0Impaired renal tubular reabsorption of uric acid$Pulmonary imaging sign Enamel pearls Supernumerary cusp Leung cusp!Barrel-shaped tooth Bulbous tooth Tapered toothSemilunar tooth(Molar incisor malformationDentin dysplasiaEnamel agenesisHypomature enamel!Cementum hypoplasia!Cementum overgrowth+Triggered by cheese ingestion&Thistle tube shaped pulpTooth ankylosis Cross bite)Triggered by food ingestionAcral overgrowth+Growth without growth hormone+Abnormal leukocyte physiology(Leukocyte migration defect)Impaired leukocyte adhesion<.Abnormal circulating sex hormone concentration/!Blistering by anatomical location1 #Blistering by histological location( Intra-epidermal blistering' Sub-lamina densa cleavage% Subepidermal blistering' Non-necrotizing granuloma>0Abnormal epidermis stratum granulosum morphology*Absent keratohyalin granules SpermatoceleH:Increased circulating 17 hydroxypregnenolone concentrationE7Decreased circulating dihydrotestosterone concentration@2Abnormal circulating androstenedione concentrationA3Decreased circulating androstenedione concentration Perilobular ParaseptalBronchocentric CentrilobularMiliary Reticular PerilymphaticApicalPulmonary mass&Mass on thoracic imagingMediastinal mass Pleural mass'!Superior mediastinal mass'"Inferior mediastinal mass'#Anterior mediastinal mass%$Middle mediastinal mass(%Posterior mediastinal mass'&Hyperdense pulmonary mass''Cavitating pulmonary mass(Livedo=)/Elevated circulating soluble CD25 concentration*Malaise0+"Abnormal renal vascular morphology3,%Abnormal intrarenal artery morphology0-"Abnormal arcuate artery morphology. Dysphoria/Testicular pain%0Postmenopausal bleeding1Ocular pruritus2 Early satiety#3Postprandial fullness4Racing thoughts%5Sense of impending doom$6Spinal hypomyelination7 Phantageusia8Receptive aphasia9Bilingual aphasia:Coldness#;Oculomotor synkinesis1<#Abnormal intrarenal vein morphology.= Abnormal arcuate vein morphology3>%Abnormal interlobular vein morphology9?+Abnormal interlobular vein lumen morphology?@1Cholesterol emboli within interlobular vein lumen<A.Intraluminal thrombi within interlobular veins>B0Organized thrombi within interlobular vein lumen7C)Abnormal peritubular capillary morphology@D2Abnormal cortical peritubular capillary morphologySEEMultilamellation of cortical peritubular capillary basement membranes/F!Cortical peritubular capillaritisFG8Abnormal cortical peritubular capillary lumen morphologyAH3Abnormal medullary peritubular capillary morphology0I"Medullary peritubular capillaritisDJ6Medullary peritubular capillary erythrocyte congestionTKFMultilamellation of medullary peritubular capillary basement membranesGL9Abnormal medullary peritubular capillary lumen morphologyFM8Medullary peritubular capillary lumen cholesterol emboliBN4Medullary peritubular capillary intraluminal thrombiEO7Medullary peritubular capillary lumen organized thrombiEP7Cortical peritubular capillary lumen cholesterol emboliAQ3Cortical peritubular capillary intraluminal thrombiDR6Cortical peritubular capillary lumen organized thrombi4S&Abnormal arcuate vein lumen morphology3T%Arcuate vein lumen cholesterol emboli/U!Arcuate vein intraluminal thrombi2V$Arcuate vein lumen organized thrombi;W-Abnormal arcuate vein intima/media morphology/X!Arcuate vein intimal mucoid edemaAY3Arcuate vein intimal/medial myxomatous degeneration4Z&Arcuate vein intima/medial amyloidosis8[*Abnormal cortical radial artery morphology>\0Abnormal cortical radial artery lumen morphology=]/Cortical radial artery lumen cholesterol emboli=^/Abnormal arcuate artery intima/media morphology?_1Cortical radial artery intimal/medial amyloidosisE`7Abnormal cortical radial artery intima/media morphology1a#Abnormal renal arteriole morphology7b)Abnormal renal arteriole lumen morphology7c)Renal arteriolar lumen cholesterol emboli>d0Abnormal renal arteriole intima/media morphology6e(Renal arteriolar lumen organized thrombi3f%Renal arteriolar intraluminal thrombi=g/Abnormal renal arteriole endothelium morphology6h(Abnormal arcuate artery lumen morphology5i'Arcuate artery lumen cholesterol emboli1j#Arcuate artery intraluminal thrombi4k&Arcuate artery lumen organized thrombi6l(Renal arteriole intima/media amyloidosis<m.Abnormal arcuate artery endothelium morphology*nArcuate artery endotheliosis:o,Arcuate artery endoarterial hypercellularity5p'Renal arteriole intima/media hyalinosis:q,Arcuate artery intima/media arteriosclerosis/r!Renal intimal/medial arteriolitis=s/Renal arteriole intima/media arteriolosclerosis,tRenal arteriole medial atrophy-uArcuate vein medial hypertrophy)vArcuate vein medial atrophy7w)Cortical radial artery medial hypertrophy3x%Cortical radial artery medial atrophy>y0Cortical radial artery medial/intimal arteriitis5z'Arcuate artery intima/media amyloidosis1{#Arcuate artery intimal mucoid edema2|$Medial/intimal arcuate venosclerosis.} Arcuate intimal/medial venulitis0~"Renal arteriole medial hypertrophy7)obsolete Medial/intimal arcuate venulitis}H:Renal arteriole intima/media storage material accumulation;-Renal arteriole endoarterial hypercellularityF8Renal arteriole leukocytic endoarterial hypercellularityE7Renal arteriole foam cell endoarterial hypercellularityF8Renal arteriole neutrophil endoarterial hypercellularityF8Renal arteriole lymphocyte endoarterial hypercellularity=/Renal arteriole intimal/medial multilamellationD6Arcuate artery endoarterial leukocyte hypercellularityD6Arcuate artery endoarterial foam cell hypercellularityE7Arcuate artery endoarterial neutrophil hypercellularityE7Arcuate artery endoarterial lymphocyte hypercellularity2$Arcuate artery intima/media necrosis>0Arcuate artery intima/media coagulative necrosis?1Arcuate artery intima/media liquefactive necrosisG9Arcuate vein intimal/medial storage material accumulation:,Cortical radial artery intima/media necrosisG9Cortical radial artery intima/media liquefactive necrosisF8Cortical radial artery intima/media coagulative necrosis3%Renal arteriole intima/media necrosis@2Renal arteriole intima/media liquefactive necrosis?1Renal arteriole intima/media coagulative necrosisG9Granulomatous arteriolitis of the arteriolar intima/media2$Arcuate vein medial/intimal necrosis>0Arcuate vein medial/intimal coagulative necrosis?1Arcuate vein medial/intimal liquefactive necrosis<.Arcuate intimal/medial granulomatous venulitis<.Arcuate vein intima/media crystal accumulation?1Renal arteriole intima/media crystal accumulation4&Arcuate artery intima/media arteriitisB4Arcuate artery intima/media granulomatous arteriitis9+Cortical radial artery intraluminal thrombiC5Cortical radial artery intraluminal organized thrombiD6Abnormal cortical radial artery endothelium morphology2$Cortical radial artery endotheliosis5'Cortical radial artery hypercellularity?1Cortical radial artery leukocyte hypercellularity@2Cortical radial artery lymphocyte hypercellularity@2Cortical radial artery neutrophil hypercellularity?1Cortical radial artery foam cell hypercellularityB4Cortical radial artery intima/media arteriosclerosis9+Cortical radial artery intimal mucoid edemaB4Cortical radial artery intima/media multilamellationL>Cortical radial artery medial/intimal granulomatous arteriitis@2Abnormal interlobular vein intima/media morphology5'Interlobular intima/media venosclerosis4&Interlobular vein intimal mucoid edema8*Interlobular vein intima/media amyloidosis6(Interlobular vein intima/media venulitisD6Interlobular vein intima/media granulomatous venulitis5'Interlobular vein intima/media necrosisB4Interlobular vein intima/media liquefactive necrosisA3Interlobular vein intima/media coagulative necrosis. Interlobular vein medial atrophy2$Interlobular vein medial hypertrophy=/Interlobular vein intima/media multilamellation&Absent second fingernailVolar fingernail Talar aplasia4&Reduced beta-hexosaminidase B activity/!Excessive dynamic airway collapse%Paroxysmal tonic upgaze)Vertebral artery tortuosity&Celiac artery dissectionE7Decreased circulating apolipoprotein C-II concentration@2Increased urinary 8-oxo-7,8-dihydroguanosine level$Elongated femoral neck(Tortuous lymphatic vessels,Phosphaturic mesenchymal tumor#Amygdala microinfarct&Hippocampal microinfarct1#Cartilaginous tracheobronchomalacia Vasa previa'Chronotropic incompetence Viral encephalitis0"Dependency on parenteral nutrition$Microvillus inclusions9+Microvillar PAS-positive secretory granules5'Perinuclear cardiomyocyte vacuolization%Single-lobed right lung"Bronchial hemorrhage!Tracheal hemorrhage:,Anti-Complement factor H antibody positivity@2Anti-phospholipase A2 receptor antibody positivity"Broad medial eyebrowParosmia. Decreased dendritic spine numberRDDecreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio2$Posterior atrophy of corpus callosum%Opto-chiasmatic atrophy Pelvic lipomatosis?1Increased megakaryocyte colony forming unit count0"Reduced progressive sperm motility'Palmoplantar hypohidrosis-Curvilinear pericallosal lipoma/!Tubulonodular pericallosal lipoma)Cavitating pulmonary nodule*Anti-HLA antibody positivity2$Anti-class I HLA antibody positivity3%Anti-class II HLA antibody positivity,Anti-HLA-A antibody positivity1#Anti-HLA-A IgG1 antibody positivity1#Anti-HLA-A IgG3 antibody positivity,Anti-HLA-B antibody positivity1#Anti-HLA-B IgG1 antibody positivity1#Anti-HLA-B IgG3 antibody positivity5'Abnormal circulating GABA concentration=/Elevated circulating saccharopine concentrationA3Abnormal urinary non-proteinogenic amino acid levelSaccharopinuria Hepatic foam cells Lip cyanosisFacial cyanosisCentral cyanosis!Peripheral cyanosis#Differential cyanosis Pharyngeal exudate'Pseudo-chilblains on toes*Pseudo-chilblains on fingersSilent hypoxemia!Ventricular couplet3%Bidirectional ventricular tachycardia)obsolete Ventricular ectopyDorsal hirsutism'Increased fecal bile acidTrident pelvis%Angulated muscle fibers#Mandibular osteolysisRib osteolysisG9Decreased circulating chenodeoxycholic acid concentration5'Elevated urinary prostaglandin E2 level@2Elevated urinary prostaglandin E2 metabolite level@2Hypoplastic anterior limbs of the internal capsule*Impaired toe-walking ability0"Decreased acid ceramidase activityProbst bundlesA3Anti-side-chain cleavage enzyme antibody positivity0"Increased fecal calprotectin level Fetal anomaly' Abnormal fetal morphology' Abnormal fetal physiology. Triggered by fava bean ingestionB 4Anti-steroid 17alpha-hydroxylase antibody positivity. Anti-insulin antibody positivity6(Anti-islet antigen-2 antibody positivity7)Anti-salivary protein antibody positivity9+Anti-Zinc transporter 8 antibody positivity<.Anti-carbonic anhydrase VI antibody positivity#Tonofilament clumpingB4Anti-plasminogen binding peptide antibody positivity@2Anti-parotid secretory protein antibody positivity1#Anti-enterocyte antibody positivity5'Anti-21-hydroxylase antibody positivity3%Abnormal fetal long-bone echogenicity2$Reduced fetal long bone echogenicity4&Increased fetal long bone echogenicityB4Decreased circulating apolipoprotein B concentration2$Anti-ribosome Po antibody positivity?1Anti-complement component C1q antibody positivity;-Anti-centromere protein A antibody positivity;-Anti-centromere protein B antibody positivity- Anti-U3 RNP antibody positivity,!Anti-Th/To antibody positivity2"$Anti-bicaudal D2 antibody positivityB#4Anti-nucleolus-organizing region antibody positivity@$2Anti-phosphatidyl ethanolamine antibody positivity0%"Anti-PM-Scl100 antibody positivity/&!Anti-PM-Scl75 antibody positivity2'$Anti-U11/U12 RNP antibody positivity)(Anti-Ku antibody positivity*)Anti-B23 antibody positivity/*!Anti-RuvBL1/2 antibody positivity:+,Anti-platelet derived growth factor receptorC,5Anti-cyclic citrullinated peptide antibody positivity2-$Anti-Ro52/TRIM21 antibody positivityB.4Anti-angiotensin receptor type-1 antibody positivityC/5Anti-endothelin-1 type A receptor antibody positivity80*Anti-phosphatidic acid antibody positivity;1-Anti-phosphatidyl choline antibody positivity<2.Anti-phosphatidyl glycerol antibody positivity<3.Anti-phosphatidyl inositol antibody positivity:4,Anti-phosphatidyl serine antibody positivity05"Anti-annexin-V antibody positivity36%Anti-sphingolipid antibody positivity*7Anti-GM1 antibody positivity:8,Anti-neutrophil elastase antibody positivityO9AAnti-transcription intermediary factor-1gamma antibody positivity=:/Anti-Su antigen/argonaute 2 antibody positivity*;Anti-p53 antibody positivity6<(Anti-Y-box protein-1 antibody positivity,=Anti-GW182 antibody positivity:>,Anti-Gerbich phenotype 1 antibody positivity+?Anti-MIT3 antibody positivity.@ Anti-GM1 IgG antibody positivityNA@obsolete Anti-type I liver-kidney microsomal antibody positivityx3B%Anti-hexokinase-1 antibody positivity<C.Anti-Kelch like protein 12 antibody positivity9D+obsolete Anti-thyrotropin receptor antibodyFE8Anti-angiotensin-converting enzyme 2 antibody positivity.F Anti-GM1 IgM antibody positivity/G!Anti-GD1a IgG antibody positivity/H!Anti-GD1a IgM antibody positivity+IAnti-GD1a antibody positivity+JAnti-GQ1b antibody positivity/K!Anti-GQ1b IgM antibody positivity+LAnti-GD1b antibody positivity/M!Anti-GD1b IgM antibody positivity/N!Anti-GD1b IgG antibody positivity/O!Anti-GQ1b IgG antibody positivity+PAnti-GT1a antibody positivity/Q!Anti-GT1a IgM antibody positivity/R!Anti-GT1a IgG antibody positivity+SAnti-GT1b antibody positivity*TAnti-GM2 antibody positivity*UAnti-GM3 antibody positivity*VAnti-GM4 antibody positivity6W(Anti-neurofascin-155 antibody positivity6X(Anti-neurofascin 186 antibody positivity2Y$Anti-contactin-1 antibody positivityEZ7Anti-contactin-associated protein 1 antibody positivity=[/Anti-SUMO-activating enzyme antibody positivityG\9Anti-SUMO-activating enzyme subunit 1 antibody positivityG]9Anti-SUMO-activating enzyme subunit 2 antibody positivity?^1Anti-nuclear matrix protein-2 antibody positivity?_1Anti-threonyl-tRNA synthetase antibody positivity5`'Anti-hY-RNA complex antibody positivity=a/Anti-alanyl-tRNA synthetase antibody positivity=b/Anti-glycyl tRNA-synthetase antibody positivity@c2Anti-aminoacyl-tRNA synthetase antibody positivity@d2Anti-isoleucyl tRNA-synthetase antibody positivityCe5Anti-phenylalanyl tRNA synthetase antibody positivity>f0Anti-tyrosyl-tRNA synthetase antibody positivityBg4Anti-asparaginyl-tRNA synthetase antibody positivity?h1Anti-histidyl tRNA synthetase antibody positivityBi4Anti-cytosolic-5-nucleotidase-1A antibody positivity)jAnti-Ki antibody positivity,kAnti-sp100 antibody positivity@l2Anti-beta-2-Glycoprotein I IgG antibody positivity@m2Anti-beta-2-Glycoprotein I IgM antibody positivityUnGAnti-tyrosine phosphatase region of islet antigen-2 antibody positivity#oPaget disease of bone>p0Abnormal circulating interleukin 9 concentration=q/Reduced circulating interleukin 9 concentration?r1Abnormal circulating interleukin 10 concentration>s0Reduced circulating interleukin 10 concentration?t1Abnormal circulating interleukin 21 concentration>u0Reduced circulating interleukin 21 concentration@v2Increased circulating interleukin 21 concentration?w1Abnormal circulating interleukin 22 concentration>x0Reduced circulating interleukin 22 concentration@y2Increased circulating interleukin 22 concentration?z1Abnormal circulating interleukin 23 concentration>{0Reduced circulating interleukin 23 concentration@|2Increased circulating interleukin 23 concentration?}1Abnormal circulating interleukin 27 concentration>~0Reduced circulating interleukin 27 concentration@2Increased circulating interleukin 27 concentration@2Abnormal circulating interleukin 17A concentration?1Reduced circulating interleukin 17A concentrationA3Increased circulating interleukin 17A concentration'Vertebral artery aneurysm/!Fusion of the caudate and putamen-Aplasia/Hypoplasia of the liver+Segmental hypoplasia of liverSpastic triplegiadVIncreased insulin like growth factor binding protein acid labile subunit concentration$Median pseudocleft lip Patella alta'Clavicular pseudarthrosis Midline liverK=Anti-thyroid-stimulating hormone receptor antibody positivity6(Abnormal fetal cardiovascular physiologyJ0Abnormal fetal central nervous system morphology?1Abnormal fetal gastrointestinal system morphology+Fetal intracranial hemorrhage+Fetal subependymal hemorrhage/!Fetal intraventricular hemorrhage3%Fetal cerebral parenchymal hemorrhage*Fetal extra-axial hemorrhage. Fetal posterior fossa hemorrhageH:Fetal intraventricular hemorrhage without ventriculomegaly4&Fetal cerebellar hemisphere hemorrhage0"Fetal cerebellar vermis hemorrhage6(Sonographic non-visualized fetal bladderE7Fetal intraventricular hemorrhage with ventriculomegalyOAFetal intraventricular hemorrhage with periventricular hemorrhage*Temporal lobe megalencephaly/!Abnormal temporal lobe morphology%Temporal lobe dysplasia3%Elevated umbilical artery pulsatility8*Absent end-diastolic umbilical artery flow:,Reversed end-diastolic umbilical artery flow!Champagne cork sign'Aortic isthmus hypoplasia-Proximal aortic arch hypoplasia+Distal aortic arch hypoplasia2$Inferior crossed fused renal ectopiaSigmoid kidney$Unilateral lump kidney Disc kidneyL-shaped kidney2$Superior crossed-fused renal ectopia"Apnea of prematurity%Open neural tube defect'Closed neural tube defect#Renal vein thrombosisFetal neck massPrenatal death<.Abnormal fetal genitourinary system morphology1#Abnormal fetal pulmonary morphology Gastric pseudomass Fetal head anomalyFetal scalp mass3%Fetal lower urinary tract obstruction/!Increased fetal lens echogenicity(Severe influenza infection Fetal nuchal edema%Abnormal corneal reflex#Absent corneal reflex2$Eosinophil nuclear hypersegmentation*Face of the giant panda sign!Colovesical fistula2$Absent dermoepidermal hemidesmosomes,C4 nephritic factor positivity0"Aplasia/Hypoplasia of the midbrain(Hypoplasia of the midbrain%Aplastic zygomatic arch0"Aplasia/Hypoplasia of facial bones Absent lanugo'Abnormal vaginal bleeding)Postcoital vaginal bleeding Mastalgia)Vaginal bleeding during sex Pelvic pain)Abnormal vaginal physiology(Abnormal vaginal dischargeSerrated incisors!Copper beaten skull-Perifoveal hypoautofluorescence&Premature sagging cheeks$Gastrointestinal ulcer'Verrucous epidermal nevus:,Elevated circulating thymidine concentration=/Elevated circulating deoxyuridine concentration)Multinucleated erythroblast/!2,8-dihydroxyadenine crystalluria Target cells. Phalangeal cone-shaped epiphyses'Subcutaneous ossification:,Increased fecal protoporphyrin concentration"Recurrent gingivitis&Enteroviral encephalitis,Pneumocystis carinii pneumoniaAfibrinogenemia;-Elevated circulating reverse T3 concentration/!Elevated circulating rT3/T3 ratio>0Elevated circulating tiglylglycine concentration9+Elevated circulating creatine concentration8*Reduced circulating creatine concentration)Temporal lobe calcificationDuctal bile plugs2$Reduced cerebral white matter volume>0Elevated urine 3,5,6-trichloro-2-pyridinol levelC5Elevated circulating tetracosanoic acid concentrationB4Elevated circulating hexacosanoic acid concentration)Sertoli cell-only phenotype6(Decreased acid sphingomyelinase activity$Congenital pouch colon MegalopapillaNotched T wave Epsilon wave(2:1 atrioventricular block"Ventricular bigeminy>0Elevated left ventricular end-diastolic diameterProlonged P wave(Multiflagellar spermatozoa+Post-vaccination yellow fever&Hypoplastic optic chiasm!Nocturnal hypoxemia= /Hyperdynamic left ventricular ejection fraction9 +Abnormal left ventricular ejection fraction Chronic cough< .Thinning of the substantia nigra pars compacta% Unusual viral infection(Unusual virus reactivationH:CNS vasculitis with reactivation of varicella-zoster virusE7Muscle fiber intracytoplasmic reducing inclusion bodiesE7Elevated circulating guanidinoacetic acid concentration:,Reduced tissue galactocerebrosidase activity>0Reduced circulating growth hormone concentration-Brachiocephalic artery aneurysm,Common carotid artery aneurysm AdenomyosisH:Posterior corneal stroma punctiform multicolored opacities1#Fibro-obliterative bile-duct lesion'Dysplastic megalencephaly4&Regional right ventricular hypokinesisMcConnell sign"Cognitive regression>0Increased circulating hypoxanthine concentration#Inheritance qualifier Splenic infarction!!Claw hand deformity" Imprinted)#Pseudoautosomal inheritance2$$Pseudoautosomal dominant inheritance3%%Pseudoautosomal recessive inheritance&&Trapezius muscle aplasia%'Requires heterozygosity'(Female-limited expression#)Mendelian inheritance*Nesidioblastosis0+"Greater auricular nerve thickening#,Subpulmonary stenosis,-Supravalvar pulmonary stenosis).Valvular pulmonary stenosis/ Neuromyotonia0Bile duct polyp%1Appendicular spasticity2 Trichoschisis#3White cerebellum signQ4CImpaired renal tubular reabsorption of low molecular weight protein<5.Impaired renal tubular reabsorption of glucose;6-Impaired renal tubular reabsorption of sodium>70Impaired renal tubular reabsorption of phosphate8Action myoclonus&9Redundant umbilical skin :Dull foveal reflex;Corneal pterygiumD<6Fibrofatty replacement of right ventricular myocardiumO=AElevated circulating alpha-aminoadipic semialdehyde concentration>Fracture blister=?/Decreased circulating beta-mannosidase activity@ Urolithiasis@A2Decreased level of coenzyme Q10 in skeletal muscle=B/Abnormal muscle tissue metabolite concentration=C/Reduced circulating prekallikrein concentration%DInternal tibial torsion%EExternal tibial torsion FTrident acetabulumG Spherophakia2H$Atrioventricular valve regurgitation9I+Single atrioventricular valve regurgitation&JUrethrovesical occlusionHK:obsolete Vascular granular osmiophilic material depositionI;L-Juvenile type testicular granulosa cell tumor4M&Central nervous system axonal spheroidNDisease remission;O-Elevated circulating biliverdin concentration:P,Elevated circulating insulin:C-peptide ratio<Q.Abnormal left ventricular endsystolic diameter;R-Reduced left ventricular endsystolic diameter$SBacterial encephalitis*THilar lymph node enlargement"UPulmonary vein varix1V#Decreased CSF glycine concentrationWElbow contractureXJoint contracture)YElbow extension contracture,ZForearm supination contracture+[Forearm pronation contracture%\Hippocampal malrotation ]Claw toe deformity^ Toe deformity5_'Prolonged central motor conduction time9`+Circumferential skin creases on extremities.a Atypical teratoid/rhabdoid tumor*bRhabdoid tumor of the kidney<c.Subcutaneous panniculitis-like T-cell lymphoma%dFungal hyphae in sputumeEnlarged tectumFf8Elevated CSF angiotensin-converting enzyme concentrationGg9Reduced circulating 3-ketoacyl-CoA thiolase concentration$hSolitary angiokeratoma#iFordyce angiokeratoma5j'Angiokeratoma circumscriptum naeviforme&kAngiokeratoma of MibellilLaryngeal massm Palate mass!nThick oral frenulumoTooth avulsion pTorn oral frenulum"qIntraoral laceration&rErythematous oral mucosa-sMitral chordae tendinae rupture1t#History of cardiovascular procedureuEjection click vCryofibrinogenemia$wtriggered by allergensxClicking tinnitus)yReduced hair sulfur contentz Chromhidrosis${Purulent eye discharge|Megaloblepharon-}Bacteria in cerebrospinal fluid'~Abnormal joint physiologyJoint crepitus)Intertriginous distribution2$Distributed along skin tension lines$Abnormal communication"Abnormal eye contactGaze avoidance#Excessive eye contact BalanitisInstep location7)Ameliorated by ultraviolet light exposure?1Decreased circulating aspartic acid concentration?1Abnormal circulating erythropoietin concentration>0Reduced circulating erythropoietin concentration6(Abnormal gamma-glutamyltransferase level5'Reduced gamma-glutamyltransferase level:,Elevated circulating histamine concentration@2Increased circulating interleukin 18 concentration9+Abnormal phytanic acid:pristanic acid ratio:,Increased phytanic acid:pristanic acid ratio:,Decreased phytanic acid:pristanic acid ratio"Rectovesical fistula#Rectoureteral fistula#Hypoplastic umbilicus#Arachnoid granulation1#Increased CSF taurine concentration<.Elevated circulating glutathione concentration Hawkinsinuria7)Elevated urinary phenylpyruvic acid level,Ameliorated by lumbar puncture0"Increased CSF uracil concentration-Elevated urine kynurenine level:,Increased CSF L-alloisoleucine concentrationHydroxylysinemiaHomocitrullinuria&2-hydroxyadipic aciduriaHomoargininuria. Increased urinary cysteine levelGastric xanthoma,Decreased stool elastase level-Elevated stool chloride contentG9Increased fecal coproporphyrin III:coproporphyrin I ratio. Increased fecal harderoporphyrin4&Increased fecal heptacarboxylporphyrin4&Increased fecal pentacarboxylporphyrin/!Increased fecal isocoproporphyrin7)Positive fecal Clostridium botulinum test#Perihepatic adhesions"Dilated vas deferens!Enlarged epididymis!Absent epididymidisAtypical gestures-Abnormal spinal cord physiology0"Bone marrow vacuolated lymphocytes(Spinal cord calcifications"Neuroepithelial cyst=/Reduced circulating interleukin 7 concentration@2Increased circulating interleukin 12 concentration@2Increased circulating interleukin 13 concentration?1Increased circulating interleukin 2 concentration?1Increased circulating interleukin 4 concentration?1Increased circulating interleukin 5 concentration Salpingitis"Tubo-ovarian abscess)Opacified paranasal sinuses3%Elevated brain glutamine level by MRS3%Abnormal brain glutamine level by MRS3%Increased urinary hexanoic acid level/!Hepatic focal nodular hyperplasia(Increased bone marrow ironGlenoid fracture!Widened mediastinum Narrow mediastinumOvarian torsion!Septate gallbladder)Gallbladder wall thickening%Gallbladder enlargementGallbladder mass Fingerprint bodiesSpheroid bodies=/Abnormal muscle tissue enzyme activity or level/!Reduced muscle aconitase activity7)Transitional-cell carcinoma of the ureterB4Increased circulating Interferon-alpha concentrationLiver hamartoma Ameloblastoma+Ameliorated by ketogenic diet)Pretibial hyperpigmentation Gingival fragility:,Muscle fiber fuchsinophilic inclusion bodies6(Esophageal myenteric plexus degeneration*Periorificial hyperkeratosis2$Eosinophilic lymph node infiltrationBlood parasite)Bloodstream trypomastigotes Adamantinoma7)Abnormal enzyme activity in muscle tissue=/Reduced muscle phosphoglycerate kinase activity?1Reduced fibroblast type III procollagen synthesis<.Reduced muscle myoadenylate deaminase activityBent long boneTracheal rupture3%Increased myocardial glycogen content6(Triggered by monoamine oxidase inhibitor7)Triggered by serotonin reuptake inhibitor*Ameliorated by acetazolamide3%Ameliorated by exposure to medication(Ameliorated by vitamin B12%Ameliorated by thiamine'Ameliorated by dantrolene#Ameliorated by biotin4&Reduced bone-marrow megakaryocyte size2$Hairshafts with longitudinal grooves&Mycobacterium bacteremiaB4Decreased delta-aminolevulinate dehydratase activityRDElevated circulating pancreatic secretory trypsin inhibitor activity4&Presence of uterus in 46,XY individual1#Intraluminal meconium calcification$Portal vein hypoplasiaAdrenal leiomyoma;-Small intestinal lymphoplasmacytic infiltrate1#Triggered by neuroleptic medication-Abnormal peroxisomal morphology$Absence of peroxisomes$Paucity of peroxisomes=/Reduced sulfide:quinone oxidoreductase activity(Deficit at segmental levelRhabdoid tumor)Rhabdoid tumor of the ovary$Cardiac rhabdoid tumor5'Malignant rhabdoid tumor of the bladder/!Malignant rhabdoid tumor of liver0"Malignant rhabdoid tumor of muscle Neck teratomaKidney teratomaL>Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level7)Aplasia of posterior communicating artery Optic pit%Ameliorated by naloxone0 "Ameliorated by pyridoxal phosphate3 %Thickened intrahepatic portal venules Ovarian fibrosis" Pigment incontinence3 %Abnormal epidermal protein expression=/Reduced epidermal keratin 10 protein expression>0Reduced epidermal collagen IV protein expressionOAReduced epidermal bullous pemphigoid antigen 1 protein expression?1Reduced epidermal collagen VII protein expression@2Reduced epidermal collagen XVII protein expressionG9Reduced epidermal integrin alpha6beta4 protein expression:,Reduced epidermal plectin protein expression+Bloodstream Trypanosoma cruzi2$Abnormal lymph node cell composition0"Lipid-laden lymph node macrophages3%Abnormal pancreatic acinus morphology'Cochlear nerve hypoplasiaGlutathionuria Nevus psiloliparusCrypt hyperplasiaPBIncreased circulating dehydroepiandrosterone-sulfate concentrationK=Abnormal circulating thyroxine-binding globulin concentrationL>Decreased circulating thyroxine-binding globulin concentrationJ !0Elevated circulating dihydrouracil concentration?"1Elevated circulating dihydrothymine concentrationI#;Elevated circulating N-carbamoyl-beta-alanine concentrationE$7Elevated ciculating 5-hydroxymethyluracil concentration4%&Decreased CSF creatinine concentration-&Elevated urinary creatine level8'*Decreased circulating biotin concentration?(1Elevated circulating thrombopoietin concentration5)'Decreased circulating C1q concentrationE*7Decreased circulating apolipoprotein A-II concentration7+)Elevated circulating CA19-9 concentration5,'Elevated circulating DOPA concentration--Elevated CSF DOPA concentration:.,Elevated circulating porphyrin concentrationH/:Decreased circulating 17-hydroxyprogesterone concentrationC05Decreased circulating transcobalamin II concentration1 Polychromasia>20Decreased circulating myo-inositol concentration;3-Elevated circulating arabinitol concentration+4Elevated urine arabitol level-5Elevated urine erythritol level;6-Elevated circulating erythritol concentrationJ7Adrenal xanthomatosis#?Splenic xanthomatosis'@Spinal cord xanthomatosis!ABrain xanthomatosis%BPulmonary xanthomatosis'CBone marrow xanthomatosis&DLymph node xanthomatosisEXanthoma of bone)FAmeliorated by folinic acid5G'Triggered by succinylcholine anesthetic)HExogenous androgen exposure-IReduced muscle enolase activity*JDopamine antagonist exposure>K0Muscle fiber granulofilamentous inclusion bodies/L!Bone marrow myeloid vacuolization"MPulmonary cylindroma-NColonic fibrinopurulent exudate&OBloodstream microfilaria#PSkin infectious agent!QDermal microfilaria-RDermal papillary IgA deposition.S Dermal immune complex deposition5T'Abnormal liver metabolite concentration/U!Hepatic polyglucosan accumulation*VUrinary bladder neurofibroma WSynovial granuloma/X!Elevated urine fumaric acid level8Y*Elevated urine N-acetylaspartic acid level1Z#Elevated urine suberylglycine level9[+Elevated urine phenylpropionylglycine level3\%Elevated urine octenedioic acid level%]Monocarboxylic aciduria0^"Elevated urine octanoic acid level2_$Elevated urine glutaconic acid level4`&Elevated urine 3-hydroxyglutaric level/a!Elevated urine malonic acid level3b%Elevated urine propionylglycine level0c"Elevated urine tiglylglycine level;d-Elevated urine 2-methylacetoacetic acid level:e,Elevated urine 3-hydroxypropionic acid level6f(Elevated urine 2-methylcitric acid level;g-Elevated urine 4-hydroxyisovaleric acid levelAh3Elevated urine 2-hydroxy-3-methylvaleric acid level"iShoulder contracture,jShoulder extension contracture)kThumb extension contracturel Tongue myxoma&mAbnormal knee morphology&nAbnormal knee physiologyoKnee contracture(pKnee extension contracture'qAbnormal ankle morphology'rAbnormal ankle physiology#sToe joint contracture*tExtension contracture of toeuAnkle contracture,vForefoot pronation contracture-wForefoot supination contracture,xForefoot adduction contracture&yFinger joint contracture-zExtension contracture of finger-{Reduced muscle telethonin level7|)Abnormal enzyme concentration or activity=}/Abnormal liver enzyme activity or concentration0~"Reduced hepatic urocanase activity5'Impaired cerebroside sulfate hydrolysis?1Reduced peroxisomal glutaryl-CoA oxidase activity4&Reduced sterol 27-hydroxylase activityA3Reduced short-chain acyl-CoA dehydrogenase activity?1Reduced 3-phosphoglycerate dehydrogenase activity$Elongated mitochondriaE7Reduced hepatic methionine adenosyltransferase activity7)Substantia nigra dopaminergic neuron loss"Intramuscular lipoma&Cutaneous telangiectasia)Abnormal aromatase activity)Elevated aromatase activity(Reduced aromatase activity!Corneal amyloidosis. Abnormal keratinocyte morphology(Keratinocyte vacuolization*Parotid gland adenocarcinoma"Pulmonary vasculitis9+Reduced hepatic D-glycerate kinase activity)Lymph-node hemophagocytosis-Superior pubic ramus hypoplasia"Uterine adenofibroma!Pulmonary hamartoma*Peripheral axonal distension>0Decreased circulating alpha-mannosidase activity,Abnormal hepatocyte morphology9+Hepatic melanin-like lysosomal pigmentation=/Reduced uroporphyrinogen decarboxylase activity-Reduced heme oxygenase activity?1Swollen achromatic neurons in the cerebral cortex$Vacuolated hepatocytes1#Lack of oocyte pronucleus formation/!Self-healing squamous epithelioma?1Elevated circulating pristanic acid concentration!Sarcoplasmic bodies7)Elevated CSF hydroxyproline concentration/!Reduced CSF cystine concentration<.Abnormal circulating beta-mannosidase activity<.Elevated circulating beta-mannosidase activity=/Reduced circulating alpha-L-fucosidase activity>0Abnormal circulating alpha-L-fucosidase activity>0Elevated circulating alpha-L-fucosidase activityJ0Elevated CSF argininosuccinic acid concentration<.Elevated CSF aspartylglucosamine concentrationE7Elevated circulating alpha-oxoadipic acid concentration;-Abnormal erythrocyte metabolite concentration;-Reduced erythrocyte glutathione concentration2$Elevated CSF sarcosine concentration2$Reduced CSF methionine concentration=/Elevated circulating homoarginine concentration;-Elevated urinary formiminoglutamic acid level0"Elevated CSF proline concentration4&Elevated urinary S-sulfocysteine level@2Elevated circulating S-sulfocysteine concentration&Sertoli cell hyperplasia"CSF infectious agentCSF mycobacteria*Fungal bloodstream infection-Supraclavicular lymphadenopathy&Inguinal lymphadenopathy&Axillary lymphadenopathy"Positive Murphy signBilious emesis"Ameliorated by NSAID$Fetal exposure history(Fetal barbiturate exposure%Fetal narcotic exposure)Ameliorated by ethosuximideQCReduced epidermal extracellular matrix protein 1 protein expression1#Neurofibroma by anatomical location!Tongue neurofibroma"Cardiac neurofibroma"Gastric neurofibroma Renal neurofibroma8*Muscle fiber polyglucosan inclusion bodies,Abnormal rete ridge morphology#Rete ridge elongation5'Pulmonary Langerhans cell histiocytosis!Lumbar hypolordosis Battle sign)Decreased skull base length Oscillopsia"Decreased blink rate!Abnormal blink rate!Elevated blink ratePurulent sputum&Maternal hyperthyroidismPerineal!Gadolinium exposure-Purulent parotid gland drainage Obstipation Posttussive emesis+Vasculitis by anatomical site%Vasculitis by histology)Leukocytoclastic vasculitisG9Accumulation of lipid droplets in small-bowel enterocytes&Pericardial friction rub!Muscular vasculitis>0Abnormal muscle succinate dehydrogenase staining?1Increased muscle succinate dehydrogenase staining?1Decreased muscle succinate dehydrogenase staining(Small intestinal hamartoma!Pyriform sperm head4&Excess residual spermatozoal cytoplasm*Cardiomyocyte hyaline bodies&Hepatic hemophagocytosis"CSF hemophagocytosis&Splenic hemophagocytosis,Urinary bladder granulomatosis Epidermal necrosis$Exacerbated by flexion Hemolacria,Corneal foreign body sensation Buttock pain,Vaginal foreign body sensation*Paroxysmal nocturnal dyspnea Eyelid pain'Abnormal sperm physiology"Small acrosomal area!Bent sperm flagella!Spermiation failure!Hypospermatogenesis#Conjunctival membrane%Extreme oligozoospermia"Mild oligozoospermia&Moderate oligozoospermia$Severe oligozoospermia Iris noduleKoeppe nodulesBussaca nodules,Abnormal CSF ion concentration0"Decreased CSF copper concentration4&Diffuse pulmonary lymphoid hyperplasia/ !Ameliorated by steroid medication. Triggered by medication exposure0 "Triggered by levothyroxin exposure; -Reduced muscle laminin alpha-2 chain staining( Adrenal cortical sclerosisF8Reduced hepatic fructose-1,6-phosphate aldolase activity"Pancreatic hamartoma"Liver angiomyolipomaCardiac lipoma<.Peripheral nerve polyglucosan inclusion bodies/!Cardiac polyglucosan accumulationCystic nephroma*Absent dermal elastic fibersL>Cleavage at junction of stratum corneum and stratum granulosum"Lymphoid hyperplasia2$Absence of epidermal lamellar bodies-Gastrointestinal granulomatosis)Enlarged sperm head vacuole Ureteral hamartoma(Fetal methimazole exposure)Fetal procarbazine exposure)Fetal fluorouracil exposure'Fetal cytarabine exposure) Fetal tetracycline exposure$!Fetal quinine exposure-"Fetal cyclophosphamide exposure*#Fetal metronidazole exposure*$Fetal phenobarbital exposure&%Fetal phenytoin exposure& Periumbilical/'!Maternal obesity during pregnancy$(Maternal amniocentesis6)(Typified by highly variable age of onsetA*3Abnormal leukocyte enzyme concentration or activity8+*Reduced tissue beta-glucuronidase activity;,-Reduced leukocyte alpha-L-fucosidase activity8-*Reduced leukocyte arylsulfatase B activity:.,Reduced leukocyte steroid sulfatase activity8/*Reduced leukocyte arylsulfatase A activity60(Decreased alpha-galactosidase A activity*1Positive fecal parasite test22$Positive stool infectious agent test,3Positive stool giardia antigen>40Entamoeba histolytica antibody positive in stool>50Reduced erythrocyte free porphyrin concentration=6/Reduced circulating urocanic acid concentration17#Decreased urinary epinephrine level58'Decreased CSF epinephrine concentration=9/Decreased circulating epinephrine concentration@:2Decreased circulating norepinephrine concentration4;&Decreased urinary norepinephrine level5<'Decreased urinary metaepinephrine level6=(Decreased CSF metanephrine concentration>>0Decreased circulating metanephrine concentration? Ovarian mass@ Adrenal massA Uterine mass BProstatic calculus,CDecreased portal vein velocity!DUterine cervix mass/E!Abnormal urinary uromodulin level0F"Decreased urinary uromodulin level9G+Increased urine phenylacetylglutamine level8H*Decreased urine guanidinoacetic acid level?I1Positive urine infectious agent nucleic acid test2J$Positive CMV urine nucleic acid testDK6Positive Neisseria gonorrhoeae urine nucleic acid test:L,Positive enterovirus urine nucleic acid test1M#Elevated brain glycine level by MRS4N&Elevated brain polyol compounds by MRS;O-Elevated brain gamma-aminobutyric acid by MRS7P)History of recent anticoagulant ingestionFQ8Decreased circulating antidiuretic hormone concentrationQRCElevated circulating growth hormone-releasing hormone concentration;S-Abnormal amniotic fluid protein concentrationFT8Decreased amniotic fluid alpha-fetoprotein concentration;U-Increased circulating vitamin E concentration;V-Abnormal circulating calcitonin concentration<W.Decreased circulating calcitonin concentrationOXADecreased circulating thyrotropin releasing hormone concentration=Y/Elevated circulating uroporphyrin concentration:Z,Increased urine pentacarboxylporphyrin level9[+Increased urine hexacarboxylporphyrin levelH\:Increased circulating dehydroepiandrosterone concentration@]2Increased erythrocyte coproporphyrin concentrationA^3Increased erythrocyte uroproporphyrin concentrationB_4Decreased circulating apolipoprotein E concentrationA`3Elevated circulating apolipoprotein E concentration"aAcrosomal hypoplasia&bOocyte maturation arrest&cAbnormal anus morphology&dAbnormal anus physiology&eWeak anal sphincter tone?f1Reduced muscle 2,4-dienoyl-CoA reductase activity>g0Reduced liver 2,4-dienoyl-CoA reductase activity%hNasal mucosa vasculitis iPituitary blastoma0j"Peripheral axon spheroid formation7k)Reduced liver carboxylesterase 1 activity(lAbnormal dermis morphology4m&Perivascular dermis hyaline deposition>n0Perivascular small intestinal hyaline deposition*oLarge keratohyaline granules2p$Decreased muscle lipoic acid content@q2Reduced hepatic cystathionine gamma-lyase activity'rDigestive system neoplasm sLumbar spondylosis9t+Decreased circulating acid maltase activityBu4obsolete Increased circulating ribitol concentrationcEv7Abnormal circulating 7-dehydrocholesterol concentrationFw8Decreased circulating 7-dehydrocholesterol concentration<x.Elevated circulating lathosterol concentration<y.Elevated circulating desmosterol concentration=z/Decreased circulating sialic acid concentration%{Purulent synovial fluidF|8Muscle fiber calsequestrin 1-containing inclusion bodies}Palatine myxoma~Vaginal myxoma'Decreased dermal collagen7)Irregularly shaped keratohyaline granulesTubular shadows*Multiple eyelid margin cystsOAAltered location of the longitudinal column in the fibrous sheathUterine myxoma#Uterine cervix myxoma-Typified by complete penetrance Osteochondromyxoma Gangliocytoma!Duodenal gastrinoma$Thymic carcinoid tumor&Bone marrow eosinophilia-Exacerbated by lithium exposureA3Reduced hepatic glycogen debrancher enzyme activityB4Asymmetrical insertion of the midpiece into the headBent sperm neck=/Elevated urine 3,6-epoxydicarboxylic acid level*Gallbladder biliary sludging0"Exacerbated by amiodarone exposure Ureteral mass*Wide cavum septum pellucidum)Hypoplastic trochlear nerve Thymic cyst Uterine cyst"Urinary bladder mass"Endosteal scalloping'Urinary bladder hamartomaPeritoneal mass!Fallopian tube mass>0Aplasia of the pyramids of the medulla oblongata BathrocephalyOccipital horn$Absent pituitary stalk1#Abnormal pituitary stalk morphology)Interrupted pituitary stalkFacial synkinesis SynkinesisExposure to birds Perianal anethesiaI;Failure of phenylephrine to induce blanching of eye redness$Fetal alcohol exposure/!Reduced cellular cobalamin uptake-Focal necrotic brainstem lesion/!Focal necrotic optic nerve lesion,Focal necrotic thalamus lesion'Interstitial dermal edema,Shoulder abduction contracture4&Shoulder external rotation contracture)Thumb adduction contracture/!Hip internal rotation contractureF8obsolete Elevated circulating saccharopine concentrationA3Reduced tissue fructose-1,6-bisphosphatase activityF8Reduced hepatic carbamoylphosphate synthetase 1 activity>0Reduced intraepidermal small nerve fiber density(Femoral artery duplication8*Intracellular accumulation of collagen VII?1Reduced reticular lamina anchoring fibril density>0Reduced lamina lucida anchoring filament density<.Reduced epidermal keratin 5 protein expression=/Reduced epidermal keratin 14 protein expression:,Reduced epidermal keratin protein expressionJ0Cutaneous atresia of the external auditory canal<.Osseous atresia of the external auditory canal?1Cutaneous stenosis of the external auditory canal=/Osseous stenosis of the external auditory canal<.Abnormal lateral semicircular canal morphology>0Abnormal posterior semicircular canal morphology=/Abnormal anterior semicircular canal morphology)Abnormal utricle morphology)Abnormal saccule morphology7)obsolete Bilateral external ear deformityy*Abnormal number of tubercles7)Old-aged sensorineural hearing impairment@2Absence of the reflex of the tensor tympani muscle1#Abnormal Eustachian tube morphology,Aplasia of the Eustachian tube,Atresia of the Eustachian tube-Stenosis of the Eustachian tube6(Unilateral conductive hearing impairmentD6Abnormality of the reflex of the tensor tympani muscle0"Abnormality of the acoustic reflex3%Impairment of the the acoustic reflexC5Impairment of the reflex of the tensor tympani muscle,obsolete Patent tuba eustachii<.Abnormal circulating vitamin B12 concentration(Abnormal sweat homeostasis)Abnormal sweat electrolytes0"Abnormal nerve conduction velocity5'Abnormal circulating iron concentration6(Abnormal motor nerve conduction velocity8*Abnormal sensory nerve conduction velocity9+Abnormal circulating ferritin concentration1#Abnormal hepatic iron concentration-Abnormal transferrin saturationComedonal acne$Mucinous histiocytosis Lipogranulomatosis*Degeneration of the striatum Tardive dyskinesia9+Reduced circulating 5-oxoprolinase activity%Dystopic os odontoideum*L-2-hydroxyglutaric aciduria#Dicarboxylic acidemia*D-2-hydroxyglutaric acidemia*L-2-hydroxyglutaric acidemia Cortical myoclonusWoolly scalp hair'Epiblepharon of upper lid'Epiblepharon of lower lid Acne inversa4&Elevated urinary 3-hydroxybutyric acid. Elevated urinary carboxylic acid. Abnormal intermamillary distance+Short intermamillary distance&Abnormal spaced incisors&Generalized osteoporosis$Localized osteoporosisOrthokeratosis-Abnormal pelvis bone morphology Lipomas of eyelids Periostitis4&obsolete Abnormality of the periosteumviFacial papilloma. obsolete Focal seizures, afebrilLoose anagen hair(Abnormality of hair growth8*Decreased serum testosterone concentration5'Abnormality of occipitofrontalis muscle. Abnormality of the tongue muscle7)Abnormality of extrinsic muscle of tongueC5Platelet-activating factor acetylhydrolase deficiency=/Abnormal circulating phospholipid concentration:,Abnormal level of platelet-activating factor;-Increased level of platelet-activating factor;-Decreased level of platelet-activating factor-obsolete Hyperkeratosis pilaris} Chapped lip-Inappropriate sinus tachycardia Encopresis Oral bleeding#Macrothrombocytopenia%Maculopapular exanthemaNeonatal sepsisOsteochondrosis Scaling skin White scaling skin+Rectus femoris muscle atrophyAPUdoma&obsolete Pinealoblastomav*Increased head circumference*Decreased head circumferenceMild microcephalyEncephalomalacia-Non-medullary thyroid carcinoma#obsolete Flat midface.!Motor impersistence Simultanapraxia+ Abnormal consumption behavior2 $Abnormal CSF neopterin concentration* Elevated CSF neopterin level+ Decreased CSF neopterin level:,Abnormal circulating neopterin concentration/!Abnormal CSF pterin concentration*Elevated CSF biopterin level+Decreased CSF biopterin level:,Abnormal circulating biopterin concentration2$Abnormal skin morphology of the palmRisus sardonicusHypopnea8*Abnormal circulating insulin concentration9+obsolete Abnormal circulating insulin levelHypoinsulinemia%Elevated hemoglobin A1c/!Reduced natural killer cell count)Absent natural killer cells. Abnormal size of the dental root+Hypoplasia of the dental root$Maternal thrombophilia"Pulmonary hemorrhage) Abnormality of fibrinolysisO!ADecrease in high molecular weight von Willebrand factor Multimers5"'Decreased level of heparin co-factor II<#.Decreased level of histidine-rich glycoprotein,$Decreased level of plasminogen/%!Decreased level of thrombomodulin=&/Decreased level of tissue plasminogen activator('Abnormal onset of bleeding$(Delayed onset bleeding.) Factor XIII subunit A deficiency.* Factor XIII subunit B deficiency(+Leukocyte inclusion bodies,Hyperfibrinolysis4-&Impaired binding of factor VIII to VWF,.Impaired neutrophil chemotaxisP/BIncreased plasma vitamin K epoxide after vitamin K supplementation>00Increased ratio of VWF propeptide to VWF antigen1Increased RIPA2Muscle hemorrhage23$Prolonged euglobulin clot lysis time24$Prolonged Russell's viper venom time25$Reduced alpha-2-antiplasmin activity*6Reduced antithrombin antigen07"Reduced euglobulin clot lysis time@82Reduced plasminogen activator inhibitor 1 activity?91Reduced plasminogen activator inhibitor 1 antigen):Reduced prothrombin antigen; Hand dimple+<Abnormal size of the clitoris,=Increased size of the clitoris,>Decreased size of the clitoris0?"Aplasia/Hypoplasia of the clitoris:@,Aplastic/Hypoplastic nasopharyngeal adenoids6A(Abnormal size of nasopharyngeal adenoids1B#Hypoplastic nasopharyngeal adenoids.C Aplastic nasopharyngeal adenoids7D)Decreased size of nasopharyngeal adenoids7E)Increased size of nasopharyngeal adenoidsFGlue earG Jaw ankylosisHJaw pain+IUpper limb muscle hypertrophy4J&Proximal upper limb muscle hypertrophy2K$Distal upper limb muscle hypertrophy=L/obsolete Recurrent infections of the middle ear%MBlocked Eustachian tube(NImpaired glucose tolerance@P2Hyperintensity of MRI T2 signal of the spinal cord.Q Adenocarcinoma of the intestines3R%Adenocarcinoma of the small intestine3S%Adenocarcinoma of the large intestine)TAdenocarcinoma of the colon-UNeoplasm of the pituitary gland#Vobsolete ProlactinomaoW FrequencyXObligateY Very frequentZFrequent[ Occasional\ Very rare]Excluded.^ Abnormal axial muscle morphology"_Axial muscle atrophy&`Nasogastric tube feeding aCyclic neutropenia6b(obsolete Abnormality of skeletal muscles'cSkeletal muscle steatosisdLeft hemiplegiaeRight hemiplegiafDuplicated tongue*gDuplication of the upper lip.h Abnormal location of the eyebrowiPreauricular cyst,jHyperplasia of the endometrium9k+Decreased circulating free fatty acid level@l2Abnormal circulating free fatty acid concentration(mIncreased urinary glycerolnHyperglycerolemia6o(Decreased circulating iron concentration.p Duplication of the sella turcica#qIncreased male libido#rDecreased male libido%sMale sexual dysfunctiontMale anorgasmia,uIncreased size of the mandiblevSterile arthritis%wSymmetric polyarthritis)xTemporomandibular arthritisyOligoarthritisz Blind vagina{ Tongue edema+|obsolete Aplasia of the penisv5} Blue urine~ Red urine Dark urineRed-brown urineDark yellow urine Purple urineEyelid erythemaHeliotrope rashBull's eye rash. Hypoplasia of the olfactory bulb7)Abnormal morphology of the olfactory bulbB4Focal hyperintensity of cerebral white matter on MRIG9Multifocal hyperintensity of cerebral white matter on MRIF8Confluent hyperintensity of cerebral white matter on MRIA3Focal hypointensity of cerebral white matter on MRIF8Multifocal hypointensity of cerebral white matter on MRIE7Confluent hypointensity of cerebral white matter on MRIPurulent rhinitis!Nipple localization'Breast microcalcification0"Architectural distortion of breastA3Asymmetric thickening of the nipple-areolar complexPerimenopausalMastitis&Ameliorated by menopause%Fluctuance on palpation"History of vasectomy Pain in penis'Left ventricular thrombus%Atrophic vaginal mucosa Gelatinous ascites'Diffuse breast nodularity6(Abnormal urinary nitrogen compound level/!Decreased urinary biopterin level7)Abnormal urine guanidinoacetic acid level7)Elevated urine guanidinoacetic acid level/!Decreased urinary neopterin level,Abnormal urinary inosine level,Elevated urinary inosine level. Abnormal urinary guanosine level. Elevated urinary guanosine level1#Abnormal urinary hypoxanthine level2$Decreased urinary hypoxanthine level+RAbsent neutrophil lactoferrin'SNeutrophil nuclear clefts1T#Low neutrophil alkaline phosphatase/U!Increased neutrophil mitochondria,VIncreased neutrophil ribosomes(WBladder outlet obstructionOXADecreased expression of GPI-anchored proteins on the cell surface YStarch intolerance ZRenal tubular cyst[Ageusia!\Agenesis of putamen%]obsolete Fractured headz:^,obsolete Fractured thoracic segment of trunk_Fractured humerus `Hot cross bun sign2a$Transient decreased circulating IgG40b"Chronic decreased circulating IgG44c&Chronic (near) absent circulating IgG4:d,Chronic partially decreased circulating IgG4!eFractured calcaneus2f$Transient decreased circulating IgG20g"Chronic decreased circulating IgG2hFractured knee4i&Chronic (near) absent circulating IgG2:j,Chronic partially decreased circulating IgG22k$Transient decreased circulating IgG10l"Chronic decreased circulating IgG14m&Chronic (near) absent circulating IgG1:n,Chronic partially decreased circulating IgG12o$Transient decreased circulating IgG30p"Chronic decreased circulating IgG3)qFractured thoracic vertebra4r&Chronic (near) absent circulating IgG3:s,Chronic partially decreased circulating IgG39t+Abnormal immunoglobulin level in body fluid:u,Increased immunoglobulin level in body fluid:v,Decreased immunoglobulin level in body fluid+wDecreased body fat percentage6x(Abnormal proportion of exhausted T cells!yFractured lower legzFractured skull{Fractured phalanx5|'Compression-fractured thoracic vertebra,}Compression-fractured vertebra5~'Compression-fractured cervical vertebra3%Compression-fractured lumbar vertebra(Avulsion fractured humerus&Avulsion fractured tibia@2obsolete Avulsion fractured pelvic region of trunk3%Avulsion fractured epiphysis of femur(Emotional hypersensitivity Beau's lines$Complete tracheal ring@2Decreased middle cerebral artery pulsatility index+Fractured metaphysis of femur&Fractured right clavicle%Fractured left clavicle*Fractured lower limb segment*Fractured upper limb segment+Fractured metacarpus skeleton:,Fractured epiphysis of fifth metacarpal boneFractured tibia%Fractured clavicle bone3%Fractured acetabular part of hip boneFractured coccyx!Fractured epiphysis-Fractured navicular bone of pes#Fractured cuboid bone. Fractured sternoclavicular jointFractured ankle,obsolete Fractured elbow joint Fractured mandible&Fractured orbit of skullFractured larynx&obsolete Fractured trunk Fractured rib7)obsolete Fractured pelvic region of trunk!Metatarsal fracture$Fractured manual digitFractured talusFractured maxilla Fractured vertebra)Fractured cervical vertebra'Fractured lumbar vertebra$Fractured fused sacrum1#Fractured metacarpophalangeal joint/!Fractured distal phalanx of manus-Fractured middle phalanx of pes8*Fractured distal phalanx of manual digit 28*Fractured distal phalanx of manual digit 38*Fractured distal phalanx of manual digit 48*Fractured distal phalanx of manual digit 57)Fractured distal phalanx of pedal digit 17)Fractured distal phalanx of pedal digit 38*Fractured middle phalanx of manual digit 28*Fractured middle phalanx of manual digit 38*Fractured middle phalanx of manual digit 48*Fractured middle phalanx of manual digit 57)Fractured middle phalanx of pedal digit 39+Fractured proximal phalanx of pedal digit 1:,Fractured proximal phalanx of manual digit 1*Fractured epiphysis of femur;-Fractured epiphysis of second metacarpal bone:,Fractured epiphysis of third metacarpal bone;-Fractured epiphysis of fourth metacarpal bone:,Fractured epiphysis of first metatarsal bone;-Fractured epiphysis of second metatarsal bone:,Fractured epiphysis of third metatarsal bone2$Fractured distal epiphysis of radiusC5Fractured proximal epiphysis of first metacarpal boneN@Fractured proximal epiphysis of middle phalanx of manual digit 3-Fractured interphalangeal joint/!Fractured sternal end of clavicle<.Fractured epiphysis of middle phalanx of manus3%Fractured lateral malleolus of fibula3%Fractured proximal phalanx of digit 23%Fractured proximal phalanx of digit 33%Fractured proximal phalanx of digit 43%Fractured proximal phalanx of digit 52$Fractured fused metatarsal bones 2-4L>Fractured distal epiphysis of distal phalanx of manual digit 1 Fractured shoulder&Fractured distal phalanxFractured elbow#Fractured facial bone%Fractured head of femurFractured fibula2$Fractured metatarsal bone of digit 5)Fractured manual digit bone2 $Fractured metacarpal bone of digit 1* Fractured distal tarsal bone, Fractured distal tarsal bone 2, Fractured distal tarsal bone 32$Fractured metatarsal bone of digit 42$Fractured metatarsal bone of digit 1>0obsolete Fractured skeleton of manual acropodiumFractured ilium#Fractured bone of jaw%Fractured hindlimb bone/!Fractured middle phalanx of manusFractured patella. Fractured manual digit 1 phalanx&Fractured phalanx of pes(Fractured phalanx of manus1#Fractured proximal phalanx of manusFractured scapula%Fractured shoulder boneFractured sternum#Fractured tarsal bone# Fractured carpal bone!Fractured nose4&Abnormal ossification of the trapezium2$Absent ossification of the trapezium3%Abnormal ossification of the scaphoid9+Abnormal ossification of the trapezoid bone Neural tube defect*Aplasia of lymphatic vessels2$Abnormal substantia nigra morphology*Abnormal shape of the radius8*obsolete Abnormal morphology of the radius E7Abnormal peripheral nerve morphology by anatomical site7)Decreased urine bicarbonate concentration;-Decreased urinary catecholamine concentration>0obsolete Decreased urinary glucose concentration Hypolipidemia<.obsolete Elevated serum long-chain fatty acids 7)Congenital malformation of the left heart-Partial duplication of eyebrows&Narrow palpebral fissure-Abnormal mediastinum morphology0"Abnormality of the thoracic cavity Microlissencephaly$Eosinophilic fasciitis5'Elevated urinary 3-aminoisobutyric acid4&Decreased urinary copper concentration3%Abnormal urinary copper concentration(Abnormality of jaw musclesGastric lymphoma;-Osteolysis involving bones of the upper limbsF8Abnormal circulating lactate dehydrogenase concentrationE7Reduced circulating lactate dehydrogenase concentration?1Decreased circulating complement C4 concentration@2Decreased circulating complement C4a concentration@2Decreased circulating complement C4b concentration>0Elevated circulating acylcarnitine concentrationbTReduced insulin like growth factor binding protein acid labile subunit concentrationHbS hemoglobin'Increased HbA2 hemoglobin Abnormal DLCOIncreased DLCODecreased DLCO6(Abnormality of the brachial nerve plexus9+Abnormality of the lumbosacral nerve plexus(Brachial plexus neuropathy Tiger tail bandingB4Abnormal circulating alpha-fetoprotein concentrationC5Decreased circulating alpha-fetoprotein concentration,Abnormality of the testis size#Hyperkeratotic papuleC5Aplasia/hypoplasia involving bones of the extremities0"Decreased carnitine level in liver Increased PIVKA-II Serositis Thin eyebrowSparse eyebrow5'Distal femoral metaphyseal irregularity:,Decreased proportion of CD3-positive T cells,Abnormality of body mass index'Decreased body mass index0"obsolete Increased body mass indexLimb myoclonus(Atrophy of masseter muscle&Knee joint hypermobility%Hip joint hypermobility Clinical relevance!!Distinctive finding" Minor finding AnorgasmiaIncreased libidoDecreased libido Hand pain*Pain in head and neck region Bradypnea0"Abnormal cervical spine morphology. Early onset of sexual maturation$Malignant mesothelioma"Pleural mesothelioma%Peritoneal mesothelioma&Pericardial mesothelioma%Testicular mesothelioma4&Neoplasm of the central nervous system7)Neoplasm of the peripheral nervous system Schwannoma%Intracranial meningiomaSpinal meningioma Scleral schwannoma!Neoplasm of the eye$Neoplasm of the breast!Epiretinal membrane Stahl ear+Abnormal mesentery morphologyCapsular cataractNuclear cataractCortical cataract)Posterior capsular cataractCerebral palsy%Abnormality of movement%Recurrent hand flapping-Conspicuously happy dispositionOverfriendliness(Arteriovenous malformation$Recurrent pancreatitisEctopic thyroidLingual thyroid. Accessory ectopic thyroid tissue+Neoplasm of the thyroid glandTics Motor tics Phonic ticsPseudo-fractures+Abnormality of the scalp hair%Slow-growing scalp hair'Thickened cortex of bones Broad 2nd toe Broad 3rd toe Broad 4th toe Broad 5th toe-Absent epiphyses of the 2nd toe. Bracket epiphyses of the 2nd toe2$Cone-shaped epiphyses of the 2nd toe/!Enlarged epiphyses of the 2nd toe;-Fragmentation of the epiphyses of the 2nd toe0"Irregular epiphyses of the 2nd toe,Ivory epiphyses of the 2nd toe,Pseudoepiphyses of the 2nd toe,Small epiphyses of the 2nd toe7)Stippling of the epiphyses of the 2nd toe1#Triangular epiphyses of the 2nd toe-Absent epiphyses of the 3rd toe. Bracket epiphyses of the 3rd toe2$Cone-shaped epiphyses of the 3rd toe/!Enlarged epiphyses of the 3rd toe;-Fragmentation of the epiphyses of the 3rd toe0"Irregular epiphyses of the 3rd toe,Ivory epiphyses of the 3rd toe,Pseudoepiphyses of the 3rd toe,Small epiphyses of the 3rd toe7)Stippling of the epiphyses of the 3rd toe1#Triangular epiphyses of the 3rd toe-Absent epiphyses of the 4th toe. Bracket epiphyses of the 4th toe2$Cone-shaped epiphyses of the 4th toe/!Enlarged epiphyses of the 4th toe;-Fragmentation of the epiphyses of the 4th toe0"Irregular epiphyses of the 4th toe,Ivory epiphyses of the 4th toe,Pseudoepiphyses of the 4th toe,Small epiphyses of the 4th toe7)Stippling of the epiphyses of the 4th toe1#Triangular epiphyses of the 4th toe-Absent epiphyses of the 5th toe. Bracket epiphyses of the 5th toe2$Cone-shaped epiphyses of the 5th toe/!Enlarged epiphyses of the 5th toe;-Fragmentation of the epiphyses of the 5th toe0"Irregular epiphyses of the 5th toe,Ivory epiphyses of the 5th toe,Pseudoepiphyses of the 5th toe,Small epiphyses of the 5th toe7)Stippling of the epiphyses of the 5th toe1#Triangular epiphyses of the 5th toeOAAbnormality of the epiphysis of the distal phalanx of the 2nd toeOAAbnormality of the epiphysis of the middle phalanx of the 2nd toeQCAbnormality of the epiphysis of the proximal phalanx of the 2nd toeOAAbnormality of the epiphysis of the distal phalanx of the 3rd toeOAAbnormality of the epiphysis of the middle phalanx of the 3rd toeQCAbnormality of the epiphysis of the proximal phalanx of the 3rd toeOAAbnormality of the epiphysis of the distal phalanx of the 4th toeOAAbnormality of the epiphysis of the middle phalanx of the 4th toeQCAbnormality of the epiphysis of the proximal phalanx of the 4th toeOAAbnormality of the epiphysis of the distal phalanx of the 5th toeOAAbnormality of the epiphysis of the middle phalanx of the 5th toeQCAbnormality of the epiphysis of the proximal phalanx of the 5th toeC5Absent epiphysis of the distal phalanx of the 2nd toeD6Bracket epiphysis of the distal phalanx of the 2nd toeH:Cone-shaped epiphysis of the distal phalanx of the 2nd toeE7Enlarged epiphysis of the distal phalanx of the 2nd toeQCFragmentation of the epiphysis of the distal phalanx of the 2nd toeF 8Irregular epiphysis of the distal phalanx of the 2nd toeB 4Ivory epiphysis of the distal phalanx of the 2nd toeB 4Pseudoepiphysis of the distal phalanx of the 2nd toeB 4Small epiphysis of the distal phalanx of the 2nd toeM ?Stippling of the epiphysis of the distal phalanx of the 2nd toeG9Triangular epiphysis of the distal phalanx of the 2nd toeC5Absent epiphysis of the middle phalanx of the 2nd toeD6Bracket epiphysis of the middle phalanx of the 2nd toeH:Cone-shaped epiphysis of the middle phalanx of the 2nd toeE7Enlarged epiphysis of the middle phalanx of the 2nd toeQCFragmentation of the epiphysis of the middle phalanx of the 2nd toeF8Irregular epiphysis of the middle phalanx of the 2nd toeB4Ivory epiphysis of the middle phalanx of the 2nd toeB4Pseudoepiphysis of the middle phalanx of the 2nd toeB4Small epiphysis of the middle phalanx of the 2nd toeM?Stippling of the epiphysis of the middle phalanx of the 2nd toeG9Triangular epiphysis of the middle phalanx of the 2nd toeE7Absent epiphysis of the proximal phalanx of the 2nd toeF8Bracket epiphysis of the proximal phalanx of the 2nd toeJ8Bracket epiphysis of the proximal phalanx of the 3rd toeJ?Contracture of the distal interphalangeal joint of the 2nd toeL>Contracture of the distal interphalangeal joint of the 3rd toeL>Contracture of the distal interphalangeal joint of the 4th toeM?Contractures of the distal interphalangeal joint of the 5th toeI;Contracture of the metatarsophalangeal joint of the 2nd toeI;Contracture of the metatarsophalangeal joint of the 3rd toeI;Contracture of the metatarsophalangeal joint of the 4th toeI;Contracture of the metatarsophalangeal joint of the 5th toe*Upper-limb joint contracture5 'Aplasia of the phalanges of the 3rd toe5 'Aplasia of the phalanges of the 4th toe5 'Aplasia of the phalanges of the 5th toe*Short phalanx of the 3rd toe*Short phalanx of the 4th toe*Short phalanx of the 5th toeE7Aplasia/Hypoplasia of the distal phalanx of the 3rd toeE7Aplasia/Hypoplasia of the distal phalanx of the 4th toeE7Aplasia/Hypoplasia of the distal phalanx of the 5th toeE7Aplasia/Hypoplasia of the middle phalanx of the 3rd toeE7Aplasia/Hypoplasia of the middle phalanx of the 4th toeE7Aplasia/Hypoplasia of the middle phalanx of the 5th toeG9Aplasia/hypoplasia of the proximal phalanx of the 3rd toeG9Aplasia/hypoplasia of the proximal phalanx of the 4th toeG9Aplasia/hypoplasia of the proximal phalanx of the 5th toe2$Absent distal phalanx of the 3rd toe:,Aplasia of the distal phalanx of the 4th toe:,Aplasia of the distal phalanx of the 5th toe2$Absent middle phalanx of the 3rd toe:,Aplasia of the middle phalanx of the 4th toe:,Aplasia of the middle phalanx of the 5th toe4 &Absent proximal phalanx of the 3rd toe<!.Aplasia of the proximal phalanx of the 4th toe<".Aplasia of the proximal phalanx of the 5th toe9#+Aplasia of the middle phalanges of the toes;$-Aplasia of the proximal phalanges of the toes1%#Short distal phalanx of the 3rd toe1&#Short distal phalanx of the 4th toe1'#Short distal phalanx of the 5th toe1(#Short middle phalanx of the 3rd toe1)#Short middle phalanx of the 4th toe1*#Short middle phalanx of the 5th toe3+%Short proximal phalanx of the 3rd toe3,%Short proximal phalanx of the 4th toe3-%Short proximal phalanx of the 5th toe>.0Duplication of the distal phalanx of the 3rd toe>/0Duplication of the distal phalanx of the 4th toe>00Duplication of the distal phalanx of the 5th toe>10Duplication of the middle phalanx of the 3rd toe>20Duplication of the middle phalanx of the 4th toe>30Duplication of the middle phalanx of the 5th toe@42Duplication of the proximal phalanx of the 3rd toe@52Duplication of the proximal phalanx of the 4th toe@62Duplication of the proximal phalanx of the 5th toeG79Complete duplication of the distal phalanx of the 3rd toeG89Complete duplication of the distal phalanx of the 4th toeG99Complete duplication of the distal phalanx of the 5th toeG:9Complete duplication of the middle phalanx of the 3rd toeG;9Complete duplication of the middle phalanx of the 4th toeG<9Complete duplication of the middle phalanx of the 5th toeI=;Complete duplication of the proximal phalanx of the 3rd toeI>;Complete duplication of the proximal phalanx of the 4th toeI?;Complete duplication of the proximal phalanx of the 5th toeF@8Partial duplication of the distal phalanx of the 3rd toeFA8Partial duplication of the distal phalanx of the 4th toeFB8Partial duplication of the distal phalanx of the 5th toeFC8Partial duplication of the middle phalanx of the 3rd toeFD8Partial duplication of the middle phalanx of the 4th toeFE8Partial duplication of the middle phalanx of the 5th toeHF:Partial duplication of the proximal phalanx of the 3rd toeHG:Partial duplication of the proximal phalanx of the 4th toeHH:Partial duplication of the proximal phalanx of the 5th toe1I#Broad middle phalanx of the 3rd toe1J#Broad middle phalanx of the 4th toe1K#Broad middle phalanx of the 5th toe3L%Broad proximal phalanx of the 3rd toe3M%Broad proximal phalanx of the 4th toe3N%Broad proximal phalanx of the 5th toe1O#Broad distal phalanx of the 3rd toe1P#Broad distal phalanx of the 4th toe1Q#Broad distal phalanx of the 5th toe9R+Bullet-shaped middle phalanx of the 3rd toe9S+Bullet-shaped middle phalanx of the 4th toe9T+Bullet-shaped middle phalanx of the 5th toe;U-Bullet-shaped proximal phalanx of the 3rd toe;V-Bullet-shaped proximal phalanx of the 4th toe;W-Bullet-shaped proximal phalanx of the 5th toe9X+Bullet-shaped distal phalanx of the 3rd toe9Y+Bullet-shaped distal phalanx of the 4th toe9Z+Bullet-shaped distal phalanx of the 5th toe2[$Curved middle phalanx of the 3rd toe2\$Curved middle phalanx of the 4th toe2]$Curved middle phalanx of the 5th toe4^&Curved proximal phalanx of the 3rd toe4_&Curved proximal phalanx of the 4th toe4`&Curved proximal phalanx of the 5th toe2a$Curved distal phalanx of the 3rd toe2b$Curved distal phalanx of the 4th toe2c$Curved distal phalanx of the 5th toeEd7Osteolytic defects of the middle phalanx of the 3rd toeEe7Osteolytic defects of the middle phalanx of the 4th toeEf7Osteolytic defects of the middle phalanx of the 5th toeGg9Osteolytic defects of the proximal phalanx of the 3rd toeGh9Osteolytic defects of the proximal phalanx of the 4th toeGi9Osteolytic defects of the proximal phalanx of the 5th toeEj7Osteolytic defects of the distal phalanx of the 3rd toeEk7Osteolytic defects of the distal phalanx of the 4th toeEl7Osteolytic defects of the distal phalanx of the 5th toeCm5Patchy sclerosis of the middle phalanx of the 3rd toeCn5Patchy sclerosis of the middle phalanx of the 4th toeCo5Patchy sclerosis of the middle phalanx of the 5th toeEp7Patchy sclerosis of the proximal phalanx of the 3rd toeEq7Patchy sclerosis of the proximal phalanx of the 4th toeEr7Patchy sclerosis of the proximal phalanx of the 5th toeCs5Patchy sclerosis of the distal phalanx of the 3rd toeCt5Patchy sclerosis of the distal phalanx of the 4th toeCu5Patchy sclerosis of the distal phalanx of the 5th toeGv9Symphalangism affecting the middle phalanx of the 3rd toeGw9Symphalangism affecting the middle phalanx of the 4th toeGx9Symphalangism affecting the middle phalanx of the 5th toeIy;Symphalangism affecting the proximal phalanx of the 3rd toeIz;Symphalangism affecting the proximal phalanx of the 4th toeI{;Symphalangism affecting the proximal phalanx of the 5th toeG|9Symphalangism affecting the distal phalanx of the 3rd toeG}9Symphalangism affecting the distal phalanx of the 4th toeG~9Symphalangism affecting the distal phalanx of the 5th toe6(Proximal/middle symphalangism of 3rd toe6(Proximal/middle symphalangism of 4th toe6(Proximal/middle symphalangism of 5th toeZLSymphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsalZLSymphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsalZLSymphalangism of the proximal phalanx of the 4th toe with the 4th metatarsalZLSymphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal=/Triangular shaped distal phalanx of the 5th toeVHSynostosis of the proximal phalanx of the hallux with the 1st metatarsal6(Proximal/middle symphalangism of 2nd toe%Camptodactyly of finger-Abnormality of lower limb jointJ$Coarse metaphyseal trabecularization1?#Abnormal trabecular bone morphology@Vaginal herniaAVaginal hydrocele BVaginal hematoceleCVaginal pyocele DVaginal lymphocele"EVulval varicose vein&FPremature skin wrinkling%GLack of skin elasticity$IEsophageal duplicationJTracheal atresia%LSalivary gland neoplasm/M!Abnormal Sharpey fiber morphologyN EnthesitisOPolyotia)QDecreased corneal thickness.R Mosaic central corneal dystrophy8S*Abnormality of the curvature of the cornea)TIncreased corneal curvatureU IridodonesisVTibial torsionWLipedemaYNeurofibrosarcoma'ZSubcutaneous neurofibroma[Scarring1\#Abnormal arachnoid mater morphology ]Abnormal pia mater^Arachnoid cyst_Tongue thrusting(`Cerebral visual impairment,aAbnormal glial cell morphology1b#Abnormal oligodendroglia morphology+cAbnormal astrocyte morphology+dAbnormal microglia morphology*eReduction of oligodendrogliaf Impulsivity0g"Abnormal thoracic spine morphology.h Abnormal lumbar spine morphology%lSelf-injurious behavior*mAbnormal cementum morphologynUterine ruptureo Lens coloboma-pHypoplasia of the ear cartilage)qMediastinal lymphadenopathy+sGastrointestinal stroma tumor tHypercoagulabilityuLichenificationvKaposi's sarcomaw Histiocytosis!xGerm cell neoplasiay Large facezBronchogenic cyst%{Transverse facial cleft!|Pancreatic fibrosis/}!Neoplasm of the parathyroid gland5~'Abnormal vertebral epiphysis morphology!Hypertensive crisis-Abnormal soft palate morphology-Abnormal hard palate morphology&Abnormal eating behaviorBulimiaVascular neoplasm$Neoplasm of the rectum3%Abnormality of the humeroradial joint2$Abnormality of the humeroulnar joint$Macrodactyly of finger!Macrodactyly of toeMuscular edema Chest pain Atelectasis!Esophageal neoplasm'Abnormal liver lobulation SchizophreniaMania'Abnormality of salivationPancreatoblastomaGangrene!Clubbing of fingersClubbing of toes#Visceral angiomatosis Hemobilia1#Abnormality of the lymphatic system Lymphangioma(Abnormality of the tonsils2$Abnormal lymphatic vessel morphology*Abnormal placenta morphologyChoriocarcinoma SynovitisHyperperistalsisHypoperistalsis#Cartilage destruction Hyperostosis Dural ectasia#Recurrent pharyngitis ExostosesCryoglobulinemia&Urogenital sinus anomaly$Conjunctival hamartoma2$Abnormal sacroiliac joint morphologyBreast aplasia. Peripheral arteriovenous fistulaInsomnia HypersomniaProstate neoplasm Fused lipsTorus palatinusHernia Acantholysis'Abnormally straight spineOrchitisToenail dysplasia"Fingernail dysplasia(Neoplasm of the middle ear0"Aplasia/Hypoplasia of the pancreas Pancreatic aplasia(Malposition of the stomach2$Abnormality of the periungual regionUngual fibroma+obsolete Precocious menopauseSepsis Long fingers"Gastric diverticulumScalp tenderness Pointed helix-Aplasia/Hypoplasia of the colon Halitosis Testicular torsion Blue nevus#Lip hyperpigmentation'Renovascular hypertension Long thorax Intestinal fistulaGlomerulopathy Urethrocele RectoceleGenital hernia Cheilitis"Neoplasm of the nail Lymphocytosis$Increased T cell count Galactorrhea Round ear1#Abnormality of vitamin K metabolismVitreous floaters-Neoplasm of the small intestine-Neoplasm of the large intestine;-Benign neoplasm of the central nervous system>0Malignant neoplasm of the central nervous system'Atrophodermia vermiculata3%Recurrent cutaneous abscess formationHepatic agenesis/!Aplasia/Hypoplasia of the eyebrow Microgastria#Septo-optic dysplasia#obsolete Glioblastoma/ Pancreatic fistula Anaphylactic shock%Palmoplantar pustulosis5'Neoplasm of the male external genitalia%Neoplasm of the scrotum#Neoplasm of the penis&Abnormal emotional state,Abnormal fear-induced behavior Hypoplastic areola(Aplasia of the musculature Triceps hypoplasia'Poorly ossified vertebrae Flat sella turcica)Dilatation of celiac artery6(Dilatation of superior mesenteric artery6(Dilatation of Inferior mesenteric artery&Sclerotic vertebral body)Aplasia of the femoral head)Aplasia of the femoral neck Short femoral neck Broad ischiaShort iliac bonesDuodenal stenosis#Palmar telangiectasia$Plantar telangiectasia&Abnormal palm morphology5'Abnormality of the plantar skin of foot Thick hair Hemimacroglossia" Infra-orbital crease  Renal diverticulumEnlarged uterusEnlarged ovariesNephrogenic rest-Congenital mesoblastic nephromaFibrous hamartoma Chorangioma$Compensatory scoliosis$Lateral venous anomaly+Abnormality of globe location'Abnormality of globe size Interdigital loops4&Abnormal ductus choledochus morphology,Cyst of the ductus choledochus#Bifid xiphoid process0"Abnormality of the xiphoid process'Prominent xiphoid process#Broad xiphoid process Rectal polyposis$"Connective tissue nevi)#Sclerosis of finger phalanx?$1Sclerosis of the distal phalanx of the 2nd finger?%1Sclerosis of the distal phalanx of the 3rd finger?&1Sclerosis of the distal phalanx of the 4th finger?'1Sclerosis of the distal phalanx of the 5th finger?(1Sclerosis of the middle phalanx of the 2nd finger?)1Sclerosis of the middle phalanx of the 3rd finger?*1Sclerosis of the middle phalanx of the 4th finger?+1Sclerosis of the middle phalanx of the 5th fingerA,3Sclerosis of the proximal phalanx of the 2nd fingerA-3Sclerosis of the proximal phalanx of the 3rd fingerA.3Sclerosis of the proximal phalanx of the 4th fingerA/3Sclerosis of the proximal phalanx of the 5th finger:0,Sclerosis of the distal phalanx of the thumb<1.Sclerosis of the proximal phalanx of the thumb-2Sclerosis of the 1st metacarpal03"Sclerosis of distal finger phalanx04"Sclerosis of middle finger phalanx25$Sclerosis of proximal finger phalanx-6Sclerosis of 2nd finger phalanx-7Sclerosis of 3rd finger phalanx-8Sclerosis of 4th finger phalanx-9Sclerosis of 5th finger phalanx(:Sclerosis of thumb phalanx";Clavicular sclerosis&<Sclerosis of toe phalanx$=Sclerosis of foot bone*>Sclerosis of 2nd toe phalanx*?Sclerosis of 3rd toe phalanx*@Sclerosis of 4th toe phalanx*ASclerosis of 5th toe phalanx)BSclerosis of hallux phalanx>C0Sclerosis of the proximal phalanx of the 2nd toe>D0Sclerosis of the proximal phalanx of the 3rd toe>E0Sclerosis of the proximal phalanx of the 4th toe>F0Sclerosis of the proximal phalanx of the 5th toe<G.Sclerosis of the middle phalanx of the 2nd toe<H.Sclerosis of the middle phalanx of the 3rd toe<I.Sclerosis of the middle phalanx of the 4th toe<J.Sclerosis of the middle phalanx of the 5th toe<K.Sclerosis of the distal phalanx of the 2nd toe<L.Sclerosis of the distal phalanx of the 3rd toe<M.Sclerosis of the distal phalanx of the 4th toe<N.Sclerosis of the distal phalanx of the 5th toe=O/Sclerosis of the proximal phalanx of the hallux;P-Sclerosis of the distal phalanx of the hallux-QSclerosis of the 1st metatarsal/R!Sclerosis of proximal toe phalanx-SSclerosis of middle toe phalanx-TSclerosis of distal toe phalanx=V/Decreased 3-hydroxyacyl-CoA dehydrogenase level.W Enlarged fossa interpeduncularis&XEnlarged sylvian cistern/Y!Enlarged interhemispheric fissureZOpen operculum.[ Giant cell granuloma of mandible/]!Abnormal renal medulla morphology)^Narrow foramen obturatorium%_Dense metaphyseal bands+`Lateral ventricular asymmetry"aEnlarged hippocampusbExcessive shynessc Hyperesthesia- @Dysharmonic skeletal maturation. A Dysharmonic accelerated bone age CSplayed epiphyses5 E'Abnormal shape of the palpebral fissure/ F!Slanting of the palpebral fissure5 G'Abnormal size of the palpebral fissures" HIntestinal polyposis0 K"Abnormal length of corpus callosum# LShort corpus callosum& MNeoplasm of fatty tissue0 O"Symmetric great toe depigmentation P Acrokeratosis, QCerebral white matter agenesis R Protanomaly TCorneal erosion$ UDown-sloping shoulders& VChoroid plexus papilloma WPriapism, XPremature chromatid separation YMandibular pain Z Ocular pain  \Pretibial myxedema$ ]Vasculitis in the skin. ^ Punctate vasculitis skin lesions# `Kayser-Fleischer ring bPapule c Skin plaque d Skin nodule e Skin vesicle gPustule hEpidermoid cyst i Skin erosion j Skin ulcer kVerrucae l Porokeratosis nCat cry! oChondritis of pinna pCyanotic episode# qUpper limb hypertonia* rBracket metacarpal epiphyses* uHemihypotrophy of lower limb vFoot monodactyly w Small hand x Macular scar yMarcus Gunn pupil z Angiosarcoma% {Metastatic angiosarcoma" Colorectal polyposis, Asymmetry of iris pigmentation( Chorioretinal degeneration- Ribbonlike corneal degeneration, Recurrent spontaneous abortion( Nonprogressive visual loss( Peripheral retinal atrophy3 %Peripheral vitreoretinal degeneration# Episodic quadriplegiaJ  0Agenesis of permanent mandibular lateral incisor< .Agenesis of primary mandibular lateral incisor+ Agenesis of maxillary incisor, Agenesis of mandibular incisor Tall chin'Chin with vertical creaseExtra concha fold/!Focal absence of the external earLong ear Short ear PolymenorrheaMenometrorrhagia'AAbnormal vomer morphology/A!obsolete Cleft maxillary alveolus(1-Aobsolete Cleft secondary palateACleft hard palate.A Abnormality of ophthalmic artery:A,obsolete Abnormality of cartilage morphology :A,Abnormality of the peripheral nervous system7A)Abnormality of the somatic nervous system1A#Abnormality of somatic nerve plexus/A!Abnormality of masticatory muscle-AAbnormal mouth floor morphology5A'Abnormality of the submandibular region*AAbnormal ganglion morphologyDA6Abnormal peripheral nervous system ganglion morphology2A$Abnormal cranial ganglion morphologyAOtitis externa&ARecurrent ear infectionsAEpigastric painA Fish odorA Musty odorAVaginal fish odorUAGAbnormal distribution of cell junction proteins in buccal mucosal cells.A Abnormal periodontium morphology-AAlveolar bone loss around teeth#ARecurrent oral herpesA Cleft lip5A'Submucous cleft of soft and hard palate%Aobsolete Cleft of uvula2A$Unilateral alveolar cleft of maxilla1A#Bilateral alveolar cleft of maxilla(AAbnormal T cell activation'AAbnormal liver morphology-AAbnormal neural tube morphology,AAbnormal radial ray morphology=A/Decreased level of 1,5 anhydroglucitol in serumIA;Increased level of 3-hydroxy-3-methylglutaric acid in urine3A%Increased level of allantoin in serumHA:Elevated circulating gamma-aminobutyric acid concentration6A(Decreased circulating GABA concentration4A&Decreased level of erythritol in urine4A&Decreased CSF erythritol concentration5A'Increased level of D-threitol in plasma4A&Increased CSF D-threitol concentration4A&Increased level of D-threitol in urine3A%Decreased level of D-mannose in urine5A'Increased level of galactitol in plasma4A&Increased level of galactitol in urine?A1Increased level of galactonate in red blood cells>A0Increased level of galactitol in red blood cells7A)Increased level of hippuric acid in blood7A)Increased level of hippuric acid in urine2A$Increased level of L-fucose in urineBA4obsolete Increased level of L-glutamic acid in blood:A,Increased level of propylene glycol in blood1A#Increased level of ribitol in urine1A#Increased CSF ribitol concentration0A"Increased level of ribose in urine0A"Increased CSF ribose concentration1A#Increased level of xylitol in urine1A#Increased CSF xylitol concentration=B/Increased level of L-pyroglutamic acid in urine*BChronic idiopathic urticaria BPhysical urticariaBCold urticaria!BAquagenic urticariaBSolar urticaria!BVibratory urticaria*BExercise induced anaphylaxis<B .Abnormal circulating biotinidase concentration=B!/Decreased circulating biotinidase concentration<B".Elevated circulating biotinidase concentration=B#/Eosinophilic infiltration in the stomach mucosa$B$Idiopathic anaphylaxis&B%Drug-induced anaphylaxis8B'*Eosinophilic infiltration of the esophagusBB(4Eosinophilic microabscess formation in the esophagus=B)/Increased level of methylsuccinic acid in urine7B*)Increased level of myristic acid in serumAB,3Increased level of N-acetylneuraminic acid in urineGB-9Increased level of N-acetylneuraminic acid in fibroblastsBB.4obsolete Increased urine O-phosphoethanolamine level 5B6'Defective interstrand cross-link repair:B7,Abnormal morphology of the chest musculature1B8#Abnormality of the back musculature=B9/Abnormal morphology of the shoulder musculature!B:Hippocampal atrophy&B;Increased cotinine levelB<Blood xenobiotic<B=.Increased circulating troponin I concentration<B>.Increased circulating troponin T concentrationB?HyperketonemiaRB@DAbnormal circulating glucose-6-phosphate dehydrogenase concentrationGBA9Abnormal glucose-6-phosphate dehydrogenase level in bloodHBB:Increased glucose-6-phosphate dehydrogenase level in bloodHBC:Decreased glucose-6-phosphate dehydrogenase level in bloodRBDDAbnormal glucose-6-phosphate dehydrogenase level in dried blood spotSBEEIncreased glucose-6-phosphate dehydrogenase level in dried blood spotSBFEDecreased glucose-6-phosphate dehydrogenase level in dried blood spotLBG>Abnormal glucose-6-phosphate dehydrogenase level in leukocytesQBHCAbnormal glucose-6-phosphate dehydrogenase level in red blood cellsHBI:Abnormal glucose-6-phosphate dehydrogenase level in tissueIBJ;Increased glucose-6-phosphate dehydrogenase level in tissueIBK;Decreased glucose-6-phosphate dehydrogenase level in tissueRBLDDecreased glucose-6-phosphate dehydrogenase level in red blood cellsRBMDIncreased glucose-6-phosphate dehydrogenase level in red blood cellsMBN?Decreased glucose-6-phosphate dehydrogenase level in leukocytesMBO?Increased glucose-6-phosphate dehydrogenase level in leukocytesMBP?obsolete Abnormal uridine diphosphate glucose-4-epimerase levelBQHBQ:Abnormal circulating UDP glucose-4-epimerase concentrationIBR;Increased circulating UDP glucose-4-epimerase concentrationIBS;Decreased circulating UDP glucose-4-epimerase concentrationHBT:Abnormal erythrocyte UDP glucose-4-epimerase concentrationIBU;Increased erythrocyte UDP glucose-4-epimerase concentrationIBV;Decreased erythrocyte UDP glucose-4-epimerase concentration/BW!Increased CSF urate concentration0BX"Positive meconium barbiturate test,BYPositive hair barbiturate test-BZPositive stool barbiturate test5B['Positive gastric fluid barbiturate test/B\!Increased intestinal transit time=B]/Abnormal circulating nicotinurate concentration6B^(Increased circulating nicotinurate level2B_$Positive methadone plasma/serum test1B`#Positive plasma/serum cotinine test&BaFolate deficiency in CSF-BbAbnormal cord blood measurement4Bc&Abnormal blood gas level in cord blood'BdHyperoxemia in cord blood%BeHypoxemia in cord blood'BfHypercapnia in cord blood&BgHypocapnia in cord blood;Bh-Abnormal blood 5-methyltetrahydrofolate level:Bi,Reduced blood 5-methyltetrahydrofolate level8Bj*Hypoplasia of maxilla relative to mandible8Bk*Hypoplasia of mandible relative to maxilla=Bl/Increased anti-dairy protein IgE antibody level>Bm0Increased anti-animal protein IgE antibody level7Bn)Increased anti-seafood IgE antibody level9Bo+Increased anti-dust mite IgE antibody level8Bp*Increased anti-bacteria IgE antibody level4Bq&Increased anti-drug IgE antibody level7Br)Increased anti-feather IgE antibody level=Bs/Increased anti-food allergen IgE antibody levelIBt;Increased anti-plant based food allergen IgE antibody level6Bu(Increased anti-gluten IgE antibody level@Bv2Increased anti-nut food product IgE antibody level3Bw%Increased anti-egg IgE antibody level5Bx'Increased anti-fungi IgE antibody level=By/Increased anti-meat allergen IgE antibody level8Bz*Increased anti-parasite IgE antibody level6B{(Increased anti-insect IgE antibody level5B|'Increased anti-venom IgE antibody level=B~/Increased anti-plant product IgE antibody level-BPositive urine norcotinine test4B&Abnormal circulating IgA concentration4B&Abnormal circulating IgE concentration4B&Abnormal circulating IgG concentration4B&Abnormal circulating IgM concentration4B&Abnormal circulating IgD concentration5B'Decreased circulating IgD concentration5B'Increased circulating IgD concentration=B/Increased anti-animal dander IgE antibody level?B1Increased anti-house dust mite IgE antibody level9B+Increased anti-alpha-gal IgE antibody level*BAbnormal L-selectin shedding!BChronic neutropenia'BMyeloid maturation arrestLB>Cyclic neutropenia in myeloid maturation arrest in bone marrow#BTransient neutropenia.B Infection associated neutropenia3B%Neutrophilia in presence of infection2B$Neutrophilia in absence of infection$BHepatopulmonary fusion)BAsymmetrical gluteal crease0B"Wide space between 4th and 5th toe-BLower cranial nerve dysfunction'BBrain imaging abnormality#BSubglottic hemangioma%BSupraglottic hemangioma!BVisceral hemangioma#BIntestinal hemangiomaBSpleen hemangiomaBLabial hemangioma#BEsophageal hemangioma"BLaryngeal hemangiomaBVulvar hemangioma(BRetropharyngeal hemangioma#BParaspinal hemangioma$BLumbosacral hemangioma"BSupraumbilical rapheB Sternal pit"BPituitary gland cyst&BAtrophic pituitary glandBPediatric onsetB Dyspepsia8B*Abnormal circulating amylase concentration/B!Positive blood acetaminophen test1B#Positive norpropoxyphene blood test.B Positive meconium methadone test+BPositive blood molindone test&BIntrathoracic hemangiomaBHyperamylasemiaBHypoamylasemia1B#Positive urine norpropoxyphene testB Negativism-BAbnormal isohemagglutinin level+BAbsent isohemagglutinin levelEB7Decreased specific antibody response to protein vaccine`BRComplete or near-complete absence of specific antibody response to tetanus vaccinedBVComplete or near-complete absence of specific antibody response to hepatitis B vaccineNB@Partial absence of specific antibody response to tetanus vaccineRBDPartial absence of specific antibody response to hepatitis B vaccineLB>Decreased specific antibody response to polysaccharide vaccinerBdComplete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine`BRPartial absence of specific antibody response to unconjugated pneumococcus vaccine_BQDecreased specific antibody response to protein-conjugated polysaccharide vaccine|BnComplete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccinefBXComplete or near-complete absence of specific antibody response to meningococcus vaccinejB\Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccineTBFPartial absence of specific antibody response to meningococcus vaccine+BPositive stool methadone test?B1Decreased specific antibody response to infection(BAlpha-aminoadipic aciduria9B+Abnormality of neutrophil morphology in CSF:B,Hyposegmentation of neutrophil nuclei in CSF;B-Hypersegmentation of neutrophil nuclei in CSF>B0Abnormal urinary 1-methylhistidine concentration1B#Decreased urinary 1-methylhistidine1B#Increased urinary 1-methylhistidine6B(Abnormal urinary 3-methylhistidine level1B#Increased urinary 3-methylhistidine1B#Decreased urinary 3-methylhistidineBAlpha-gal allergy$BAnimal protein allergy#BAnimal dander allergyBBacteria allergyB Drug allergyBDust mite allergy.B obsolete House dust mite allergyBBFeather allergyB Dairy allergyB Egg allergyBGluten allergy#BMeat allergen allergy&BNut food product allergy&BPlant based food allergyBSeafood allergyB Fungi allergyBInsect allergyB Venom allergyBParasite allergy#BPlant product allergy!BInsect bite allergy9B+Focal epithelial hyperplasia of oral mucosa8B*Abnormal circulating heparan sulfate level9B+Increased circulating heparan sulfate level9B+Decreased circulating heparan sulfate level9B+Shortened O-fucosylated glycan on properdin*BIncreased urinary polyhexose>B0Increased urinary galactosylated oligosaccharideAB3Increased urinary high-mannose-type oligosaccharideIB;Increased urinary multiantennary sialylated oligosaccharideiB[Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level;B-Increased urinary fucosylated oligosaccharide-BAbnormal complex N-glycan level.B Increased complex N-glycan level.B Decreased complex N-glycan level1B#Increased sialylated N-glycan level1B#Decreased sialylated N-glycan level2B$Abnormal high-mannose N-glycan level3B%Increased high-mannose N-glycan level3B%Decreased high-mannose N-glycan level,BAbnormal core 1 O-glycan level-BIncreased core 1 O-glycan level-BDecreased core 1 O-glycan level@B2Decreased O-mannosyl glycans on alpha-dystroglycan<B.Increased monosialylated core 1 O-glycan level<B.Decreased monosialylated core 1 O-glycan level:B,Increased disialylated core 1 O-glycan level+BIncreased globoside Gb4 level8B*Increased hepatitis A virus antibody level+CIncreased globoside Gb3 level8C*Increased hepatitis B virus antibody level(CAbsence of ganglioside GM38C*Increased hepatitis C virus antibody level(CIncreased Tn-antigen level6C(Abnormal proportion of naive CD4 T cells6C(Abnormal proportion of naive CD8 T cells7C)Increased proportion of naive CD4 T cells7C)Increased proportion of naive CD8 T cells7C )Decreased proportion of naive CD8 T cells7C )Decreased proportion of naive CD4 T cellsLC >Abnormal proportion of CD4-positive, alpha-beta memory T cellsLC >Abnormal proportion of CD8-positive, alpha-beta memory T cellsTC FAbnormal proportion of central memory CD4-positive, alpha-beta T cells^CPobsolete Abnormal proportion of effector memory CD4-positive, alpha-beta T cellsdUCGAbnormal proportion of effector memory CD8-positive, alpha-beta T cellsTCFAbnormal proportion of central memory CD8-positive, alpha-beta T cellsMC?Decreased proportion of CD8-positive, alpha-beta memory T cellsMC?Decreased proportion of CD4-positive, alpha-beta memory T cells_CQobsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cellsdUCGDecreased proportion of central memory CD4-positive, alpha-beta T cellsUCGDecreased proportion of central memory CD8-positive, alpha-beta T cellsVCHDecreased proportion of effector memory CD8-positive, alpha-beta T cellsMC?Increased proportion of CD4-positive, alpha-beta memory T cellsMC?Increased proportion of CD8-positive, alpha-beta memory T cellsUCGIncreased proportion of central memory CD4-positive, alpha-beta T cellsVCHIncreased proportion of effector memory CD4-positive, alpha-beta T cellsVCHIncreased proportion of effector memory CD8-positive, alpha-beta T cellsUCGIncreased proportion of central memory CD8-positive, alpha-beta T cellsCBronchiolectasis&CPositive blood lead test%C Absent sebaceous glandsC!Worse in evening. Abnormal frontal bone morphology/!Abnormal lacrimal bone morphology/!Abnormal palatine bone morphology)Frontomalar faciosynostosis. Abnormal ethmoid bone morphology%Ectopic cilia of eyelid SymblepharonAccessory eyelid"Hypoplasia of eyelidMicroblepharia-Defect of palpebral conjunctiva6(Incomplete ossification of palatine bone/!Absent palatine bone ossification7)Abnormality of musculature of soft palate;-Abnormal morphology of musculature of pharynx8*Abnormality of tensor veli palatini muscle*Abnormality of uvular muscle. Abnormality of nasal musculature8*Abnormality of muscle of facial expressionI;Abnormality of levator labii superioris alaeque nasi muscle7)Abnormal common carotid artery morphology/!Abnormality of the sphenoid sinus0"Abnormality of the maxillary sinus2$Abnormality of external jugular vein$Bilateral facial palsy>0obsolete Abnormality of the shape of the midface5(Hyperplasia of the maxilla+Hyperplasia of the premaxilla,Positive infectious agent test0"Aqueous humor viral DNA positivity3%Electronic cigarette exposure history Gottron sign<.Hypertension resistant to conventional therapy>0Tibiofibular interosseous membrane calcification*Supracondylar elbow fracture*Abnormal alcohol consumptionThoracic lordosis%Radiation into left arm&Radiation into right arm&Small joint hypermobilty&Large joint hypermobilty(Intracranial calcification. Anti-thyroid antibody positivity?1Bloodstream pathogen-specific antibody positivity=/Anti-SARS-CoV-2 coronavirus antibody positivity6(Anti-West Nile virus antibody positivity3%Anti-microfilaria antibody positivity8*Anti-trypanosoma cruzi antibody positivity8*Anti-chikungunya virus antibody positivity9+Anti-chlamydia psittaci antibody positivity5'Anti-herpes simplex antibody positivity<.Bloodstream virus-specific antibody positivity?1Bloodstream parasite-specific antibody positivity;-Bloodstream antibacterial antibody positivityK=Anti-Japanese encephalitis virus-specific antibody positivityE7Anti-chlamydia trachomatis-specific antibody positivityB4Anti-Epstein-Barr virus-specific antibody positivity7)Anti-babesia-specific antibody positivity9+Anti-Zikavirus-specific antibody positivity=/Positive bloodstream nucleic acid pathogen testE7Positive microfilaria PCR test in the blood circulationA3Positive JC-virus PCR test in the blood circulationPlacenta previaA3Abnormal circulating organic compound concentration>0Abnormal circulating beta-carotene concentration?1Decreased circulating beta-carotene concentration?1Increased circulating beta-carotene concentration"Mammary blocked duct8*Bloodstream antifungal antibody positivity3%Anti-coccidioidal antibody positivity3%Anti-cryptococcal antibody positivity1#Anti-mycoplasma antibody positivity2$Anti-rickettsial antibody positivity:,Anti-Bartonella henselae antibody positivity3%Anti-Dengue virus antibody positivity0"Anti-arbovirus antibody positivityC5Anti-lymphocytic choriomeningitis antibody positivity7)Anti-varicella-zoster antibody positivity. Anti-rubella antibody positivity6(Anti-cytomegalovirus antibody positivity. Anti-measles antibody positivity2 $Anti-schistosoma antibody positivity5 'Anti-Powassan virus antibody positivity Marker expression BCL2 expression BCL6 expressionCD5 expressionCD10 expressionCD23 expressionCD38 expressionCD45 expression"Cyclin D1 expressionFMC7 expressionCD19 expressionCD20 expression#Past surgical history=/Abnormal superficial temporal artery morphology4&Skip lesions on temporal artery biopsy. Abnormal brain-evoked potentials%Sputum infectious agent9+Positive Mycobacterium avium sputum culture@2Positive bloodstream infectious agent antigen test=/Positive bloodstream Cysticercosis antigen test Klazomania Coprolalia2!$Continuous involuntary vocalizations6"(Aplasia/hypoplasia of the uterine cervix!#Cervical hypoplasia@$2Primary peritoneal serous papillary adenocarcinoma1%#Positive skin infectious agent test'&Positive skin fungus test*'Nasal secretion eosinophilia*(Nasal secretion neutrophilia&)Seminal vesicle agenesis6*(Head impulse test has corrective saccade0+"Positive CSF infectious agent test>,0Positive CSF toxoplasma gondii nucleic acid testM-?Elevated circulating plasminogen activator inhibitor 1 activityM.?Abnormal circulating plasminogen activator inhibitor 1 activity /Brain localization+0Frontal cortical localization*1Posterior fossa localization&2Subcortical localization*3Parietal cortex localization+4Occipital cortex localization!5Tobacco use history6Bartholin cystE77Abnormal circulating hepatic transaminase concentrationJ8/Reduced circulating interleukin 6 concentrationB?4Elevated circulating C12 acylcarnitine concentration+@Frontalis muscle overactivity ANasal dermoid cyst>B0Elevated circulating complement C3 concentration:C,Abnormal circulating inhibin B concentration?D1Abnormal circulating lipoprotein(a) concentration2F$Positive blood infectious agent test>G0Positive respiratory tract infectious agent test! Body odor% Anal pain& Urethritis' Iris flocculi!(Cornea verticillata8)*Dysplastic gangliocytoma of the cerebellum3*%obsolete Increased cholesterol estersy+ Moon faciesC,5Abnormal gonadotropin-releasing hormone concentration@-2Lack of gonadotropin-releasing hormone pulsatility+.obsolete Abnormal test result#/Abnormal cardiac test"0Abnormal cardiac MRI.1 Abnormal cardiac catheterization32%Abnormal cardiac exercise stress testJ3!Abnormal hepatic glycogen storage+?Sclerosis of the carpal bones'@Abnormal neuron branching9A+Abnormal natural killer subset distribution*BNasolacrimal sac obstruction(CNasolacrimal sac granuloma(DNasolacrimal sac papilloma=E/Nasolacrimal sac epithelial papillary carcinoma(GConjunctival cicatrization,HDermolipoma of the conjunctiva IMyopic astigmatism"JLatent hypermetropiaKEyelid retraction%LUpper eyelid retractionMCollier's sign%NSeborrhoeic blepharitis'ONasolacrimal sac lymphoma7P)Delayed canalization of nasolacrimal duct(QRetinopathy of prematurity0R"Retinopathy of prematurity stage 10S"Retinopathy of prematurity stage 20T"Retinopathy of prematurity stage 30U"Retinopathy of prematurity stage 41V#Retinopathy of prematurity stage 4a1W#Retinopathy of prematurity stage 4b0X"Retinopathy of prematurity stage 51Y#Retinopathy of prematurity stage 5a1Z#Retinopathy of prematurity stage 5b/[!Retinopathy of prematurity zone I0\"Retinopathy of prematurity zone II1]#Retinopathy of prematurity zone III-^Retinopathy of prematurity plus1_#Retinopathy of prematurity pre-plus2`$Retinopathy of prematurity threshold5a'Retinopathy of prematurity prethresholdb Latent myopia!eParalytic ectropion&fConjunctival dermolipoma)hAbsolute eccentric fixation'iAbnormal ocular alignment,jDissociated vertical deviation.k Dissociated horizontal deviation%lAlternating hypertropia%mAlternating hyperphoria$nAlternating hypotropia$oAlternating hypophoriaq Pseudophakia'vOptic nerve gray crescent#wPeripapillary atrophy#xFoveal depigmentation+yOptic nerve sheath meningioma-zPeriocular capillary hemangioma'{Lymphangioma of the orbit&|Orbital rhabdomyosarcoma} Food allergy~ Latex allergy&Food-induced anaphylaxis'Venom-induced anaphylaxisStool xenobiotic!Meconium xenobioticHair xenobiotic%Plasma/serum xenobiotic&Gastric fluid xenobiotic0"Decreased diastolic blood pressure/!Decreased systolic blood pressure,Isolated systolic hypertension,Isolated diastolic hypotension)Positive urine cocaine test-Positive urine barbiturate test-Positive urine cannabinoid test1#Positive urine benzodiazepines test-Positive urine amphetamine test(Positive urine opioid test7)Abnormal stool urobilinogen concentration8*Increased stool urobilinogen concentration-Positive blood barbiturate test. Abnormal CSF urate concentration HypovalinemiaHypotyrosinemia!Hypertryptophanemia HypotryptophanemiaHypothreoninemiaHyperserinemiaHypoprolinemia@2Decreased circulating hydroxyproline concentration"Hypophenylalaninemia HypolysinemiaHypoleucinemiaHypoisoleucinemiaHypohistidinemiaHypoglutaminemia:,Abnormal circulating glutamate concentrationHyperglutamatemiaHypoglutamatemiaHypercystinemiaHypocystinemiaHyperargininemiaHypoalaninemia;-Abnormal circulating asparagine concentration HyperasparaginemiaHypoasparaginemia>0Abnormal circulating aspartic acid concentration?1Increased circulating aspartic acid concentration:,Abnormal circulating carnosine concentration;-Increased circulating carnosine concentration;-Decreased circulating carnosine concentrationHypoornithinemia1#Abnormal blood carbon dioxide level)Abnormal blood oxygen level8*Abnormal circulating gastrin concentrationHypergastrinemiaB4Abnormal concentration of acylcarnitine in the urine&Reflex asystolic syncopeD6Abnormal circulating amino sulfonic acid concentrationHypertaurinemiaHypotaurinemia8*Abnormal CSF carboxylic acid concentration3%Abnormal CSF amino acid concentrationB4Abnormal CSF branched chain amino acid concentration/!Abnormal CSF valine concentration0"Increased CSF valine concentration0"Decreased CSF valine concentration0"Abnormal CSF leucine concentration1#Decreased CSF leucine concentration1#Increased CSF leucine concentration3%Abnormal CSF isoleucine concentration4&Increased CSF isoleucine concentration4&Decreased CSF isoleucine concentrationD6Abnormal CSF glutamine family amino acid concentration2$Abnormal CSF glutamine concentration3%Increased CSF glutamine concentration3%Decreased CSF glutamine concentration2$Abnormal CSF glutamate concentration3%Increased CSF glutamate concentration3%Decreased CSF glutamate concentration1#Abnormal CSF arginine concentration2$Increased CSF arginine concentration2$Decreased CSF arginine concentrationD6Abnormal CSF aspartate family amino acid concentration/!Abnormal CSF lysine concentration0"Decreased CSF lysine concentration0"Increased CSF lysine concentration3%Abnormal CSF methionine concentration4&Increased CSF methionine concentration2$Abnormal CSF threonine concentration3%Increased CSF threonine concentration3%Decreased CSF threonine concentration<.Abnormal CSF aromatic amino acid concentration6(Abnormal CSF phenylalanine concentration2$Abnormal CSF aspartate concentration3%Increased CSF aspartate concentration3%Abnormal CSF tryptophan concentration1#Abnormal CSF tyrosine concentration2$Increased CSF tyrosine concentration2$Decreased CSF tyrosine concentration4&Increased CSF tryptophan concentration7)Increased CSF phenylalanine concentration7)Decreased CSF phenylalanine concentrationA3Abnormal CSF serine family amino acid concentration/!Abnormal CSF serine concentration0"Increased CSF serine concentration0"Decreased CSF serine concentration0"Abnormal CSF glycine concentration1#Increased CSF glycine concentrationC5Abnormal CSF pyruvate family amino acid concentration0"Abnormal CSF alanine concentration1 #Increased CSF alanine concentration1 #Decreased CSF alanine concentration2 $Abnormal CSF histidine concentration3 %Increased CSF histidine concentration3 %Decreased CSF histidine concentration0"Abnormal CSF albumin concentration1#Increased CSF albumin concentration2$Abnormal CSF carnosine concentration6(Abnormal CSF homocarnosine concentration7)Increased CSF homocarnosine concentration2$Abnormal CSF ornithine concentration3%Increased CSF ornithine concentration3%Abnormal CSF citrulline concentration4&Increased CSF citrulline concentration<.Abnormal CSF alpha-aminobutyrate concentration=/Increased CSF alpha-aminobutyrate concentration=/Abnormal circulating ethanolamine concentration>0Increased circulating ethanolamine concentration7)Abnormal urine sebacic acid concentration8*Increased urine sebacic acid concentrationA3Increased level of gamma-aminobutyric acid in urine:,Abnormal urine hexanoylglycine concentration9+Increased level of hexanoylglycine in urine< .Abnormal urine isobutyrylglycine concentration=!/Increased urine isobutyrylglycine concentration9"+Abnormal carbon dioxide level in cord blood1##Abnormal oxygen level in cord blood&$Triggered by head trauma&%Triggered by anesthetics&Atrichia/'!Abnormal helper T cell proportion0("Increased helper T cell proportionL)>Increased proportion of CD8-positive, alpha-beta TEMRA T cellsL*>Decreased proportion of CD8-positive, alpha-beta TEMRA T cells@+2Abnormal proportion of CD4-positive helper T cells8-*Abnormal proportion of gamma-delta T cells9.+Increased proportion of gamma-delta T cells9/+Decreased proportion of gamma-delta T cellsA03Abnormal proportion of immature gamma-delta T cellsB14Increased proportion of immature gamma-delta T cellsB24Decreased proportion of immature gamma-delta T cells"dsProximal sclerodermadt Verruca plana2du$Bilateral basilar pulmonary fibrosis0-"obsolete Abnormal heart morphology[6-(Abnormal inner ear epithelium morphology2-$Abnormal mandibular ramus morphology2-$Abnormal frontalis muscle physiology,-Abnormality of masseter muscle4-&Abnormality of medial pterygoid muscle,-Abnormality of mentalis muscle--Abnormality of mylohyoid muscle+-Abnormality of nasalis muscle4-&Abnormality of orbicularis oris muscle1-#Abnormality of palatoglossus muscle4-&Abnormality of palatopharyngeus muscle1-#Abnormal platysma muscle morphology,-Abnormality of procerus muscle,-Abnormality of risorius muscle0-"Abnormality of styloglossus muscle.- Abnormality of temporalis muscle5-'Abnormality of zygomaticus major muscle/-!Abnormal buccal mucosa morphology5-'Abnormality of zygomaticus minor muscle0-"Abnormal buccal fat pad morphology6-(Abnormality of cartilage of external ear+-Abnormality of angular artery/-!Abnormal facial artery morphology--Abnormality of ciliary ganglionI-;obsolete Abnormality of common carotid artery plus branches.- Abnormality of buccinator muscle9-+Abnormality of depressor anguli oris muscle7-)Abnormality of depressor labii inferioris8-*Abnormal morphology of bony orbit of skull6-(Abnormality of anterior ethmoidal artery3-%Abnormality of central retinal artery8-*Abnormal nasopharyngeal adenoid morphology;--Abnormality nasal septum cartilage morphology,-Abnormality of cervical plexus3-%Abnormal head blood vessel morphology3-%Abnormal neck blood vessel morphology3-%Abnormal cricoid cartilage morphology0-"Abnormality of dorsal nasal artery*-Abnormality of ethmoid sinus4-&Abnormality of external carotid artery.- Abnormal jugular vein morphology--Abnormal facial vein morphology7-)Abnormality of frontal process of maxilla0-"Abnormality of genioglossus muscle3-%Abnormal geniohyoid muscle morphology8-*Abnormal glossopharyngeal nerve morphology7-)Abnormal great auricular nerve morphology9-+Abnormal greater palatine artery morphology1-#Abnormal odontoid tissue morphology3-%Abnormal hyoglossus muscle morphology,-Abnormal hyoid bone morphology--Abnormal hypopharynx morphology:-,Abnormal inferior alveolar artery morphology4-&Abnormality of inferior alveolar nerve0-"Abnormality of artery of lower lip@-2Abnormality of inferior oblique extraocular muscle?-1Abnormality of inferior rectus extraocular muscle7-)Abnormal inferior thyroid vein morphology5-'Abnormal infraorbital artery morphology0-"Abnormality of infra-orbital nerve9-+Abnormal internal carotid artery morphology2-$Abnormality of internal jugular vein7-)Abnormality of intrinsic muscle of tongue1-#Abnormal lacrimal artery morphology.- Abnormal lacrimal sac morphology?-1Abnormal lateral cricoarytenoid muscle morphology5-'Abnormality of lateral pterygoid muscle?-1Abnormality of lateral rectus extra-ocular muscle0-"Abnormality of levator anguli oris5-'Abnormality of levator labii superioris>-0Abnormal levator palpebrae superioris morphology9- +Abnormality of levator veli palatini muscle0- "Abnormal lingual artery morphology/- !Abnormal lingual nerve morphology+- Abnormality of lingual tonsil;- -Abnormal mandible condylar process morphology;--Abnormal mandible coronoid process morphology6-(Abnormal mandibular symphysis morphologyA= 3Abnormal cardiac magnetic resonance imaging finding+= Elevated myocardial native T24= &Myocardial late gadolinium enhancement5= 'Pericardial late gadolinium enhancement+= Elevated myocardial native T1!= BronchoconstrictionB= 4Formation of multiple pronuclei during fertilization= Kinesiophobia@= 2Impaired renal tubular reabsorption of bicarbonate1= #History of congenital HPV infection!= Necrotizing ileitis3= %Anti-desmoglein-1 antibody positivity3= %Anti-desmoglein-3 antibody positivity1= #Anti-envoplakin antibody positivity1= #Anti-periplakin antibody positivity4= &Anti-desmoplakin I antibody positivity5= 'Anti-desmoplakin II antibody positivity,= Anti-BP230 antibody positivity,= Anti-BP180 antibody positivity2= $Anti-laminin 332 antibody positivity0= "Anti-laminin 6 antibody positivity5= 'Anti-laminin gamma1 antibody positivity.=  Anti-laminin antibody positivity/= !Anti-integrin antibody positivity.=  Anti-transglutaminase 6 antibody,= Anti-LAD-1 antibody positivity-= Anti-LABD97 antibody positivity-= Antigliadin antibody positivity0= "Anti-reticulin antibody positivity-= Anti-type VII collagen antibody-= False perception of self-motion"= !Non-spinning vertigo.= " Infection-associated lymphopenia,= #Primary obstructive megaureter,= $Encysted hydrocele of the cord"= %Congenital hydrocele!= &Infantile hydroceleH= ':Reduced proportion of mucosal-associated invariant T cells= (Puerpural onset= )AA amyloidosis= * Fracture type!= +Greenstick fracture!= ,Transverse fracture= -Spiral fracture= .Oblique fracture"= /Compression fracture!= 0Comminuted fracture = 1Segmental fracture= 2 Open fracture= 3Closed fracture= 4Avulsion fracture = 5Displaced fracture= 6Exanthem%= 7Intestinal inflammation = 8Abnormal apoptosis/= 9!Decreased FasL-mediated apoptosis$= :Glomerular proteinuria'= ;Abnormal lung development<= <.Abnormal pulmonary alveolar system development/= =!Pancreatic alpha-cell hyperplasia'= >3-4 metacarpal synostosis.= B Abnormal iliac artery morphology#= CIliac artery aneurysm= DAbnormal interest<= E.Persistent preoccupation with parts of objects= FFixated interests'= HAbnormal language feature= IPronoun reversal&= JInvoluntary vocalization5= K'Reduced frequency of facial expressions9= L+Use of another person's body to communicate2= M$Fixated interest with abnormal focus6= N(Fixated interest with abnormal intensity= OSensory seeking= Pobsolete 4000080OX,= QReduced production of gestures&= RReduced cooperative play'= SLack of interest in peers*= TReduced sharing of interests$= UReduced object sharing7= W)Abnormal communicative facial expressions>= X0Facial expressions that do not match the context3= Y%Abnormal quality of facial expression"= ZAbnormal gesture use-= \Poor conversational reciprocity$= ]Ectopic tooth eruption*= ^Corpus cavernosum hypoplasia8= _*Elevated circulating thymine concentration3= d%Positive lactose hydrogen breath test1= e#Triggered by exposure to medication&= fTriggered by allopurinol6= g(Ameliorated by oral zinc supplementation = hCurved dental root;= i-Abnormal four chamber view of the fetal heart= jSpleen hamartoma&= kPositive lupus band test1= l#Bone marrow erythroid vacuolization0= m"Triggered by electromagnetic field= nExposure history= oAsbestos exposure = pMedication history%= qAminoglycoside exposure= rStatin exposure1= s#Potassium-sparing diuretic exposure$= tCarbamazepine exposure = uValproate exposure"= vHydralazine exposure.= w Calcium channel blocker exposure!= xTriggered by nickel:= y,Triggered by poison ivy, poson oak, or sumac1= z#History of exclusive breast feeding= {Nutrition history)= |High dietary oxalate intake$= }Recent honey ingestion%= ~Raw egg-white ingestionC= 5Exacerbated by sodium channel blocking agent exposure)= Addictive nitrous oxide use&= Recent blood transfusion'= Ameliorated by colchicine&= Ameliorated by vitamin D/= !Exacerbated by phenytoin exposureB= 4Triggered by angiotensin-converting enzyme inhibitor'= Prostaglandin E1 exposure%= 5-fluorouracil exposure'= 6-mercaptopurine exposure = Isoniazid exposure,= Absent cavum septum pellucidum"= Fetal abdominal cyst$= Fetal bowel dilatation)= Left ventricular dilatation"= Fetal trigonocephaly0= "Abnormal fetal heart outflow tract)= Recent past medical history-= History of recent viral illness0= "History of recent dental procedure0= "Abnormal hepatic artery morphology(= Hepatic artery hyperplasia!= Lymph node necrosis#= Multinucleated neuron4= &History of recent contralateral injury$= Alternating laterality.= Cervical squamous cell papilloma= Liver leiomyoma)= Typified by high penetrance-= Typified by moderate penetrance(= Typified by low penetranceH= :Decreased Succinyl-CoA 3-ketoacid CoA transferase activityL= >Reduced phytanic acid oxidase activity in cultured fibroblasts3= %Reduced bifunctional protein activity== /Decreased circulating plasmalogen concentration?= 1Post-vaccination varicella zoster virus infection%= Recent steroid exposure= Shark teeth&= Pontine T2 hypointensity7= )Anti-platelet antigen antibody positivityF= 8Anti-voltage-gated potassium channel antibody positivity= Vegan diet@= 2History of previous pregnancy with hydrops fetalis2= $Ameliorated by potassium supplements#= Ameliorated by niacin2= $Aggravated by exposure to medication/= !Bleeding ameliorated by vitamin K.= Anti-retroviral therapy exposure1= #Potassium-wasting diuretic exposure/= !Tricyclic antidepressant exposure(= Excessive dental attrition)= Positionally dependent painG= 9Abnormal erythrocyte adenosine triphosphate concentrationF= 8Reduced erythrocyte adenosine triphosphate concentrationG= 9Elevated erythrocyte adenosine triphosphate concentration.= Spermatogonial maturation arrestH= :Elevated circulating neuron-specific enolase concentration:= ,Reduced leukocyte alpha-mannosidase activity>= 0Increased circulating alpha-mannosidase activity4= &Reduced leukocyte cathepsin D activityJ= = 0Abnormal enzyme activity in cultured fibroblastsf= XReduced heparan-alpha-glucosaminide N-acetyltransferase activity in cultured fibroblastsW= IReduced N-acetylgalactosamine-6-sulfate sulfatase in cultured fibroblasts\= NReduced acetylglucosamine-6-sulfate sulfatase activity in cultured fibroblastsD= 6Reduced erythrocyte porphobilinogen deaminase activityQ= CReduced holocarboxylase synthetase activity in cultured fibroblasts== /Abnormal circulating alpha mannosidase activityE= 7Reduced tissue alpha-N-acetylgalactosaminidase activity3= %Reduced erythrocyte arginase activitya= SReduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts6= (Reduced tissue beta-mannosidase activityW= IReduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblastsc= UReduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblastsT= FReduced erythrocyte galactose-1-phosphate uridylyltransferase activity?= 1Abnormal erythrocyte adenosine deaminase activityS= EReduced isovaleryl CoA dehydrogenase activity in cultured fibroblastsF= 8Reduced glycerol kinase activity in cultured fibroblasts;= -Increased circulating vitamin A concentration@= 2Elevated circulating hyaluronic acid concentration&= Diminished breath sounds*LK@Anti-AK5 antibody positivity,LKAAnti-AMPAR antibody positivity'LKBAnti-Amphiphysin antibody$LKCAnti-ARHGAP26 antibody%LKDAnti-CARP VIII antibodyLKE Anti-CASPR20LKF"Anti-CV2/CRMP5 antibody positivity LKGAnti-DPPX antibody,LKHAnti-FGFR3 antibody positivity$LKIAnti-GABA(A)R antibody$LKJAnti-GABA(B)R antibody!LKKAnti-GAD65 antibody$LKLAnti-Gephyrin antibody LKMAnti-GFAP antibody LKNAnti-GlyR antibody#LKOAnti-Homer-3 antibody)LKPAnti-Hu antibody positivity"LKQAnti-Iglon5 antibody!LKRAnti-ITPR1 antibody<LKS.Anti-Kelch like protein 11 antibody positivity LKTAnti-LGI1 antibody)LKUAnti-Ma antibody positivity*LKVAnti-Ma2 antibody positivity*LKWAnti-Ma1 antibody positivity"LKXAnti-mGluR1 antibody"LKYAnti-mGluR5 antibody6LKZ(Anti-neurexin-3alpha antibody positivity4LK[&Anti-P/Q-type VGCC antibody positivity!LK\Anti-MAP1B antibody$LK]Anti-PKCgamma antibodyLK^Anti-Ri antibody$LK_Anti-Septin-5 antibody"LK`Anti-SEZ6L2 antibody LKaAnti-SOX1 antibody#LKbAnti-Tr/DNER antibody"LKcAnti-TRIM46 antibody(LKdAnti-TRIM9/TRIM67 antibody)LKeAnti-Yo antibody positivity,LKfAnti-titin antibody positivity+LKgAnti-Zic4 antibody positivity5LKi'obsolete Anti-CRMP5 antibody positivityLKF$LKjAnti-Sj/ITPR1 antibody LKkAnti-D2 R antibody!LKlAnti-GluK2 antibody4LKm&obsolete Anti-MuSK antibody positivityv+LKnAnti-Lrp4 antibody positivity.LKo Anti-ryanodine receptor antibody!LKpAnti-Kv1.4 antibodyOXSelective mutism5OX'Limited repertoire of facial expression*OXExcessive interest in othersTOXFobsolete Reduced response to another's attempt to get direct attention1OXAbnormal pitch"OXDisjointed sentencesOX Neologism-OXOverly formal/pedantic language$OXMidline hand movements!OXAbnormal Intonation"OXAbnormal speech rate$OXAbnormal speech rhythm)OXAmbiguous facial expression+OXExaggerated facial expression%OXMuted facial expression)OXAbnormal peer relationships4OX&Steroetypic movements of face and head3OX%Steroetypic upper-extremity movements.OX Stereotypic whole-body movements)OXAbnormal interest in others$OXReduced social insight-OXReduced awareness of convention#OXAbnormal relationship0OX"obsolete Abnormal social awarenessOX'OXImpaired social imitation+OXInfrequent social initiations3OX%Reduced responsiveness to social cues"OXSocial disinhibitionTOXFDiminished integration of verbal and non-verbal communicative behavior3OX%obsolete Deferred imitation of othersOX<OX.obsolete Reduced immediate imitation of othersOX2OX$Reduced cooperative imaginative play<OX.obsolete Reduced responsiveness to verbal cuesOX'OXLack of expressed empathyOX Bradylalia%OXExcessively loud speech&OXExcessively quiet speech$OXAbnormal speech volume*OXReduced attention regulation%OXReduced impulse control,OXSensory behavioral abnormality#OXIdiosyncratic gestureOXAtypical sorting OXExcessive checking$OXExcessive hand washing9OX+Resistance to trivial environmental changesFOX8obsolete Reduced nonverbal responsiveness to verbal cuesOXCOX5obsolete Reduced verbal responsiveness to verbal cuesOX(OXReduced co-speech gestures-OXLimited head nodding or shakingOXLimited pointing&OXSensory hypersensitivityDOX6Sensory hyposensitivity unexplained by sensory deficit'OXAuditory hypersensitivity&OXTactile hypersensitivity&OXAuditory sensory seeking'OXGustatory sensory seeking'OXOlfactory sensory seeking%OXTactile sensory seeking(OXVestibular sensory seeking$OXVisual sensory seeking0OX"Socially inappropriate questioningOXSpinningOXDelayed Echolalia!OXImmediate Echolalia OXExcessive cleaning7OX)Facial expressions not directed to others,OXLimited Repertoire of gestures$OXReduced social smiling4OX&obsolete Reduced social responsiveness1OX Abnormal play-OXReduced imaginative play skills>OX0Nonfunctional or atypical use of objects in play5OX'Infrequent social engagement with peers-OXAvoidance of emotional intimacyIOX;Failure to offer information to initiate social interactionIOX;Difficulty understanding nonliteral meaning of conversation+OXPoor recognition of injustice7OX)Difficulty recognizing another's emotions,OXDifficulty understanding humor4OX&Abnormal social emotional interactions'OXObjectification of others8OX*obsolete Difficulty communicating emotionsz/OX!Abnormal response to social norms*OXIndifference to social norms'OXAggression towards others+OXAggression towards caregivers.OX Aggression toward non-caregiversFOY8obsolete Deficit applying language skills across contextOYAbnormal rituals$OYInsistence on samenessBOY4obsolete Reduced use of language for social purposes15OY'Atypical sensory examination of objects3OY%Intense attachment to unusual objectsOYJumpingAOY3Delay in the acquisition of cooperative play skills3OY%Reduced social reciprocity with peers>OY 0obsolete Infrequent social engagement with peersOX%OYHOlfactory hallucination%OYIGustatory hallucination9OYJ+Abnormal interpretation of external stimuli*OYKProprioceptive hallucination2OYL$Disturbed perception with a stimulusOYM Illusions&OYOInattentiveness illusion%OYPIllusions due to affectOYQ PareidoliaOYR Autoscopy'OYSSubjective eidetic images2OYT$Amplification of social interactions6OYU(Diminishment of emotional responsiveness#OYVSomatic hallucination$OYWVisceral hallucination'OYXAbnormal perceptual stateOYYDepersonalizationOYZ Derealization3OY\%Decreased facial expression mirroringBOY]4Diminishment of comfort with casual physical contactOYcThought blocking1OYf#Maladaptive fear-related cognitionsOYgHypervigilanceOYhPhobia"OYiAnticipatory anxietyOYjFlight of ideas8OYk*obsolete Disordered formal thought processd(OYmPronunciation difficulties)OYnVowel expressive impediment-OYoConsonant expressive impediment3OYp%Delayed spoken language comprehension,OYqRecurrent maladaptive behavior"OYrCognitive distortion0OYs"Abnormal change in social behaviorOYAbnormal demeanor+OYAbnormally increased volitionOYPressured speechOYLaeden paralysis/OY!obsolete Abnormal thought patterndOY GrandiosityOY HopelessnessOYAbnormal sadness*OYobsolete Abnormal motivationd&OYDecreased need for sleep/OY!Sleep-related breathing disorders"OYBruxism during sleep OYNightmare disorder+OYSleep-related eating disorderOY Microsleep%OYExploding head syndrome)OYREM sleep behavior disorder#OYNon-restorative sleepJOY[0History of urethral procedure or catheterization[Penile swelling;[-Reduced muscle alpha-1,4-glucosidase activity[ Brown tumor"[Dermal flame figures%[Postpartum exacerbation[Retinoid exposure'[Propylthiouracil exposure+[History of outdoor activities*[Draining sinus tract in skin([Corneal transplant history.[ Spontaneous lens capsule rupture![Contact lens wearer'[Airway mucosal thickeningG[9Hyperpolarized transepithelial nasal potential difference'[Corneopalpebral synechiae*[Breast intraductal papilloma[Precipitous labor[Twin pregnancy[ Vaginal mass-[Costovertebral angle tenderness([Cervical motion tenderness'[Abnormal penile discharge1[#Supernumerary finger flexion crease&[Large joint predominance[ Monoarticular([Hockey-stick palmar crease6[(Elevated urinary succinyladenosine level:[,Elevated urinary 5-hydroxymethyluracil level.[ Decreased urine creatinine level1[#Elevated urinary deoxyuridine level;[-obsolete Elevated urinary AICA-riboside level2[$Elevated urinary dihydrouracil level3[%Elevated urinary dihydrothymine level.[ Elevated urinary sulfatide level5['Elevated urinary xanthurenic acid levelN[@Increased urinary N-acetylglucosamine-rich oligosaccharide level6[(Elevated urinary 2'-deoxyadenosine level<[.Positive 2,4-dinitrophenylhydrazine urine test-[Elevated urinary dolichol level/[!Decreased urinary bile acid level8[*Elevated urinary creatine/creatinine ratio.[ Elevated urinary thymidine level4[&Elevated urinary glutarylglycine level,[Elevated urinary indican level[ DacrolithM[?Reduced erythrocyte gamma-glutamyl cysteine synthetase activityf[XDecreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activityT[FReduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts[Low semen volume [Elbow localization[ Enlarged lunula[ Heel localization"[ Splinter hemorrhages[ Lateral thrust [ Cerebral contusion[Fecolith[ Appendicitis'[Left ventricular aneurysm,[Boot-shaped cardiac silhouette[ Hydrosalpinx8[*Elevated methylhex-dienedioic level by MRS%[Perihepatic enhancement9[+Reduced in vitro contracture test threshold&[Reduced F-wave amplitude"[Enlarged peroxisomes([Adrenocortical hyperplasia;[-Lymphocytic infiltration of the parotid gland#[Bone marrow granuloma4[&Neuronal intranuclear inclusion bodies [Pancreatic atrophy6[(Decreased pancreatic acinar cell densityK[=Unesterified cholesterol accumulation in cultured fibroblasts9[+Hepatic lipid-laden macrophage infiltration9[ +Splenic lipid-laden macrophage infiltrationA[!3Reduced hepatic N-acetylglutamate synthase activity,["Excessive licorice consumption#[#Shoulder localization=[$/Pregnancy conceived despite intrauterine device([%Maternal folate deficiency&[&Maternal zinc deficiency(['Use of intrauterine device7[()History of recent central venous catheter>[)0History of total parenteral nutrition dependence3[*%Pain alleviated by testicle elevation![+Abdominal wall mass'[,Tympanic membrane bulgingB[-4Ear pain exacerbated by manipulating tragus or pinna[.Lateral neck mass [/Occipital location$[0Anterior neck swelling[1Uvular swelling1[2#Purulent drainage from Stensen duct/[3!History of gastric bypass surgery5[4'Triggered by volatile organic compounds*[5History of radiation therapy*[6Absent otoacoustic emissions)[7Thickened tympanic membrane$[8Filum terminale lipoma[[9MLow tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratioK[:=Anti-soluble liver antigen/liver pancreas antibody positivityQ[;CAnti-thrombospondin type I domain-containing 7A antibody positivity+[<Antisperm antibody positivity;[=-Decreased circulating ficolin 3 concentration1[>#Abnormal seminal vesicle morphology"[?Seminal vesicle cyst"[@Silica dust exposure6[A(Anti-osteoprotegerin antibody positivity&[BHistory of adrenalectomyG[C9Elevated mitochondrial citrate synthase synthase activity;[D-Reduced muscle lactate dehydrogenase activity=[E/Reduced muscle phosphoglycerate mutase activity:[F,Reduced muscle phosphorylase kinase activity_[GQReduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts<[H.Reduced hepatic glucose-6-phosphatase activityF[I8Reduced hepatic glucose-6-phosphate translocase activity.[J Cerebrospinal fluid erythrocytes4[K&Elevated CSF cholestanol concentration9[L+Elevated CSF apolipoprotein B concentration=[M/Elevated CSF myelin basic protein concentration>[N0Reduced CSF pyridoxal-5'-phosphate concentration0[O"Elevated CSF thymine concentration>[P0Elevated CSF 5-hydroxymethyluracil concentrationM[Q?Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration@[R2Elevated CSF N-carbamyl-beta-alanine concentration6[S(Elevated CSF dihydrouracil concentration7[T)Elevated CSF dihydrothymine concentrationN[U@Elevated circulating Angiotensin-converting enzyme concentrationC[V5Decreased 3-hydroxyisobutyrate dehydrogenase activityL[W>Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activityD[X6Reduced HMG-CoA lyase activity in cultured fibroblasts;[Y-Reduced circulating acyl-CoA oxidase activity;[Z-Reduced circulating xanthine oxidase activity`[[RReduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts[\Pharyngeal mass.[] Positive stool occult blood test [^Painful defecation;[_-Recent history of caustic substance ingestion)[`Delayed passage of meconium'[aSingle second heart sound=[b/Elevated aortic transvalvular pressure gradient$[cProsthetic heart valveE[d7Failure to increase oxygen saturation on hyperoxia test[eHigh-set nipples/[f!Decreased muscle caveolin-3 level>[g0Abnormal tissue enzyme concentration or activity[hSplenic necrosis-[iCarcinoid tumor of the pancreasK[j=Elevated circulating dihydroxyphenylacetic acid concentration?[k1Inappropriately low concentration of acetoacetateG[l9Inappropriately low concentration of beta-hydroxybutyrateK[m=Elevated circulating 3-hydroxybutyryl-carnitine concentrationH[n:Elevated CSF 5-amino-4-imidazolecarboxyamide concentrationL[o>Elevated circulating tumor necrosis factor alpha concentrationJ[p[0Elevated circulating glycylproline concentrationB[4Elevated circulating octanoylcarnitine concentrationB[4Elevated circulating decanoylcarnitine concentration-[2--hydroxyphenylacetic aciduria,[4-hydroxyphenyllactic aciduria:[,obsolete Elevated urinary beta-alanine levelNo5['Elevated CSF beta-alanine concentrationC[5Elevated circulating 2-aminoadipic acid concentration=[/Elevated urinary N-carbamoyl-beta-alanine level6[(Elevated CSF cystathionine concentration@[2Elevated urinary gamma-glutamylphenylalanine levelD[6Elevated circulating aspartylglucosamine concentration1[#Elevated urinary saccharopine level&[Tectal plate enlargement"[Retroperitoneal mass4[&Focal T1 hyperintense brainstem lesion"[Subchondral fracture[Deep neck abscess$[Epiglottic enlargement,[Prevertebral space enlargement,[Third cranial nerve thickening9[+Elevated tissue sphingomyelin concentrationF[8History of recent iodated contrast medium administration1[#Difficulty passing nasogastric tube-[Persistent falcine venous sinus![Penis uncircumcised,[History of facial cosmetic use=[/Snapping sensation at metacarpophalangeal joint[Forearm![Rotational fracture-[Localized over bony prominences-[History of compressive footwear#[Decreased skin turgor1[#Recent foraged mushroom consumption,[Proximal to distal progressionB[4Autonomic-voluntary dissociation of facial movements[Jaw mass0["Excessive nocturnal light exposure@[2Menstruating female between menarche and menopause4[&Preterm premature rupture of membranes*[History of abdominal surgery)[Thickened Descemet membrane2[$Incomplete right bundle branch block"[Perimenopausal onset"[Postmenopausal onset [Spastic monoplegia0["Mosaic attenuation pattern in lung.[ Elevated aldosterone:renin ratio[ Meteorism=[/Failure to elevate ammonia on ischemic exercise![Labile HypertensionN[@Absent axon flare response after intradermal histamine injectionG[9Reduced sympathoneural responses to the cold pressor test1[#Positive stool Giardia antigen test2[$Excessive blood loss during delivery'[Cardiac valve vegetations$[Thoracic cage flatness#[Absent zona pellucida%[Umbilical cord prolapseW[IIncreased ratio of deoxypyridinoline to pyridinoline cross-links in urine,[Elevated urinary thymine level6[(Elevated urinary indoleacetic acid level;[-Reduced hepatic phosphorylase kinase activityA[3Reduced hepatic ornithine transcarbamylase activity4[&Elevated urinary quinolinic acid level [Rectal duplication-[Thinned small intestinal mucosa([Seminal vesicle hypoplasia1[#Small fetal abdominal circumference*[Prenatal flattened diaphragm1[#Snowflake effect in amniotic cavity)[Thickened mitral valve cusp3[%Antiparietal cell antibody positivity7[)Anti-intrinsic factor antibody positivityC[5Anti-human immunodeficiency virus antibody positivity2[$Anti-polio virus antibody positivity+[Anti-NR2A antibody positivity4[&Antistreptolysin O antibody positivityA[3Reduced tissue tissue AICAR transformylase activity:[,Ameliorated by gastric acid-reducing therapy9[+Anti-coagulation factor antibody positivity[ TachyphagiaB[4Reduced tissue argininosuccinate synthetase activityE[7Reduced aspartoacylase activity in cultured fibroblastsP[BReduced malonyl-CoA decarboxylase activity in cultured fibroblastsI[;Reduced tissue medium-chain acyl-CoA dehydrogenase activityR[DReduced cystathionine beta-synthase activity in cultured fibroblasts<[.Reduced muscle glycogen phosphorylase activity;[-Reduced muscle 6-phosphofructokinase activityC[5Reduced tissue alpha-N-acetylglucosaminidase activity][OReduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblastsJ[[0Elevated circulating soluble CD163 concentration+[Positive cold agglutinin test*[Anti-D-L antibody positivity6[(Anti-erythrocyte autoantibody positivity5['Non-glucose reducing substance in urineP[BElevated urinary succinylaminoimidazole carboxamide riboside level2[$Elevated urine hyaluronic acid level;[-Elevated urinary methylmalonylcarnitine level>[ 0Elevated urine trihydroxycholestanoic acid level0[ "Elevated CSF ammonia concentration$[ Positive CSF VDRL test=[ /Elevated CSF guanidinoacetic acid concentration4[ &CSF oligoclonal immunoglobulin G bandsQ[CDecreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentrationA[3Elevated CSF alpha-crystallin B chain concentration0["Reduced CSF creatine concentration9[+Reduced circulating protein Z concentrationF[8Elevated circulating 27-hydroxycholesterol concentrationH[:Elevated circulating lysophosphatidylcholine concentrationL[>Reduced circulating insulin-like growth factor 2 concentrationS[EDecreased circulating nicotinamide adenine dinucleotide concentrationc[UDiminished circulating reduced nicotinamide adenine dinucleotide (NADH) concentrationL[>Elevated circulating fibroblast growth factor 23 concentration2[$Reduced CSF asparagine concentration[Pancreatic mass"[Small intestine mass&[Facial nerve compression([Pulmonary perfusion defect&[Ectopic ureteral orifice&[Duplicate uterine cervix&[Intradural spinal lipoma/[ !T2 hyperintense cerebellar lesion,[!Inferior vena cava obstruction["Rheumatoid nodule;[#-Elevated circulating proinsulin concentration#[$Burning eye sensation[% Collarettes%[&Tympanic membrane bulla-['Beard and mustache distribution[(Kerion[)Truncal locationj[*\Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts_[+QReduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts-[,Glomerular fibronectin deposits'[-Renal tubular karyomegaly<[..Reduced tissue acetyl-CoA carboxylase activity2[/$Elevated urinary glycolic acid level1[0#Elevated urine propionic acid level1[1#Elevated urinary butyric acid level4[2&Elevated urinary isovaleric acid levelD[36Elevated circulating alpha-ketoglutarate concentration8[4*Elevated circulating ghrelin concentrationA[53Reduced circulating stearoylcarnitine concentration*[6Reduced urinary iodine level@[72Increased circulating interleukin 15 concentration8[8*Reduced circulating squalene concentration>[90Abnormal circulating interleukin 6 concentration?[:1Abnormal circulating interleukin 12 concentration2[;$Elevated blood mercury concentration2[<$Elevated blood cadmiun concentration-[=Elevated thallium concentration=[>/Abnormal circulating CC chemokine concentrationB[?4Decreased CSF asialotransferrin to transferrin ratio2[@$Anti-desmocollin antibody positivity@[A2Occupational exposure to raw nonsynthetic textiles4[B&Rokitansky-Aschoff gallbladder sinuses#[CPorcelain gallbladder#[DGallbladder adhesions#[EBilioduodenal fistula[F Pneumobilia[GEctopic gallstone[HSleep drunkeness[IMallory bodies'[JSulfur-containing abscess)[KRetracted tympanic membrane[LEctopic testis'[MCerebral subcortical cyst/[N!Anti-ADAMTS13 antibody positivity&[OHabitual mouth breathing#[PSquared off shoulders1[Q#Elevated urine mesaconic acid level6[R(Elevated urine 3-methyladipic acid level,[SElevated urine D-lactate level<[T.Elevated CSF alpha-ketoglutarate concentrationF[U8Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level[VFetal oral mass&[WDilated ejaculatory duct][XODecreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells5[Y'Decreased FOXP3-expressing T cell countE[Z7Elevated circulating complement component concentration2[[$Anti-beta fodrin antibody positivityG[\9Elevated circulating tetradecenoylcarnitine concentrationE[]7Elevated urine 2-trans,4-cis-decadienoylcarnitine levelS[^EElevated circulating 2-trans,4-cis-decadienoylcarnitine concentration3[_%Elevated urine N-acetyltyrosine level,[`Elevated urine manganese level-[aReduced urinary manganese level?[b1Decreased circulating catecholamine concentration![cEmpty sella turcica:[d,Elevated brain guanidinoacetate level by MRSL[e>Elevated circulating beta chorionic gonadotropin concentration7[f)Elevated circulating CXCL10 concentration>[g0Reduced circulating interleukin 12 concentrationK[h=Reduced circulating fibroblast growth factor 23 concentrationL[i>Abnormal circulating fibroblast growth factor 23 concentration+[jImpaired heel-walking ability2[k$Anti-prothrombin antibody positivity/[l!Anti-factor V antibody positivity1[m#Anti-factor VII antibody positivity2[n$Anti-factor VIII antibody positivity0[o"Anti-factor IX antibody positivity/[p!Anti-factor X antibody positivity0[q"Anti-factor XI antibody positivity2[r$Anti-factor XIII antibody positivity/[s!Anti-factor H antibody positivity'[tExtremities cold to touch[uRuffled acrosome=[v/Elevated circulating calprotectin concentration*[w4-5 toe cutaneous syndactyly[xPoly-hill sign-[y3-5 finger cutaneous syndactyly$[zRadioulnar subluxation[{Non-pitting edema=[|/Anti-human ferritin peptide antibody positivityA[}3Elevated CSF L-2-hydroxyglutaric acid concentrationE[~7Elevated erythrocyte inosine triphosphate concentrationA[3Reduced erythrocyte inosine triphosphatase activityG[9Reduced circulating alpha-1,3-fucosyltransferase activity<[.Diminished neutrophil myeloperoxidase activityJ[[0Reduced circulating lipoprotein(a) concentration/[!Increased urinary bile acid level.[ Abnormal urinary bile acid level@[2Reduced erythrocyte glutathione reductase activityD[6Failure to elevate lactate upon ischemic exercise test<[.Elevated circulating cholestanol concentration [Livestock exposure&[Synchronous skin lesions&[Serpentine skin location5['Abnormal urinary organic compound level.[ Elevated urinary histamine level6[(Elevated urinary N-methylhistamine level9[+Elevated urinary ureidopropionic acid level.[ Elevated urinary porphyrin level3[%Elevated urinary coproporphyrin level.[ Ecrrine sweat gland predominance+[Poorly demarcated skin lesion([History of recent cat biteN[@History of recent stay in area with inadequate sewage sanitationG[9Positive cutaneous herpes simplex virus nucleic acid testG[9Positive CSF mycobacterium tuberculosis nucleic acid test0["Positive mycobacterium CSF culture3[%Positive mycobacterium CSF microscopyK[=Positive treponema pallidum PCR test in the blood circulation^[PPositive human Immunodeficiency virus nucleic acid test in the blood circulation8[*Positive CSF enterovirus nucleic acid testA[3Positive CSF Borrelia burgdorferi nucleic acid test6[(Positive CSF arbovirus nucleic acid testU[GPositive Bartonella henselae nucleic acid test in the blood circulationE[7Positive Dengue virus PCR test in the blood circulation5['Positive CSF JC-virus nucleic acid test*[Bloodstream Malaria parasiteS[EPositive bloodstream plasmodium falciparum nucleic acid pathogen testO[ADecreased erythrocyte fructose-1,6-bisphosphate aldolase activityD[6Reduced circulating dopamine beta-hydroxylase activityE[7Reduced erythrocyte bisphosphoglycerate mutase activity;[-Reduced erythrocyte adenylate kinase activity5['Reduced erythrocyte hexokinase activity?[1Decreased circulating carboxypeptidase N activity8[*Elevated red cell pyruvate kinase activity@[2Reduced circulating adenosine deaminase-2 activityL[>Reduced sepiapterin reductase activity in cultured fibroblastsN[@Elevated circulating vasoactive intestinal peptide concentrationD[6Elevated circulating cholesterol sulfate concentration>[0Elevated circulating lipoprotein X concentration8[*Elevated circulating oxalate concentration:[,Elevated blood ethylene glycol concentration+[Midline notching of lower lip=[/Reduced tissue thymidine phosphorylase activity=[/Reduced tissue tripeptidyl peptidase 1 activityI[;Reduced tissue arginine:glycine amidinotransferase activity=[/Reduced tissue aspartylglucosaminidase activityI[;Reduced tissue carnitine-acylcarnitine translocase activityN[@Reduced circulating 6-pyruvoyltetrahydropterin synthase activityJ[[0Positive oropharynx poliovirus nucleic acid test<[.Positive synonvial fluid infectious agent test.[ Positive synonvial fluid culture0["Positive synovial fluid gram stain1[#Anti Parvovirus antibody positivity+[Brain parenchymal tuberculoma/[!Muscle arteriovenous malformation-[Bone arteriovenous malformation"[Periosteal elevation![Esophageal dilation[ Spinal lipoma![Loose body in joint3[%Paraspinal arteriovenous malformation'[Supernumerary tarsal bone[Maxillary cyst[Mandibular cyst,[Sixth cranial nerve hypoplasia,[Third cranial nerve hypoplasia4[&Elevated urinary succinylacetone level4[&Elevated urinary 2-oxoisocaproic level6[(Elevated urinary 2-oxovaleric acid level=[/Elevated urinary 2-hydroxyisocaproic acid level6[(Elevated urinary isovalerylglycine levelC[5Elevated urinary 2-methyl-3-hydroxybutyric acid level<[.Elevated urinary 3-hydroxypentanoic acid level;[-Elevated urinary 7-hydroxyoctanoic acid level4[&Elevated urinary D-glyceric acid level=[/Elevated urinary 3-hydroxyisobutyric acid level>[0Elevated urinary 3,4-Dihydroxybutyric acid level9[+Elevated urinary 3-hydroxyadipic acid levelF[8Elevated erythrocyte galactose-1-phosphate concentration;[-Elevated circulating chitotriosidase activity)[Squamosal suture synostosis"[Enlarged fetal lungs"[Orbital inflammationb[TReduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts@[2Reduced muscle glycogen debrancher enzyme activity@[2Reduced tissue UDP-glucuronyl-transferase activity)[Temporal artery giant cellsX[JReduced phosphoenolpyruvate carboxykinase activity in cultured fibroblastsE[7Elevated urinary pyrroline hydroxycarboxylic acid level;[-Elevated urinary N-tau-ribosylhistidine level:[,Elevated urinary ureidoisobutyric acid levelI[;Elevated urinary N-carbamyl-beta-aminoisobutyric acid level*[Nipple epidermal Paget cells0["Penile corporal blood gas ischemia+[Recent temporal region trauma[Rest limb pain3[%Scalloped appearance of liver surface[Nipple thickening$[Hypoechoic breast mass%[Unilocular ovarian cyst [Mesenteric torsion'[High-pitched bowel sounds.[ Exacerbated by opiate medication[Breast granuloma-[Exposure to cosmetic fragrancesW[ISweating and flushing in the preauricular area in response to mastication;[-Reduced hepatic glyoxylate reductase activity3[%PAS-positive lymphocyte vacuolization1[#Lipid-laden bone-marrow macrophages%[Bone marrow monocytosis [Sunflower cataract.[ Anti-lamin A antibody positivity.[ Anti-lamin C antibody positivity/[!Anti-vinculin antibody positivity1[#Anti-annexin A5 antibody positivity [Bulging fontanelle*[3-4 toe cutaneous syndactyly[ Triangular nail,[ Distal tibiofibular synostosis.[ Abnormal metacarpal ossification[ Rib spur([ Crescent-shaped iliac bone+[Abnormal ischium ossification#[Femoral neck fracture<[.Papillary dermis eosinophilic hyaline material@[2Pancreatic intraductal papillary mucinous neoplasm&[Medium vessel vasculitis>[0Elevated muscle fiber laminin alpha 5 expression [Paravertebral mass[ Phlebolith[Bladder rupture+[Elevated myocardial iron load@[2Right ventricular regional wall motion abnormality1[#Right ventricular regional akinesia3[%Right ventricular regional dyskinesia([Right ventricular aneurysm2[$Glomerular immune-complex deposition8[*Glomerular PLA2R immune-complex deposition0["Elevated urinary L-glycerate level[ Breast myxoma![ Ovarian cystadenoma>[!0Abnormal CSF N-acetylaspartic acid concentration?["1Decreased CSF N-acetylaspartic acid concentration7[#)Elevated urinary mevalonate lactone level<[$.Anti-von Willebrand factor antibody positivity0[%"Elevated natural killer cell count7[&)Myositis-specific autoantibody positivity'['Abnormal serum osmolality"[(Low serum osmolality#[)High serum osmolality.[* History of compressive dressings+[+Triggered by overhead motions[,Radiating pain![-Mitral opening snap[.Mucus in stool5[/'Elevated circulating CCL3 concentration5[0'Elevated circulating CCL4 concentration7[1)Elevated CSF 14-3-3 protein concentration9[2+Elevated CSF dihydrobiopterin concentration"[3Left atrial fibrosisW[4IAbnormal circulating atrial natriuretic peptide pro-hormone concentration9[5+Reduced circulating NT-proANP concentrationN[6@Elevated circulating 1-pyrroline-5-carboxylic acid concentrationS[7EReduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activityU[8GElevated circulating N-carbamyl-beta-aminoisobutyric acid concentration0[9"Low tissue ferrochelatase activityG[:9Elevated circulating heptacarboxylporphyrin concentration([;Aggravated by menstruation4[<&Reduced breast milk zinc concentration.[= Elevated urinary bile acid level3[>%Elevated urinary glyoxylic acid levelJ[?[N0Decreased liver bile salt export pump expressionF[O8Reduced tissue type II iodothyronine deiodinase activityB[P4Reduced tissue fatty aldehyde dehydrogenase activityB[Q4Decreased circulating pancreatic isoamylase activityH[R:Reduced tissue guanidinoacetate methyltransferase activity8[S*Reduced erythrocyte galactokinase activity[T Auspitz sign [USalty tasting skin[V Scalp nodule3[W%History of undercooked pork ingestion/[X!History of recent rodent exposure&[YPositive CSF fungus testP[ZBPositive CSF human T-lymphotropic virus type I antibody positivityD[[6Positive chlamydia trachomatis urine nucleic acid testH[\:Anti-streptococcus deoxyribonuclease-B antibody positivityC[]5Positive streptococcus A rapid antigen detection test5[^'Positive synovial mycobacterial culture?[_1Positive mycobacterial synovial nucleic acid testE[`7Positive bloodstream babesia nucleic acid pathogen test9[a+Positive bloodstream influenza nucleic testH[b:Positive bloodstream parainfluenza virus nucleic acid test?[c1Positive bloodstream adenovirus nucleic acid test=[d/Anti-Francisella tularensis antibody positivityE[e7Positive bloodstream MERS coronavirus nucleic acid testS[fEPositive nasopharyngeal corynebacterium diphtheriae nucleic acid test![gPediculosis capitis0[h"Premature glabellar skin wrinkling3[i%Flexural reticulate hyperpigmentation4[j&Elevated fractional excretion of urate-[kAbnormal urinary creatine level.[l Decreased urinary creatine level\[mNElevated circulating type I procollagen aminoterminal propeptide concentrationH[n:Decreased tissue S-adenosylhomocysteine hydrolase activity.[o Decreased urinary dopamine level>[p0Elevated erythrocyte AICA-ribotide concentrationB[q4Elevated circulating monomethyl sterol concentration@[r2Elevated circulating dimethyl sterol concentrationW[sIElevated circulating C-terminal fibroblast growth factor 23 concentration?[t1Elevated urinary 5-hydroxyindoleacetic acid level<[u.Elevated circulating thiosulfate concentrationR[vDElevated circulating interleukin 1 receptor antagonist concentration<[w.Positive CSF West Nile virus nucleic acid testA[x3Positive CSF herpes simplex virus nucleic acid test4[y&Positive CSF cryptococcal antigen test+[zPosiitive rubella CSF culture?[{1Positive CSF treponema pallidum nucleic acid test5[|'Decreased CSF tetrahydrobiopterin levelE[}7Decreased CSF N-acetyl-aspartyl-glutamate concentrationB[~4Positive CSF Tropheryma whipplei bacteria microscopy0["CSF treponemal antibody positivity[Echophenomenon/[!Paracentral hyper-autofluorecence%[Fixed fetal extremities:[,Abnormal peripapillary microvascular network[ Auriculitis>[0Recent history of moisture in external ear canal<[.History of recent trauma to external ear canal/[!Elevated urinary 4-tyramine levelD[6Elevated circulating 3-hydroxykynurenine concentration/[!Posterior vertebral body notching1[#Cone-shaped distal tibial epiphysis'[Osteoporotic femoral neck![Olanzapine exposure8[*Reduced tissue phosphomannomutase activity>[0Reduced tissue phosphomannose isomerase activityD[6Reduced tissue palmitoyl-protein thioesterase activity-[Maternal household cat exposure[Protein craving6[(Absent superficial temporal artery pulse)[Basilar artery fenestrationN[@Displacement of the extensor tendon in metacarpophalangeal joint[Heloma&[Exacerbated by pronationM[?Distortion of the anterior part of the interhemispheric fissure9[+Positive lacrimal tract actinomyces culture[Eschar8[*History of wearing tightly fitted clothing6[(Anti-folate receptor antibody positivity,[Positive bloodstream VDRL test;[-Positive bloodstream rapid plasma reagin test7[)Positive bloodstream HIV p24 antigen test4[&Positive Quantiferon tuberculosis test:[,Tzanck smear with multinucleated giant cells$[Positive Mazzotti testI[;Positive bloodstream Tropheryma whippelii nucleic acid test9[+Elevated urinary 2,8-dihydroxyadenine level+[Elevated urine fructose level1[#Elevated urinary uroporphyrin level9[+Elevated urinary phosphohydroxylysine level-[Cervical C6/C7 vertebrae fusion&[Periumbilical depression%[Thickened tibial cortex&[Thickened femoral cortex,[Thickened cortex of the radius*[Thickened cortex of the ulna_[QElevated circulating aspartate aminotransferase to alanine aminotransferase ratio1[#Temporomandibular joint dislocation[Amyloid goiter)[Prominent lesser trochanter[Melorheostosis-[Transverse terminal limb defect>[0Elevated circulating beta-glucuronidase activity%[Elevated osmolality gap=[/Elevated circulating bile alcohol concentration4[&Elevated CSF tetrahydrobiopterin levelC[5Elevated CSF 5-hydroxyindoleacetic acid concentration.[ Cerebrospinal fluid eosinophiliaD[6Reduced C27 3beta-HSD activity in cultured fibroblastsh[ZReduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblastsF[8Diminished tissue fumarylacetoacetate hydrolase activity1[#Reduced tissue peptidase D activity=[/Reduced tissue glycine cleavage enzyme activity[[MDiminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblastsL[>Increased circulating dihydroxycholestanoic acid concentration:[,Reduced tissue phosphorylase kinase activity,[Hyperkalemia while symptomatic;[-Elevated urinary gamma-glutamylcysteine level0["Positive CSF mycobacterial cultureC[5Positive respiratory tract nucleic acid pathogen testQ[CPositive respiratory tract SARS-CoV-2 coronavirus nucleic acid test9[+Positive fecal cryptosporidium antigen test-[Horizontal position of testicle9[+Localized soft-tissue swelling on extremity([Abnormal scleral thickness,[Multiple eyelid beaded papules)[Nonexudative conjunctivitis [Nematode in retina>[0Vascular compression of the eighth cranial nerve[Beaded bile ducts[ Cardiac mass([Superior olive hypertrophy.[ Spinal extradural arachnoid cyst*[Temporal cortex localization+[Basilar meningeal enhancement[ Megacolon[ Thyroid cyst9[+Decreased circulating sulfate concentration[Cold intolerance([Head and neck distribution$[Symmetric distribution.[ Muscle extensor surface location[Dermal foam cellsO[ADiminished tissue very long-chain acyl-CoA dehydrogenase activityB[4Diminished tissue glycogen branching enzyme activity[Parotid adenoma<[.Elevated serum-ascites albumin gradient (SAAG)[Transverse smile-[Hyperphalangy of the 4th finger<[.Delayed distal femoral epiphyseal ossification4[&Delayed tibial epiphyseal ossification[Toe hyperphalangy[Sclerotic ilium+[Metaphyseal chevron deformity#[Popcorn calcification0["Aplasia/Hypoplasia of the calvaria[ Bowdler spurs2[$Delayed ossification of the clavicle#[Wide sacroiliac joint@[2Anti-Glutamate Receptor delta2 antibody positivityN[@Anti-dachshund family transcription factor 1 antibody positivity][OAnti-potassium channel tetramerization domain containing 16 antibody positivityI[;Anti-regulator of G protein signaling 8 antibody positivity4[&Anti-neurochondrin antibody positivity<[.Anti-DCC netrin 1 receptor antibody positivity0["Anti-recoverin antibody positivity=[/Recent history of sedation by propofol infusion#[Enlarged humeral head"[Enlarged radial head.[ Enlarged distal tibial epiphysis2[$Elevated blood bismuth concentration*[Elevated urine bismuth level1[#Distal radioulnar joint dislocation3[%Proximal radioulnar joint dislocation/[!Absent toe phalanx flexion crease([White matter globoid cells[ Gaucher cells[Breast adenoma%[Breast apocrine adenoma'[Fibrocystic breast lesion[Pancreatic VIPoma%[Gastric carcinoid tumor([Posiitve skin scabies testD[6Positive mumps virus PCR test in the blood circulationc[UPositive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay:[,Positive blood Neisseria gonorrhoeae culture,[Anti-mumps antibody positivity4[&Positive Vibrio cholerae stool cultureI[ ;Positive cutaneous varicella zoster virus nucleic acid test7[ )Positive bloodstream cryptococcus cultureG[ 9Positive bloodstream Borrelia miyamotoi nucleic acid testL[ >Positive bloodstream Coxsackievirus nucleic acid pathogen test9[ +Positive stool Cryptosporidium antigen test<[.Diminished tissue alpha-L-iduronidase activity3[%Reduced tissue neuraminidase activity [Nummular keratitis)[Swelling of inguinal region[ Single lesion[Dysorthography#[Echogenic fetal colon[Bone marrow edema3[%Transverse terminal upper limb defect[Trousseau sign2[$Craniocervical junction constriction[Fibular torsion2[$Abnormal finger phalanx ossification4[&Positive bloodstream EBV monospot test@[2Positive CSF Toxoplasma gondii antibody positivity+[Positive tuberculin skin test9[+Anti-Treponema pallidum antibody positivityC[5Positive CSF Borrelia burgdorferi antibody positivity7[ )Positive CSF JC-virus antibody positivity@[!2Neutralizing anti-rabies virus antibody positivity?["1Impaired hepatobiliary scintigraphy tracer uptake([#Calcified pulmonary nodule'[$Postprandial exacerbation [%Koebner Phenomenon[&Glenoid dysplasia5[''Prolonged retraction of penile foreskin.[( Thickened cortex of the clavicle.[) Thickened cortex of the mandible&[*Thumb hypoplasia grade 1&[+Thumb hypoplasia grade 2'[,Thumb hypoplasia grade 3A'[-Thumb hypoplasia grade 3B&[.Thumb hypoplasia grade 4%[/Femoral osteopoikilosis[0 Carotidynia4[1&Asymmetric blood pressure between arms3[2%Transverse terminal lower limb defect$[3Hemimelia of lower leg"[4Hemimelia of forearm9[5+Sodium glucose transport inhibitor exposure"[6Breath-holding spell/[7!Flared proximal tibial metaphysis.[8 Delayed toe phalanx ossification [9Sorbitol ingestion9[:+Positive peritoneal fluid bacterial culture/[;!Ocular cystine crystal deposition*[<Exuberant granulation tissue![=Oral mucosal papule$[>Excessive piloerection[? Scalp edema [@Serpiginous burrow<[A.Positive brain-tissue rabies nucleic acid testO[BAPositive respiratory tract Bordetella pertussis nucleic acid test@[C2Demonstration of acid-fast bacilli in wound tissue=[D/Positive tissue encapsulated budding yeast test8[E*Positive tissue coccidioidomycosis cultureC[F5Diminished tissue dihydropteridine reductase activityB[G4Decreased circulating transcobalamin I concentrationG[H9Diminished circulating cationic trypsinogen concentration;[I-Diminished circulating hyaluronidase activityJ[JElevated circulating trihydroxycholestanoic acid concentration?[N1Elevated circulating glyoxylic acid concentration4[O&Elevated CSF sepiapterin concentration+[PIntrahepatic inclusion bodies[QMuscle vacuoles([RNonrimmed muscule vacuoles=[S/Reduced hepatic glycogen phosphorylase activity*[TBone marrow hemophagocytosis$[USplenic granulomatosisF[V8Immediate detumescence of penis at time of symptom onset1[W#History of aortic valve replacement-[XCoved type ST segment elevation3[Y%Saddle-back type ST segment elevationF[Z8Substantially elevated circulating ethanol concentration0[["Tortuous appearance of the stomach$[\Cochlear nerve aplasia)[]Slit-like lateral ventricle,[^Fetal methamphetamine exposureF[_8Elevated circulating 4-hydroxybutyric acid concentration>[`0Elevated urinary 2,4-dihydroxybutyric acid levelF[a8Pupillary hypersensitivity to parasympathomimetic agents>[b0Lack of pupillary response to hydroxyamphetamine([cSubcortical U fiber lesion+[dIntraspinal extradural lipoma[eIntranasal mass Liver rupture,[gElevated urinary mandelic acid-[hElevated urine malic acid level8[i*Elevated urine 3-hydroxysebacic acid level5[j'Elevated urinary vanillactic acid level=[k/Elevated urine 4,5-dihydroxyhexanoic acid level;[l-Elevated urine hydroxyphenyllactic acid level:[m,Positive gastric CMV intranuclear inclusions=[n/Elevated urine dihydroxycholestanoic acid level1[o#Elevated urinary bile alcohol level:[p,Elevated urine glucose tetrasaccharide level<[q.Increased urine 4-hydroxy-2-oxoglutarate level([rInability to protrude lips[s Wet voice![tErythema marginatum[uMechanic's hands[v Hiker's feet-[wAnti-HLA-DQ antibody positivity8[x*Inappropriate normal or low erythropoietin$[yRapid gastric emptying2[z$Mediastinal lymph node calcification3[{%Eggshell calcification of lymph nodes![|Knee joint effusion$[}Subcutaneous emphysema/[~!Elevated bone scintigraphy uptakeX[JDiminished long-chain-enoyl-CoA hydratase activity in cultured fibroblastsV[HDiminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts)[Pathological inclusion bodyB[4Reduced epidermal collagen IV alpha 5 chain stainingX[JDiminished glomerular basement membrane collagen IV alpha 3 chain stainingX[JDiminished glomerular basement membrane collagen IV alpha 4 chain stainingX[JDiminished glomerular basement membrane collagen IV alpha 5 chain staining5['obsolete Peripheral nerve metachromasia[%[Cystine nephrolithiasis*[Hepatic cystine accumulation.[ Bone marrow cystine accumulation[ Desmoid tumor)[Tubular jejunal duplication&[Left ventricular rupture7[)Punctate pontine perivascular enhancement[Intestinal worm[ Scrotal worm&[Small intestinal adenoma'[Maternal retinal mottling)[Twisted gallbladder pedicle'[Cholecyst-enteric fistula[Dyschronometria:[,History of recent intermittent breastfeeding[ Breast cyst[ Circumscribed[ Lobulated[ Spiculated[Whorled([Delta brush pattern on EEG#[Tibiotalar synostosis[Vertebra plana[Intoeing*[Palpable thrill on extremity[ Out-toeing[Ankle dislocationE[7Anti-neuronal intermediate filament antibody positivity.[ Anti-DREBRIN antibody positivity=[/Anti-lipoprotein lipase autoantibody positivity=[/Anti-apolipoprotein CII autoantibody positivity4[&Eosinophilic neuronal inclusion bodies#[Sweaty foot-like odor=[/Anti-acetylcholine receptor antibody positivity[Hair shaft lesion7[)Prolonged use of tightly fitting footwear.[ Triggered by high protein intake,[Thickened tricuspid valve cusp+[Displaced anterior fontanelle[Subdural hygroma[Incus ankylosis([Excessive diet restriction0["Left ventricular apical dyskinesis([Longitudinal erythronychia1[#Exacerbated by exposure to sunlight![Exacerbated by heat/[!Exacerbated by excessive sweating([Malignant pleural effusionF[8Inappropriately low urine osmolality following challenge\[NReduced urine retrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio;[-Elevated urinary 2,4-dihydroxyglutarate level*[Abnormal urine D-xylose test-[Cerebral hemisphere mass lesion+[T2-hyperintense putaminal rim)[Posterior fossa mass lesion#[Irregular RR interval$[Irregular P-P interval#[Fungal hair infection[Long hairstyle1[#Conjunctival subepithelial fibrosis0["Conjunctival fornix foreshortening/[!Strong ultraviolet light exposure*[Exposure to vaginal douching0["Exposure to oily lotions or creamsm[_Elevated circulating pristanic acid concentration following branched-chain fatty acid ingestionP[BDecreased T-cell ZAP-70 protein expression in CD4-positive T cells5['Dorsal flexion contracture of the ankle([Metaphyseal undermodelling$[Iliac vein compression3[%Positive serum amyloid P scintigraphy$[crossed brainstem sign&[Inability to puff cheeks![Entoptic phenomenon.[ Abnormal vestibulo-spinal reflex)[Positive probe-to-bone test.[ Exposure to repetive hand impact%[Fractured scaphoid bone.[ Local anesthetic ineffectiveness#[Palmoplantar location [Oral mucosa plaque6[(Positive saliva rabies nucleic acid test6[(Elevated tissue arylsulfatase A activity<[.Elevated circulating methysterol concentration*[Elevated urinary adipic acidk)),(  ,    !*c    yX*,("G1i2J!##*$%1i +(! >"## $ % '($)$*+,- .-2/0-1-2 3/4D56" 7+(879:7;B2Q<2?=7>>+?2P@B2PA:B:2C7DDE*Fd!GpHd!Id!JGKa/L d"M*NwOwPNQS/UVY!Z][1\W]N_1z`_a`bc_{d/g1.h!i/k/lk+]n/o_p/qkr|u17vwvy/zh{/1i|/}V~*1/16* d,yZP yyYyu<P#,x!v,IzxY,IxY|H.6)v(7AO\x0xYxZM,J(.xY|HO\wA,JxY,J,K0,KxY1^xZdxY.60,@F i,@  {'.-1i { {l {  { { +,A)yxG.y# ! 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A7PHACE associationI8aS)]k 9N >2Bf /.Fibrosis of extraocular muscles, congenital, 2 A cc^&Hypokalemic periodic paralysis, type 1 , T ~ l c$Osteosclerotic metaphyseal dysplasia S *;_ m~:Intellectual developmental disorder, autosomal dominant 56*RWF48@ X  G Q  l,j.01|cfQ!Scleroderma, familial progressive .>L@kCerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndromeO}%  r>Neurodevelopmental disorder with or without autism or seizures_j  &1*c*p.0b| nUNeurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizuresZ,  -I H w ,yS Sea-Blue histiocyte disease rQ C||kType I hyperlipoproteinemia   4@,/y4I Fg syndrome 4 <' Z"+ ^Stickler syndrome, type IV!fK Z ` ) 2 *'A*/0P0S < o#Hypotrichosis 14 * M]!Ventricular tachycardia, familialfm -JZ.Polyposis, intestinal, with multiple exostoses  H g#Leukodystrophy, hypomyelinating, 10'?EUWmqAF@C H = o | e \l"& + r74Mitochondrial complex IV deficiency, nuclear type 19gj G H %@ ,N gRuijs-Aalfs syndromeE[z k#u U 0(Rhyns syndromeSZA8> \ |  51ND oeSpermatogenic failure 35 ,./0\ v$Cataract 50 with or without glaucoma   %&,, Xz,Chromosome 1q21.1 deletion syndrome, 1.35-mbb /37<?EW[q8FY9f_ko{|5[I Zqjo"&%&&&'G'))+,(-g-0a1NMNbcul uNYNeurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities@7I P |*4./bJb|*Toe, rotated fifth=_ e3Nemaline myopathy 9[,W]- Z  s)Immunodeficiency 14B, autosomal recessivef  " %*+d,.y/0G mHHypotonia, ataxia, developmental delay, and tooth enamel defect syndrome  .bB rOocyte maturation defect 9 ,{8 l:Intellectual developmental disorder, autosomal dominant 46@ P ,00b N G*Spastic paraplegia 25, autosomal recessive ZxqW \Glycogen storage disease XV ,k*x-/dlzWb;von Willebrand disease, type 3 Qd 5  Vc&Diabetes mellitus, insulin-dependent-1g3  Al qV0Combined oxidative phosphorylation deficiency 41 mVho 8 Singleton-Merten syndrome 15?GQ! ,chr Z q | ) n %X&+&,,u[}C lD#Pituitary adenoma 5, multiple types M A n!Deafness, autosomal recessive 111%,HZCystinosis, nephropathicHS]gDej37@  d ( ) T V [ ] e  % 6 ~   /00xu|[[[{ FNAlzheimer disease 348H 2 [ ^)|| a.Spinocerebellar ataxia, autosomal recessive 13 5;9@C  ]'X+",P0ZSPapilloma of choroid plexus = mdm VV >7&Seizures, benign familial infantile, 2 E P 1F8Bowen-Conradi syndrome[W.q hRoifman syndrome(W,} V]'X _ q"'A+.2SNephrotic syndrome, type 20 ]a  %,1,j /Nephronophthisis 2Zi6)-i > o~X( WD,Epileptic encephalopathy, early infantile, 49@ KU H  '*B*c*p+Y,P z R"Ceroid lipofuscinosis, neuronal, 7<Dj K 1 8%^MCohen syndrome=)BG[!>D78o')fAbSZ ) z  '9""'A)+,0| by*Spastic paraplegia 54, autosomal recessiveRaC / D \J"#],x Axenfeld-Rieger syndrome, type 1/BGP.s8&,> 4"Pseudouridinuria and mental defect Gc(Muscular dystrophy, limb-girdle, type 2D[cfl Z ? %\kuB# s/,Hiatt-Neu-Cooper neurodevelopmental syndrome3Bfq@ S++u|Y f-Microcephaly 12, primary, autosomal recessiveT &,C Optic atrophy 2 9 n  p-Epileptic encephalopathy, early infantile, 81 ^  &f*c+p0h s Parkinsonism with polyneuropathy  g gSOv#Complement component c1r deficiency{Y  OCat eye syndrome(LUh~<[mq78d]_djk   s(-aW8 Lymphedema-Distichiasis syndrome[8e]dk ; &(F,g-22; Chromosome 18p deletion syndrome"67<R[f4 qe"$Gerstmann-Straussler disease89C  2 ^\v9Genitourinary tract anomaliesw} q6QT-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant*  {9 f[Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delayy 6f  8  '"*,~CP Wi Atrial fibrillation, familial, 6 ,1xz?D _j Narcolepsy 7  6Z,bubY9)Brachydactyly, type A2, with microcephaly3^$%h2 dFactor VIII deficiencyd 5r ,"Dental anomalies and short stature/Gb Z  ! 2Vitamin D hydroxylation-deficient rickets, type 1A7ucv} ,d ] g U ] g " 7 S ] r]"#?),,//5 -Cataract, age-related nuclear+ hImmunodeficiency 45Nx 8IBlepharophimosis with facial and genital anomalies and mental retardation0/1; &7?WfqE' Ar qe/"%. \ 8Autoimmune disease, multisystem, with facial dysmorphism4  <BKfq5h aT z "&%,./S0au~V+o#Osteopetrosis, autosomal dominant 2< T L%)")*{ n/Hennekam lymphangiectasia-lymphedema syndrome 3"<F< .0P5 ^2Parasomnia, Sleepwalking typex-7 tnImmunodeficiency 88X3 Nw(L'Spondylocarpotarsal synostosis syndrome-k<a+ T Z ` u | ^ kq !%'At7 0Microcephalic primordial dwarfism, Montreal type B D \$Esophagitis, eosinophilic, 2XA ]aInfections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations] G-24|& /$Paget disease of bone 2, early-onset Q w ] c   S\ PW!A0Pseudoatrophoderma colliJvan Buchem disease m SU*[mj fV6Neutropenia, severe congenital, 6, autosomal recessive S  F `/Combined oxidative phosphorylation deficiency 9ugw.g  '.x||| v#Leukodystrophy, hypomyelinating, 25P14 '*p,N||I2!Hypercholesterolemia, familial, 2<Z 4 E{u/Epidermolysis bullosa, junctional, Herlitz type 3t  X9Urocanase deficiency X & ),/02Hyperhidrosis, gustatoryi \|)Agammaglobulinemia 2, autosomal recessive   " Pv,_ p7Immunodeficiency 65, susceptibility to viral infections>M((y><Brachydactyly, type A3q|$)S`$Hyperparathyroidism, neonatal severeg o.df % ]  "y%Autism, susceptibility to, X-linked 2M  1 H,P d $Aortic aneurysm, familial thoracic 8 E.0x.Earring holes, naturalm K Czech dysplasia, Metatarsal type[`' Z 4 ~ *"s'A)vp EExostoses, multiple, type II  ) ! N %m'A,O vFRetinitis pigmentosa 95 m 9,dnw DaThiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2))  4V ) 7 C H Q \ %X"),,/u: GYEndometrial carcinoma, somatic/R J'7Muscular dystrophy, limb-girdle, autosomal recessive 10f \u,1dl t#Heterotaxy, visceral, 12, autosomal]_jksw G*--!-$---F-x-.0zt{M|nz2Charcot-Marie-Tooth disease, X-linked recessive, 2 x 0 g  m#C&f n'Hyperparathyroidism, transient neonatal,iz\qKs6@k2G  S z )))A.vz b'Mitochondrial DNA depletion syndrome 11!N/KRl-. < %\it ),-.9Pseudo-Von willebrand disease f a_.Neuronopathy, distal hereditary motor, type VB  A g n%#Y-. dlI_Melanoma, cutaneous malignant&2$/ d1-Developmental and epileptic encephalopathy 174@    '*B*c+ BYOptic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy(@Z[ ~ \.&f,7Hypogonadotropic hypogonadism 1 with or without anosmia,.6zD7= q \  9"vvy `|Fibrochondrogenesis 2[w7 e g | .p rHermansky-Pudlak syndrome 11eSF 2{+Ectodermal dysplasia and immunodeficiency 1 +9/{}jBz S*Spastic paraplegia 32, autosomal recessiveC   ],, WGlut1 deficiency syndrome 249V  1  %.N4vMental retardation, X-linked 1  H  l";*CM)Total anomalous pulmonary venous return 1s,(9) Tatsumi factor deficiencyd s12Immunodeficiency 80 with or without cardiomyopathy k ~*,.|wz{BAuralcephalosyndactylymSTwK dq'Reticulate acropigmentation of Kitamura%,1 t3Charcot-Marie-Tooth disease, demyelinating, type 1IC 7  ,yR|| ;TAlzheimer disease, familial early-onset, with coexisting amyloid and prion pathology  u7Spinal muscular atrophy, distal, autosomal recessive, 62 7 H n 4#C#&f./uyc liCiliary dyskinesia, primary, 37 m5Us> ,.xlzF ,8Brugada syndrome 1 m--z [FHydrops fetalis, nonimmune, with gracile bones and dysmorphic features C)&`NRadioulnar synostosis, unilateral, with developmental retardationand hypotonia   R a2Amelogenesis imperfecta, hypomaturation type, iia4-Car factor deficiencydv=2Palmoplantar keratoderma and congenital alopecia 2 t &/.>}{ cdCCerebellar ataxia, mental retardation, and dysequilibrium syndrome4 H &B N syndrome /mu h .Aspartylglucosaminuria05%/ fIuS  H Z | ,/$}[ ,KKDiaphragmatic defects, limb deficiencies, and ossification defects of skull<q) q&c W"Leukodystrophy, hypomyelinating, 4C[8g o u ' 'l") ^Sick sinus syndrome 3- s!KINSSHIP syndrome?UY/<?B[q}{8GI Z q 7&%(8(,001` 87Spinal muscular atrophy, distal, autosomal recessive, 1 'LV ^ > u jm:e### qDIntellectual developmental disorder with seizures and language delay%A> X]*`+{/XArthrogryposis, distal, type 1A!q ^.58 Z p %&)=0avJTBlue cone monochromacy !eB/ W k+Thrombocytopenia, anemia, and myelofibrosisQo,.G q#Deafness, autosomal dominant 76 c wFBMitochondrial complex V (ATP synthase) deficiency, nuclear type 4A4@ogj Q 8   'I . rt-Developmental and epileptic encephalopathy 890;@4<?WqF4C[  Z '!"&b)*c+Y0Pbfx Methylmalonic aciduria, mut type#,fQSZ2j ` '/[,-./X mF:Intellectual developmental disorder, autosomal dominant 53-6~Y@f ]I 1 E   )  C!g#f,?x| T GAPO syndrome;<PQW[35JRepMf.7<Gt 1 Z s | )+p0x h37Alpha-Thalassemia/mental retardation syndrome, X-linked;/16h~/<fqL]  Z q y |!g""$*6*8,-...0uvQImmunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessiveQXo*>   .y/j0NvBk cF'Lipodystrophy, familial partial, type 5 6Zuk %#wxL jQGrowth retardation, impaired intellectual development, hypotonia, and hepatopathy%Q~%7@fsu~ \  Sl",,wx|W||(Acromial dimples} n-Developmental and epileptic encephalopathy 65 @CM G *4*c ]g9Brain malformations with or without urinary tract defects!LY~KQqFG | D *n,BSystemic lupus erythematosus 17<uQZ` %-0bdlx>- t0Combined oxidative phosphorylation deficiency 556rANPY%,@QoGdg e ~   u0)j,N,P,,0x1Q1 d_Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformityCor   lX,E+Testicular tumor, somatic Rn&@R -:Deafness, autosomal dominant nonsyndromic sensorineural 12 `Joubert syndrome 14,k<B\fq8M6 (]$z  = s *4*pc` S!TLeukoencephalopathy with brainstem and spinal cord involvement and lactate elevation,9C[ 0 ]>pEnchondromatosis, multipleEm,2 aHypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes6<W]y>F&=&K*5u w[ FX7Focal segmental glomerulosclerosis 3, susceptibility toS]a6 Q[.Xeroderma pigmentosum, complementation group B8DCGW h o S,/ s$Immunodeficiency 85 and autoimmunity` " %g,Nhvyr6*Histidinuria due to A renal tubular defect?WK o!\s@Adrenocortical unresponsiveness to acth with postreceptor defect RRJIntellectual developmental disorder, X-linked syndromic, Claes-Jensen type>6)/?G[^!>F9C[ : [ lm""&*p,DqEpilepsy, benign neonatal, 2'8 p_ Short sleep, familial natural, 2' `)=Hypertrophic osteoarthropathy, primary, autosomal recessive 2 %0 %X,vjxwO qrTremor, hereditary essential, 6~ * o 0u8Ocular motor apraxiaZ1Z r@Ichthyosis, follicular, with atrichia and photophobia syndrome 2 eI d vnz;&s BAlzheimer disease 4 8 2  C.1vx@yR7 oiRetinitis pigmentosa 85\,Schimke X-linked mental retardation syndromem lo ^Hermansky-Pudlak syndrome 35d %60o?Achondroplasia, so-called, and severe combined immunodeficiency `NPR2Membranoproliferative glomerulonephritis, X-linked#x'LAniridia, partial, with unilateral renal agenesis and psychomotorretardationz?J2Branchial cleft anomaliesbranchial cysts, includedR`*Chronic recurrent multifocal osteomyelitis ] )Coffin-Lowry syndromeA/<Pm>'uG Z q | 4 | !&&'A(E* +RpBjornstad syndrome <  ,_džSimosa craniofacial syndromeQWflqyE;K u)0Pz rAMED syndrome, digenic  CQZo /j*  m4WCombined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemiamT`afp   N*c>c[cW H/Prolonged electroretinal response suppression 1e,w/w0^ lc.Ichthyosis, congenital, autosomal recessive 14 7*a x/Congenital disorder of glycosylation, type IIbb!<Wq@ 1 X  ",0eX ?v Amyotrophic lateral sclerosis 21CIO >  x  g"4#],v i^Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility toZ3 i / 0{_P/Erythrokeratodermia variabilis et progressiva 1 bbo IIchthyosis prematurity syndromeV3 yNO.1bd|}; NPeeling skin syndrome 2=*I)Split-Hand and split-foot with hypodontia/ h7Epilepsy, hearing loss, and mental retardation syndrome@Q 1 Z e  "*p.0`jȆNCeliac artery stenosis from compression by median arcuate ligamentof diaphragm0'g G'Immunodeficiency with hyper-IgM, type 4 b> ! / X M$Thyroid hormone metabolism, abnormal 5 m'{}5VMGrowth hormone insensitivity with immune dysregulation 1, autosomal recessive 8T2 +p+Qd1Microcornea, glaucoma, and absent frontal sinuses ; BUsher syndrome, type IG&L H$Corneal dystrophy, lattice type IIIA} T KHyperthyroidism, nonautoimmuneDUVq' 9. c#cyz{}E \ qFGMyopathy, congenital, with respiratory insufficiency and bone fractures ' 6 2Paramolar tubercle of bolk_Cone-rod dystrophy, X-linked, 1 !'e*,wi!Glutathione synthetase deficiencyDASV B rCardioacrofacial dysplasia 2/<BQ&t ) q'&b*4---H*O!!""$$&1&e&ux n;Ophthalmoplegia, external, with rib and vertebral anomalies A Z 0Nc ZY)Parkinson disease 14, autosomal recessive(R49CDa|   J %^,,,b c+|Y4zlChondrodysplasia punctata, autosomal dominantchondrodysplasia punctata due to vitamin K deficiency, included Z &").t t(Congenital disorder of deglycosylation 2#<D[\m(:<GN !g%,,(.1~G e*,Bosch-Boonstra-Schaaf optic atrophy syndrome3Fc&+.` `KMicrocephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome!QW' )4@C~  q#&NbJLPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy$8 OWw{ $ 0 1 2 w ,)+X,/|dH<,Rhizomelic chondrodysplasia punctata, type 1[F[<-H Y ")K)0P4 pSitosterolemia 2 4=*z=]%Autism, susceptibility to, X-linked 4   jfW ]/Night blindness, congenital stationary, type 1DD,[Mental retardation, X-linked 72   tFNeurodevelopmental disorder with hyperkinetic movements and dyskinesia1489f & = u "*pb|"5JAutoinflammatory disease, multisystem, with immune dysregulation, X-linked2d bp+  " k  %", ,0Nvc#yz}E}4= = p.Chondrodysplasia punctata 2, X-linked dominant0~my8G & T Z  y 7 "")+p0Pa L!Filaminopathy, autosomal dominant - ]uc?Aortic arch anomaly with peculiar facies and mental retardation C,3Tibial hemimelia%T9v!Nasal groove, familial transverseO tJ+Epidermolysis bullosa simplex 2C, localized bc B{'Immunodeficiency with hyper-igm, type 3 S  ! g/'Anonychia congenitaljDPeripheral neuropathy, ataxia, focal necrotizing encephalopathy, and@cH npPremature ovarian failure 15Zel% (yZ cImmunodeficiency 8`  j#BB= Velocardiofacial syndrome'EVs=0K]d[ C UG;-F-[.2)7 /Polydactyly, postaxial, type A2Q `_!Pseudohypoaldosteronism, type IID6i6 2,,= Vq%Macular degeneration, age-related, 11`*w NImmunodeficiency 54N- >M",N,-LGMental retardation, X-linked 145 & b#2Spinocerebellar degeneration and corneal dystrophyku O/ _W-Microcephaly, epilepsy, and diabetes syndrome*.%U3')DK ^ "&*4*c,.12,!46,xx sex reversal 3/Mf%Tremor, nystagmus, and duodenal ulcer%9 un)*Mental retardation, X-linked, syndromic 12 /A M "o rVissers-Bodmer syndromeb PV 8L xPremature ovarian failure 22e   (,dlyn x2Macular dystrophy with or without cone dysfunction [ %*J,0bG mf-Developmental and epileptic encephalopathy 58 @CU l*p.0 *Myopathy, distal, 7, adult-onset, X-linkedmf  gk"#"#%#],1zV>Meleda disease o ]L'Neuropathy, hereditary sensory, type IDC x I Q \$ "&f,a Z=Neurodegeneration due to cerebral folate transport deficiency H r[Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies)/3EK\nfk_w Z u"+6,6-0w p;Spinal muscular atrophy with progressive myoclonic epilepsy89K 7 ^ Z ?%\ue"),I x!Deafness, autosomal recessive 121! ,a m-Microcephaly 21, primary, autosomal recessive T@ & , [**Spastic paraplegia 45, autosomal recessive!C[    %M",,,ucFriedreich ataxia 13cZcg Z + x %*O t|)Immunodeficiency 91 and hyperinflammation-SdQ P ^  %+,.y/|0Nwc[{~w^ (o0Neuronopathy, distal hereditary motor, type VIII Z `me""##]":Desbuquois dysplasia 1?47?W!? ]f< S Z q l | c'"$%&.'2'T'q)+p.N[t 1r Axenfeld-Rieger syndrome, type 3<s(_k&+p,.@ r^Spermatogenic failure 47 /./ v;Intellectual developmental disorder, autosomal recessive 784Ar3 E q*pi gZ)Spastic paraplegia 73, autosomal dominant C ]u]_3 bPerrault syndrome 2( pT-Epileptic encephalopathy, early infantile, 80/%3<?UW[fmqyF GN S &&*4*8.0rc<W ]>Cardiomyopathy, dilated, 1U cl --1zdnL rPremature ovarian failure 17   (,.y|yv"Oculopharyngeal muscular dystrophy*K \ju) baSchuurs-Hoeijmakers syndrome*&<?q! )@kow) U  +Z.ȸ%Leukocyte adhesion deficiency, type I" 'h,K+.{~~ j d"Myopathy with extrapyramidal signs6<049f]Uqy   7 ^ j < ? B uy##V*4*1jv x#Megalencephaly-polydactyly syndrome(~<AWfq>K]2G  | "#++2 ~qAicardi-Goutieres syndrome 115i'4@fQ W 0 u I ^*=""%%%* N g.Fibrosis of extraocular muscles, congenital, 5 & ]JNoonan syndrome 7/ 2<Uq f_gjr Z /"&+,/0xy+g[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 10N/eFg  J  >  \hij )dnM OCone-Rod dystrophy 10 `e9:&C6Thyroid cancer, nonmedullary, 2 OKr2Nephrogenic syndrome of inappropriate antidiuresis  V V  E/E1=| tSGalloway-Mowat syndrome 9a<UqYGH l, X6Neutropenia, severe congenital, 4, autosomal recessive5 ~m jkuQSZ`o,- ; ~'&=*,(/e00u~T b(Lethal congenital contracture syndrome 4[- 4E f)Psoriasis 15, pustular, susceptibility to  S:Intellectual developmental disorder, autosomal recessive 541<?BKm>EY@CX & r  T"",c[M YhLeber congenital amaurosis 13,9, r?#Leukodystrophy, hypomyelinating, 204D H Z ,.011uz aDiamond-Blackfan anemia 11zqoS $&1*./k,-Ascites, chylous/@.Xeroderma pigmentosum, complementation group Fm9[ Z o ,  %*,0z7{% b} I)Cardiomyopathy, familial hypertrophic, 10gm.  *x-{ l VNeurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesT@CMHy Z \1X? wE Diarrhea 13 u ^ 'X_Retinitis pigmentosa 10m 9k,,{y r:Intellectual developmental disorder, autosomal dominant 64(3<?BK[qzF)MGqoj+.0~I eCone-Rod dystrophy 19 $ *,,wx|o OAlagille syndrome 2SY]k3EQs6t_dj 3 uiv ]w"Heterotaxy, visceral, 4, autosomal]s G('(---.ztc 88Congenital cataracts, facial dysmorphism, and neuropathy",/  g    "")|+X͸$Charcot-Marie-Tooth disease, type 1B x 0 4 6 7 g y%]jm#C&f+X/*@'Cerebral creatine deficiency syndrome 11b/QA'4fy X # j!""+Z.01a[V:Van bogaert-hozay syndrome [y!;&+ _KAdams-Oliver syndrome 2'&<[q8!)< N ',",P o3Mitochondrial complex I deficiency, nuclear type 198@g-G  Z 8 'l..0` m0Combined oxidative phosphorylation deficiency 36qFg   /(NQ||F w?Encephalopathy, acute, infection-induced, susceptibility to, 12- 6  %q,.Nbd~0Arthrogryposis, congenital, lower limb, X-linked  `Bt x,Thrombocytopenia 12 with or without myopathyQ 6,.e= /Cryptotia, familiald+@ ;[$Hypobetalipoproteinemia, familial, 2 /yX \w$Immunodeficiency, common variable, 5   *,.?}+Anosmia, congenitalM:-Vas deferens, congenital bilateral aplasia of 2I l6Vertebral, cardiac, renal, and limb defects syndrome 1LYxA_r[` >(=(A2m dr%Chromosome 22q13 duplication syndromeFU jf hI:Intellectual developmental disorder, autosomal dominant 395' I 1 P  . j+,2 |1 if Wilms tumor 6 k %,4Carcinoid tumors, intestinalC@ lySpermatogenic failure 20 ,./0O AZEpisodic ataxia, type 3 h,S  kM5Tendons, extensor, of fingers, anomalous insertion ofJ _2Colorectal cancer, hereditary nonpolyposis, type 7< vONeurodevelopmental disorder with poor growth, large ears, and dysmorphic facies[737  ,(.0u ' OMPHALOCELE 5:Spondyloepimetaphyseal dysplasia with joint laxity, type 2) ^f Z [ )  *6! "3"s&l(=)V)Y.00 0  t%Craniotubular dysplasia, Ikegawa type) <Wmur] | %+,.vp`BY g')Myopathy, vacuolar, with CASQ1 aggregates, < Bu| 33Mitochondrial DNA depletion syndrome 1 (MNGIE type)2NU  0   x 8 %\him%+&f0uz}2[D wSpermatogenic failure 85 ,/2E0V&Isotretinoin embryopathy-like syndrome[!g&m JD=Carnitine palmitoyltransferase II deficiency, lethal neonatalHISinq~T\fq'{hl-8GN S > ^  o= e {"#b)+,-,-.||}BxCraniometaphyseal dysplasia=/<QfhmqAcd T u | S  %7UoJ #})+,z,.0Rc=z[e 8 Salla diseaseA   |B [Brugada syndrome 7 /dn{P#Glycogen storage disease, type IXa1ek ^ 4 8 %,0Z[=$Glaucoma 1, open angle, P /L14ʦSpinal arachnoiditis 7 KSenior-Loken syndrome 5Z62Tooth malformationT+Klippel-Feil syndrome 1, autosomal dominantMzDm7r Z d{vuw g)Mental retardation, autosomal dominant 35)<U! @^G Zd0Zy|~;Hypomagnesemia 5, renal, with or without ocular involvement y!\f e % ,1@1N1]E)Vertebral hypoplasia with lumbar kyphosis !QZf!Cystinosis, adult nonnephropathice %,"Osteoporosis-pseudoglioma syndrome#8jAf] P Z c  ]e.Cornelia de Lange syndrome 2'&?U[>gG "%u weThoracoabdominal syndrome/hk)  u rB@Cleft palate, proliferative retinopathy, and developmental delayB[m! (:G U")'.w| `Pseudoxanthoma elasticum=`6NbcAO,0bc)49Usher syndrome, type IIA!O c=Cortical dysplasia, complex, with other brain malformations 3; |~D6Gastrocutaneous syndrome<!.b ,.Ichthyosis, congenital, autosomal recessive 4A  7q \})Agammaglobulinemia 3, autosomal recessiveS   'Pv,B&Achoo syndromebS wDCiliary dyskinesia, primary, 50  u+e///0 mQNeurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities&Yy~[6@^ u ` T U V  ,P.0 tTeebi hypertelorism syndrome 2/<m>| | qj./ x;Intellectual developmental disorder, autosomal recessive 82q( 8  j q5.Triokinase and FMN cyclase deficiency syndrome8)ulX  8|!Myopathy, centronuclear, X-linked$ \ '[V G S ^ #),,,xx_ ZEGlycogen storage disease XI Sg a B %P ),Glaucoma-Related pigment dispersion syndrome!,/LW8Linear skin defects with multiple congenital anomalies 2<KW\f!8!_d<, | 0 e$CHyperphosphatasia with impaired intellectual development syndrome 4<F@ S | ,&*4†Ruvalcaba syndrome,7a Z &K'A) wOmodysplasia 2%/6<B<W[f4 Z q'2*4.u@i .Anterior segment dysgenesis 3.s(  %6&,c I~'Asperger syndrome, susceptibility to, 1 %' TORTICOLLISD P"Leukodystrophy, hypomyelinating, 5%C o Z 7 e g r*X"1u| ]&QMental retardation with language impairment and with or without autistic features%<%   | j"+Z+,"|l \2Cardiomyopathy, dilated, 1Sclmou,  %k<(L,-1xwza(YlCYSTATHIONINURIA Q> V#Brugada syndrome 3m//L;Campomelia, Cumming type qWA LImmunoglobulin A deficiency 2 1LEpidermolytic hyperkeratosis3b [*Chromosome 17q23.1-q23.2 deletion syndrome<fm5Mko, Z"))mV EPCharcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive[DI 2 4 7 g m> #"#%, vmBDevelopmental delay, language impairment, and ocular abnormalities~Aj` Z j#NNbI`fI x.Developmental and epileptic encephalopathy 115a 0 1 H M V.0PGallbladder, agenesis ofM G3Macular dystrophy, retinal, 2[*Jqwx r64Mitochondrial complex IV deficiency, nuclear type 18  ,g S  h /voO [7Fatty liver disease, nonalcoholic, susceptibility to, 1u?`Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaq8ns 2 |@"1` Uz4Migraine with or without aura, susceptibility to, 12e KIntellectual developmental disorder, X-linked, syndrome, snijders Blok type<m:GX Z ,4 k0Autoinflammation with arthritis and dyskeratosis*eIb  N+,.Sb}=&Y'1Intellectual developmental disorder, X-linked 110@ *p,L mo Amyotrophic lateral sclerosis 23 ^ Sclerosteosis 1*/<Pm5<nZu=m t T u).dmyI KFebrile seizures, familial, 5 E *B*C, n-Epileptic encephalopathy, early infantile, 64- &?W[>)4@GHU H  '* ,lm Vi)Spastic paraplegia 37, autosomal dominant   v [ ]J,<}&Cardiac valvular defect, developmentalH~]_bjuw G<"(-#-G-g-y&z?,. 8,Microcephaly 4, primary, autosomal recessive<T[>(7 &%,f v{Rabin-Pappas syndrome)/3<[Fau)  VrS&%./N1` k8Aortic aneurysm, familial thoracic 11, susceptibility to EN0P -B(Diabetes mellitus, transient neonatal, 1  ? c-Developmental and epileptic encephalopathy 16<48 U H \l.0N s:!Marbach-Rustad progeroid syndrome!?E[JW~, U e,(-.x|f4 jSpermatogenic failure 17 ,\ u ,Epidermolysis bullosa, junctional 3B, severe=  l-Developmental and epileptic encephalopathy 91%<B[@I U H  f*Y+Y+,.0` M Pt1Preauricular tag, isolated, autosomal dominant, 1 | N8Brachydactyly, coloboma, and anterior segment dysgenesis m8MduU!Methionine malabsorption syndrome { ,d4 jSedoheptulokinase deficiencybENMental retardation, X-linked 25Ab TNoonan syndrome 5' /<qA_gj +-0} rEDeafness, congenital, and adult-onset progressive leukoencephalopathym4g ( o X,1 t.7Muscular dystrophy, limb-girdle, autosomal recessive 27 f Z  %\"#"#%#],,vo~U5 Hooft disease?Aniridia and absent patellab Mv5Short stature and facioauriculothoracic malformationsqz{] !gu ^ M %]m)2,u7g8 uSpermatogenic failure 68 ,/r \rAlpha-1-Antitrypsin deficiencyrz.9> ^un1dluxl}*6Teebi-Shaltout syndrome,GU~&<?Uq8]r.0 !%(3+0axOT tOvarian dysgenesis 9  7 %   (".y YImmunodeficiency 9 ` " ~ ? u((+cNvR r6Blistering, acantholytic, of oral and laryngeal mucosaz GAchalasia-Microcephaly syndrome5 v,Bent bone dysplasia syndrome 2!16os_ 2 Y bh%'20 YCone-Rod dystrophy 9$ tBPulmonary fibrosis and/or bone marrow failure, telomere-related, 6T`+ /  % z{9H0Arteriovenous malformation of the brain, somatic hs j.3Autoimmune disease, multisystem, infantile-onset, 2 ]d   01#z"{4S|FCorpus callosum, agenesis of, with facial anomalies and Robin sequence,/%<[yE ) @fk2 S |e"-%1uwHReticular dysgenesia  Z` ;< t~Spermatogenic failure 60 ,.y>N ^"Leukotriene C4 synthase deficiencyv wi;Intellectual developmental disorder, autosomal recessive 79?l] X  q'}*p._f7Emery-Dreifuss muscular dystrophy 2, autosomal dominantlm ; ]jkm"#C#Y#]----1xdlza[ [ICiliary dyskinesia, primary, 13 > +d////q s1Cholestasis, progressive familial intrahepatic, 6 }~ \ ^ S .px qbNeurodevelopmental disorder and structural brain anomalies with or without seizures and spasticityaW ,q"+,01c<7 t7WDevelopmental delay with or without intellectual impairment or behavioral abnormalities4<BE\qnf] o i,j!3,./0bIcl qkcNeurodevelopmental disorder with or without autistic features and/or structural brain abnormalities H &.LZimmermann-Laband syndrome 16( %&/BQW\fmq!>fkA 8 Z &*p0 ) *Orofacial cleft 3 n3Mitochondrial complex I deficiency, nuclear type 16N 4 $ & Z 8#.. _q&Chromosome 20q11-q12 deletion syndrome<B\m"*p.0aSQ -Spinal dysplasia, Anhalt type   !!!x w8Autoinflammation with pulmonary and cutaneous vasculitis o+ >'s ]!*Spastic paraplegia 5A, autosomal recessive %C v~ f Z #  %\J*#,,xQ -D9Deafness, autosomal dominant nonsyndromic sensorineural 7B uMyopia 28, autosomal recessive*,P vGSpermatogenic failure 77  (,uv3ɈStargardt disease 1`c,S m7Polycystic liver disease 3 with or without kidney cystsk rRitscher-Schinzel syndrome 3<[78( P '"'2'y)+,Pb~J x"Maple syrup urine disease, type II',8 e0Pachyonychia congenita 4 /[:Edinburgh malformation syndrome  *6,G b#0Combined oxidative phosphorylation deficiency 15$69]g  ( -7X .x- w v-Microcephaly 30, primary, autosomal recessive}GH q&*,b<v$Panencephalitis, subacute sclerosing Os&@OAnemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism [A%Platelet prostacyclin receptor defectA F)Bile acid synthesis defect, congenital, 1rw~ F \ ^ J '. [m!Albinism, oculocutaneous, type II!A{FG _Deafness, autosomal dominant 64h%\,] =-Charcot-Marie-Tooth disease, axonal, type 2B2 x g m K.Charcot-marie-tooth disease, axonal, type 2A2Am9C[ Z x 0 2 4 7 8 g x ]jm#C0 r ENDOVE syndrome, limb-brain type ~ f = $+1bxz} x-Lipodystrophy, congenital generalized, type 5JWuk ^   3Z#,wwv <"Heterotaxy, visceral, 2, autosomals  # '--OcG k'Sudden cardiac failure, alcohol-induced%W /Fourth cranial nerve palsy, familial congenitalc,c<c `R9Congenital cataracts, hearing loss, and neurodegenerationm@ e \*U,P.1G+Mental retardation, X-linked, syndromic, 35C/ /4?Wm ')9AV]_ 7 E Z _ q?M!""$%D)}*+,. 0x|c P/Tumoral calcinosis, normophosphatemic, familial   c|I QD7Hypogonadotropic hypogonadism 4 with or without anosmia,6379 "~ p&Intellectual developmental disorder 59)UW\q!}   I*p0P `6Cutaneous telangiectasia and cancer syndrome, familial<   +9,g,//b'(7Emphysema, congenital lobar2 gCHOPS syndrome,LU7<Wm>A]kw  | )'*. \C]Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language$<BKQqF1@G | qS,*p.b| u\2Cholestasis, progressive familial intrahepatic, 10 \  4  ,./x||7 iDeafness, autosomal dominant 68fMelnick-Needles syndrome/G~<P[r~aIb, q ) F&+&',G VY-Camptodactyly syndrome, Guadalajara, type III6<y %(0P0a^0Neurodegeneration with brain iron accumulation 549@  ,0,1|1 =Neurodevelopmental disorder with epilepsy and hemochromatosis//m8@CM[rw Q U~ H Z S |  t"00|`j ]JMycobacterial and viral infections, susceptibility to, autosomal recessiveM, 0B o|Myoclonus, familial, 24`|q f Hyperlipoproteinemia, type IDk  =*,/dlh >(Fanconi anemia, complementation group D1  G&2 W)Cardiomyopathy, familial hypertrophic, 11_cg.  %,---|71Intellectual developmental disorder, X-linked 112+/>LUVkz!%f[o & 8   Z  j)*.0*0Z09-Shprintzen-Goldberg craniosynostosis syndrome? <G[fqy!Js Sfb0 Z ) 6 N "#?%+0as _7Emery-Dreifuss muscular dystrophy 7, autosomal dominant ~ ]uf wBCongenital smooth muscle hamartoma with or without hemihypertrophy )F o-Charcot-Marie-Tooth disease, axonal, type 2EEu ^ t %\m>#CO *Craniosynostosis, Adelaide typeS''O UErythrocytosis, familial, 4 klm A,v(lp Tarsal-Carpal coalition syndromel  $$%'2up Osteogenesis imperfecta, type IX#EP U Z  ]bW" `74Charcot-Marie-Tooth disease, dominant intermediate E]a x 0 7 w%\"#C&f,!I m)Spinocerebellar ataxia 45 ])1 JMyopia 6*b [|2Colorectal cancer, hereditary nonpolyposis, type 8  k</RdnH8 Schwartz-jampel syndrome, type 1F%*<[q!E,^TU Z q z i Y  IWc<"%)4+p,0P< EParkinson disease 11|  q ^!Epiphyseal dysplasia, multiple, 6 ^ % *% )V)YuYxw IR-Lipodystrophy, congenital generalized, type 1(Ab/E3Jdmruf)k   ^ '!#,b(^ N*Hyperinsulinemic hypoglycemia, familial, 5 9-}% [,,PY XDiamond-Blackfan anemia 5 /<q]Zh /eoe'Dystonia 4, torsion, autosomal dominantR %&,} k,XGlobal developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies+kn3?EUfqF8'k-G &%*c.1u`| o>;Intellectual developmental disorder, autosomal recessive 68G, :+|D *0Cone-Rod dystrophy 1m$V%, gGKNeurologic, endocrine, and pancreatic disease, multisystem, infantile-onset/1<A357su  &  \l"$$%.x|7 k_Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies2Wmqy} []_5G Z]*p,(.0 U[c+;Nephrogenic diabetes insipidus - intracranial calcification &Nb qP:Epilepsy, early-onset, with or without developmental delay"w e%Ataxia-telangiectasia-like disorder 2 e,  \yoX S8Polyhydramnios, megalencephaly, and symptomatic epilepsy y)<i @KfV_G .0S-Ichthyosis, congenital, autosomal recessive 2;<' 7$*bb j0Myasthenic syndrome, congenital, 20, presynapticU,R8 Z  u(C).|N ."Spondylospinal thoracic dysostosisG[) (BcT)Metaphyseal chondrodysplasia, Schmid type Z ) z + s@"&t&,XP,Coloboma of macula with type B brachydactylyhM%% UTemple-Baraitser syndrome <W_j7  I%%&&'G*p,(01 1 1 x r0Combined oxidative phosphorylation deficiency 49 %h z ..CѼ'Metaphyseal chondrodysplasia, Pena type aJoubert syndrome 18Ukf]%[  s W0a QNemaline myopathy 7',W 7 z ? ]gj(<)2,1Nvo|o{ l'Joint laxity, short stature, and myopiam7df */?k ch'Fanconi anemia, complementation group Q q  &1(L P4Pigmented nodular adrenocortical disease, primary, 276)+, h . %, bTyshchenko syndrome&KfqV]_j )'. 8fdMyoglobinuria, recurrent D qq 4RHuntington disease-like 1  W,t wImmunodeficiency 112 " M*,NvNwv/ d0Combined oxidative phosphorylation deficiency 189g 8 #V*n./XNEv)Transient erythroblastopenia of childhoodo E6Epilepsy, idiopathic generalized, susceptibility to, 98IS| E X%Xf)$*B*b+,dmdnY f%Cone-Rod dystrophy 20 $([m 9*,Ͷ1Thiamine-Responsive megaloblastic anemia syndrome"$<3I]_fQ %,,-m @ AAtrioventricular septal defect, partial, with heterotaxy syndromes C G-9 n#Leukodystrophy, hypomyelinating, 17/@C[  o  \&%.01 UB46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs/hq])?8*-/2=wAϽ,Spondylometaphyseal dysplasia, Algerian type! a  ) z q ""vTe S=Intellectual developmental disorder, autosomal recessive 9/26*p,tDeafness, X-linked 1^ tN"Rhizomelic dysplasia, Ain-Naz type `i  "b"p E,Charcot-Marie-Tooth disease, axonal, type 2H  x 0 4 n z%m#C K Myopia 10! [#Parkinsonism-Dystonia, infantile, 1R49 \  '\X")9./|4?#Paroxysmal nocturnal hemoglobinuria g 87Arrhythmogenic right ventricular dysplasia, familial, 6m %,,- t!x&f)10,1C cSymphalangism, proximal, 1Bq#%@(sLynch syndrome I 7 \Senior-Loken syndrome 7Z" b3Mitochondrial complex IV deficiency, nuclear type 6ufg { 8 '..a aLjIntrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies/6q8CSf ` |"+l 1kX " P <*n*0ev,vV  " *+d+e,.x?}} kBBC C )R ).Maturity-onset diabetes of the young, type III  (Z ]"Chromosome 13q14 deletion syndrome(6 Q[mq78Yd3P]w5 q"&N jx&Seizures, benign familial infantile, 5 P ,v Fanconi renotubular syndrome 1S|,d T  % 6 S @,7 FoHMuscular dystrophy, congenital, merosin deficient or partially deficientZ,[ "e4Pyruvate dehydrogenase e3-binding protein deficiency<'4: p p 8  bg0Cleidocranial dysplasia:<[mr{~2 S U Z c | 2 o D |z"T"%i'*+=.[[ 3CDAGS syndrome/~ XZ[.c? l_ uTumor predisposition syndrome 2  *  %k$,u{|q n5Pituitary hormone deficiency, combined or isolated, 7 8  ")1 1gWShort stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities [Yr S z / s"Q".NX0DEAFNESS, Y-LINKED 1hMYunis-Varon syndromen/6 <B[qzFr~()^V]dfw'O,[  { l U]be !g"Q$%@%]%h&1&2&k&s&))),-,P..0b1cVuu U8 tSpermatogenic failure 61 .y?x ^^ Osteogenesis imperfecta, type VImPf c S k X ft>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 , ]k#,u^~U ?h.Congenital disorder of glycosylation, type IIB  E    ")=*c12|[ a!Peroxisome biogenesis disorder 4BF<,N ' |RXAdrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency%/036>(Ni V "0{25v4yfyG͎Megaepiphyseal dwarfism !.;5Cone-Rod dystrophy, X-linked, 2$T~UBaller-Gerold syndromeVM<[fq!aS [N  Z 6 IXZ[Q+C"%%&1&]'@**+p+,6,M./w 2+Histiocytosis-lymphadenopathy plus syndrome26m/8<]_bhjk., " ; P#-0a1bu+Vw_ 1Branchiootic syndrome 1qzjs!g!j!&Cg N7Generalized epilepsy with febrile seizures plus, type 4I E %*B,b tDystonia 34, myoclonic48/ * 4 J%\&{m ]Z-Developmental and epileptic encephalopathy 12 C H  "+Y > .Pallister-Killian syndrome./;Bkn%<W[\fmq!Fun @[^ <AL]_gkr&')G` &  C | ql=o"""#}&K*4+,./B1` wT a,Microcephaly 8, primary, autosomal recessiveT *p,+Scapuloperoneal myopathy, X-linked dominant 0 ku#C#^,-Zuw-Focal facial dermal dysplasia 3, Setleis type&u!=&,H./ m"2Leukodystrophy, progressive, early childhood-onset ?Tq>4  H o \q"&f*p1X' KoAplastic anemia{A7Hypogonadotropic hypogonadism 2 with or without anosmia,6d779&Luw~7 \Odontoid hypoplasia !9WCurved nail of fourth toe &AT!Amelogenesis imperfecta, type III#f LAl-Gazali syndrome~[ &l.xm q-Epileptic encephalopathy, early infantile, 86  4@ et,P,=dDIAMINOPENTANURIA ; w!C1q deficiency 2Yo> k %+,bcZw) ]y F%Epilepsy, familial adult myoclonic, 2 .89<G `*dr*Pheochromocytoma-Islet cell tumor syndrome]kG>cq j  ; vzOocyte maturation defect 13 ,R [[2Amelogenesis imperfecta, hypomaturation type, iia3+M, aAlar cleft, isolated w} o%Fetal akinesia deformation sequence 2<[q[L-"*4 ]!Osteogenesis imperfecta, type XIIDP[mOP U Z  WX+.w3 Restrictive dermopathy 1;/I<[q1EmC~[V_k.) 1 bw&o,,01dpy% i; qProteinuria, chronic benignS]10< d$Multiple fibroadenomas of the breast){w ;SHypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy6 RAtrial septal defect 1 ]_or-.0Congenital myopathy 13*[qE,[ +G Z ? u../0011vow vO3Charcot-Marie-Tooth disease, demyelinating, type 1J  x A g &f,,0Alopecia, familial focalD Mast syndromeC    ]&f,1x] `dCone-Rod dystrophy 16$e9b;n eMyopathy, tubular aggregate, 2h, U %]uB#C,-Lipodystrophy, congenital generalized, type 2*Ab/EJdmruTg)k   ^ Z!#b( `#Coenzyme Q10 deficiency, primary, 5 4CL~ -g 8 'l.A7 +Usher syndrome, type IDmi `P)Hypertriglyceridemia, transient infantile suk ^ x b-Congenital disorder of glycosylation, type Iu[Y ) 2 G S Z ^ X | l.1B@ -* Deafness, autosomal recessive 12V-*Hirschsprung disease, susceptibility to, 1  #9:l VALINEMIA,  *@Joubert syndrome 10&q(@& s  "*p0bID 4Gracile syndrome 't  | =F&Alopecia-Mental retardation syndrome 1<*p o.Spinocerebellar ataxia, autosomal recessive 27CDH]{ 7 ]Cdn ]Meckel syndrome, type 8>iqQq8$% | o(ddM9Usher syndrome, type IIIA c ,#\Spinocerebellar degeneration with macular corneal dystrophy, congenitalcataracts, and myopia!k . ^Moyamoya disease 5j.: RBChoreoathetosis, hypothyroidism, and neonatal respiratory distress)8S 4]_+23AX 8 S m '  &E01b[c2xlxnx}X$Dermatopathia pigmentosa reticularis  1 htNoonan syndrome 10*<Uq]_bgjku Z =]&)*} o)Spastic paraplegia 80, autosomal dominant ]4  [ %J,g -Microphthalmia, syndromic 8/8E/1F*Wieacker-Wolff syndrome, female-restricted24W\fq @C[.G  Z C%)*6.0vo| I'Insulin-Like growth factor I deficiency[M q"v9 o!Deafness, autosomal recessive 114P n Deafness, autosomal recessive 57m ,B dMyopia 23, autosomal recessivex*fCraniosynostosis 1  Sr  FZ+,5xO{C Q'Retinitis pigmentosa 36&`9 ds3Ehlers-Danlos syndrome, musculocontractural type, 2#)<WP"3fbuw  | z.0a 8:;Encephalopathy, familial, with neuroserpin inclusion bodies8 { x[k k'FANCONI ANEMIA, COMPLEMENTATION GROUP U Vk &1'3.;1L; cDowling-Degos disease 2N%dFDeafness, X-linked 5hm!  x >]f,k v'Thyroid hormone metabolism, abnormal, 3 , <% 7. yy}45[ 'Synostoses, tarsal, carpal, and digital   %&s'A lUGabriele-De vries syndrome7J~ )3DQ[fqu49w< 8 4,j+.Nuc|Z3Ear pits, posterior helical!K rLessel-Kreienkamp syndrome$mFM_jkow  qj!))*o.xO q.Beck-Fahrner syndrome()QW\ fi]hG 1:j"*n01 vRONeurodevelopmental disorder with speech impairment and with or without seizuresm@    ')(,P,.00`m j Zttk syndromeTUgz%BDGUq{')S[fW]_k{GU H Z y | :M"*p+\++,..bw|h^` w cpCardiofaciocutaneous syndrome 4*PU\!a8)fjn Z ,}S nNephrotic syndrome, type 17 ]a [%\,1,5 ^QMyopia 19, autosomal dominant*d +{$Proprotein convertase 1/3 deficiency ,,,/[#:Keratosis, seborrheic, somatic*@z74 ]Masp2 deficiency OL,Mental retardation associated with psoriasis uBraddock-Carey syndrome 1"*\f ]Q *60a0cu wi lSpinocerebellar ataxia 44hD 7]$6Spondyloepiphyseal dysplasia tarda, autosomal dominantY _ z o"xvxwa h'1Epidermolysis bullosa simplex with nail dystrophy< ,EM)Lentiginosis, centrofacial neurodysraphicCContractures, pterygia, and spondylocarpostarsal fusion syndrome 1A#fmqS] Z y  %&& ):0avWl pHeyn-Sproul-Jackson syndromeQn y&K'Ac \PFrontonasal dysplasia 3<fq8| l h,Charcot-Marie-Tooth disease, axonal, type 2W  x 0 nm&f: cMeckel syndrome 11q% (X (0Bor-Duane hydrocephalus contiguous gene syndromeV&&7 p%Deafness, autosomal dominant 37 o;Intellectual developmental disorder, autosomal recessive 69))G  &| okGalloway-Mowat syndrome 6"]adu58 8  q,|~ x&Leukoencephalopathy, porphyria-relatedm %,|w<Malouf syndromeK/~"flu!g#,.>{zy Uk)GMitochondrial myopathy with A defect in mitochondrial-protein transport,  ]KLeopard syndrome 3# <Ufq'adnr 'w+x` Un Dystonia with cerebellar atrophy 4DR+/|OLipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency f- Z ~  u ..1y dv=Testicular anomalies with or without congenital heart disease 3>d n " v4= ^F kh.Ichthyosis, congenital, autosomal recessive 12;2#Hyperhidrosis palmaris et plantarisHFrasier syndrome %]ad q.Congenital disorder of glycosylation, type IIt,<B\fq1 <c *4*p./E/y0F01by{| wO dImmunodeficiency 19   N/{ vRMosaic variegated aneuploidy syndrome 7 with inflammation and tumor predispositionU[fEcW,./uvTj _D>Encephalopathy, acute, infection-induced, susceptibility to, 4= lFibromatosis, gingival, 5%, sKNeurodevelopmental disorder with dysmorphic facies and thin corpus callosum. <\fqz:@Mk` - 8 P n Z ''..001j v^6Pseudohypoaldosteronism, type IB3, autosomal recessive P[i V'; +Deafness, autosomal recessive 6m ; aUsher syndrome, type IJ \ EB Atrial fibrillation, familial, 3 m %@,? vDeafness, autosomal dominant 89m ,l H,Microcephaly, primary autosomal recessive, 6 <@ & !gg _Sclerosteosis 2/<Dm t  |$):)B k$Uncombable hair syndrome 3,uhX3z$Hyperlipidemia, familial combined, 3 Zz  4 E "|6|8 HC4Charcot-Marie-Tooth disease, dominant intermediate C x 7 g x z m#VdmvT Mucopolysaccharidosis, type IIIDI<mq>@Dikuo  8 `   E\!&**q+,0zz|i= x J$Macular degeneration, age-related, 3`f x  m,,,,. aXr)Cutis marmorata telangiectatica congenita +6 bN B5"Hemifacial myohyperplasia, somatic ;)u ]Y-Epileptic encephalopathy, early infantile, 11U  *p,P, H gN Amelogenesis imperfecta, type IF %+AS ]Retinitis pigmentosa 43 D9k: a-Peroxisome biogenesis disorder 6A (Zellweger)kq ^""),Pu`k dLeukoencephalopathy with ataxiacr ) 0 %,,dnw&.Mucopolysaccharidosis, type VI@ mtu0[ikfu*+,  ` ) 2 5 z  < m ()'*,,-./0-Y5Thrombophilia 13, X-linked, due to factor VIII defect A y7|Dwarfism, Levi type iURMental retardation and distinctive facial features with or without cardiac defects$7<EUqFM Mw &  +uo ]'Lipodystrophy, familial partial, type 46?Wluk#,CwErythroderma, lethal congenital 1Cervical vertebral bridges NGMaturity-Onset diabetes of the young, type 8, with exocrine dysfunction (,6Gastrointestinal defects and immunodeficiency syndrome%< ]`bf   #NP^s(*+\+^+/aa}6(Major affective disorder 1 w+Spastic paraplegia 90B, autosomal recessive!4@`  8 "|1XCardiofaciocutaneous syndrome 1]~ <U[fmq!1E V_gjHr Z | q/"&&&*7+,0x}_`w c1Ataxia-Oculomotor apraxia 3, 7 x %\mndl xmWIntellectual developmental disorder, autosomal recessive 80, with variant lissencephalyfF,C Hj&), W:Intellectual developmental disorder, autosomal dominant 22(7<?B[qy @KI H u  *p*+./1T Z8Bronchiectasis with or without elevated sweat chloride 3>u sHNeurodevelopmental disorder with dysmorphic facies and variable seizuresEQM 8 E,b|Mental retardation, X-linked 94P8CG  *p++l q fg5Charcot-Marie-Tooth disease, recessive intermediate D  x 0 7]#C&f,U `\!Pseudohypoaldosteronism, type IIC 6i 6 2,}BRlGilles de la tourette syndrome  8j)! c(Lethal congenital contracture syndrome 5=s [- g*c7Bloom syndrome- d0uTu> i " ,  qZ"bL? lDeafness, autosomal dominant 73%,bʐ:Thrombocytopenia with elevated serum IgA and renal diseasecQd oSNeurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia Bq14@C  1 u  \"..011bf42 YBrugada syndrome 5-/T rPremature ovarian failure 18  Ze  (".dmy N=Cortical dysplasia, complex, with other brain malformations 7()0:;N  =0I 8 Mass syndrome );b ZENS7Spastic paraplegia with associated extrapyramidal signsDT-Peroxisome biogenesis disorder 1A (Zellweger)T/~7<[\fmqDFC@ y7W]k.0)HN 7 p S   '~]eO!%)*8*p+.0P10 g)Mental retardation, autosomal dominant 36%z)<D@MfiG Zo#'G)*4*p0`3Transcobalamin II deficiency,SThop " '/X/e h"IAchondroplasia, severe, with developmental delay and acanthosis nigricans1mAZK.Wc,2 P / u 7 > z ]")q*p*.ua 6/Leukoencephalopathy with vanishing white matterje { 0 2 H%   )Qb1Deafness, neural, with atypical atopic dermatitis 3UCentral hypoventilation syndrome, congenital, 1, with or without Hirschsprung diseasefq8 =  '[.0,000|q|uDRetinitis pigmentosa, deafness, mental retardation, and hypogonadism DV/?e ^CAtrial standstill 1#+-c 8 ]}$Macular degeneration, age-related, 6`4fEOSINOPHILOPENIAO y|JCitrullinemia, classicr  %'I.[a m%%Immunodeficiency, common variable, 14  " +dv}Z vvEpidermolytic hyperkeratosis 2  7z8O aNephronophthisis 15 Z"j( ^(\ ,12 {a16hHyperparathyroidism 1 A ?Acropectoral syndrome &&3Camptodactyly 1 ^p}b pBPulmonary fibrosis and/or bone marrow failure, telomere-related, 5zR _2Colorectal cancer, hereditary nonpolyposis, type 4</RRn .Ectodermal dysplasia and neurosensory deafness i%W ACardiomyopathy, dilated, 1L clm  %,1xC MCataract 22, multiple types t I,Charcot-Marie-Tooth disease, axonal, type 2L Z x ; t %m,qDProliferative vasculopathy and hydranencephaly-hydrocephaly syndrome[#)V[GN  = #,XEzFascial dystrophy, congenital`&vt<8Split-Hand/foot malformation with long bone deficiency 1 z/+_$%T'}b A@&Homozygous 11p15-p14 deletion syndrome |J ]!O"m bo-Ichthyosis, congenital, autosomal recessive 9  70bbD f",Alpha-Fetoprotein, hereditary persistence ofnZR+Ventriculomegaly with cystic kidney diseaseSlV]G 9o,,dGnTaL(Membranous cranial ossification, delayed<\qM n1Factor VIII and factor IX, combined deficiency of 5.R4 9gInflammatory bowel disease 3] dx%Periventricular nodular heterotopia 6   +,N0~ JMeacham syndrome"%Ui-]_dkos) ##*---j-.PzhHCochleosaccular degeneration of the inner ear with progressive cataractsm iFCleft palate, psychomotor retardation, and distinctive facial features()AP f` D q&2+.0 1 .Ichthyosis, congenital, autosomal recessive 11e= +J3 ]Gastric cancer, somatic/^A pFNeurodevelopmental disorder with absent language and variable seizures FP fGX H r *p..0b|lu7Epidermolysis bullosa, junctional, with pyloric atresia $3t / ,NJ H Kt,Corneal dystrophy, posterior polymorphous, 2kB"Alpha-2-deficient collagen diseaseN FAtrial septal defect 2 ]_jksu{ 'Stiff-Person syndrome36Cqo 7 z  J.Immunodeficiency 74, COVID19-related, X-linked{u m4Charcot-Marie-Tooth disease, dominant intermediate Gm x 0 ?  %]u*&f,,^p"Postaxial oligodactyly, tetramelic & AB'>)SMenkes diseasef<z H u U  *U+Y J*Myopathy, myofibrillar, 2, mfm2g L n  ]n# #C#p1duu:Clark-Baraitser syndrome5bf9 Z )+uUPulmonic stenosis, atrial septal defect, and unique electrocardiographicabnormalitiesj +`Weyers acrofacial dysostosis Y&t qA 6%Ventricular fibrillation, familial, 1q* Tibia vara )_* w8Immune dysregulation, autoimmunity, and autoinflammationo -,bx?z~ l5Structural heart defects and renal anomalies syndromeSkq':]_d|5 *-[-.{6 mD:Intellectual developmental disorder, autosomal dominant 52; &<?Bq5@W 8 z  k!"B").P.0c 01Cholestasis, progressive familial intrahepatic, 3r~ ^ /x dCiliary dyskinesia, primary, 22s> S %u+d,////0`  pKNNeurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies(n %4<Wq8@[5 Z |+,PAS .d/Sebaceous gland hyperplasia, familial presenile%c} tYNeurodevelopmental disorder with or without variable movement or behavioral abnormalities48   \  j,b|4x f4Immunodeficiency 38 with basal ganglia calcification W  M, 1Nv{J ]D-2-hydroxyglutaric aciduria 2f0!NWilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome/Sp k(=b,Deafness-Oligodontia syndrome!O b)Mental retardation, autosomal dominant 18<BQE'  )*p t(Trichothiodystrophy 8, nonphotosensitiveWY '  C&,/NM u:Intellectual developmental disorder, autosomal dominant 675@ 8 j*n,?0G rNephrotic syndrome, type 24a%,1,z"l0 Myopia, infantile severe!(Nipples inverted r_3Hepatic venoocclusive disease with immunodeficiencyp !Ն:Microcephaly and chorioretinopathy, autosomal recessive, 1T,8) 3t&HSD10 mitochondrial disease"< gH ( H 8  Ablepharon-Macrostomia syndrome(6;><mq1f .  u q'A):)+,,,0aF.(Tardive dyskinesia|f 8Nephronophthisis 3SZ\]gil%s ,9Trigonocephaly with short stature and developmental delayUfqY]qZ[v7 dDowling-Degos disease 3)r= ]iAcne inversa, familial, 3+|0" ]\6Leukoencephalopathy with dystonia and motor neuropathym/4 * 0 g%9&f1z 0X6Ventriculomegaly with defects of the radius and kidney IUVhG 9t,&1&]H ABETALIPOPROTEINEMIA " F+X kAnauxetic dysplasia 2[t q x _  "b"x).S w#Woolly hair-skin fragility syndrome  }L Alpha-methylacetoacetic aciduriaV= [zB5Neuropathy, congenital, with arthrogryposis multiplex8X ( `mu| czJSpinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant+Ci +X L ( Z 6 0 ?  %k*e#"#V#]#p,. ucx6"Ear antitragus, tag at base ofVj B+Ciliary dyskinesia, primary, 2ms2> ///q"Pontocerebellar hypoplasia, type 4)8{ = > Y,P./NMucolipidosis IV"e 4@C (  MbqO+ ~ uhCNeurodevelopmental disorder with poor growth and skeletal anomalies! /BTWq5AFH  '&%,(,B0u [V*Spastic paraplegia 44, autosomal recessiveC  Z x e %J,% - Wilms tumor 4 kRitscher-Schinzel syndrome 2%<BQF)]_k5r  Zqk"&'G*80a|^S h #Epilepsy, familial temporal lobe, 8 P%.`G\Tremor, hereditary essential, 1~ ) J\ jSMitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant g 8  #.. eXia-Gibbs syndrome<[q5FA 6 '&&bb W Oculoauricular syndrome!q$78CdsP ,-0XNQc~, (Escobar syndromeC/<W[qz#$[,.\) S Z k+.""g#$&&&& &!,0avo U= EZBreath-Holding spellscD xSpermatogenic failure 90 ,vv02Cognitive function 1, social*,@Hernia, hiatusj sv6Leber hereditary optic neuropathy, autosomal recessive [%SX,,Nd'Dystonia 1, torsion, autosomal dominant 9C 4 Z n  ')/QϬChorea, benign hereditary  7 ,5Robin sequence with cleft mandible and limb anomalies+4[qH q{h"("1"g#$%%&2&K'A'}(*.u[] ^7-Ichthyosis, congenital, autosomal recessive 8*,bb l6Neurodegeneration, childhood-onset, with brain atrophy4@ H H w lX+X,.x1BKeratitis, hereditaryOC +4Cardiomyopathy, dilated, 1Bcl 9Q\(Dandy-Walker syndrome   O *6UV-sensitive syndrome 1  h  3hSplit lower lipl3jDAural atresia, multiple congenital anomalies, and mental retardation]_ f0Bardet-Biedl syndrome 7<S(u L[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3(N34Rf~ g > \hiju *w-0ZKPDuane retraction syndrome 15kz&T(Protoporphyria, erythropoietic, X-linked9c ^,/ w0Combined oxidative phosphorylation deficiency 582q<U,8g{ S  K '@ "&f* ,..0e12/c=1 or]Neurodevelopmental disorder and language delay with or without structural brain abnormalities*<BQuM_GI = H %'j,-g.|l@Vestibulopathy, familialm] ] ^4Chondrodysplasia with joint dislocations, Gpapp type[\mai' ) | Xp#&b'A0P3Paget disease, extramammary hD p Polydactyly, postaxial, type A10& @/RThumb, hypoplastic, with choroid coloboma, poorly developed antihelix,and deafnessm7& &2mAcrocallosal syndromeR/6 /4<?BQWfmqyM i&1 |q"%&'R(3)P*3*8*p+0wMaple syrup urine disease  8 "|4A= [KSaccharopinuria  1 o ~[ g:Intellectual developmental disorder, autosomal dominant 38%q@ 8 "*4*B*p,/0l oMIntellectual developmental disorder with severe speech and ambulation defects<Q@X  &*p+,P0 `Trichohepatoenteric syndrome 2<rV   '&+,,auho <Hyperoxaluria, primary, type ISy'r ] W AV!&f*,bcw+x[/[>%Oxoglutarate dehydrogenase deficiency4Gg  t&7 b>Focal facial dermal dysplasia 4,H 'Peroxisomal acyl-CoA oxidase deficiency&<qD'4 H o ^ r  '!";*p,P[Y u;Neurodevelopmental disorder with language delay and seizure5] e e j"B", p{Weiss-Kruszka syndrome%!mqz ]o G | qso!g%&,N.u`ztl/Dyssegmental dysplasia, Rolland-Desbuquois type7[J;`$ / W"%..0P0a O#3-methylglutaconic aciduria, type V/,_clmy  ""#2||^ Z>Attention deficit-hyperactivity disorder, susceptibility to, 7j.Myopia 1, X-linked!|~$,Fibular hypoplasia and complex brachydactyly "&K'A))* ^*Spastic paraplegia 47, autosomal recessive&BU'4C[G  ]"g*pc|bXݘ$Bleeding disorder, platelet-type, 16 Qdno ~K hOptic atrophy 8 <[bu.v f4Mitochondrial complex III deficiency, nuclear type 9,g 8 8'$".. l:Intellectual developmental disorder, autosomal dominant 45#8jI 8 H P Z %'j,uvDIridogoniodysgenesis, type 226 OJoubert syndrome 5Z# %  d s 7 <w2 i!Takenouchi-Kosaki syndromeB/z~<?BUWfqAF )@jk5QGH Z %+..e0au w*Spastic paraplegia 90A, autosomal dominant4@`  8 Z "|1Xn$Mesomelic limb shortening and bowing [ {XB70*Hyperpigmentation of fuldauer and kuijpers؄Multiple synostoses syndrome 16B}Fo Xq|S ! !A!#$O$%%&-&X&'}):).*2^MEGALENCEPHALYKaN%Coloboma, ocular, autosomal recessive 5ALdlc3{Retinitis pigmentosa 24T6 EDystonia 15, myoclonic48 4 Z7Emery-Dreifuss muscular dystrophy 5, autosomal dominantf- ~ %gku,-V n 2Tumoral calcinosis, hyperphosphatemic, familial, 2f 0xL 9&Welander distal myopathy  0 ]mAlexander disease  H j  %)",,/ 0Zcdn+ X'Chromosome 2p16.1-p15 deletion syndrome=6~UWfmqEa@AK08 G 1 j""%./N0a1 _=3-M syndrome 3 3EWfi  q(B.00I v)Oocyte/zygote/embryo maturation arrest 14 ,bH ]$Chromosome 17p13.1 deletion syndromeE"&BDKU\f@Mfi7 8 n u Z r t%'G,.1NQR>Osteogenesis imperfecta congenita, microcephaly, and cataractsP U b" X-Lipodystrophy, congenital generalized, type 33Wuk U 4 #h#K s Deafness, autosomal dominant 80 !O,o,s,t[\Basilicata-Akhtar syndrome+ ?mqy: @G [ *4.0a02 |g.bHoloprosencephaly 4Yi4 #*NC .'Trichoepithelioma, multiple familial, 1 o i#Leukodystrophy, hypomyelinating, 13@C y o  rl".X.Bladder cancerT% vDyskeratosis congenita, digenic<o o " -  %S "&*zCreutzfeldt-Jakob disease] %8 2 M j ^{ ]UTreacher collins syndrome 24[ sa!g&)tMyotonic dystrophy 19 ,E 2 "B"*p-FPCornea plana 2 8<(,Q^ aAortic valve disease 2joruw{ ENc= `(Cardiomyopathy, familial hypertrophic, 2 g. ,-1xq qSilver-Russell syndrome 2E[P qS,N~Ӱ>Methemoglobinemia due to deficiency of methemoglobin reductase9m ;/WNM[nV*Mental retardation, X-linked, syndromic 32 5@ch e{#Pontocerebellar hypoplasia, type 100U5}1@CGH | D "&%&.0` G !Gaucher disease, perinatal lethal3<E[qwVhQo)28G ( G |7}!g*3,?@Premature ovarian failure 1EZ l(Facioscapulohumeral muscular dystrophy 1 + ]kS# ##?),/0w[[rWMental retardation, X-linked 58 B!9OhLeukemia, chronic lymphocytic: \Q&Chromosome 14q11-q22 deletion syndromeA<EW[qE1'@CM]kw 8 u m |  'o!)0)*p,P.11u[``E-!Nystagmus 5, congenital, X-linked,/WxFraser syndromeD/6Y<Dqz1j| -fRBG[$) o w>:9!o!!!".%&'):[H3$Atrophoderma vermiculata Z R^(Pulmonary alveolar proteinosis, acquired*+.9u01NRaua| m!Chromosome 1p35 deletion syndrome+<[fmS@fiW   q&+,.01bby Z<9Hemolytic uremic syndrome, atypical, susceptibility to, 4 ]6Qo B ; <#Epilepsy, nocturnal frontal lobe, 3p0Thrombocytopenia with beta-thalassemia, X-linked QV .e|s x_#Osteogenesis imperfecta, type XXIIIPW ) n"dAtelosteogenesis, type I6<[qnz7BV[$  | Y p_ ""$&b'A).vz[8[Achondroplasia/Ka)2 u z   / e !"""..[_ (WBardet-Biedl syndrome 3YD <Y X9Intellectual developmental disorder, autosomal dominant 3bpDystonia 11, myoclonic89 4%,bx2 MY"Chromosome 10q26 deletion syndrome@.6L <?DEW[qF 0S^a_k<Xr zkqM"$ s$Portal hypertension, noncirrhotic, 2zQ9 ^%,.0Zxz n-Epileptic encephalopathy, early infantile, 6714IK  1 H  *C,4 d4-Developmental and epileptic encephalopathy 18\@_{I 1  f1 u&.Developmental and epileptic encephalopathy 1018~8 u 1'",P.1 | hTPEncephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 %0y  -eFacial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs%D8R;Alfl $'G*,,1UN{G oLNeurodevelopmental disorder with microcephaly and structural brain anomaliesTF 3CK  =  j&*p,P|O/IFAP syndrome with or without BRESHECK syndromeD/hnzm1e6-<_Gt  Z NO ,0z;& OSpinocerebellar ataxia 28U4 [ %],.{GVentricular extrasystoles with syncope, perodactyly, and Robin sequence q#'( sAicardi-Goutieres syndrome 9? 6S]`564@su Vo W 8 Z ^ or,R"%&f.~g s/Central hypoventilation syndrome, congenital, 3 k8 >'.0:0Oculodentodigital dysplasia, autosomal recessive1GW[q!8 u &&))),N.1 w q]6Vertebral, cardiac, renal, and limb defects syndrome 3zko ^o(B*-v4 xOptic atrophy 14m KMental retardation, X-linked 45G AAmyotrophic lateral sclerosis 3 I >S)Nail disorder, nonsyndromic congenital, 7>txS soEAutoinflammatory syndrome, familial, with or without immunodeficiencyc 0  %,,/Nvv_&.ǸSella turcica, bridgedI n3Mitochondrial complex I deficiency, nuclear type 17,4g H Z 8  +,./`11 x $Cardiac valvular dysplasia, X-linked<Pfkbcou{<$-<0 G Nablus mask-like facial syndrome76B&*<?GUWfq1ES<  | l%'}./0a1uO nRetinitis pigmentosa 84 \9,wYOX'Cardiomyopathy, familial hypertrophic 1c-Hj,Multiple exostoses with spastic tetraparesis Z ;Wiedemann-Steiner syndromeL<W[q>EP}f_k'7Xr 8 Z qS"$%&K+,",.0P1{  wjf$Mucoepithelial dysplasia, hereditary m5ejH<pX*t NO &,z}r4FCataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1adG[m8 %#,131vtEpilepsy, pyridoxine-dependentKU S'*cNb=[v UJTremor, hereditary essential, and idiopathic normal pressure hydrocephalus9G 'uK dDeafness, autosomal dominant 58h%,, r#Coenzyme Q10 deficiency, primary, 9;89D )j*qbf{f1dRadioulnar synostosis !-Andersen cardiodysrhythmic periodic paralysis9<DEGQ[qED0fyH Z T %kqs@f&K'A)1adluQ w ]-Congenital disorder of glycosylation, type Ip&\'@ r ':P+.C <Deafness, autosomal dominant 23Ls0 d Asparagine synthetase deficiency@<T[aj()9C)-Gy $ =  '\"#&)'*c,P,./N01NMNNd@`j +Brody myopathy,[ L k '~##V)4,|R9!Trichodiscomas, familial multiple;n r*Spastic paraplegia 83, autosomal recessive   [ B I %\q eW%Immunodeficiency, common variable, 11  .?0Zv}?T\$Jervell and Lange-Nielsen syndrome 1my @!O< nSpermatogenic failure 32 ,.[,+Isolated growth hormone deficiency, type II8G Z ),vU NRetinal cone dystrophy 3A e%T*w AniridiaAa;N FO&*,2)|^ T; Y"Deafness, autosomal dominant 59 k iPJoubert syndrome 266<8g ( . AGeleophysic dysplasia 1.7?WF0kTcr, q x  | %()SG'Parkinson disease 1, autosomal dominant 48{|  8 : G \,|kޗ?Thrombophilia due to deficiency of activated protein C cofactor A =/t&Neuraminidase deficiency"] ,8CFfh ))/[7 t{Oocyte maturation defect 11 ,9Deafness, mid-tone neural, k Myoclonus, intractable, neonatal88  'D.Ny`K :]Cardiomyopathy, dilated, 1Ichl 1xwuZ3Epidermolysis bullosa, junctional, Non-Herlitz type    N _*Mental retardation, autosomal recessive 33' &X ;8Renal cell carcinoma, papillary, 1, familial and somaticn u3uIntellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly5; 2 8 %j+,//0NMl< iPremature ovarian failure 128JjOsteoglophonic dysplasia<)//<GPWqJrS2 c t |  yW"&2&K&b'A),(,.J%x&Iron-Refractory iron deficiency anemia_, |?lPMuscular dystrophy, Barnes type ~ AKabuki Syndrome 16IJKLQSUVYnz}~<?[\fmqzCPY}58=SS]^fi L]_adkorwV,4r P   Z  |  %'qsb,L !g""$&&E(J)*4+,u,,-[-j...1(2v{}0SC oUArthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentL~[sMS  bt GHAmyotrophic lateral sclerosis 6, with or without frontotemporal dementia L  cOMandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome@[3WuTk Z ^3#|XG d)Hartsfield syndrome/6<fqYi'S ZL Pelger-Huet anomaly$<]QRSn [ d #C#&`'9'<'?(+, v5JHypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2   B ***,N8JLaryngeal adductor paralysisI <$Triglyceride storage disease, type IG /12 DPatent ductus arteriosus 1k[ OCataract 21, multiple types dP %d(*G uO'Thyroid hormone metabolism, abnormal, 2 4 &Hall-Riggs mental retardation syndrome<@ Z "*6 J1Myasthenic syndrome, congenital, 1B, fast-channel[U'L Z < ? J K  j)vvoEB!Pseudohypoparathyroidism, type IIT U Y ]tޠ(Muscular dystrophy, limb-girdle, type 2A[X  %k),}? b#Episodic pain syndrome, familial, 1 }%t Paraoxonase 1M _p)Mental retardation, autosomal dominant 10 &,B wIXerosis and growth failure with immune and pulmonary dysfunction syndrome<WJnC_7!g"**.0^0d@wQ0=pIchthyosis, Bullous type3\Hypophosphatasia, infantile*yPSo8fz c b ".XcV[H aImmunodeficiency 32A  ,Nv}Opitz GBBB syndrome*/6L<?]fq(I]  "/*+c? bKEctodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive1_ 0` ePLMicrocephaly, progressive, with seizures and cerebral and cerebellar atrophyTUfqYC GU e '\&1T d8Macular degeneration, age-related, 15, susceptibility to` 8 wSpermatogenic failure 87 ,[u n2Mitochondrial complex I deficiency, nuclear type 24CDLg-8Gg{  %'=)0,..04Craniofacioskeletal syndrome(/~BE[fE)]_k 4 Uq!g,-[1 w-Q\Lipomatosis, multiple `.Congenital disorder of glycosylation, type IIl3rz irt]_kQTd G ^ S o;0 cx; W'Colorectal cancer, susceptibility to, 3 C GDeafness, autosomal dominant 41h%dl fGlCataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasiaE/W[5>8I[^fWH Z [ g u ) x | X Y  Im &f(B+-. j-Epileptic encephalopathy, early infantile, 43  8  jf*C04f U<1Intellectual developmental disorder, X-linked 113,y v~Spinocerebellar ataxia 50m8~ ) * 2 ,}y o6Cerebellar, ocular, craniofacial, and genital syndrome &?Wfq"-I)@ "+.1/N< b Left ventricular noncompaction 7-wK:'Hypomelia with mullerian duct anomalies"$n vCongenital myopathy 15,fE <0a1vo~UG ]Retinitis pigmentosa 409 , f:Microcephaly and chorioretinopathy, autosomal recessive, 2 T[8):@  &/N^ Thanatophoric dysplasia, type II)-G t u q"=Ichthyosiform erythroderma, corneal involvement, and deafness!3eyr< ^  &f*U./xH vSpermatogenic failure 80 ,./0O QOptic atrophy 5 ([m %]dnv d;Intellectual developmental disorder, autosomal recessive 41  /<GI%q+,xOl[Porphyria cutanea tarda rz<(IPierre Robin syndrome [p S "B &Dyschromatosis universalis hereditaria  U/Combined oxidative phosphorylation deficiency 5![fq gg 0 8 e "...0dHw#_Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features[qI E P u%M+Y,, U a!Peroxisome biogenesis disorder 8B.,'D y 7 o  \&f)K+X,,00uc l Mental retardation, X-linked 1036@N,!| +VMullerian duct aplasia, unilateral renal agenesis, and cervicothoracicsomite anomalies VhzD[- .Y d-L-ferritin deficiency, dominant and recessive<%070K _AMeckel syndrome, type 9 >%&bj cLNephrotic syndrome, type 8]d '^1!1N`< GSynpolydactyly 2 %%(vGalactose epimerase deficiency  ,.. B5Mental retardation, X-linked, syndromic, Cabezas type1/6/\y7) 9@f<GN ""&1 w t3Tessadori-van Haaften neurodevelopmental syndrome 2/<B5Fu@  wkNeurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction4C  ,<H`$Labia minora, incomplete adhesion ofwKRhizomelic syndrome [j "%&A A%Melanoma, uveal, susceptibility to, 2 $~ v.Developmental and epileptic encephalopathy 107 ""0eN rMyopathy, distal, 1l Z z u ]u#G#]#u),,.ucz? I!Larsen-Like syndrome<q ]f q$?+0P1Intellectual developmental disorder, X-linked 108W ,D X  &  uqj&.bc|[ vt#Ichthyosis, annular epidermolytic 2  * it<Myoclonic epilepsy of Lafora<8wIK ( ?^+vr&Lymphedema-Hypoparathyroidism syndromeSp=b+ y:"Urticaria, familial localized heath `SBrain small vessel disease 25GNTz )~ *>WFibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvementA0 %)//bv_V NMultiple synostoses syndrome 2  %%2 TNephronophthisis 7Z\; qGalactosemia IV'.9 Vici syndromeG<EUW[qY PS(_cflSZ`  ~  M+ "#)*3+0C PF'Diabetes mellitus, transient neonatal 2Z ?; nPolydactyly, postaxial, type A9&w o3Mitochondrial complex I deficiency, nuclear type 25 V 8 ~..wi!Autism susceptibility, X-linked 1  1 H, c3DHydrocephalus, congenital, 2, with or without brain or eye anomalies!f7dPq6;/_G &u`wc qRetinitis pigmentosa 89mso,bFvyw }7Mental retardation, X-linked 20=Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome!"S_,/1< u  \yw),01N p-GHypopigmentation, organomegaly, and delayed myelination and development< V *n*{|Schilbach-Rott syndrome/[fEFY uMj!g.ud f(Monocarboxylate transporter 1 deficiency  g %,.1 [;BImmunodeficiency due to purine nucleoside phosphorylase deficiency(  9`bp* i  M;.0zz;< nw;Intellectual developmental disorder, autosomal recessive 64@F *p.1B`*Basal ganglia calcification, idiopathic, 1*49CW|  2 f \ X,| jChitayat syndrome'<UW k2 'q|]#%@%i'{0v@DERMOODONTODYSPLASIAt QSpinocerebellar ataxia 31 + c,Immunodeficiency 7, TCR-alpha/beta deficientSb  #,Nh}=}SGranulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II(      %h#&=,abH2q_ hRetinitis pigmentosa 72em 9k*,w El"Pontocerebellar hypoplasia type 1A)),CD-H 8 J L ^ u \m,We",/N ,4Arthrogryposis, renal dysfunction, and cholestasis 1*\pyT[mq ;i]_wQ\d 3 \ ^  &Nx B"Pupillary membrane, persistence of&46Hyperpigmentation of eyelidsl \(Muscular dystrophy, limb-girdle, type 1H , ]gu##A\!Osteogenesis imperfecta, type IIIE[mPs, U Z  kb~ ""[ rLNeurodevelopmental disorder with or without early-onset generalized epilepsy4IX H  j+,|8Tubulointerstitial kidney disease, autosomal dominant, 2Y\`l6oHe 7 |/C g Dystonia 27 ~ ) 4 %,//rV.Calvarial doughnut lesions with bone fragility  Z | S u j)Lethal congenital contracture syndrome 114[) 40a1 t;Intellectual developmental disorder, autosomal recessive 73' U^fq C]k  B Z 'q`.wf hGSpastic tetraplegia, thin corpus callosum, and progressive microcephaly@CD    B,S pt+Lower urinary tract obstruction, congenitalL!* kPCSpastic paraplegia, intellectual disability, nystagmus, and obesity$%B5E:CM   ,"+,bucGP/Modifier, X-linked, for neurofunctional defectsC _ Hyperbiliverdinemia9t}O!Pseudohypoparathyroidism, type IA %75T'W | Y ]  0$'A)Sb+Pancreatic insufficiency, combined exocrinec /i W-Maturity-onset diabetes of the young, type IX g g (,b~p9 H Parathyroid carcinomaK |QImmunoglobulin A deficiency 1  JTHeimler syndrome 1  Jx0Spinal muscular atrophy, late-onset, Finkel type9 L B u muedn% Tune deafnessm Danon disease",cghl G %jtu~*,-1zadu h -Developmental and epileptic encephalopathy 50oUX H  \,09 o YHypoglossia with situs inversus[q2 +"9 GLeukemia, chronic myeloidGIhChordoma, susceptibility to %%x* , lPilarowski-Bjornsson syndrome3u  ")+Z+.a j_PERCHING syndrome%2 Z .0abXXTLymphangiectasia, intestinal ;` ! )W gp#Myasthenic syndrome, congenital, 17 , K .? oHydatidiform mole, recurrent, 3 ,}=~Metacarpal 4-5 fusion qM'?& ]&Chromosome 3pter-p25 deletion syndrome< <EW[mqEFuP@5 1 s]o'"&%./wX As@Vitiligo-Associated multiple autoimmune disease susceptibility 1*> O,Microphthalmia with coloboma 38d dV4Alacrima, achalasia, and mental retardation syndrome$BEm N CK S  '&&(.NQu4Phosphoribosylpyrophosphate synthetase superactivity)/SEmq!Ye M | &f+@!ESpondyloepimetaphyseal dysplasia, X-linked, with mental deterioration3&<q>st[ H U [ 5 ~ "U$)Y,.1 f9Bardet-Biedl syndrome 16Shknm"2 (. ULissencephaly 3 (;GN = '*B*p|~ p3CNeurodevelopmental disorder with visual defects and brain anomalies'mG Z s]:"3"..01b|`F gThrombocytopenia 5 QSo12OSTEOMESOPYKNOSIS [* g>Frontotemporal dementia and/or amyotrophic lateral sclerosis 4,CHa > L \rD.Ichthyosis, congenital, autosomal recessive 4B V $ ky:Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail typeB &+p}2 jOPatent ductus arteriosus 3k3Corneal fleck dystrophyeId)Microphthalmia, isolated, with corectopia!8&D JCd8 deficiency, familial> M.)Lymphoproliferative syndrome, X-linked, 1!wQST{ O I i  *+,.?/|/u{6YCystic disease of lung  < i%Heart and brain malformation syndrome( <Ufq8(]  o"&+-[0A) Wilms tumor 1 k [{)Cardiomyopathy, familial hypertrophic, 13g. ; %%,--/1x c/Methionine adenosyltransferase I/III deficiency 4C +Xy3=Mental retardation with optic atrophy, deafness, and seizures mjuIX kc0Anterior segment dysgenesis 6, multiple subtypes?,,, k'Lissencephaly 88)@%GN =  '\"*n0||1o bD+Congenital heart defects, multiple types, 2 ]cdor{ N}\Aicardi syndrome7D8L:| (:N  U n Z D y ,"%&@)q*+Y/0x  { \/Neuronopathy, distal hereditary motor, type IIC 0 < n u]"""#]&f,vY a)Cardiomyopathy, familial hypertrophic, 21bg zV; ^]Hypotrichosis 3=,x 9x,Ectodermal dysplasia/skin fragility syndrome1  iEven-Plus syndrome LY!_w ` | Y M !g)O.} wGAMitochondrial complex V (ATP synthase) deficiency, nuclear type 7 4 'l0cD BA Crigler-Najjar syndrome, type II ^ Z[9 .Preaxial hallucal polydactyly31L pSpermatogenic failure 39  ,/./02Mucopolysaccharidosis type IIIAmko 8 Z ,= V +Nephrotic syndrome, type 2 ]ad  %^,@ tSpermatogenic failure 57 ",.y> =Cerebrooculonasal syndrome/2!<QWfqad(S$G | "&*6+2~GW g/Night blindness, congenital stationary, type 1GmEhvDohle bodies and leukemiao+g LHCEpidermolysis bullosa simplex 2E, with migratory circinate erythema'y M EFebrile seizures, familial, 8I E X*a,v v*Spastic paraplegia 79A, autosomal dominant  [ %*w, M7Mitochondrial DNA depletion syndrome 2 (myopathic type)m E V 8  ?  \jt "#,...vxvon Willebrand disease, type 1br 5 /sC ('Palmoplantar keratoderma, Bothnian type,OEarlobes, thickened, with conductive deafness from incudostapedialabnormalities[yd!A!, e[=Cortical dysplasia, complex, with other brain malformations 68(: = %,b~~g n|Immunodeficiency 57> '&=*B8 ;qBrooke-Spiegler syndrome h U5Krabbe disease, atypical, due to saposin A deficiencyC-G ( 7 > j  b.xz~S/Hypohidrosis with abnormal palmar dermal ridgesL`.Congenital disorder of glycosylation, type IIm-J%/B>6)@2_  u X ',+R+Y0| 8 L Left ventricular noncompaction 2- v$-Charcot-Marie-Tooth disease, axonal, type 2II, 7 Z g w \ Z""#%#C#],oImmunodeficiency 43>  %*acdlBBB_ k#Cone-rod dystrophy and hearing loss `eQ,,/LR Amelogenesis imperfecta, type IA%y R)Phosphoserine aminotransferase deficiency(88'l.//V p i-"Heterotaxy, visceral, 7, autosomal_ns Gk('-(---[-.x*Multiple acyl-CoA-dehydrogenase deficiency$Nqr\y#,-u)2{ 6 ]  N ?dh v$Rhabdomyolysis, susceptibility to, 1 S %g)j,/'?Mental retardation, X-linked 84Q ]NMyopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related L-8 >  '^Y=Hemosiderosis, pulmonary, with deficiency of gamma-A globulin& t wN$Osteopetrosis, autosomal recessive 9K=oi S "**1Q m0Combined oxidative phosphorylation deficiency 34/uwTg m 8 B  !O, Fructose intolerance, hereditaryrrude X ^  % 8 M>+U Q vaBranchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndromeK" !<D[\q8Ld5S_w,  sf Z !A!g!&%&D'G(8)*+.u0Myopathy with exercise intolerance, Swedish type#U,Zo.g 7 a 8 ~ < B % r z ,../_I?Ciliary dyskinesia due to transposition of ciliary microtubules12/Q hC!Deafness, autosomal recessive 104 c o7JCitrulline transport defectS \Retinitis pigmentosa 58 `u%9: p b4Mitochondrial complex III deficiency, nuclear type 3 g .1Nn||/PDLichen planus, familial jZHermansky-Pudlak syndrome 10?qYS 4S 8 1 u "+,P. UFAngiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsSk=p BPx~EK `83Melanoma, cutaneous malignant, susceptibility to, 8/ X%Chromosome 1q41-q42 deletion syndrome1 <BUq8FY)P]<)G Z ^!g*4.0: ULipoprotein glomerulopathyS]16Major affective disorder 2 C _]Hypotrichosis 9 l=3Diastema, dental mediali eCuller-Jones syndrome6Yi)-. gTemple syndrome)B[f: [fVk Z 4("+.cu w d2=Primary aldosteronism, seizures, and neurologic abnormalities6]w,  T  --`  P c$Bleeding disorder, platelet-type, 15Q.ey~i Vb9Ventricular tachycardia, catecholaminergic polymorphic, 2~,{I w)Oocyte/zygote/embryo maturation arrest 17 , K-Spinocerebellar ataxia, autosomal recessive 7 Cx~  ],dlu.+Mitochondrial myopathy with lactic acidosis4g P 8 ? \u,0Z0uc|Central core disease',^[ Z  ']gB.vvo| 0TJPierre Robin sequence with pectus excavatum and rib and scapular anomalies [ f kJ+Epilepsy, early-onset, vitamin b6-dependentWFu8-8Gg  'l*c0NMNb< Oral sensibility, disturbance of  ;lCentralopathic epilepsy1 | KMyopia 7!WPConotruncal heart malformations <|'G5/6Thymoma, familial- h( _Paragangliomas 5 lV2Cryptophthalmos, unilateral or bilateral, isolated8f&r d|6Neuropathy, hereditary sensory and autonomic, type VII ", m0,S niWIntellectual developmental disorder with dysmorphic facies and behavioral abnormalities{b%/3<?BEQW[\fqu})BMf_<M3; 8 H  | DZsN!g&l&(8)*4*<*+,,B0NMuzz| wAZ u 2Epidermolysis bullosa, junctional 3A, intermediate N  Z3MC syndrome 2'/U!<QmESf v {"#,*M uoRenal hypodysplasia/aplasia 4) > *dd9`kMelanoma-Astrocytoma syndrome%x/? MTShort QT syndrome 1m/b aMyopathy, centronuclear, 4, 7 'g,lZ,Malignant hyperthermia, susceptibility to, 2 i Y 8 ~ #U,,+ Argininemiat 7 ' ",= t m(Kleefstra syndrome 2> M Z .clD Obesity-Hypoventilation syndrome B _Edict syndrome 3n,WWoolly hair, autosomal dominant  ,_} t)-Developmental and epileptic encephalopathy 979G u  '+Y/b|h Mandibulofacial dysostosis with macroblepharon and macrostomia7<?W[f>}!g0P_Watson syndrome<fq+j & ,OudC RPBranchiootorenal syndrome 2Snm,DE ov%Cone-rod dystrophy and hearing loss 2eFPostaxial acrofacial dysostosis6M[qzq^ ["&2 qBAgenesis of corpus callosum, cardiac, ocular, and genital syndrome263<?BQWfq7sr P <'j"="*n+0~GQflFNeurodevelopmental disorder, X-linked, with craniofacial abnormalities2%&?BETW[q  Z qsj!g&(),-h.|AAJ (Waardenburg syndrome, type IIBL R Holoprosencephaly 9<6BDGf8Ya8gD:P | UL&(2)))*p+,.`2Dental noneruption a3Charcot-Marie-Tooth disease, demyelinating, type 4FDX Z x 0 4 7 ; H g]jm"*w+X,L,Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency+X`b*3 T  "  'MN0 *+s/vAyz ] O)Spastic paraplegia 33, autosomal dominant C  , p UNeurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities' %/75A f 8 P  q+Z+0 N Glutamine deficiency, congenitalq [~8 [ p S | e,*,P0a0wD*Teratoma, pineal g &@ n 2Tumoral calcinosis, hyperphosphatemic, familial, 3g Y ]J 0Zcaz ZXAicardi-Goutieres syndrome 5[QW 0 o  '=""%,vw d%4Anemia, hypochromic microcytic, with iron overload 1o | /d0a}T$Greig cephalopolysyndactyly syndrome5/ <\3)S[_&,1Gt {  %'G'K)G,(,B.xO -Mucopolysaccharidosis type IX%(,Nxvxwxx}Hh[Ia 9Spinocerebellar ataxia 11C]%C, vu.Developmental and epileptic encephalopathy 110Uq@I  u 6 m"*4,?.1{` w? 7HDL deficiency, familial, 1zk = dj!Parkinson disease 20, early-onset]49UH| :\# 0Zc9c;dmdnt ^H4Chronic granulomatous disease 3, autosomal recessive   b+c+d+w+,V *6Proximal myopathy with focal depletion of mitochondria ul gHAmyotrophic lateral sclerosis 22 with or without frontotemporal dementiaa { WMeckel syndrome, type 6Uk,s&%) 2(,,_Ohdo syndrome, X-linked;.16<?EW[fmq8E@fi5 Z!g%&2&+.u RRaynaud-Claes syndrome / 4@  H P Z .` I-Multiple tumor-associated chromosome region 1 kW m5Retinitis pigmentosa 80 j%9',,o dLCiliary dyskinesia, primary, 26> Su+d////0`  ! p~]Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies-&/?BTUfY3)V. = S e &*4.1`bDeafness, nerve type, with mesenteric diverticula of small bowel andprogressive sensory neuropathyq F m&f6ZDermal ridges, nelson syndrome5W eImmunodeficiency 20   +d/Nvxl}Aa#ASpinal muscular atrophy with microcephaly and mental subnormality/)nGM2-gangliosidosis, AB variantj 4C  C u   X"*U ezYNeurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities;&,F'(@Cj Ir &  "*p,,.bw|h4`Xf 8ACERULOPLASMINEMIA"3ox \ coI! Fg syndrome 2 ''G++F*Diarrhea 1, secretory chloride, congenitalIP[V T V )  %X}C \'Fanconi anemia, complementation group Ok~[ %&1&2aLANOSMIAd k$Bleeding disorder, platelet-type, 21 <Qd M.e ^e,Dyskeratosis congenita, autosomal dominant 2!)slQSTZ{t  % *,/U [-Maturity-onset diabetes of the young, type 103 ( uR&Autoinflammatory-pancytopenia syndrome]sT 3 '#%/|{}+= 7K _/Pregnancy loss, recurrent, susceptibility to, 2, M u:Ovarian dysgenesis 10 7%   ("(.9FNuchal bleb, familial*~ r>Vertebral, cardiac, tracheoesophageal, renal, and limb defectshzQqMr  sj-gkx-Anemia, congenital dyserythropoietic, type IaV X  G_*, /dNc[;2Tumoral calcinosis, hyperphosphatemic, familial, 1yKN Y S%Fwzz; 8Duane retraction syndrome 2&ODThrombocytopenia, X-linked, with or without dyserythropoietic anemia q _*H(Spastic paraplegia 3, autosomal dominant C v Z  %")6Y`1Deafness, congenital, with vitiligo and achalasiam R.Giant axonal neuropathy 1, autosomal recessive#e%C ( Z x 0 4 > %]mu,ZX) 8TMicrocephaly 2, primary, autosomal recessive, with or without cortical malformations,/T[;CDVN & 1  &)*p,P,f(8Filippi syndrome >BQ4]R"&%),G1S.Appendicitis, proneness toh .Cone-Rod dystrophy 6$e9:,/_ j@/Night blindness, congenital stationary, type 1He ,co m#Leukodystrophy, hypomyelinating, 14mj 4@ -. R7Spinal muscular atrophy, distal, autosomal recessive, 4 > Z u ^mque%,h JSpinocerebellar ataxia 89 X\&ft gX,Charcot-Marie-Tooth disease, axonal, type 2U x 0  ]m#C#v `Baraitser-Winter syndrome 23<Wmy8M};G lw j.Charcot-Marie-Tooth disease, axonal, type 2A2BmT Z x ; u*#C#,N GRetinitis pigmentosa 7 DmlGlycogen storage disease II(m,h-.Z juP-#[,,-c[y}[[pz"Pulmonary hypertension, primary, 16,. d0,Y,1 v:Leukodystrophy, hypomyelinating, 26, with chondrodysplasia @f  o Z q  p ")Y.0Pw.ڪTeeth present at birth+ Py Cataract 23#< O Deafness, autosomal recessive 65m [D-glyceric aciduria+6a'8CDk~HU S  ' `"1_[[{ v7Ciliary dyskinesia, primary, 49, without situs inversus > +d,//0 t uRestrictive dermopathy 24~02 ,.b0xApnea, central sleep)' pFNeuropathy, hereditary motor and sensory, type VIC, with optic atrophy' c %\*,!wwMental retardation, X-linked 99/Vf 'G+,(0:Diamond-Blackfan anemia 14 with mandibulofacial dysostosis[ !g..1v> c5Charcot-Marie-Tooth disease, recessive intermediate C Z x 0 ; g  %m[Partington syndromeE[ 1 0a0@ ^ Deafness, autosomal recessive 29m`8Linear skin defects with multiple congenital anomalies 3!48l  ,". m\dNeurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive14@H 1  *p.1bl G gRetinitis pigmentosa 71 Z0w d 3Retinitis pigmentosa with or without situs inversus> 'k,/z YX9Lymphoblastic leukemia, acute, with lymphomatous features iAGX u_@]_jk Z G]$&*3-(.5Dosage-Sensitive sex reversal/i6DBiliary atresia, extrahepaticr X ^  \z Z*..z 12&Weyers ulnar ray/oligodactyly syndrome~[Y _$%&10DMyopathy, congenital ~ m-Microcephaly 20, primary, autosomal recessive YT8aj )[ 'oj&*p*,0 W nCardiomyopathy, dilated, 2C l,g ',1x:"Palmaris longus muscle, absence ofV I:Deafness, autosomal dominant nonsyndromic sensorineural 28\^ ^d.Dyskeratosis congenita, autosomal recessive, 3T  vz@Pemphigus vulgaris, familial ui J 8*Advanced sleep phase syndrome, familial, 1C| b?Facial dysmorphism, immunodeficiency, livedo, and short statureQ> ] " z(4@Central incisors, absence ofH f7Bardet-Biedl syndrome 14S( vXNeurodevelopmental disorder with absent speech and movement and behavioral abnormalitiesm)9g 8  ')*p. 5A%Bosma arhinia microphthalmia syndrome,/6;<y48M&,.A,Nephrotic syndrome, type 1S\]`d5 S    4 ^!/ xArthrogryposis, distal, type 12"<qb Z ~ qB#&y l cc8Hypogonadotropic hypogonadism 18 with or without anosmia m  ct%Charcot-Marie-Tooth disease, type 4B3Z Z x 7 %\#])20>3("Tinea imbricata, susceptibility to. Right atrial isomerism (Ivemark)]_djs5G(---{M|Z):Ovarian fibromata)z n2Mitochondrial complex I deficiency, nuclear type 3 4C- H \X.; fVesicoureteral reflux 8 LQf Z4Zechi-Ceide syndromeE()<&)+..'1Y (=Pancreatic beta cell agenesis with neonatal diabetes mellitusY [Tuberous sclerosis-2)km5:0~ H tj&%x%z%%%%%%%%%&&)w* +Y01N Sn.Congenital disorder of glycosylation, type IIhD<[qFq8@GU  H u Z q ^ | n lBc")*.0 0aa|}!8Sg|#Retinoschisis 1, X-linked, juvenile "Q*0w&xh2Leukemia, acute, ?x-linked D [Cardiomyopathy, dilated, 1EEcl 1x;ƨ#Spatial visualization, aptitude fors cECongenital short bowel syndrome    +\xxxp.LChylomicronemia, familial, due to circulating inhibitor of lipoproteinlipase*Goodpasture syndrome$S]c o+9A ; B*,0Z1+1G1I1b7b[c.c0xn}}$ qeMuscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 I ~ gbv|S pLessel-Kubisch syndrome SY6T fYPA2 (Macrocytosis, familialO d=Bainbridge-Ropers syndromeZ<KT[fq>Fu: @AW  Z |/,$<%+,B,P,.xO|`ln TLeopard syndrome 2 /<qg 4Coarctation of aorta k-Epileptic encephalopathy, early infantile, 54 8@G 1 H f*C0z GfPErythrocytosis, familial, 8klm [JRenal tubular acidosis IIIy T. pkaNeurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities#<\ MG 8 q.bcy| gfCole-Carpenter syndrome 2!4<EPsT U 4X["))*n.w= bCone-Rod dystrophy 17$[eV I6Epilepsy, idiopathic generalized, susceptibility to, 3 o>Myopathy, congenital, with fast-twitch (type II) fiber atrophy[ 8 > K u.vo`px.Ehlers-Danlos syndrome, kyphoscoliotic type, 15b!3Pjs",]^fc- kN]! a|[[*Mcleod syndrome,4fl ~ n Z//+Nc[x||4S vDeafness, autosomal dominant 85   %,,:Short-rib thoracic dysplasia 9 with or without polydactylyaIZkn%<?U[\fq&,<F`6Sst'oG u 4   qo:"#%h&K'(B)+,uxOVjSmith-Magenis syndromeQO/Adm!F4 @I[<GIk 1 8 Z 4'q|m!&f**3+,N.//w|i~~ M4Parietal foramina P$ U V ."Ceroid lipofuscinosis, neuronal, 6 "  9 nLiddle syndrome 36 T  6~Erythema nodosum, familial*/*Coloboma of macula\v _U.Spinocerebellar ataxia, autosomal recessive 11]\+,#'Mosaic variegated aneuploidy syndrome 1;/06>k<W[\fqFo )_juGK k | W"",P.w X r(3Mitochondrial complex IV deficiency, nuclear type 4 uc~8g  {""0||DE saAngioedema, hereditary, 5Zv.z 9G/Cancer, familial, with in vitro radioresistance hg w+Disabling pansclerotic morphea of childhood S` S+,08X j r&3Mitochondrial complex IV deficiency, nuclear type 31 ,DfUg 8   'h "16Grant syndrome[P U  U; a~Tremor, hereditary essential, 4~ )b|7Leukoencephalopathy, diffuse hereditary, with spheroids#C{| 0 2 :  ^"=dnM} lFraser syndrome 3.[qf'5" *0 1NJ$Immunodeficiency 59 and hypoglycemia,[- '&+c/90vBJ$.Hirschsprung disease with type D brachydactyly&2 nSaul-Wilson syndrome*[mPSG q D *"#&'A')T)+C ]~Retinitis pigmentosa 47D mGalloway-Mowat syndrome 4]ad< )M  N  !,.y3 ULong QT syndrome 11%@"$Mitochondrial myopathy with diabetes  hjuZ )0dnp aPEncephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5,0U -#)Hunter-Mcalpine craniosynostosis syndromeS Q *L9Deafness, autosomal dominant nonsyndromic sensorineural 4.Spinocerebellar ataxia 6F #H   7 %\\+,"Lesch-Nyhan syndromey4C>ae u M %,,l +E'Fanconi anemia, complementation group E!QUVhm8/[QSThou &1&2& K 1Salt and pepper developmental regression syndromem< 8@U H [ '"*Y0g`P<Premature ovarian failure 2B 7  ,(I w Hematuria, benign familial, 2] [ %\Ichthyosis, X-linked  'O*$,o cnCardiofaciocutaneous syndrome 2Qfq!b a uWaardenburg syndrome, type 2F { L !O,d]) (| C'Hurler-Scheie syndrome[0ku{,o Z 6 A m%,0G nNephrotic syndrome, type 19]a%\1,1Q Wiedemann-Rautenstrauch syndromel(/3<?EPW[fq1FPYm s ,[<) *k  Z   t=G)++.uuFw [kCCerebellar ataxia, mental retardation, and dysequilibrium syndrome3 9F & hSJPolymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [())G y"\(4)=*,01j< Ps Deafness, autosomal recessive 68 ,"Supranuclear palsy, progressive, 1$]en9 ]{| 2 | n d":Microcornea, myopic chorioretinal atrophy, and telecanthus f!k tWNeurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus4:C [  ""A ^9Intellectual developmental disorder, autosomal dominant 7>~ ?U[qY kGH  E  l"*p,P,./_ gJQCongenital contractures of the limbs and face, hypotonia, and developmental delay)%W[5n08 -  S Z &.00aJ'Trichorhinophalangeal syndrome, type IIYL/D[mq!>AhMfoz E h Z q v  kqoo!'A'(3)*,/u:u[vFrontofacionasal dysplasia<8Edq |GZu&..X9U(Ulnar hypoplasia with mental retardation  )),Mitochondrial myopathy, infantile, transient , g 8 'h#[#b).e Q%Multiple endocrine neoplasia, type IV 5KMh M Qt vx [ oCiliary dyskinesia, primary, 39 s> 1z V[>Mannose 6-phosphate receptor recognition defect, Lebanese type<Basal laminar drusen ,dn ceMuscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14),y u  '#_+^.u^Xe b%Epilepsy, familial adult myoclonic, 4 89<G X%`,?zPosterior column ataxia# Z*O| )@DAphalangia, partial, with syndactyly and duplication of metatarsaliv  ):. GOtosclerosis 3jm>Microphthalmia, isolated 18!3o Cp7Spinal muscular atrophy, distal, autosomal recessive, 3  u]m e#]#D(Hyperbilirubinemia, conjugated, type III \ w=Epilepsy, early-onset, 3, with or without developmental delay@I & E H P %*C*p,0y ["ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6D )[G ,\%,/Nc[|M qSilver-Russell syndrome 5 E "+4 Cutis laxa, autosomal dominant 1W".]cu{.1> iG jHNeurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetm/49C\X4 Z$Encephalocraniocutaneous lipomatosis }~8qt)<]_T iz%x/^a,)Pituitary hormone deficiency, combined, 4 5GN")*yg Q-Spinocerebellar ataxia, autosomal recessive 8m [ Z ]C0, f/Bardet-Biedl syndrome 56 %q9Jk3YCysteine peptiduria**K'Hyperbilirubinemia, Rotor type, digenic \* p Coffin-Siris syndrome 10fq A]. |q".0| R ]Loeys-Dietz syndrome 3K <AP)3;Sf_bjkou{;<Z ; W Z k EJNP "))*-}0a001%B'7|Ptosis, hereditary congenital 1"VC:Cerebral sclerosis similar to pelizaeus-merzbacher diseaseVMullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly+6~<?[q w]G U  ]ey %#}.~ ICiliary dyskinesia, primary, 5> S > %'u+d,// X_ $,N RRPseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Nd = ,.Rcx k Mulchandani-Bhoj-Conlin syndromeU Ef   Z S.uz qX&Alopecia-mental retardation syndrome 4/6< '!| nB)Mental retardation, autosomal dominant 5753<f!EF SfI Z C  j$<..bIuc/Hemophagocytic lymphohistiocytosis, familial, 1& QZok O V j   E " =.|/|/ [w3Thyrotoxic periodic paralysis, susceptibility to, 2DU9Cq T ,yz{5Niemann-pick disease, type C1  4 C %8C,[7 :+Orthostatic intolerance %/X sAicardi-Goutieres syndrome 8 2 W ,P/K hImmunodeficiency 42   #+c,j,Nw DQ>Gaze palsy, familial horizontal, with progressive scoliosis, 15z )M  "/Nb mO`Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter+)F1(4@i5GX  = 6 q*4.| T'Lymphangiectasia, pulmonary, congenital<y(F)/0Pw1 E-Noonan syndrome-like with loose anagen hair 1=Q<QUfq! fIK]_gj{ /j+..|}'@INTUSSUSCEPTION  5O#Citrullinemia, type II, adult-onset suzk .dx|[oMEctodermal dysplasia, hypohidrotic, with hypothyroidism and ciliarydyskinesia @t 2/ bwONeuropathy, hereditary sensory and autonomic, type IX, with developmental delay&7R  7,/Fibrinolytic defect Mental retardation, X-linked 107/?QFj&+..7 IAneurysm, intracranial berry, 2Zu a Auriculocondylar syndrome 27[fmq28e!Y!o#,N.0b4B-CELL MALIGNANCY, LOW-GRADEC lDeafness, autosomal dominant 72h\,QDigeorge syndromeL"Snz~<B[qr5AEs  5\%90uK]dk|Qo3  C Z U ;nj  *+d-[1NNb|I gWhite-Sutton syndromeXQ)/3<BQ[dfq!AFad f_kw } 8 P U 6   !,(.cl j%Periventricular nodular heterotopia 79 47<[!@]IN |  'qS"$%D)).0NQ~W` n2Mitochondrial complex I deficiency, nuclear type 8 4-g 8%.by='Fanconi anemia, complementation group C*QUVhEm8/[]QSThou &1&2&&,.Ni. *Enuresis, nocturnal, 2); 7<Deafness, autosomal dominant 16h!L 0Pulmonary atresia with intact ventricular septumG* o=Brain abnormalities, neurodegeneration, and dysosteosclerosis4)C7G U %\oX*4*,x eTatton-Brown-Rahman syndrome'Lb7<>Ea ]_uG E Z ZL<)*3+bwErythrocytosis, familial, 2>jkl, 7 ; Q %,0Zl X3Chromosome 17p13.3, telomeric, duplication syndrome' h$<$%T%&K'A*./0a0bN\&Erythrocyte lactate transporter defect ~##< b1"Pontocerebellar hypoplasia, type 83fq!5> )@CDk]w = H Z  Ll"*4.1NM|`[ rz'Thrombocytopenia, autosomal dominant, 7 Q .^._.sj^6Keratosis follicularis, dwarfism, and cerebral atrophy 1  Y n%Periventricular nodular heterotopia 8 ~ t'Yoon-Bellen neurodevelopmental syndrome Rmi GU Z  %:+,P0xOA kHyperparathyroidism 4 | \ p8Hemolytic anemia due to glutathione reductase deficiency X[ 1-Spondyloepimetaphyseal dysplasia, Shohat typef7I Z [ g z  / !!"&bwPfeiffer syndrome/<GJ  t |X'G,([X*Cutis laxa, autosomal recessive, type IIIA6<q!Y<@C^f  & [ U Z  mI))+6(]Hemifacial spasm, familial*Le P{5Cone-Rod synaptic disorder, congenital nonprogressive'e0Z QNephrotic syndrome, type 3 ]ad  %\,L (4Myelocytic leukemia-like syndrome, familial, chronicc ^'Fanconi anemia, complementation group G 8QSou / W e+Growth hormone deficiency, isolated partial8 "0TDentin dysplasia, type I, with microdontia and misshapen teeth n@Mitochondrial complex V (ATP synthase) deficiency nuclear type 5,l] 8 'B,.| vKOrofaciodigital syndrome XIX* <Q\qzF&r !$&'G+./[mHemochromatosis, neonatalrstw|d | ^+ sTNeurodevelopmental disorder with motor and speech delay and behavioral abnormalities9X &NMx|LHypertrichosis terminalis, generalized, with or without gingival hyperplasia &2 =>Mental retardation, X-linked, syndromic, Chudley-Schwartz type/< & Z "&fL wPremature ovarian failure 21e  (((,q C)Spastic paraplegia 19, autosomal dominant C v  ],, )n!Chromosome 2q37 deletion syndrome.7EF5' 8 Qm&K'A-..//lFtGnathodiaphyseal dysplasia c %W V)Chromosome 15q13.3 microdeletion syndrome<y0 &qr*pw~)Achalasia-Addisonianism-Alacrima syndrome N,C %\Z C&,,0,q p!Myopathy, congenital, with tremor[[~ Z z ku|Agammaglobulinemia, X-linked( mzpSo> O "  %'Pg*+d,.xlB^.Anemia, dyserythropoietic congenital, type III*0Nc[? qDeafness, autosomal dominant 75w,: n Oocyte maturation defect 5 ,k2DCerebellar ataxia, mental retardation, and dysequilibrium syndrome 1! )C X = [  `&&|h,Growth hormone deficiency, isolated, type IA \  zvr]>Split-Hand/foot malformation 1 with sensorineural hearing loss / Z vMNeurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia ]fk-]Z`G ""o iGRetinal dystrophy and iris coloboma with or without congenital cataractdQ,U P4Retinal cone dystrophy 3B !$?e> /"Broad terminal phalanges, familial&l' b&Ectodermal dysplasia 9, hair/nail type1>  1}g& nJoubert syndrome 35 ~q ( s )'.x(5]Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia> i  %M++d,//Nhz$}}}}qO pMegabladder, congenital ]_koo*-]Cowchock syndromem, ^ x >Z"#]c[G _/Delayed sleep phase disorder, susceptibility tozz@ wBSpermatogenic failure 83 ,/< jSpermatogenic failure 16 ,/2El/Spondylometaphyseal dysplasia, Sedaghatian type*fnw ._'T a g 5 l / P"R"^"$&K'A'-2z8p ECTRODACTYLY-POLYDACTYLY/ \Warsaw breakage syndromeTUmzL  ]d qS!"Cv"EPILEPSY-TELANGIECTASIA _ EImmunodeficiency 67   K*,.?NBB ^=Cortical dysplasia, complex, with other brain malformations 1; = "&(~HAIRY EARS, Y-LINKEDV8 YQuestion mark ears, isolatedluFL \hLymphatic malformation 3 - %,,2x0Faciodigitogenital syndrome, autosomal recessive%1<E]fm} 0 | q!g0a U wRLeukoencephalopathy with vanishing white matter 3, with or without ovarian failure e 0 ,0YL&$Hemangioma-Thrombocytopenia syndromeQiC vNephrotic syndrome, type 26ad,1,/ ^;Multiple congenital anomalies-hypotonia-seizures syndrome 19"ILn~<UW[fqz 9@C_kM ) 3 | &~~J >pBirdshot chorioretinopathy *- /[7 hWThyroid cancer, nonmedullary, 5Q!Nystagmus 6, congenital, X-linked 6 a Meconium ileus $1R _4Nephrotic syndrome, type 6 ]ad %1# s;ANeurodevelopmental disorder with seizures and gingival overgrowthFG H"+,vxIMeckel syndrome, type 7\t_kr& 5F ]P*Hirschsprung disease, susceptibility to, 4 3"Myasthenic syndrome, congenital, 5U L- Z ~  < K l s  %j"v ])Bile acid synthesis defect, congenital, 3rw~ X S'./S24||bEGriscelli syndrome, type 1 +f8 Teebi hypertelorism syndrome 1'"1<W[]F-]_) 8 | XZs+Nib we s%Diarrhea 12, with microvillus atrophy > X,. eKEpileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta14@U '"0y \ B0,Myopathy, distal, with anterior tibial onset ~ %^u, uvNeurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophyW ,*4,PbJ LG _CDeafness, autosomal dominant 33h%\, w@CDevelopmental and epileptic encephalopathy 31B, autosomal recessive*Uq} 8CGy u  l*8,P.001Nu`wxzy1 i4GSpastic paraplegia and psychomotor retardation with or without seizures!, 4  KX H Z z0G 8CEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3=,6FHLQhn~GmEel{8_ 8 /  Y !g!&, opFacial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome&)BU[q>aCi G q*3*n+.  lXJSpastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy-;4C H o ' Z e %'\X,P,0bX9Hemolytic uremic syndrome, atypical, susceptibility to, 16Q M  B (-8 Cataract, crystalline aculeiform^Z6Cervical hypertrichosis with underlying kyphoscoliosis .. (!Epiphyseal dysplasia, multiple, 2iX ` S&L)V)Y*,.0ZbxwV q5Mitochondrial complex III deficiency, nuclear type 109=,]g~Qg C 8 !"-? ,'Polyposis syndrome, hereditary mixed, 1A Z5Giacheti syndromeb\Y0)wz tStuve-Wiedemann syndrome 2cQ,2 Z W,,0aPPolydactyly, preaxial II &1%&'RK rImmunodeficiency 77 >  n!+fz<~2+ h= Cataract 44< G<Witkop syndrome > .@ f*Immunodeficiency 27B ", ,  STAR syndrome+BHL}~Qq-Sf_ow qTi!&3&)*.v n2Mitochondrial complex I deficiency, nuclear type 9  8'E..D `" Cutis laxa, autosomal dominant 2u ZFj v]6Pseudohypoaldosteronism, type IB2, autosomal recessive P[i 7 V' 5K'Fanconi anemia, complementation group F$LY}880_kQZo* !g&1&2,v4 &*c/ Q '-Deafness, neurosensory, autosomal recessive 2  [jpMuir-Torre syndrome o  ?fsz%/Vv_ t7Epilepsy, idiopathic generalized, susceptibility to, 18~  lSpecific granule deficiency 2"fqy<QSot / 1N~~F= !Pneumothorax, primary spontaneous<s s Dystonia 304 & 4  %,,/||f wfNeurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures%7\U & 8 E P |  j.{|\ Ku,Corneal dystrophy, posterior polymorphous, 33k &/_ Iw'Asperger syndrome, susceptibility to, 2 %?gGigantiform cementoma, familial#0([)Leber optic atrophy<@Xr4~ ~X-FHYPERLEUCINE-ISOLEUCINEMIA"8 T Atrial fibrillation, familial, 5*F|"Fructose and galactose intolerance7U. wbNeurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities/<ET^q!,)SV  G 0 '&H&*p,P,0x< XGPrekallikrein deficiencyd=C?vAlzheimer disease 2 w _ s;Blepharophimosis-impaired intellectual development syndromeE /B&<Bfq>E%M[fik   Z qj&))./N0P|E o!Deafness, autosomal recessive 100J c m/Erythrokeratodermia variabilis et progressiva 5 k;  , o@Developmental delay with or without dysmorphic facies and autismO.LYk~<?B[fmqFLY(@]kw,GHNt [ Z |qM"3*n+,.v4|A Ri/Surfactant metabolism dysfunction, pulmonary, 3.28 S ; > 6u01bWb[c.c/c0c2|0qkCHirschsprung disease with polydactyly, renal agenesis, and deafnessz<m o4YNeurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia/3#@  |i u 1Epidermolysis bullosa, junctional 4, intermediate   % tLoeys-Dietz syndrome 68b <)fo<  ; Z  P ")*9*,,./~/0a0i01! d/AMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)4/y>4MgS Gg o Z ^ 8  )j+p,P-.. YlBDystonia, dopa-responsive, due to sepiapterin reductase deficiency49 7 8 ; i")9[] .lASuperior transverse scapular ligament, calcification of, familial./'Hyperphenylalaninemia, BH4-deficient, B 49 (  ';.[ _"Chromosome 15q25 deletion syndrome"<fq]s  ]j*4-yS jFMyopathy, distal, 5  ( ~ %]m"#]vo Atherosclerosis susceptibilityzk T c Albinism, oculocutaneous, type V 5Ae!328 6 Deafness, autosomal recessive 14J&Hemolytic anemia, congenital, X-linkedV |kt0Neuronopathy, distal hereditary motor, type VIIA9DE K%]m&fuN vwWolman disease   )y8Fundus albipunctatus/ w3MC syndrome 306U<myE( .uIu1Orofacial cleft 1 @ eHypotrichosis 13 R+q;VCamptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases<Wb n \ 95%(0ar+|RAplasia of extensor muscles of fingers, unilateral, with generalizedpolyneuropathy  b 8Branched-chain keto acid dehydrogenase kinase deficiency4~%^4CK  H  lj*p+s+++,. o;Intellectual developmental disorder, autosomal recessive 70<  E jbJ:AURICULOOSTEODYSPLASIAi &"Leber congenital amaurosis, type I3DejK  0;ֶBranchiootic syndrome 2my s w.Developmental and epileptic encephalopathy 112  IU H 'j++,0NNx @ pPremature ovarian failure 16   (=S'Hypertension and brachydactyly syndrome6&K'A)Sb r6Vitreoretinopathy with phalangeal epiphyseal dysplasia 8"/K FPeeling skin syndrome 4  bu-Charcot-Marie-Tooth disease, axonal, type 2A1 x 0 2 4 7 8 g  ]jm#C&f)sLSyringomyelia, isolated  [ Z D I j/xqArima syndrome.Z\]glq&,7j6 (rsu&o.  = s *p1>SL/Hyperbilirubinemia, familial transient neonatal?'7+Aprosencephaly syndrome d$ a*Spastic paraplegia 53, autosomal recessive4Cfy  , qBCataract 1, multiple types k)8:Cri-Du-Chat syndromeE/M47<BDPmqy!'0 Z ="#'A)!)**qw nC I9Cardiomyopathy, dilated, 1Ocl |Arthrogryposis, distal, type 3$D[Z^,5 Z z p 4&K): UJLarsen syndrome2<mJf]_ Z +Np 'A)+.0P NQEctodermal dysplasia, sensorineural hearing loss, and distinctive facial features/B[emh $.uj j"Heterotaxy, visceral, 8, autosomal]s # G---;-U.|Z NPitt-Hopkins like syndrome 1 #@U - 1 P C j1}.8 mElliptocytosis-3]av A"Camurati-engelmann disease, type 27,bu S 0 j-Microcephaly 17, primary, autosomal recessiveh&<T)CG = &*n,004 eiWhite sponge nevus 2bI ZI?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15,l ^ ~ ? %:u ]60Spondylocostal dysostosis 4, autosomal recessive 7s+ Z y ^ -(Bd<vrvs~U~V/ xvHoxha-Aliu syndromeCL~&3EUfqz!_  59 U Z qIQ`*$<%&&&'?'A,-[ ^Hermansky-Pudlak syndrome 6% mePS/ /   .^2uxizmNEIchthyosis with alopecia, eclabion, ectropion, and mental retardation<k E#Osteopetrosis, autosomal dominant 1 T | LJ* YC R#Mitral valve prolapse, myxomatous 3bui j-Epileptic encephalopathy, early infantile, 45  H  ` n T*Corticosteroid-binding globulin deficiency 6o 7 T 0L0Zc>[sH +Cone-Rod dystrophy 5 $'[`e,M t_!Deafness, autosomal recessive 119 ,l ][(Muscular dystrophy, limb-girdle, type 2Q [ z ? ^u, rJoubert syndrome 37%6~<fq8 (@f s z o",bbv@Xeroderma pigmentosum, group Cem o S,/b'B ]*Cataract, autosomal recessive congenital 4 LMParoxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy DI %'*a,bf f,'Lipodystrophy, familial partial, type 636W,u z  / ~ u#,1Perry syndrome*49U -a 8 ^7{eb J&Alzheimer disease 9, susceptibility to H 2 B:@ pSpermatogenic failure 41 //2Q= !Ichthyosis-Cheek-Eyebrow syndrome% vBrachydactyly, type A6'- h $$%&K&sL X(Colorectal cancer, susceptibility to, 10 </R B ASpecific language impairment 1 O0'Edema, familial idiopathic, prepubertalw3Alport syndrome, X-linkedS]d{!6=vQ [\rd,uR T[:"Episodic muscle weakness, X-linked,R ]8Long QT syndrome 2 my @,dl3 gImmunodeficiency 39 , qLGrowth hormone insensitivity with immune dysregulation 2, autosomal dominant 7 0 "v&0 w? Congenital myopathy 22A, classic@[ Z 'KLW~[- ' 7 Z  ? gjkt<#".0ZNMvoxOo2Atelosteogenesis, type II[<)- T Z z l q Y p&b.vpR,Thrombocytopenia 1 q 2Adamantinoma of long bones hB 1&Torsion dystonia with onset in infancy zvon Hippel-Lindau syndromeh6m  j l NB%%%,vyH v4Spermatogenic failure 76 ,/./q7Molybdenum cofactor deficiency, complementation group A,%<W$; G{ t ^ |  w ;\"*+X.&....0 p;Intellectual developmental disorder, autosomal recessive 72Wfq j*p.92 2 2 @ ]V Deafness, autosomal recessive 74m jz.Congenital disorder of glycosylation, type IAAm HU Z p"1`kKSpinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant u ]e"#"#V)j,. | heRKlippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphismUW[q [fr ~"g g7Autoimmune interstitial lung, joint, and kidney diseaseY+. !+,11 ):Spondyloepiphyseal dysplasia with atlantoaxial instabilityDf _ > z  V j#!)#,[7Arrhythmogenic right ventricular dysplasia, familial, 1m%-v W*Chromosome 10q22.3-q23.2 deletion syndrome<?QF *o1 h-Microcephaly 16, primary, autosomal recessiveT[   &,NiSp/Dyskeratosis, hereditary benign intraepitheliale b/ *\Chondrocalcinosis 1 U ^!Cortical malformations, occipital <N 1%a?5Spermatogenic failure, X-linked, 8, susceptibility to ,2A0mEMyasthenia, congenital, refractory to acetylcholinesterase inhibitors  u"u n:9Pulmonary alveolar proteinosis with hypogammaglobulinemia - u,E l!Deafness, autosomal recessive 108d !O} h-Epileptic encephalopathy, early infantile, 34 U H  lXN u<2Hypoalphalipoproteinemia, primary, 2, intermediate |7M ^-!Acetyl-CoA carboxylase deficiencyg ~[.E vTooth agenesis, selective, 10Uq3 #V##),UEpidermolysis bullosa with congenital localized absence of skin anddeformity of nails   *Mental retardation, X-linked, syndromic 14b/GK) Z '+,&,0 M1Spastic paraplegia, optic atrophy, and neuropathy[ Z > n  \mZ,,g \0Cardiomyopathy, dilated, 1Rcl %,,wzVzWzaW Q?Cataract 11, multiple types 8j# ,8Metachromatic leukodystrophy due to saposin B deficiency,C  C H j &f+X,z P5*Spastic paraplegia 30, autosomal recessiveC   ]*,} d-Anemia, congenital dyserythropoietic, type Ibo_*, /d7Kifafa seizure disorder\l(Facioscapulohumeral muscular dystrophy 2 m k# #C)*w2wEsophageal cancer, somatic,< mDiamond-Blackfan anemia-like 0z2W g7Long QT syndrome 14 y '@,/2{) - Wilms tumor 5 k@ uDystonia 35, childhood-onset4 d e0Cholestasis, progressive familial intrahepatic 4 rwz~ '\H<0Spinocerebellar atrophy with pupillary paralysis_@ Mental retardation, X-linked 105@ wb:Nemaline myopathy 5B, autosomal recessive, childhood-onset Z ?  uzU~UWu hRing chromosome 14 syndrome <qDE U P  ] f,Charcot-Marie-Tooth disease, axonal, type 2S Z x 0 %]u#C,/0JUridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to V X %'9,[pM ) Rippling muscle disease 1  ~#F&Hypertrichosis, congenital generalized Zs m/Spondyloepimetaphyseal dysplasia, DI Rocco type   "n v 2Bone marrow failure and diabetes mellitus syndrome T %'Gb+3hMolar I reinclusion/qxޡ(Muscular dystrophy, limb-girdle, type 2B %]u#A#V,0Z\ _9$Bleeding disorder, platelet-type, 11   ._.azq J-Pyruvate dehydrogenase phosphatase deficiency   p 8'.MRMacular dystrophy, corneal, 1ek%Jl,DYSOSTEOSCLEROSIS.7[mjou H c 4 6 P)!+vp;x{0Chondrodysplasia punctata, Tibia-Metacarpal type  Yh&b'6'9'<).w ]+Congenital heart defects, multiple types, 6]djG(.}\.PXLip, hamartomatous)Fx g0Hypomagnesemia, seizures, and mental retardation@ e ,cdlZQ-Acrokeratoderma, hereditary papulotranslucent0i b c: xVNeurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism5/3<TUqf U Z '|"&%+,/0eu|` w[>Hypotrichosis 8  ,_bL ^YCyanosis, transient neonatalo /W hz$Cerebrooculofacioskeletal syndrome 3[q8).G {:vTetramelic monodactyly/ v^BIntellectual developmental disorder, X-linked syndromic, Lubs typeC/)qF1@ IU  8 H \qMm":""*4*p,P..0bz|} otINeurodevelopmental disorder with central and peripheral motor dysfunction%<[n8C - S '.|8 K Narcolepsy 3  ub1_lMacrodactyly, somatic . f{Mirror movements 37^ ^.Cutis laxa, neonatal, with marfanoid phenotype[1 w;ECervical vertebrae, agenesis of! p+THemoglobin-Variants for which the chain carrying the mutation isunknown or uncertainV%Multiple pterygium syndrome, X-linked<[qs[]) c 2$Glycogen storage disease Ib ]ai'67ZzSe ^  8 /|[I: TOtosclerosis 7jm,k c'Immunodeficiency 56rw> C+d,Nu e J5Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiencyDfVC vShort QT syndrome 7m%,/G V(Cardiomyopathy, dilated, 2Acl,zVzW I@Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire typea [ z e i l /  "Z")V)Y0PD gParkinson disease 219|] Y'Cerebral creatine deficiency syndrome 2 89@C  E H Q  "*C*p,P/Ea[d[R[lz :UCraniosynostosis 2!YcS U +=,3,6,B>TVohwinkel syndromem$)&/,O¸'Aplasia of lacrimal and salivary glandsD4X,Triphalangeal thumbs with brachyectrodactyly/ %@O AXEpisodic ataxia, type 4 hiS b w,Developmental delay with or without epilepsy I E P X [  j*C*Y,.07Callosities, hereditary painful vq.Developmental and epileptic encephalopathy 109 8C. & "*C*p+,P,,.dRK [sFactor XIIIB deficiency d  .lz*GX+Cutis verticis gyrata and mental deficiency)-4 c}Myofibromatosis, infantile 2Nn _*Mental retardation, autosomal recessive 27 @ .k ]vRetinitis pigmentosa 27&jm 9,qq u=Keratoderma-ichthyosis-deafness syndrome, autosomal recessive   $y> x"Lisch epithelial corneal dystrophy,:hlDk phocomelia syndromewQ$&e,Trigeminal neuralgia5^ _*Amyotrophic lateral sclerosis 16, juvenile C ]#-,G lPolydactyly, postaxial, type A7& `M&Canavan diseasemj H  X*Y+Y0a~~Y[6QCorneal dystrophy, band-shaped v>FNeurodevelopmental disorder with eye movement abnormalities and ataxia548_ '))/.Q PB%Diarrhea 4, malabsorptive, congenital'6>&Retinitis pigmentosa, late-adult onsetH aImmunodeficiency 31A  %M, ,0NvS<+Dentinogenesis imperfecta, shields type III#%BMulibrey nanism+ <EDdkTUchG k x    sQNeurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia! <qP4   H e&)'.CW'Coronary artery dissection, spontaneous./| fm0Combined oxidative phosphorylation deficiency 22c,  #..aAOvalocytosis, hereditary hemolytic, with defective erythropoiesisV]* qL#Nabais Sa-de Vries syndrome, type 1&L&3?Uma S |q&&,,|lN `V*Thrombophilia due to thrombomodulin defect A tVGlycerol kinase deficiency&<qNgk ~ %,mn= _ t*Joubert syndrome 39q,(% sm#cwjxFCataract, posterior polar, 1 ctpa cataract, congenital total, included![sL Z$Epilepsy, idiopathic generalized, 10IK E --GCervical ribs, sprengel anomaly, anal atresia, and urethral obstructionYn{ (!R Z&Corneal dystrophy, posterior amorphousdk `&PN Spastic paraparesis and deafnessm9 %L ^\ Atrial fibrillation, familial, 9 @>H"Grouped pigmentation of the macula0w uyCardiomyopathy, dilated, 2G>lqu{ <--1zuz?zVze{G+Deoxyribose-5-Phosphate aldolase deficiency0[Y ^8%IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2 ]{6 U c!Left ventricular noncompaction 10 cl,,w.aHoloprosencephaly 3~nY_PG&&.2AH=$Immune deficiency, familial variable  pnNeurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies E[mC[G p-0u`'DYSTELEPHALANGY rp=Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2P" ]f ),a TpRenal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive faciesY]G Z o,0xczlaHHypoadrenocorticism, familial CNZ8i V" dJoubert syndrome 21#k<7$%).8 = > o{&+e.Zl.Pseudohermaphroditism, male, with gynecomastia%5"T1,Thyroid hormonogenesis, genetic defect in, 55U  !Heterotaxy, visceral, 1, X-linked7Uhi<q)^]_hjksw2 j # ('(A--(---.U02Zztc|Tuberous sclerosis-1&k5:0 Htj&%R%x%z%%%%%%%%&&)w* +Y01 X# gW Cataract 43kGM1-gangliosidosis, type III48CFG Z 5 CO ),~ u2Cholestasis, progressive familial intrahepatic, 12]t X \ =/||2Mandibuloacral dysplasia1%@[?J~.[k< N U q   4%3P"#&o&,0aN UC ]Retinitis pigmentosa 45`9:LAntley-Bixler syndrome with genital anomalies and disordered steroidogenesisJ )./06>BU<q6NS 2AW.i  Z t V y R  ) !%%,.0aNc\cyyy9BFRing dermoid of corneacd f ENiemann-pick disease, type BOQo.k E  %,,x x4Epidermolytic hyperkeratosis 2B, autosomal recessive  *7bbz8Z (Lowry-Maclean syndrome S[s#T PMartsolf syndrome 1E,6&BGW[fq8#fcf'0Gry z 5Lo !"&K'A)*p,$,Pbx|^X K$/Combined oxidative phosphorylation deficiency 11Ctg G ` "....0 pUNeurodevelopmental disorder with microcephaly, cortical malformations, and spasticity;C GN =  *p0bf ]0Multisystemic smooth muscle dysfunction syndrome6_k,  9 ?P,1xz~ nNDevelopmental delay, intellectual disability, obesity, and dysmorphic features'7<BW[\>Ffi | qj"/&.0f@-,Arthrogryposis - hyperkeratosis, lethal form b[Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 y\%- qQNeurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia36 3Q[\ A'MQ 1 S Z |j* ,O,P00001N^|u w Amyotrophic lateral sclerosis 28#, L >  r*{dnJ +&Laterality defects, autosomal dominantxs k;Intellectual developmental disorder, autosomal recessive 60 7   aSR3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 4@g H 8  .0 c<AMitochondrial complex V (atp synthase) deficiency, nuclear type 4 ))8 .cV_Hyperoxaluria, primary, type II Sy W !,/D[[ pOIntellectual developmental disorder with hypotonia and behavioral abnormalities!  ]dw j",Bq rJEMicrocornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 x -:Hypotrichosis, congenital, with juvenile macular dystrophy`j=  RNJ,,w{(~ hC > k#Uncombable hair syndrome 2^ uh? ZSpermatogenic failure 7 ,//; /U'Diabetes mellitus, insulin-dependent, 63 Y{Faciocardiomelic syndromeW[A "(* -- @ c`Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2,a S ~ go1 Ackerman syndrome! _?4Hyperphosphatasia with mental retardation syndrome 3)<},@_I E Z S |   *4*p0 gUMyasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency!Z'[K- L Z < ? K  '"#%)',0bvvvoSchneckenbecken dysplasia!r l | !"&b,.y2H E$Keratosis palmoplantaris striata III;=, k 0Combined oxidative phosphorylation deficiency 31[gg 8   ../w2%Heinz body anemiasNr c4Charcot-Marie-Tooth disease, dominant intermediate F x 0 7 n z %]""#]+X,_ q Joubert syndrome 36 s +2Phenformin 4-hydroxylation 89Elsahy-Waters syndrome>/0!/3<DGQUWfq>( # U!&%):*n+=+G..1NQ[hY 6!Medullary cystic kidney disease 2 \l%e!6Stocco dos santos X-linked mental retardation syndrome<@ Z  wy uSpinocerebellar ataxia 49C >  %dny g-Epileptic encephalopathy, early infantile, 3289@ E *`, \Weismann-Netter syndrome  Z i p ))*rpBDistichiasis with congenital anomalies of the heart and peripheral]k ;V&).Craniodiaphyseal dysplasia, autosomal dominant/<m=E S ] \X+p,; o Cataract 48Ah / Adenylosuccinase deficiency,?Wq1 8D  | e  'o,P[Pv Renal tubular acidosis, proximalf @ 6Cone-rod dystrophy 7$',/ G V'Cardiomyopathy, dilated, 1Zclm ,a:<-Hypocalciuric hypercalcemia, familial, type I Kf Q f 7T >'$Bleeding disorder, platelet-type, 12  EIsolated growth hormone deficiency, type III, with agammaglobulinemia m78* O  C.?v,K q1Ciliary dyskinesia, primary, 45> // [) Beta-ureidopropionase deficiency0'4Ugw Z  #[[Q[R[[[[8 n=Cortical dysplasia, complex, with other brain malformations 9!)@C) 1 =  l*C*n*p,P00h k(Ectodermal dysplasia 13, Hair/tooth type &<0C p'Pancreatic cancer, susceptibility to, 5 -E@GCerebellar hypoplasia/atrophy, epilepsy, and global developmental delay )9 ZMucopolysaccharidosis, type II5 m=[Icv3o % 6  %% m)',,xOk+Spinal muscular atrophy, distal, X-linked 3  x u%]me rCGlobal developmental delay with speech and behavioral abnormalitiesE[m:f 8 j*n d{Schaaf-Yang syndrome66 /Uq!5>'@[L.  Z  ')'./0a1u|f w@Plasmin inhibitor deficiency/wf-"Spermatogenic failure, X-linked, 6   ,//01n hBethlem myopathy 23 ,[ Z ~ ku#VNc;|c jCiliary dyskinesia, primary, 35 > S'+ez {M qArthrogryposis, distal, type 5*E3EZ_+ Z ;  A4(kt&u~V5PLipoma of the conjunctiva/1A sfAngioedema, hereditary, 7v.z 9lHartnup disorderCSj *B,[ q*Spastic paraplegia 81, autosomal recessiveC 'J,2)x`%* Wilms tumor 3 k] m*Spinocerebellar ataxia 46  c > ]C R'Fanconi anemia, complementation group NUVz}<8]_{ k E "&1&2 tOCholestasis, progressive familial intrahepatic, 7, with or without hearing lossmst U S %',24||A xf0Combined oxidative phosphorylation deficiency 59"9cg8g H p  'j ,..1z1114JBerry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification rw1uFOAnemia, sideroblastic, X-linked*,c>= sLymphatic malformation 11%),\ \v$Immunodeficiency, common variable, 4  "  +d.?B? wLCombined low LDL and fibrinogen .||T p2(Trichothiodystrophy 7, nonphotosensitive7Nf22Myoclonic epilepsy, juvenile, susceptibility to, 1 IU%X.xHdGreenberg skeletal dysplasiaS<GP[\qnz&[)5 pT{ !"+"2"""$%&K'A))***,..1wxc5Skin creases, congenital symmetric circumferential, 1#<W[fq8EFu p0P1`v ^c.Dyskeratosis congenita, autosomal recessive, 2rQT % G j Deafness, autosomal dominant 66 ,,Clouston syndromee<t  H nfSpermatogenic failure 28 (",..| >4Parkinson disease 6, autosomal recessive early-onset 4C|  ]@ Tibial torsion, bilateral medial Z VK wRetinitis pigmentosa 97 `A%,M a!Peroxisome biogenesis disorder 7B,'. TRITANOPIA'( S` o$Bleeding disorder, platelet-type, 22 Q ,.^._.qur v&Lacrimoauriculodentodigital syndrome-2mz 4D!g&:`ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 34[!"&-8MQ ),8GN . 1 = z y\:OZ%m*p,P.C `UV-sensitive syndrome 3  ] =Acanthosis nigricans with muscle cramps and acral enlargementW BlF Klippel-Trenaunay-Weber syndromeOS$J%16Spondylometaepiphyseal dysplasia, short Limb-Hand typeA<W[70+ Z [ 5 | D Vy"#$&K&&'A)+p.u[w q-gNeurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation"L&q>@AV  u S M]&*8+,P,0` ]LHyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome]g3VQTZo,-eg > V e B  oY.1N qyLissencephaly 10I 1 E Pf"=*Cv{e|~` a8Hypogonadotropic hypogonadism 16 with or without anosmia679 "dlvv~ EDIchthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis stw<'by e DSpinocerebellar ataxia 189 > jH,S tImmunodeficiency 95 `2 > b[}~)z I>Ciliary dyskinesia, primary, 3, with or without situs inversus > S '+d/ r sQ"Dysostosis multiplex, Ain-Naz type Z 2 y l  . `"Chromosome 16q22 deletion syndrome#/<[\fqEFi Uo"'G1 f2Bardet-Biedl syndrome 9S"Z&   9(4Musk, inability to smelljpMEhlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality )fb6 ]HMicrophthalmia, isolated 78 YBHPolyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract C x %]m,, r84Mitochondrial complex IV deficiency, nuclear type 20Dh,g ^    pIDNeurodevelopmental disorder with ataxia, hypotonia, and microcephaly!&57U M"&2'9'<'?+,_,i-g/a c%Paroxysmal nocturnal hemoglobinuria 2 V.  0Zn*Ehlers-danlos syndrome, Hypermobility type ),]fb [O ['Corneal dystrophy, fuchs endothelial, 6k,// a-Immunodeficiency-110 with lymphoproliferation-wS`b>  %M+c+d,/Nh}} k udQNeurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures(    ,.`+ rw+Mandibuloacral dysplasia progeroid syndrome<]aBEW[\Js [k{Tuw<k x ) ^ </ "#h&+(,)O,y/IChorea, benign familial u3Tessadori-van Haaften neurodevelopmental syndrome 3v5&/?BEmq>Fu}:4CDf   8 Z 6  `jG""&&(8* *}+,P./0001'1cuc{{f+7 ^Hyperalphalipoproteinemia 2 /y/ t9Leukoencephalopathy, hereditary diffuse, with spheroids 24 0 *w/0Yxz~9 bCowden syndrome 4 %)F2,) WOHemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy  V j  jB$Sertoli cell-only syndromej E&Hypereosinophilic syndrome, idiopathic XA HQ 6)Hypercholesterolemia, autosomal recessivek = 4 *z5 dSchwannomatosis 2 (>5 (Exostoses, multiple, type III H!Chondrodysplasia, Blomstrand type[V i "2w=Brain small vessel disease 1 with or without ocular anomalies3!8=Ancp4>VT\ 0  )&),,,0}.wC Gv#Zinc deficiency, transient neonatal<|W&Toe, misshapen8 e^Oocyte maturation defect ,[| sJ0Cataracts, spastic paraparesis, and speech delayI  "++0| j]Mirage syndrome, /1/CNk.QZ`oiz Z / V '~")6)=.v4] O%Corneal dystrophy, congenital stromal ek', T A*Dyskinesia, familial, with facial myokymia=48Ccl   %"b|4= ]!Inosine triphosphatase deficiency[~[><Ichthyosis hystrix gravior aJ \Microphthalmia, isolated 68t!3xgA b !Deafness, autosomal recessive 84B EB !Kaposi sarcoma, susceptibility to hvR [u&Glomerulosclerosis, focal segmental, 5]a6 [ IdSymphalangism, distal SC u*Spastic paraplegia 87, autosomal recessive4C  [ z  J, x|:Immunodeficiency 117, mycobacteriosis, autosomal recessive#QZo*    , NvNwv~~~EqC CC)f*Hypothyroidism, congenital, nongoitrous, 8 e 4 j. |36 J5Spondylometaphyseal dysplasia with cone-rod dystrophy.!$&8LwQlk Z a / B"u""$&'Avyyb W.Microtia, hearing impairment, and cleft palate  !gyQ1Porokeratosis plantaris, palmaris, et disseminata lCSorsby fundus dystrophyjJ,DAdrenoleukodystrophy!m<j"F<  C Q /  \j k rEndove syndrome, Limb-Only type;L~ %i)}).z ]>Megaloblastic anemia due to dihydrofolate reductase deficiency )QTa I u%l+.00b c[ m+-Developmental and epileptic encephalopathy 57K H  'f+Y1c9 jAmyloidosis, familial visceral]dp6t} &faSialuria%<?Wqu7r Z Sbj)'+B,aYProgressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive>5Ne4Rbfu c Z j 0 > j  hitu),vo[ lPolycystic kidney disease 5 iq6 %]o,o:/Hypogonadotropic hypogonadism 7 without anosmia ,6%8"~BOFibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly^ 9 2 vy+\_"$$&'uk w7Neutropenia, severe congenital, 10, autosomal recessive QSo /h0~G b4Mitochondrial complex III deficiency, nuclear type 5_g < ^  -d Bernard-Soulier syndromeQdn ._ sK4Popliteal pterygium syndrome, Bartsocas-Papas type 2 [q8$ &&&  wTOculocerebrocutaneous syndromeD8qx^< wV>Prolactin deficiency, isolatedZ < F) Juvenile myelomonocytic leukemia/b&Hypomandibular faciocranial dysostosis G[L_kX1K S'Isobutyryl-CoA dehydrogenase deficiencylo \ TARP syndrome0U~<[fqo ()w_d.  /!g&11u)Acetylation, slow 5/Hemophagocytic lymphohistiocytosis, familial, 4QSok  ,.|/|k Iz/Neuronopathy, distal hereditary motor, type IIB  ( ) u ]#]&f?,Cenani-Lenz syndactyly syndromeVYh<[j Z y %'G+p*Severe combined immunodeficiency, X-linked *  "  'NPgj#/8 C? Deafness, autosomal recessive 22 8vQRenal tubular acidosis, proximal, with ocular abnormalities and mentalretardationI T.,dl}BB= /|/c>cdnuxx_'/Night blindness, congenital stationary, type 2AA0wL f;Bardet-Biedl syndrome 18 S,G ^C+Amyloidosis, primary localized cutaneous, 20BcMicrocoria, congenital!h c s8Ondontochondrodysplasia 2 with hearing loss and diabetes~:'3 Z  qP&K'12x+h 8~(Muscular dystrophy, limb-girdle, type 2E l %k{#E /Trimethylaminuria 6qSo oECancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma  < , cP % nBone marrow failure syndrome 5o  ' /e0zzv e*Spastic paraplegia 63, autosomal recessiveCy 0w| sANeurodevelopmental disorder with seizures and brain abnormalities:@ ',*4*n.0c=cdc|S v/Hydrocephalus, congenital, 5, susceptibility to j *+ Tetraamelia, autosomal recessive*Dh[q8y) !"&,- j5!Hypermanganesemia with dystonia 2-R49@CD   ( G H Z 1  \`l",/0wucx}a3Actinic prurigoc Z/Hemophagocytic lymphohistiocytosis, familial, 5Qok   !}+d,/|/ Encephalopathy, acute, infection-induced, susceptibility to, 9" 8C 28 H S T V'\.0(Muscular dystrophy, limb-girdle, type 2C[*+ Z ? %^{ ,W./Spastic paraplegia, optic atrophy, and dementiaml G1Autism, susceptibility to, 3 1 g H, d,Immunodeficiency 12 >  M+c,zBBw:Necrotizing encephalomyelopathy, subacute, of leigh, adultYZ 2 ] WA&+)-<X$Macular degeneration, age-related, 2`6-LThoracomelic dysplasia7"[ (JRetinitis pigmentosa 11 `jm9wq CCinca syndromem*=YXo  '+, w#*Spastic paraplegia 70, autosomal recessive<[qC L Z  ,.| pVStructural brain anomalies with impaired intellectual development and craniosynostosis&D\a Z [],,6/N?&#Salivary gland adenoma, pleomorphicL `2*Hypothyroidism, congenital, nongoitrous, 6<S^IoX  U r1z <;Radioulnar synostosis with amegakaryocytic thrombocytopeniaq{ nq i#Coenzyme Q10 deficiency, primary, 8nm6 ,[)2 ,"+X.0 p;Intellectual developmental disorder, autosomal recessive 716zB](j+Vy mH-Microcephaly 19, primary, autosomal recessiveG \&,P0` E3Charcot-Marie-Tooth disease, demyelinating, type 1F9 x 4 7 g  %mA,-Zinc, elevated plasma \^NHemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency9:, *w..Phenylketonuria{C ~8;^jYA[ l-Epileptic encephalopathy, early infantile, 551@C[fy u  '"*Y.` j HMyotonia, potassium-aggravated, '=(C)4,2ccQ<Cervical vertebral dysplasia.! !Qd)Microphthalmia, isolated, with cataract 18h^ uX*Leukodystrophy, childhood-onset, remitting  o  .. r&Chromosome 13q33-q34 deletion syndrome>/0<BT[\fm8 jk5$)  &o%&%&2*4*p0a1APGBrunner syndrome  uz4fld p Myopathy, distal, 6, adult onset  mu#CNz( vHypotrichosis 15E$)Triphalangeal thumb with double phalanges%6 /Leishmaniasis, tegumentary d;Short-Rib thoracic dysplasia 10 with or without polydactylyZ"(stw7]G ) '1NN= %Pulmonary bullae causing pneumothoraxz DSpinocerebellar ataxia 21#4 x~ \ ']p))/,f_Retinitis pigmentosa 23'emu%*k,ccxiT YPorphyria, acute hepatic V [ I .HK vPolycystic kidney disease 7S6 1)Y bBrachydactyly, type A1, C  |$O$%i&'2 j-Epileptic encephalopathy, early infantile, 425 9C[  1 P  '+ sZIDeafness, cataract, impaired intellectual development, and polyneuropathyBPm &,O,PWFLaurin-Sandrow syndrome +%T) r3Mitochondrial complex II deficiency, nuclear type 4 4C[g E H o u  z"",0r1bbx| ^%=Megalencephalic leukoencephalopathy with subcortical cysts 2AK  G (  ]J$, k4INeurodevelopmental disorder with hypotonia, seizures, and absent language(> 4@ G 1 +.|`4`lQx1DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION   k^Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold#QfqA]oX j*.bk w9 Pulmonary hypoplasia, primary)S'Syndactyly-Polydactyly-Earlobe syndromek-1=O X&#Pontocerebellar hypoplasia, type 2C(4 b!Osteogenesis imperfecta, type XIVmP U Z c  S ' ,wzD(Amelia and terminal transverse hemimelia&c -qiSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Y* CN"*h rKDelpire-Mcneill syndrome @]  !|g bCiliary dyskinesia, primary, 19> u+d///0` iGMitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)"LWg8g  ""#,.1 1iEncephalopathy, ethylmalonic' H 8  hn.[ux oDGastrointestinal ulceration, recurrent, with dysfunctional platelets c  v}? d$Chromosome 15q11.2 deletion syndrome5<?Q[EY M[3  2 1j$,.1u|WX7 ^ESpermatogenic failure 8x x?Basal ganglia calcification, idiopathic, 9, autosomal recessive*q4NW y ) j=X"*,{] 9)Progressive familial heart block, type IB y~----< k;Tooth agenesis, selective, 98N c"Pulmonary hypertension, primary, 2,%\{ Y0Episodic ataxia, type 6;e)FS  v \.Congenital disorder of glycosylation, type IIi m 0 g^(Lethal congenital contracture syndrome 7[ E  41  f3ACTH-independent macronodular adrenal hyperplasia 276 h  .  '.0Z1w eMitchell-Riley syndrome3t   " X  s,.3a`Meniere diseasehm Z pM*Hypothyroidism, congenital, nongoitrous, 7 0Z{:t Retinitis pigmentosa 2, X-linked!D[Km%Q*,,,wA `%Infantile sialic acid storage disease!d Vch  x \  [!Hypermanganesemia with dystonia 149rm| ^ 0b Zbl}a_ /7Arrhythmogenic right ventricular dysplasia, familial, 4 D -7 Y$Deafness, autosomal dominant 2B )+(Spastic paraplegia 6, autosomal dominant 9C vy  \d$PHEOCHROMOCYTOMA]kG>cq h j  D7Frontotemporal lobar degeneration with TDP43 inclusionsHa{ 2 M ,":vOYw jJoubert syndrome 28<QD f [ s ,7 L Syncope, familial vasovagal P W Diabetes mellitus, ketosis-prone3W > oIDiamond-Blackfan anemia 20o("g/eA%Von willebrand disease, X-linked formd K h*Joubert syndrome 23 M8 My( mKNeurodevelopmental disorder with or without seizures and gait abnormalities /Ba'@HU  *]..|XDvErmine phenotype b,dE b!!Deafness, autosomal recessive 18B 2%Richieri-Costa/guion-Almeida syndrome /PUm5Ydq  ]&,!0 oURIDINE-CYTIDINEURIA=>e@%Insulinomatosis and diabetes mellitus 9? %Z ,/NH t$Immunodeficiency 86, mycobacteriosis NvL Z Cardiomyopathy, dilated, 1BBcl. -1z$Brachyolmia type 1, Hobaek type Z  l Z %pO 1o wCiliary dyskinesia, primary, 51> +d,/z ./ q} uI1Cholestasis, progressive familial intrahepatic, 9~  ,k s#Nephronophthisis-like nephropathy 2Sg>A  1~n Gh-Congenital disorder of glycosylation, type Ih'<Wq5tkQo   :,-0a{ pLiang-Wang syndrome<4A IU  ".Chromosome xp11.23-p11.22 duplication syndrome! ?BUf>:IKIr 1 M).1b nSnijders Blok-Campeau syndrome.<qf_jGX Z j+Z+-..01b|`] 5Limb-Mammary syndrome4/t %0a e^Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis7,<+t Z Xv /&Ectodermal dysplasia 4, hair/nail type1<  M ldExudative vitreoretinopathy 7"%t- w W2Birk-Barel mental retardation dysmorphism syndrome4BU "*4.+% Trigger thumb x'Lipodystrophy, familial partial, type 91/q56:?Juk Z )   %IS#,,uc uGANeurodegeneration, childhood-onset, with progressive microcephaly,6%U8CAW Ugy{ E H >   ,,.1` a3#Brown-Vialetto-Van laere syndrome 2< -  G Z \jt)@NMyelolymphatic insufficiencyZ M,_ k'Fanconi anemia, complementation group V QSo n,X n,Growth hormone deficiency, isolated, type IV8 )vyg nFOsteochondrodysplasia, brachydactyly, and overlapping malformed digitsk5< Z z < &.&2&'G'})=[\Speech development, delayed, with facial asymmetry, strabismus, andtransverse earlobe crease DWq0 &< n^Ovarian dysgenesis 6 /% 7vNasal bones, absence of&D G0Autoimmune thyroid disease, susceptibility to, 3&v@.Xeroderma pigmentosum, complementation group Eem o - S pSIchthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features e m9D/ e  bPPlasminogen deficiency, type I{j )G   $D5 Hyperlipoproteinemia, type V3 " /T W$Jervell and Lange-Nielsen syndrome 2my !OG ]Hypomagnesemia 6, renal,  e%,IˊDystonia 3, torsion, X-linked89 g .Spinocerebellar ataxia, autosomal recessive 185C[    G]-Congenital disorder of glycosylation, type Ij [A 9C[-8 ^  r  :q*0F P*Preterm premature rupture of the membranes*,R͘"Megalencephaly with dysmyelinationK b*dp ]h@Acne inversa, familial, 2, with or without dowling-degos disease ,%N+|0"bErythermalgia, primarynI %0,0}H dC*Spastic paraplegia 79, autosomal recessive(!<UC[   ~ L k ' %\*O,|` r \,0u7H AVan der woude syndrome 2 c/Ciliary dyskinesia with defective radial spokes  ////M~1Fibromatosis, gingival, with progressive deafness7 wTHypersulfaturia,1E[p,Ehlers-Danlos syndrome, dermatosparaxis type+[q!P"3f.V'   "&K&b))0 I-Globulin anomaly involving beta (2a)-globulin 8hTooth agenesis, selective, 1,A u)Advance sleep phase syndrome, familial, 4|b W*Crouzon syndrome with acanthosis nigricans <S.3Hypoparathyroidism-retardation-dysmorphism syndrome'6W[fq88G U Y 6 """+0|I w` bUrofacial syndrome 2 LS~% %,~ b*Mental retardation, autosomal recessive 35<QW[\q ]!g&uL0Thyroid hormone plasma membrane transport defectU 7s 87Generalized epilepsy with febrile seizures plus, type 2 IK E*B*C,\98Bronchiectasis with or without elevated sweat chloride 1>u/</; maGlucocorticoid deficiency 5ybk _Immunodeficiency 21S`o{  /M*, 00$dmz}tP4Myoclonic epilepsy associated with ragged-red fibers ,8Kg ~ X  *|x 7d<D[qAP);Sf_bko  8 Z 6 EIP_>#,))0a0xB' _:Short-Rib thoracic dysplasia 5 with or without polydactylyY]c%!+ "(D \ Deafness, autosomal recessive 84m u5Neutropenia, severe congenital, 1, autosomal dominant SXfo  )0 ve-Dyskeratosis congenita, autosomal recessive 8YVT  % *9Kyphomelic dysplasia[\q#`  l 'A)A0P K 3Ataxia, posterior column, with retinitis pigmentosa" &DjXv c Z x]9%*O*w+X,0a1wA|Py&Multiple endocrine neoplasia, type IIB> f Z j 1 ~ 7j= z4 g&Robinow syndrome, autosomal dominant 2,6<W[\mF | | J&&',(.0auo t3Charcot-Marie-Tooth disease, demyelinating, type 1H ` x ""#],Q5Bundle branch block, familial isolated complete rightZ-5Adactylia, unilateral=&0&2B j*Mental retardation, autosomal recessive 561 WInflammatory bowel disease 13 vAtelis syndrome 2+E[q8JDjkQo. mj 1ux -rPApert syndromeU~/<Q\fmq!J%)3KS]G ? g -XZ[t{%'G):)}+,(.0P1^[[&pBEctodermal dysplasia, ectrodactyly, and macular dystrophy syndrome8 J%&3)).0a@&Sudden infant death syndrome=V"Hyperbilirubinemia, shunt, primary  X*/d5JSitosterolemia 1<ZYQdno 4 ^Nc[z:=7 EDeafness, autosomal dominant 52m!~ Coxa vara Uy)Congenital myopathy 5 with cardiomyopathyclm Z ~  'g##V--1zukvoXT W "%)B,b+c[[[3+Hyperlipoproteinemia, type II, and deafnessm<k K 4 Eg f.Bardet-Biedl syndrome 4Mk" (}(Schimmelpenning-Feuerstein-Mims syndrome!U MZ: < o %0R&*?*A+A qUNeurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities"m58gC U S  e"#+,P,11`B:q _Brittle cornea syndrome 2m!3P_f (Q lFraser syndrome 2>Yhz&q8 f  > (B(*0 1au W)Spastic paraplegia 38, autosomal dominantC v @ A b c mK?r+Cerebellar ataxia and neurosensory deafnessH tASpermatogenic failure 58 ,//q wcNeurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalitiesT}@ 0  lM&xd (DPolycystic kidney disease, infantile severe, with tuberous sclerosisqt% uCDevelopmental and epileptic encephalopathy 105 with hypopituitarism6<,@ P  ' 5)*]+0 n0Myasthenic syndrome, congenital, 24, presynapticZ,-8 4.0a|N&Melanocytic nevus syndrome, congenital%7<QWu | *+/cʴAlpha-mannosidosis9&/Q"> C H{ | ]@X\.0= + ^=Okt4 epitope deficiency @|Neutrophilia, hereditary / ~.y/jA o!Deafness, autosomal recessive 113%y1Palmoplantar keratoderma with congenital alopecia<t wc}@Retinitis pigmentosam{u Wg>Cerebroretinal microangiopathy with calcifications and cysts 1/j49Qot 0 o  , Z c ) \sWXS ") dM7Molybdenum cofactor deficiency, complementation group C1 )CKN u ^ ';",P./N ZLymphoproliferative syndrome 1QTZbo %((+,/|//NhXPGLi-Fraumeni syndrome  k m N X/]u~v DDystonia, juvenile-onset\r p"\)9,N|*z4GONADOBLASTOMAZ rOlmsted syndrome 2  bu\rE*Klippel-Feil syndrome, autosomal recessivey]r Z  sEINeurodevelopmental disorder with cerebellar atrophy and motor dysfunctionD  \,0e oY0Combined oxidative phosphorylation deficiency 37(1 )C{g-g ( u > ^  8   \l".x_ eHelsmoortel-van der Aa syndromeu i<?KWfqzFq18@f[_bu<G{ u  Z ) |  %'q,j&'G(8()!))++,?..0111uw w; iNephrotic syndrome, type 13a1, o{MShort stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis&/47[mf Z q ) Y p&L(B)Y^ b"Myasthenic syndrome, congenital, 8 - < Ku#V,voMeester-Loeys syndrome" <")]fbG 8 WIPj&l)0aXP \Occult macular dystrophy  %J,wwwA TCavitary optic disc anomaliescwaS!Apparent mineralocorticoid excess 6G T , c ^;Intellectual developmental disorder, autosomal recessive 14  W*Spastic paraplegia 35, autosomal recessive   4C  %\B,, Q-Congenital disorder of glycosylation, type Im<l~   :l+sx= C&Hurler syndrome@%<m"~[kfu{o ( q x 5 UO m"b,/0x\[u WAThrombophilia, hereditary, due to protein S deficiency, autosomal  NDt{ mJoubert syndrome 32b<%g&N s %N-acetylglutamate synthase deficiency 2  'N[! j-Epileptic encephalopathy, early infantile, 469@    '".` t Zaki syndrome4h~BT[\z(Ckw H Z  ,&l)*n00>="Cataract and congenital ichthyosis uACCES syndromeU\qi/  q&.5 Strabismus, susceptibility to{"XTangier diseaseEzkt = mO *M+Xd|7|8 \x$Immunodeficiency, common variable, 6ci~ *.?01+11}B\ t!8Deafness, autosomal recessive 118, with cochlear aplasia !O,oE Z!Glaucoma 3, primary congenital, De;G t]Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobinA]_k )'+..ccE7tHallermann-Streiff syndromeC [q78LPd6sf 8, n U Z 6  )++=xO nLQIntellectual developmental disorder with or without epilepsy or cerebellar ataxia~5 )9  X/,0b |R lZMeckel syndrome 13 q[)[% sYd%Polymicrogyria, bilateral perisylvian Npf)3 ;cLymphoma, non-hodgkin, familial i;sEnterokinase deficiency 1 PNProsopagnosia, hereditary) x!Encephalopathy, porphyria-related Wao  E X '""*8,|}~= [ fF/Hennekam lymphangiectasia-lymphedema syndrome 2<mE ! ?y!g0P0a+& Anencephaly  n 9 f Myopia 24, autosomal dominant%* hSmith-Kingsmore syndrome+<?KW\ KMQG | /&"&(..1jb a{"Heterotaxy, visceral, 6, autosomal s # (---;.Q g?5Short stature with nonspecific skeletal abnormalities = mMethemoglobinemia, Alpha type /W Z#Liver failure, infantile, transient {g X ^  8  '@"| * eOrofacial cleft 14O _Arthrogryposis, distal, type 1B. 4 %0aN2"Spermatogenic failure, X-linked, 7 ,// - YMicrocephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs z]|& s&mImmunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes : oHDiamond-Blackfan anemia 19o/e2I cCone-Rod dystrophy 18 $[%A*,a B'Lipodystrophy, familial partial, type 7:gEhqD6WC,<ky x 4 | '3k=#&"&,.N+ 1'Ichthyosis, hystrix-like, with deafness1 ,  .Sz84Pseudohypoaldosteronism, type I, autosomal recessiveI[i 7 V' 2" nz:Intellectual developmental disorder, autosomal dominant 58))3<DKfDMfK  r "*8..0|h ,(Muscular dystrophy, limb-girdle, type 2F  ? ku#, g%Trichothiodystrophy 3, photosensitive%mq8YS` 7!&.0nk sVVisceral myopathy 2   %^0y|q?$Celiac disease, susceptibility to, 1-7< cf 0 i U ^ ="((+c.t&+JAortic valve disease 1 ]dor-(?<Carnitine deficiency, myopathic ~ vt a8Hypogonadotropic hypogonadism 15 with or without anosmia 6 )"0@ A$Uveal melanoma, susceptibility to, 1 $M XDiamond-Blackfan anemia 4 _Sh/ehb60Deafness, sensorineural, with pituitary dwarfism 8>G )} fx-Developmental and epileptic encephalopathy 26@ P  'f*C,/0 [6$Chromosome 5p13 duplication syndrome.L<BQUfq5AEFY}S)r 8 Z &%1lB(Trichothiodystrophy 4, nonphotosensitive8I:>]Ht | &)OPorphyria cutanea tarda, type Is(xHо(Steatocystoma multiplex with natal teeth=/2Leprosy, susceptibility to B rOculomotor-abducens synkinesis &;_ <+Cerebral palsy, ataxic, autosomal recessive X  , 3Charcot-Marie-Tooth disease, demyelinating, type 1C c x 6 7 I g  %m>aQ85Corneal endothelial dystrophy and perceptive deafnesskO,B8 < Deafness, autosomal recessive 26 o$;Neurodegeneration, childhood-onset, with cerebellar atrophy"1,4@ H  \MZ,,./Nb36T-SUBSTANCE ANOMALY j0Combined oxidative phosphorylation deficiency 30Ng > 8 'h z ...x||[6F i*Advanced sleep phase syndrome, familial, 3|R&Robinow syndrome, autosomal dominant 1G6;<K~<W[fqF}-=t | |"$&(2(9,(.0Pu wH pSpermatogenic failure 42 /./012 Z:9Hemolytic uremic syndrome, atypical, susceptibility to, 2]6Qo B %-,V 5:Deafness, autosomal dominant nonsyndromic sensorineural 17% pO'donnell-Luria-Rodan syndrome %u   +./0|l 2Acrodermatitis enteropathica, Zinc-Deficiency type9  ,;",|W gLArboleda-Tham syndromep ~/34BDEUfq!5 '4@MS]_jk<24] 8   S ) r )*!!"#&%'C'},,...1NMbb|` gVMyasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency'L- S < ? K #V..0Zv` bC(Splenomegaly, cytopenia, and vision loss $<T%l kTLymphatic malformation 7_o2 ; (F* 5P'Neuronal intranuclear inclusion diseaseh,9G 0 j K g x / oVIntellectual developmental disorder with short stature and variable skeletal anomalies5 q&2*p-0a4qaColoboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation m78d iDImmunodeficiency-centromeric instability-facial anomalies syndrome 4 <  PXF5Bernard-Soulier syndrome, type A2, autosomal dominantQV^._.eyzJ ]*Complement component 8 deficiency, type IIR63^wMEDULLOBLASTOMA E1Hemopoietic proliferationO qTArthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum[q. "+/H@ U2 Febrile convulsions, familial, 9I E*aM v!Episodic kinesigenic dyskinesia 34%< W$Chondrosarcoma, extraskeletal myxoidm UWaardenburg syndrome, type 2E{LS 9 2",p,s,u,v4 Coxsackievirus B3 susceptibilityM i5Parkinson disease 23, autosomal recessive early-onset CFH|   \X,0,|Q r\Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities(<W 5[g  H Z g x  '\,1NMNQ?P#Pterygium of conjunctiva and cornea#3 tI Cataract 49%*,>'Sugarman brachydactyly&(.I u8)Auditory neuropathy, autosomal dominant 3m tR^Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies N ,_GElectroencephalographic peculiarity: fronto-precentral beta wave groups 1 n0Myasthenic syndrome, congenital, 23, presynaptic, 7 <  '#u|l =4Retinal degeneration, late-onset, autosomal dominant "<? ,{+ I `#!Hypoplastic left heart syndrome 2] *-(k e'Epiphyseal chondrodysplasia, Miura type b7 Z ` 'G)z}.xAcrorenal syndrome$/H,Maturity-onset diabetes of the young, type 1(z4| g4Myopathy, isolated mitochondrial, autosomal dominantg ] z #"),.C:Lymphoid interstitial pneumoniaprWHomocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity ,lp  I]% FG syndrome 5/WF |',B0C _8#Bleeding disorder, platelet-type, 9Q  c2Ehlers-Danlos syndrome, spondylodysplastic type, 24[P3fi- 8 ` c   W"x%%'A)O))+,M0PXw p'/Ectodermal dysplasia 15, Hypohidrotic/hair typee B"Spermatogenic failure, Y-linked, 1 ,/- N_Glaucoma 1, open angle, G/L sXAAtaxia, intention tremor, and hypotonia syndrome, childhood-onset 5 Z(8+Z0O vCardiomyopathy, dilated, 2H  '-g.1xM +W%Cardiac arrhythmia, ankyrin-B-relatedmy` -(Aprosencephaly and cerebellar dysgenesis [Ssyad%Wieacker-Wolff syndrome2?W[qAF ,4 8  S Z mq%&)* *6.0a06 ]C1q deficiency s%Brachyolmia type 1, Toledo type z Z  O "/"Q *Fryns microphthalmia syndrome 8|C)+Fetal hemoglobin quantitative trait locus 1.<&Carnitine deficiency, systemic primary%  ,cfghu2 ~ uG,v||exl-Renal failure, progressive, with hypertension S]{6 [ \Wiskott-Aldrich syndrome,pQX`bc "  '"+d./A ."%Neural tube defects, folate-sensitive(={'Hemifacial atrophy, progressiveE %!g,C,05K VgRiddle syndrome  +},NH i$Bleeding disorder, platelet-type, 20Q4Myxoma, intracardiac!#- wRLeukoencephalopathy with vanishing white matter 4, with or without ovarian failureeGH 0%,|c a2#Ceroid lipofuscinosis, neuronal, 11 ,K^.dmB*Mental retardation, X-linked, syndromic 34BB!F7 ')9fK]_hkw  Z | ;M"%+Z,N-.+1vw|f? TImmunodeficiency 35  M, 7 vBODevelopmental delay with variable intellectual disability and dysmorphic facies63<?BEPQq8>Ff Z rSj#&+.0A n-Epileptic encephalopathy, early infantile, 688C[2HUy H\)2 m<:Intellectual developmental disorder, autosomal dominant 51$\@)G E j&%).0012 zz= F= L9Methylmalonic aciduria, vitamin B12-responsive, cblA type! 9DQSTo2j ` g I  "/X|efk nOCiliary dyskinesia, primary, 38s> S'+e//0`z r{Osteogenesis imperfecta 21f7 U Z q  X",,MUD-Lymphedema and cerebral arteriovenous anomaly,3 r5Neuropathy, hereditary motor, with myopathic features[ 7 I kZ*"#"#%#C#]*N,'Paget disease of bone 5, juvenile-onset&m"N,ef | Y  L S  \PW*y%K x@ Cl Deafness, autosomal recessive 31 !kP T Atrial fibrillation, familial, 4 +pCole-Carpenter syndrome 1[J6T U Z  X`.[ cQ[Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12!"8MB');[ = u Z \,P.|w K['Limb-girdle muscular dystrophy, type 1G ~ ];"" lMImmunodeficiency 71 with inflammatory disease and congenital thrombocytopeniaQ I  +.xab|E}2 ]i :i-Ichthyosis, congenital, autosomal recessive 5   7b_;Myopathy, granulovacuolar lobular, with electrical myotonia, Z~ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1<2n*T[q!-8MajQ')@%GN = y\{%!g"*p1| aVBPulmonary fibrosis and/or bone marrow failure, telomere-related, 1rTo{. / 6 0$1c.xnz|qH.,Cornea guttata with anterior polar cataractsn bCowden syndrome 5$"G[m!5DUVNZ  Z * &T)q&Q4Dementia, familial danish m[ . e4Mitochondrial complex III deficiency, nuclear type 7 F'WUg 8'& z .. PIMevalonic aciduria4 EfqP Qo   ^  |+/c[~B[ 1-Congenital disorder of glycosylation, type Ibkr9 rswd  :,|b[E-Complement component 4, partial deficiency of tNoonan syndrome 1423<EUWfqabgj{`r  k/,0uV &Epithelial recurrent erosion dystrophye%&, T Z tv.Spondylometaphyseal dysplasia, Pagnamenta typeEP U ~  %"'<'?,(,. tU-Developmental and epileptic encephalopathy 981@  %'lj)'*c,1jNc- Coats disease+S/D wASpermatogenic failure 82 ,./0Z.:Perifolliculitis capitis abscedens et suffodiens, familial<0" +ZEpidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive    ~ oQLeukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate   ( E %,/0rDY[T! m]Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features-P5>@HX | "* +.P./|_ AKufor-Rakeb syndrome**]489CD| G Q y x %^9# ,0Zx% f)Mental retardation, autosomal dominant 29;3<Wmq!@i< 8 E M z  j'G(8):01bIlGaucher disease, type I6ruQTo,.A ] ow* k4Brachycephaly, trichomegaly, and developmental delayq>Pu 0 ]+= .Ehlers-Danlos syndrome, arthrochalasia type, 1"3 fW Z c  G"L$%D.}5, Ear exostosesmkxDA l0Combined oxidative phosphorylation deficiency 32$UA49@Cg H 8 '\)'.1X o:Spondyloepimetaphyseal dysplasia with joint laxity, type 3 sf Z [ p!/?|r D:Intellectual developmental disorder, autosomal recessive 2 @ j*p|l'Contractural arachnodactyly, congenital3 [!;a]_bkou,0 8 Z 4W!#$&)0a1xOWo OO#Ceroid lipofuscinosis, neuronal, 10Tq<Q -8U > > IR*p,% p^INeurodevelopmental disorder with brain anomalies, seizures, and scoliosis33?QU\fq()f  Z  S u |'*p,P,-1` 1sAuriculocondylar syndrome 17[fqz8ce`!Y!o##by%"Ceroid lipofuscinosis, neuronal, 1!"&`j 8[  1 8 9 C%Il[FSplit-Hand/foot malformation 2/&K'A} c=Cortical dysplasia, complex, with other brain malformations 4  0|~;#Isovaleric acid, inability to smell_G!!g"#&K&'A()Y[JW,Pituitary adenoma 4, ACTH-secreting, somatic6l")A M T R 1zN=Spondylosis, cervical ! k m+Congenital heart defects, multiple types, 5 ]_dlor  x;'Immunodeficiency 114, folate-responsive Q`a k  '".|z} j}r YS*Polymicrogyria, bilateral temporooccipitalGNU ? P  %dmz r0Combined oxidative phosphorylation deficiency 48 ,g 8 ..1x s Cimdag syndrome#,9()4@ N 8 #*p,P,.c=x q~ELeukoencephalopathy, motor delay, spasticity, and dysarthria syndrome    jc|M Q!Brachydactyly-Syndactyly syndrome&K./0aa J1Macular dystrophy, butterfly-shaped pigmentary, 2 %A,,PKearns-Sayre syndromeDN3=,fW j 8  - G!>Encephalopathy, acute, infection-induced, susceptibility to, 3*{ j J oJCongenital hypotonia, epilepsy, developmental delay, and digital anomalies<Yz~UW\fmq8(@fi []_w5 N Z 6 r `&%)=)*.9c1`B l3Microcephaly, short stature, and limb abnormalitiesFn q+&'Ad Q(Diabetes mellitus, transient neonatal, 3   ' ?&H,bdmxK;HGlioma susceptibility 1 H%x/l ]X,Epileptic encephalopathy, early infantile, 7 4 '*c 8 N Deafness, autosomal recessive 51S r/Erythrokeratodermia variabilis et progressiva 7E ^Spinocerebellar ataxia 32z-Mental retardation, X-linked 9u} & &,U n-Microcephaly 23, primary, autosomal recessiveT & c[Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14),@ u  ',./Nu^74Elastosis perforans serpiginosa n3Glycosylphosphatidylinositol biosynthesis defect 17 0HKk E qM,c{Oculopharyngodistal myopathy 1. U,9KRgl  +2  B  %]mu"4#C),00~UfAngelman syndrome-/G!A{ @CHX   1 Z]lCH"*8*p| c qTreacher-Collins syndrome 4D["%Rc v7Ciliary dyskinesia, primary, 48, without situs inversus>+d/d P Cold-Induced sweating syndrome 2 a z S.buvoE(-Polyposis, intestinal, scattered and discretevY qMitchell syndrome@  >j0,0g+ \Witteveen-Kolk syndrome/34<?BDEQW\mz8Jd8f5Gz 8 H Z |  'qZMj"$;$%&2&C&&&)')*n*p+,.9.0Z11d.uv4}MF w eNImmunodeficiency 22Qo "  !g#,0bddu56Amyloidosis VI>z +Bone pain, periodic ] I,Microcephaly 5, primary, autosomal recessive!TU[mF)G ],j&,lG jDeafness, autosomal dominant 70 %]q g-Epileptic encephalopathy, early infantile, 30 @2K . 1 WInflammatory bowel disease 19h+s8Aplasia cutis congenita with intestinal lymphangiectasia`d ! w CSpinocerebellar ataxia 17( 48 X{ c  \,.79Microcephalic osteodysplastic primordial dwarfism, type Ik6Ykq 7BKT[q6nz(:[W]_dw)-NU  ( g X   oW,!g"%&2&b'A-g.u`w~G^H#t(Spinal muscular atrophy, scapuloperoneale#Y#d| t(Trichothiodystrophy 9, nonphotosensitive#f   } sqOsteootohepatoenteric syndrome ]mPist o3 TXo,/0B\\Exfoliation syndromel&,1S1U1W1Y1[1\u:PHypochondroplasiaSa z %"&W+1o(SEpidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase  Denys-Drash syndrome!%=adip6 S k (bi EM2Spastic paraplegia, ataxia, and mental retardation 4C v  ,,> kDiamond-Blackfan anemia 16_jo n b3Leptin receptor deficiency/378    5/w n?Cardiac, facial, and digital anomalies with developmental delayJ<mqESfV]_kor57< G` S Z r  'Ge$$)*=-(.u}-X`ScMental retardation, X-linked 63 C, em6Short stature with microcephaly and distinctive facies"4\Ao P %&*.1 w+Congenital heart defects, multiple types, 9qj|  G-(-;-wy&|Z cr=Cortical dysplasia, complex, with other brain malformations 2@N l*p,Nl w i}.Congenital disorder of glycosylation, type IIpsu ^ 4 E S  %*U,.0 0;0Fb||w v7Joint contracture, osteochondromas, and B-cell lymphoma  B ",/uv/ sKInfantile-onset multisystem neurologic, endocrine, and pancreatic disease 25%4mfruV]oGgk 3  <!+1vo/Combined oxidative phosphorylation deficiency 6,Vg G H  \ l cg8Hypogonadotropic hypogonadism 21 with or without anosmia m7%9*A: j,Polycystic liver disease 2 _Pp;Convulsive disorder, familial, with prenatal or early onset8 j[>Neurodevelopmental disorder with microcephaly and gray scleraeP G *p1^x _0Inflammatory skin and bowel disease, neonatal, 1  ,a] gAw sb;Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 H~[ $*( ^ Acatalasemia0]D1Tibia, hypoplasia or aplasia of, with polydactyly h%T) lAl Kaissi syndrome83<?EKWfqy f$_GX y /"'Gbu| wv q*Spastic paraplegia 82, autosomal recessiveC H bfb| s.#Leukodystrophy, hypomyelinating, 21,4@  "b4D(Cardiomyopathy, familial hypertrophic, 3gmu Z)Spastic paraplegia 36, autosomal dominant C v \4,B `Febrile seizures, familial, 11 E PB: P6Camptodactyly, tall stature, and hearing loss syndromebm, Z0av \5Myopathy, lactic acidosis, and sideroblastic anemia 2,g2g ^ 8  \ht ..i o5Epidermodysplasia verruciformis, susceptibility to, 3  o ,%)r,,b kk qImmunodeficiency 70  0 " *+d0Nsbd} k kLopes-Maciel-Rodan syndrome!!49@C  $ 8 H P Z  X"*p,. wW l\Meier-Gorlin syndrome 8 [q !g!+v01'6Retinal dysplasia, primary% h(7Neuropathy, hereditary sensory and autonomic, type VIII/y-  9m*M*O,2SX'Macroglobulinemia, Waldenstrom, somaticu i  c \Retinitis pigmentosa 56Dc%*9k,xrHemifacial microsomia7JLVhDG[8E|{t]dk%)  Z ) y 4? !g!&B&&,,,D,N.{Prader-Willi syndrome_,.6<@ U!5F78:JNl '0iKWGk 8  Z ) 4  PZbgjY"$)',01cuxx|l w2Temporal arteritisj ^ DESpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 x  4 0 4 g %m9?6Premature centromere divisionp$Hutchinson-Gilford progeria syndrome[<cz @==.m eIntellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies>%<f!:u9:@ai 8 H ) *p....00yAI;>Cataract 46, juvenile-onset^m-U bn-Ichthyosis, congenital, autosomal recessive 7bbv gw:Intellectual developmental disorder, autosomal dominant 33  Z  iKdCerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 26  D0ax~Eu k\)Bile acid synthesis defect, congenital, 6F  || q#Li-Ghorgani-Weisz-Hubshman syndromeq5FY]_k5G qj"*n0P b@Carpenter syndrome 2K16&<WfqCFPS_ksI q<!#&&'):+,(..0a|1~Echo virus 11 sensitivity :Alopecia-Contractures-Dwarfism mental retardation syndrome ![< |"):*pu ^b)Pituitary hormone deficiency, combined, 6 X h'--.vvyzYp-Hypophosphatemic rickets, autosomal recessiveSd 0*3Immunodeficiency 98 with autoinflammation, X-linkedQSb } %#*+c./|/Ndl+7|Nevi flammei, familial multiple4Platelet factor 3 deficiencyd;lAcetophenetidin sensitivityOV/W ` *Spastic paraplegia 46, autosomal recessive%mC  v  * J f Z %\jJC,,,NDbRGray platelet syndromeQd \ .`./s0Q +9Deafness, autosomal dominant nonsyndromic sensorineural 5: iLOocyte maturation defect 2 {A 0U-Cerebellar degeneration-related autoantigen 3%n-6Arthrogryposis multiplex congenita with whistling face Z~8 P|Hyaline fibromatosis syndromeq0[  \, 5|Spinocerebellar ataxia 10  Cx  x  Xy\,M sgAngioedema, hereditary, 8  Z.z 9k s#Bile acid malabsorption, primary, 2} ')bx||m gMyoclonic-atonic epilepsy9I Z%j*C+,b x \u$Immunodeficiency, common variable, 3 " % *+d,.?v}} `I2Arterial calcification, generalized, of infancy, 2y6chuz  0<-1xuw8Glycoprotein storage disease l3ENeurodevelopmental disorder with midbrain and hindbrain malformationsW(r 7 .,/No ^AImmunodeficiency 51-* #+d+|,jaz<zE go ]Episodic ataxia, type 58S|  E%f*b+,.a m;)Mental retardation, autosomal dominant 50 j.B̄Van den bosch syndromes P=-Hennekam lymphangiectasia-lymphedema syndrome@LUV~<?Qq]_ ! Z 2  X?y %%):+90P0a w o'Trichohepatoneurodevelopmental syndromeR<Uq59)@CMfiV]k5  1 Z 6 S nq4))(),P.../0N`> RMicrophthalmia, isolated 38& ILExternal auditory canal, bilateral atresia of, with congenital verticaltalus A^.$C vDeafness, autosomal dominant 87mx ,{ aaMalan syndrome$/\ G Z q |',.FSpinocerebellar ataxia 34]C H L  Xw\,L-2-hydroxyglutaric aciduriam{ 0 H M XZn*Hypoglycemia of infancy, leucine-sensitive 9C 'n T1Brachydactyly, type B2 %%&k&s&'2''):)} g-Epileptic encephalopathy, early infantile, 29.   e  "&f Yu)Nail disorder, nonsyndromic congenital, 1 t ]0xT - Axenfeld-rieger syndrome, type 2//<BGmj[Ow a-Peroxisome biogenesis disorder 7A (zellweger)W\fqN ]").0PLAlbinism, ocular, type I eSQFkLymphopenic hypergammaglobulinemia, antibody deficiency, autoimmunehemolytic anemia, and glomerulonephritisc`b*)uJE@Kleeblattschaedel syndromeS t r bSteel syndrome<a Z z  q%+,.b jV*Spastic paraplegia 77, autosomal recessive  [  ]*,W?Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2<'Whistling face syndrome, recessive form<WZ[E $).0a1:Carpal tunnel syndrome &f//GICircumvallate placenta syndrome-z| fPoretti-Boltshauser syndrome!,Q ( . yvya [Leber congenital amaurosis 14 &,e IBoucher-Neuhauser syndrome$,,eo  Ox %\m_*#p),. vvvJp8*Myoclonus, cerebellar ataxia, and deafnessm8s no;Intellectual developmental disorder, autosomal recessive 63 @  *p+< a Deafness, autosomal recessive 98 f<Bardet-Biedl syndrome 19SY~m!$u]_k& 9-9NQ|< ` Atrioventricular septal defect 4 ( _=Peripheral neuropathy, myopathy, hoarseness, and hearing lossm9I x%\m&f. v=Congenital myopathy 2B, severe infantile, autosomal recessive ~- u .bvoO?Xanthinuria, type I ~$ ~ |**0*[Z b -Congenital disorder of glycosylation, type It/~[P7,u~]hlmq,. ^ X =/S0Zv{|| dLRheumatoid arthritisZjk  I k l+/0Z Z f6Porokeratosis 8, disseminated superficial Actinic type%, b l"Leukodystrophy, hypomyelinating, 3A@V 1 o   \*X"v1X5Small cell cancer of the lung m-Epileptic encephalopathy, early infantile, 59 @G  8 P u Z *Y0l >"Ovalocytosis, hereditary hemolyticV]; UHypomagnesemia 4, renal & eI ])Complement component 8 deficiency, type I RAlAlzheimer disease w A p&Neurooculocardiogenitourinary syndrome<?\q8M%@]_hkw <le!(I9Sabinas brittle hair syndromet ,_u aSeckel syndrome 7 Yi q|!g*p,P. T y(Premature ovarian failure 24 el   (,.y= mfNeurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures@2G  '\"+wXnKEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive_R*3,0 n#ARhizomelic skeletal dysplasia with or without Pelger-Huet anomaly/x]af u ) r ""&b'<'?'G,.0a|< 3 Deafness, autosomal recessive 13m iLDevelopmental delay with short stature, dysmorphic features, and sparse hair]<[q(] Z+xO +Ehlers-Danlos syndrome, periodontal type, 1 bP"3]fI Z P]x`zAk M\Majeed syndrome7[j ] *+s/daqd=Atrial septal defect with atrioventricular conduction defects ]dG/XSeptooptic dysplasia a8i3V$() eImmunodeficiency 23/ 8fSVX`3> 8 Z k y K*,/Nhd}} ]B}RCornelia de Lange syndrome 556&<W[m! aG q"""% wImmunodeficiency 47/\YfrstuQZi " ^ 4  '<,.0 0;0F24||}}^XGaucher disease, type III8QTKw ( HF,Xq25 duplication syndromeb)/> ) 8 0` jBardet-Biedl syndrome 22& 4(>;fVitamin A metabolic defect)&N}tAngioedema, hereditary, 1, i*,,.O.cZ9[;Arthrogryposis-Like hand anomaly and sensorineural deafness ^g"Disorganization, mouse, homolog of  a/? |Sonoda syndrome7]1 /yThrombocythemia 2f d!Chromosome 5q12 deletion syndrome+<BKW[f5}]_kw E 7"&%)*0PQ PChilblain lupus 1 =  $%,x j"Spinocerebellar ataxia, X-linked 1' )  %`rJDTylosis with esophageal cancer %N,=!Pituitary adenoma 2, GH-secretingM MU X5Breast-Ovarian cancer, familial, susceptibility to, 2 ,~[Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy< 0 2 ; IpD&f,1v~E b/-Developmental and epileptic encephalopathy 14#1 @CHUy{ H  '\"*B+++++01 <>Homocystinuria-megaloblastic anemia, cblG complementation type'j/Sa 2lp B >  'J,P./X20Goiter, multinodular 1b O=DColorectal cancer K<Ta u3Diaphragmatic hernia 4, with cardiovascular defectsK[qan]), 8 S YqSk##-Tw|Z e;Intellectual developmental disorder, autosomal recessive 43q  '*n+1|l a Pontine tegmental cap dysplasia @C ' Z  y`),./{x mJMNeurodevelopmental disorder with microcephaly, seizures, and cortical atrophy+T[q! @LVW HU u  |  \B!A+II xB)Oocyte/zygote/embryo maturation arrest 21 ,8 jm\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3Ng  hku#voGaucher disease, type II 5ZCQo 48 (  (C-F..1? aNephronophthisis 14Zq"(N ;oBohring-Opitz syndromeJL&<IU[fq!FK[]]_'5M =  S o/+,.0a f)Mental retardation, autosomal dominant 315}'8@ -X e '*4+,.Mq)Microphthalmia, isolated, with coloboma 48Mx; HDeafness, autosomal dominant 43hRGranulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I   %h2@ tSpermatogenic failure 64 ,2AT ] Cardiomyopathy, dilated, 1GG cl2 z1xuw1$ Hashimoto thyroiditishui9 siLymphatic malformation 10" D cShaheen syndrome   o[FEncephalopathy, progressive, early-onset, with episodic rhabdomyolysis@ U H  \l,P`R.Anhidrosis, isolated, with normal sweat glands;#8 XCowden-Like syndrome O /R7 1[Deafness, autosomal dominant 15m\ 8Leber congenital amaurosis 4 $3j/ W sCiliary dyskinesia, primary, 46 m>+d//~U~V% W{ Ewing sarcoma/< X(Diabetes mellitus, insulin-dependent, 20+2 ]Blood group, cromer system-Developmental and epileptic encephalopathy 905_  H P  '=*c*,P,1 e-Developmental and epileptic encephalopathy 23"&BUy>u8@ P  )*C/N00` =0!Ossicular malformations, familiald! GKagami-Ogata syndrome'GW[Esz [7AV]_jk), q !g&b,G1 o-Epileptic encephalopathy, early infantile, 74@ P 'f*C+,P,0 y p5Spondyloepimetaphyseal dysplasia, Isidor-Toutain type o Z  "vSiADeafness, cataract, retinitis pigmentosa, and sperm abnormalitiesm Y>Keratosis follicularis spinulosa decalvans, autosomal dominante<t% ,auf} VHAmyotrophic lateral sclerosis 10 with or without frontotemporal dementia,a ^v _3?Craniofacial anomalies and anterior segment dysgenesis syndrome<yIG  {!,.*0 t`Joubert syndrome 40 a s L -(Facial paresis, hereditary congenital, 1`@)0C n3Glycosylphosphatidylinositol biosynthesis defect 18@Kfm @fh HU Z S u  qQ&'<*c+,P../Nvy`s ,BCardiomyopathy, dilated, 1El%+,--1xcOParastremmatic dwarfism [ Z )  W| nMDPolycystic kidney disease 6 with or without polycystic liver disease Sq6 \/v 1.Macrophthalmia, colobomatous, with microcornea!7LRd(x8 >z Deafness, autosomal recessive 27P `Microphthalmia, syndromic 11 8 1\\֐Synpolydactyly 1&1 q|T#'G.rضBSynostosis, carpal, with dysplastic elbow joints and brachydactyly .#I -zPatent ductus venosus u ...N Mo.Deafness, neurosensory, autosomal recessive 46!k,9*Hypertrophic neuropathy of dejerine-sottas#X Z j x 0 4 6 7 g x  mu#C#]*w+Xu fZHFanconi renotubular syndrome 4 with maturity-onset diabetes of the young]y3d ^  % S  '79;Blepharophimosis with ptosis, syndactyly, and short stature/5>E5#):c?h3Cerebellar ataxia and hypogonadotropic hypogonadism,el % ,dloI3Choroid plexus calcification and mental retardation H j 0*pI Q:Angioedema, hereditary, 3 i.O/9a fGlucocorticoid resistance6Z . R,0Zc$u r .2Ehlers-Danlos syndrome, musculocontractural type 1Ld~4<DQWfmq!PQ3 ]f-_bu{;G  Z | 'I<40z[2DCeroid storage diseasewj V,Ciliary dyskinesia, primary, 7s+>,///1x i sL-Developmental and epileptic encephalopathy 96  S*c+Y, {3Myoglobinuria, acute recurrent, autosomal recessive,i a %",c[ Z6Neuropathy, hereditary sensory and autonomic, type IIB-N 7 x %\$&+,0w| qbMyopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies*JY~/?EKUW\q5 5)- ~4#&)=*4.2u nHPNeurodevelopmental disorder with cerebellar atrophy and with or without seizures"W%9@C8 P  qlv"*4.u|8 D Deafness, autosomal recessive 33m1Dermatosis papulosa nigra= ULeber congenital amaurosis 1097Vesicoureteral reflux 1L{3Mental retardation, X-linked, syndromic, Houge type0@H Ejx{|f uwHoloprosencephaly 14$q 3:P]G 1 j p L{&*,2~GA o%Fetal akinesia deformation sequence 4[fqn. *0adL@ iPremature ovarian failure 11el (,B \Brachydactyly, type E2'A) bLymphoproliferative syndrome 2*T{ i /|/Nhz}T f`$Focal segmental glomerulosclerosis 8]ad%,T tSpermatogenic failure 65  ,/2C./0q pcNeurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies3<BDZj)M$N Z &L.0u`^Basan syndrome  ' )}bu\yEx ]HMethylmalonic aciduria, transient, due to transcobalamin receptor defectp `  '/X D^Smith-Mccort dysplasia 1 rt` Z y ) "R"}"&K'A)V, .0Cholestasis, progressive familial intrahepatic 2rz~ F \ S  k@Lung disease, immunodeficiency, and chromosome breakage syndrome<  '"+},N...z< L Deafness, autosomal recessive 48, qhCDiabetes, permanent neonatal 2, with or without neurologic features[ oxK+ YjVExocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis3 y '+* x1Proteasome-associated autoinflammatory syndrome 6*rhT`*,W j  '++c[uvx?y{9||R)B>/[o[6Photoparoxysmal response 1*d-Uterine anomalies-D n~Spermatogenic failure 30 ,xy>Wp7Myeloproliferative disorder, chronic, with eosinophiliaX~v m2Hydrocephalus, congenital, 3, with brain anomalies )PG  e01bD nPremature ovarian failure 14  (,./ \Retinitis pigmentosa 55!Spinal muscular atrophy, type III J ^ B n t %\muey""dlU!Ghosal hematodiaphyseal dysplasia QZ*. sAlzahrani-Kuwahara syndrome$/?W[fmq]_w U a.500uczBC\Mastocytosis, cutaneous * 'HMultiple sulfatase deficiency"m"' G [ j!'G+X+,(0PT W8Deafness, unilateral, with delayed endolymphatic hydrops&w h.#Leukodystrophy, hypomyelinating, 11!89 o e ,| ppiIntellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies[mq>F K ZqS"$+U 0Craniometaphyseal dysplasia, autosomal recessive/< 7Y&,)} @Huntington disease-like 24C H ) 2 vB< Lung cancer, susceptibility towu~v8 ,pPleuropulmonary blastoma + E P.Mandibulofacial dysostosis, Guion-Almeida type#[qF]_2 |!g"%. o3Mitochondrial complex I deficiency, nuclear type 18H~18C > 8 '.." iNHypotonia, infantile, with psychomotor retardation and characteristic facies 31TU()- -G H Z :M*4*,000111` wDThrombocytopenia 8, with dysmorphic features and developmental delay&/3fmFk5Q   o!g++,N..e~= I 8Febrile seizures, familial, 4 E *B*C,a i5Chorea, childhood-onset, with psychomotor retardation  r".Spinal muscular atrophy, infantile, James type ,U- Z z  m)2|?2)Solitary median maxillary central incisor8MY8>0P d&)a8 iTooth agenesis, selective, 7^ gDystonia 26, myoclonic48R%\,/dle _+=Hypertelorism, preauricular sinus, punctal pits, and deafness1<mCsx I(Cardiomyopathy, familial hypertrophic, 8cgm ;%*x1xz?pp@Humeroradial synostosishumeroradial/multiple synostosis syndromeS !g+d@Leukemia, acute myelocytic, with polyposis coli and colon cancerw k@Periodontitis, aggressive, 1Px`E qNAutism, susceptibility to, 20j1N _*Mental retardation, autosomal recessive 25 & l,Stankiewicz-Isidor syndrome&)/16I<D[fmq]_k| &1&2,.1`O 7Cardiomyopathy, dilated, 1G cl +1x? kW#Mucopolysaccharidosis-Plus syndromeC\]adi{&0@[{_cgkQSZo2r x 5   "g+00^ `.Ehlers-Danlos syndrome, kyphoscoliotic type, 2.T!PY3',ku u ~ <N,.{|9k/Lecithin:cholesterol acyltransferase deficiency S]<Vgk CcYy u)9Epidermolysis bullosa, junctional 6, with pyloric atresia  /!g(N t*Spastic paraplegia 85, autosomal recessiveD tJ*M*N*O,*Popliteal cystj K rIDeafness, autosomal dominant 78 ,V .*Hyperinsulinemic hypoglycemia, familial, 29'* QNoonan syndrome 4.I~<fq{]_gjQd Z 5=&,0}8 d Deafness, autosomal recessive 88 GCraniofacial abnormalities, cataracts, congenital heart disease, sacralneural tube defects, and growth and developmental retardation&B[]_ Z r mShwachman-Diamond syndrome 2qAGQSi  =*,[)Lymphoproliferative syndrome, X-linked, 2%-T{k  .|/S/|/aHbH$Mesomelic dysplasia, Kantaputra type %q(X)Hemifacial microsomia with radial defectsDs!g&,Dn 5Omenn syndrome 0<QXo*  M*D(Omphalocele due to duplication of 1p31.3 2ACROKERATOELASTOIDOSIS P k1Congenital heart defects and ectodermal dysplasia 0M Z M'j&),(.a S-Deafness, sensorineural, and male infertility  !!/2A2DE 1HAmyotrophy, monomelic L u  *yz2Patella, chondromalacia of H (,Short tarsus with absence of lower eyelashesV*Hypothyroidism, congenital, nongoitrous, 9'f. 36h riCOACH syndrome 3SZ\ o s k w/Amegakaryocytic thrombocytopenia, congenital, 2 QSTo{  n,f EGriscelli syndrome, type 2 (  /|C flDeafness, autosomal dominant 65], >t&Hyper-IgE recurrent infection syndrome5<SfX  Z   1#*+.yz<z|r|}+~G2B#B' ?3Transaldolase deficiency"BEqrs]_kwQTo3!\!Myasthenia, limb-girdle, familialU < ? B %m,0vvoD~$Thrombocytopenic purpura, autoimmuneQd ~r]Gaucher disease, type IIICohTcO'2Spinocerebellar ataxia 2)Z 8|~ ) L  m, n2Mitochondrial complex I deficiency, nuclear type 6  Cg-8Gg H 8  '$X")'.0{ Y^7Hypogonadotropic hypogonadism 6 with or without anosmia ,67 90A_ E3Migraine with or without aura, susceptibility to, 5e#` O4Migraine with or without aura, susceptibility to, 11e#;hOtitis media, susceptibility to* ua*Parenti-Mignot neurodevelopmental syndromeB[fqzFS j!g/lC NDeafness, autosomal dominant 53%dl LRCerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome<N u  V&f*p."Hand-foot-uterus syndrome)/06JLS]q"$$$%'2'y'})X0*\&Spondyloepiphyseal dysplasia congenita&m! +2  Z _ z ]"T"`")0P_ 0W/Medium chain 3-ketoacyl-coa thiolase deficiency a o aTetrasomy 15q26U~4<qz_k D00a Bz9Cardioneuromyopathy with hyaline masses and nemaline rodsf-. xjAb!#S *ZPolycystic kidney disease 3 q6 %P, l/DNeurodevelopmental disorder with hypotonia, neuropathy, and deafness- '@  1 u Z 'mtoBZ4)*p,P,..vou`< J Atrial fibrillation, familial, 2 8~Neutrophil actin dysfunction c.Spinocerebellar ataxia, autosomal recessive 14;C  ]C oOculoskeletodental syndrome!h&m5fr Z U ~ * ~E eX.Spinocerebellar ataxia, autosomal recessive 16 )9C \,+VGLUCOGLYCINURIA  $ m 9Myopathy, centronuclear, 6, with fiber-type disproportionf Z < B ]guB#,X G4Slowed nerve conduction velocity, autosomal dominant 7 +XL nSpermatogenic failure 34  ,/./0qk wDystonia 22, juvenile-onset;  %//0<Hypospadias 3, autosomal/nGlycogen storage disease V,e a  %~#U,[[[Y ir%Iga nephropathy, susceptibility to, 3 ]6\,1f qaBone marrow failure syndrome 65S`o +d.0vz9Fibromatosis, gingival, 1m j=Dyskinesia, seizures, and intellectual developmental disorder@U  1 8 4Diamond-Blackfan anemia 1=Y<[nV]_cQSfh m o /  'G !&1&2&(,,.v>WNephrolithiasis, type I S\`ryf [ 61NB EEpilepsy, juvenile absenceIK%*a s)Cutis laxa, autosomal recessive, type IIE%Wm0Sf Z z  'q/(B.?LCataract 30, multiple types[ )(Annular erythema*KVCrigler-Najjar syndrome, type I? ^ Z S*Spastic paraplegia 18, autosomal recessive@C  Z  \]J,,|X ^Hermansky-Pudlak syndrome 8!5A{S YF!3*/ 2uu{IV:Granulomatous disease with defect in neutrophil chemotaxisKB \Choanal atresia and lymphedema R Osteogenesis imperfecta, type XIEmPf U Z c S k  qgIntellectual developmental disorder with autistic features and language delay, with or without seizures Sf 8 H Zj0x aPEncephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6+c,0< _^Hypotrichosis 10= RComplement factor I deficiency Sc- I  %(-"+d,0*R.Congenital disorder of glycosylation, type Icc: pCMyopathy, congenital with structured cores and Z-line abnormalitiesU ,ch- Z u#"Nvoz| x#Leukodystrophy, hypomyelinating, 27)]4@Cf G H o u ' Z e  .|%Fibrodysplasia ossificans progressiva<-W Z > S qb!'2'F'})F...[8 n3Mitochondrial complex I deficiency, nuclear type 15m1 4C[gg ~ .cCardiomyopathy, dilated, 1Aclm ,-- ,~ Naxos disease![chlm  *x---byC gOS3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia8[u'489C[ucQSZd 2g H  \"*,.F w>Cortical dysplasia, complex, with other brain malformations 12);C Z  Eo*c.bu` m)Mental retardation, autosomal dominant 49& 3<?BTWqF< |&&%u Id2Mandibuloacral dysplasia with type B lipodystrophy)$@[?J~.[<N U   | 3kP#*#h&K&o[ kXRetinitis pigmentosa 77 Qm%9k,,dlz oFGlobal developmental delay, progressive ataxia, and elevated glutamine  E ,VW.Cutaneous photosensitivity and colitis, lethal * d1Autoimmune lymphoproliferative syndrome, type III* dY<b -")+d+/1"NhNcvvyA||qB k}>Cerebroretinal microangiopathy with calcifications and cysts 24sT%S,{9[  ,J"Gastric cancer, hereditary diffuse  /^BAchalasia, familial esophagealIZ j=2Hydrops, lactic acidosis, and sideroblastic anemia6]kQo,-g 1 ?  8 -/ddGwK?Inclusion body myositis  ]u#o/ +XVan den Ende-Gupta syndromeAEG[fErs~SfA,7 )  M\%(C(*0axOW[z> t"Cerebral cavernous malformations 4c<a.Melorheostosis, isolated\*[ i5Skin creases, congenital symmetric circumferential, 26./F&<[fq8EF G qS!g&0P1`} m-Epileptic encephalopathy, early infantile, 60 P  *c+Y\ faMicrospherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma!-;%UxU iMyopathy, scapulohumeroperoneal# Z  ]gk#A#C#),y UvQMicrocephaly with or without chorioretinopathy, lymphedema, or mental retardation*/TW!8F 8]j3t&+I(Cardiomyopathy, familial hypertrophic, 4 cghm.2  ~ %'-g---1xwzViӦ)Methemoglobinemia and ambiguous genitalia %/06> ./W25y, dzVan maldergem syndrome 2A/06Y%<GU[mE~f  Z \ Q!g%&'<))):)}*4+..1u[u~~ vCCleidocranial dysplasia 23Gm~M q ) %"T&+=+,(,, U4 s7Lymphatic malformation 9 <m Tetralogy of Fallot and glaucoma?d s0Combined oxidative phosphorylation deficiency 53Y  e  'tlM+ c>Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type),g.g  < ]hi$ 0Zu6 s<Hypertriglyceridemia 2k 4 [4 Acheiropody h&J&\&d'@) )*U S!Asphyxiating thoracic dystrophy 2  "'Ax&Polydactyly, postaxial, types A1 and B<&1t 'G):)},(Scarf syndrome#036&KWfqor X[k V&Cardiomyopathy, dilated, 1Yclu  '(L,,,-* ODiaphragmatic hernia 3G hVThyroid cancer, nonmedullary, 4U o O/]H Muscular dystrophy, Cardiac typef + _ d $Chromosome 3q13.31 deletion syndrome16 <BQq!MG Lj"% cNHypotonia, infantile, with psychomotor retardation and characteristic facies 1'?E[q1@C H Z | g \X""+.XC OSenior-Loken syndrome 6, .kCurry-Jones syndrome"D8EdK1GN  U %&&3&&*?,(,3,60cdd oKNeurodevelopmental disorder with impaired speech and hyperkinetic movements 49 [  '"bE%Intracranial hypertension, idiopathic6= p!'Robinow syndrome, autosomal recessive 2$<W[\fqo< u | 'G(4,(.0auE _)Nail disorder, nonsyndromic congenital, 9 Z<&Ichthyosis hystrix, Curth-Macklin type  &/T-Epileptic encephalopathy, early infantile, 36%4<q1[d  8 Z  :=X*C*p.0 w2 `!Atrial septal defect 8_*4Mental retardation syndrome, X-linked, Armfield type"+. w=6%Renal cell carcinoma, xp11-associated @Hypotonia-cystinuria syndrome& f/8 ',KLg  U 8 ; """)*4*p|+E fj!Deafness, autosomal recessive 103!x,B S*Mental retardation, autosomal recessive 12A ]9Mammary-Digital-Nail syndromet (Is h'Ullrich congenital muscular dystrophy 2'[f =  ')t gPolyglucosan body myopathy 2  ]")2,,-vNlBEctrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome1?,6FHLQhn~<GEel{8_8 /t Y!gPseudoachondroplasia,af % Z g  ) z  VC"%&K&'A')V)Y,0H f?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 ' ?  |8 bHypotrichosis 11 !Sarcoidosis, susceptibility to, 1,*enFrY T+,.19>Af 6"&(.).@/001q KMyopia 8! _E(Neuropathy, hereditary sensory, type IIC %\$"#C#]&fg jJoubert syndrome 27E s "(*NMNeu-Laxova syndrome 1=h<T[q18#);]kw.8)G  n ze$%&b+,0a0uz ,4Oguchi disease 1xhu=Multiple self-healing squamous epithelioma, susceptibility to < %j~ t*Ferguson-Bonni neurodevelopmental syndrome<[mw  c Z rBile acid conjugation defect 1 w \ %,||-#Fetal akinesia deformation sequence4<W[fqEs)3V.) U   tz%*1Wi MASA syndrome G : M )6 wCHyper-IgE syndrome 6, autosomal dominant, with recurrent infections-X3  M/}@B'}Vg|"Lactase persistence/nonpersistence %,,b*5 @#Primary lateral sclerosis, juvenileCHO ]p,dg1 F"Acrocapitofemoral dysplasia/w Z 2 5 z   hH&"U"%&b&'!'A'()O)SuQ[R BN2Blepharospasm, benign essential, susceptibility to *2NAntley-Bixler syndrome without genital anomalies or disordered steroidogenesis ;?Wy[_. X[./0a8Neuromyotonia and axonal neuropathy, autosomal recessive L k x > B %\#C,,/R"Spermatogenic failure, X-linked, 3 /./0q ^Keppen-Lubinsky syndrome$B[JBC[- E Z ,=#h&*4*pBU"Spermatogenic failure, Y-linked, 2 ,P 7 Vohwinkel syndrome, variant form ;)&/ba G!Macular dystrophy, vitelliform, 3 'eJ,,0dn'Exudative vitreoretinopathy 2, X-linked8R 5t*,- - 2)wwcqRubinstein-Taybi syndrome 1/1~&<?G[mq>CMC[fA]_bkwu2r  1 B n Z h 2 5 6  q;!""%&%&2&l'G'K'R(J()B*+O++,(,G-..Nxyf3 ]Achromatopsia 4e,p(BEhlers-Danlos syndrome, autosomal recessive, cardiac valvular form3fbu{8 X f$Bleeding disorder, platelet-type, 19 Qdo F ^*&Alopecia-Mental retardation syndrome 3 *p;bDigitotalar dysmorphism. $IThrombophilia, hereditary, due to protein C deficiency, autosomaldominant  A NtS/Night blindness, congenital stationary, type 1A*,/3wNEthanolaminosis hOyFactor X deficiency z= /0Intellectual developmental disorder, X-linked 30'PTFDI   |*p0P|lGlutathioninuriaY9C3 ) [ jHIntellectual developmental disorder with persistence of fetal hemoglobin [qzPfX 8 ..|l: ^Complement factor D deficiency Q!Episodic kinesigenic dyskinesia 1 %0K#Ulna metaphyseal dysplasia syndrome q xt8ҼCryohydrocytosisV^= 6 OAlcohol sensitivity, acute m΀ Cherubism7mr#%#},,xIxR x y[KfJackson-Weiss syndromeSXS'G'T']'f'y+.M!Nystagmus 1, congenital, X-linked / }%Williams-Beuren syndromel 6LSYy}%UWEYu{%356p )C[fEI]_bjou]f  8 B 0 |qij!"B"&)***./00 U@$Cystic angiomatosis of bone, diffuse  X#!Sarcoidosis, susceptibility to, 2*+,.19;>A )/0q* n Diarrhea 9, kBArthrogryposis multiplex congenita, neurogenic, with myelin defectU[5[) P u k4B,0aG iMJoubert syndrome 25  ) s D Z(Atrial fibrillation 8, susceptibility to  q5Neurodegeneration, infantile-onset, biotin-responsive N u  &f,/NG dc'Corneal dystrophy, fuchs endothelial, 8k /:ANONYCHIA-ECTRODACTYLY'@ R Holoprosencephaly 75 <8FJYdg:P = | ]L#&)))..0P(2HYPERHEPARINEMIAdQ8Tyrosinemia, type III  ^ Y  '*pw cPerrault syndrome 4 -Eel  "d+E Gs!Ovarian hyperstimulation syndromewi t)Agammaglobulinemia 9, autosomal recessive Q  'P,v, p8Leukodystrophy, hypomyelinating, 19, transient infantile/! 0  o u ' / | s@Neurodevelopmental disorder with hypotonia and dysmorphic facies 6z} %/U[\q>AFPY}8 C[fjtu]V38GX\ 1 P S  U e |  q|f#C#&)**C*+,N-(-g../?/000cu[ucx||}`f j`8Tubulointerstitial kidney disease, autosomal dominant, 50]aknpE6SZoei B ]  %'\ow|,N,,/01>1NNF1SLumbar stenosis, familials5Myopathy, tubular aggregate, 1 g[- 7 ( ~ < B %]u#-#V,XL _;Parkinson disease 17 9|  4j(Multiple pterygium syndrome, Lethal type<[qs[]) c 2$:J#Brown-Vialetto-Van Laere syndrome 10m %,CDEU -.2]  Z =  %\u##&f(C),,,0P /,Malignant hyperthermia, susceptibility to, 5q0r k"Peroxisome biogenesis disorder 10B y\fqC r "0eGi0 Monilethrix <t , )}` a8Hypogonadotropic hypogonadism 14 with or without anosmia,"2Charcot-Marie-Tooth disease, X-linked recessive, 5m x 7 m,~( Facial spasm&c+Vitreoretinopathy, neovascular inflammatory *j]bwE f!Macular degeneration, early-onset`,.B I.Aromatic L-amino acid decarboxylase deficiency'h8C8  8 F 7  LP"")9_ [[j/ gHyperproinsulinemiaJ R j.Epilepsy, familial focal, with variable foci 3}.}4 _u,Microcephaly-Capillary malformation syndrome*L<GTmq 8]_w  | e &&),P000bcuL eLymphatic malformation 4 "),2]Galactosialidosism  O). oVDevelopmental delay with variable intellectual impairment and behavioral abnormalities2b\fq!M< 8 B Z r | q*4..|8 M Deafness, autosomal recessive 532KLARYNGOMALACIAA2 g ^Hermansky-Pudlak syndrome 7S ,.s G[Joubert syndrome 202SZk <q,578:Li/&$  = d s 7 <\,B.W wCongenital myopathy 20&Q[P 7 Z ? %gku#V$%*+vow|WsX kTownes-Brocks syndrome 2 /Lz Z !g.Deleted in azoospermiap o8Generalized epilepsy with febrile seizures plus, type 10 I E.GENOCHONDROMATOSISvWvZGM1-gangliosidosis, type II$ kVk GK Z q hq!&b*8,0P` qb,Hypervalinemia or hyperleucine-isoleucinemia D j***|| tV-Developmental and epileptic encephalopathy 99!iGIU  P 7  '*Y+Y,1jNQb cVcyo t[Interstitial lung disease 1+. ,1b[xnx|0fN v3NNeurodevelopmental disorder with craniofacial dysmorphism and skeletal defects</U/\qE(4@Mf` Z q u qLp*7*p*.u`.Congenital disorder of glycosylation, type IIc%]&*H E (  ()!*p.y.v2 wG kRetinitis pigmentosa 78c,,xB g-Dyskeratosis congenita, autosomal recessive 6)<  P &z? nDeafness, autosomal dominant 74 N 4"Cerebral cavernous malformations 3> %ab%Alternating hemiplegia of childhood 1 4 H,/ P ]Leber congenital amaurosis 6 &3eu!3/ r}HAmyotrophic lateral sclerosis 26 with or without frontotemporal dementia a 2 M j,K3Mental retardation, X-linked 92E"*S cARetinitis pigmentosa 66 [m 9k o%Spastic ataxia 9, autosomal recessiveC 7 %mX ",|1 Hhhh syndrome e0Combined oxidative phosphorylation deficiency 20N),g- 8  ' *c.1wP8x Tyrosine transaminase deficiency Y [_ j%Aortic aneurysm, familial thoracic 10!)fou 8 Z %Ej,1{ l6Vertebral, cardiac, renal, and limb defects syndrome 2Yzqn k[ y ^ "1N[j*Glomerulopathy with fibronectin deposits 1 S]dp6 [][,9 `Chilblain lupus 2 %,[ nAVertebral anomalies and variable endocrine and T-cell dysfunction(&<Eqz8=h4_jk Z  y j$<$&,NA0lWhite sponge nevus 1 q8Autoinflammation, immune dysregulation, and eosinophiliad5X3M1"|E}}~D&Fructose-1,6-bisphosphatase deficiencyq.8 C'mS `Joubert syndrome 17  s C ./C hEAchromatopsia 7 [eF,xiqVRenal hypodysplasia/aplasia 1]n<q-6) *dd xg\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6Z   ~  %ghij,,vo||#y?Spinal muscular atrophy, type I, with congenital bone fractures [^.2 ^ tp B94GLUT1 deficiency syndrome 1, infantile onset, severe 08C 1 8  l..`Branchiooculofacial syndromeM/hk <[^fmq!8CFd!K r  qpsa!g!o!"%&2&B))F)),;bQ<!White forelock with malformations<_ !'C l]Perrault syndrome 6 Ze (?<Prognathism, mandibular/S\Marshall syndrome.<W[q!5 q | |qV8]..//dkY#. Spinal muscular atrophy, type IV J ^ u ]gue##Z, Y+ENDOCRINE-CEREBROOSTEODYSPLASIA4./>i [qYC3P<G to"-#%&)./v4w~~Z 1u*Hyperinsulinemic hypoglycemia, familial, 339-}%,?Mental retardation, X-linked 95e uBraddock-Carey syndrome 2m8Q u k%Seckel syndrome 10436Wuck    ()S)q.0S||N|`Ankylosing vertebral hyperostosis with tylosisdiffuse idiopathic skeletal hyperostosis, includedT D L*(Rhabdoid tumor predisposition syndrome 1 Ev l<BIntellectual developmental disorder with neuropsychiatric features<?E & "B5Anus, imperforate/m-| e(Morbid obesity and spermatogenic failure6Wuczk 4 E =Z6ACerebral angiopathy, dysphoric#KAnemia, X-linked, with or without neutropenia and/or platelet abnormalities QS  ]_, /gGBoomerang dysplasia  "x(`4Mitochondrial complex III deficiency, nuclear type 19m ,Ctu}g g{ 1 ^  8 S  @$"".ux1Granulosis rubra nasi, @ \Intellectual developmental disorder with short stature, facial anomalies, and speech defects4~]f  C'<|3lMacular dystrophy, X-linkedJ vx?Hypomagnesemia 7, renal, with or without dilated cardiomyopathygyl T U V e %,1xdlby"Neurofibromatosis, familial spinal + Q &&& , f:Bardet-Biedl syndrome 176gk"$s& B 9Q9(0r}Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease ]p3%/!o <Nemaline myopathy 5, Amish type9- p ~ 'N|-Glanzmann thrombastheniaz ' ._.auyza g-Microcephaly 14, primary, autosomal recessive ( *p, q}ULeukoencephalopathy, developmental delay, and episodic neurologic regression syndrome*489@ N  ' / 4 = Usher syndrome, type IIC!OB =p&Abdominal obesity-metabolic syndrome 161h&2@Hemangiomas, cavernous, of face and supraumbilical midline raphe>(E.B pTIntellectual developmental disorder with speech delay, autism, and dysmorphic facies*  /<BqFYMir  q"*n+| w f%Polyendocrine-polyneuropathy syndrome,)4 &8""),. yy+R9Charge-Like syndrome, X-linked /mM `,Oculocerebral syndrome with hypopigmentation  $%Familial cold inflammatory syndrome 1m*Y}  +0Zb7}3Reese retinal dysplasia % s8:Intellectual developmental disorder, autosomal dominant 65/)7BDUW[fqFr   qoj*4*n*0b (z Trichomegaly\/`Wagner vitreoretinopathy !<c*]ww pSIntellectual developmental disorder with short stature and behavioral abnormalities @Uj*p|w (Frontotemporal dementiaa  "@dn3Oliver-Mcfarlane syndrome),6"D578< m " ()*,0!Epiphyseal dysplasia, multiple, 1k ` g ) o"`""&K'A)V)Yxxe [)Cardiomyopathy, familial hypertrophic, 14 cg,-1z}\* HYPERLEXIA0Osteomas of mandibleF aBone marrow failure syndrome 1T{ /4 f!Alpha-Fetoprotein deficiency$ h\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2.NUZ,CDR-HXgy| c B  \h4X&f-dm@ r$Spermatogenic failure 44 "/2Eu>Corneal hypesthesia with retinal abnormalities, sensorineural deafness,unusual facies, persistent ductus arteriosus, and mental retardation<qF;k,+./{8Frontonasal dysplasia 1$<G]q8Md GPu#$%.0auK /Factor IX and factor XI, combined deficiency of.R8 u2Spermatogenic failure 69 ,/z &Immune defect due to absence of thymus`1> 'M{9 g$#Myasthenic syndrome, congenital, 14 Z ? K  ]gk,Nvoa qY-Hypogonadotropic hypogonadism 25 with anosmia 6 \ " jHarel-Yoon syndrome&/[\!5F4igIg Z |  m".1 m0Short-Rib thoracic dysplasia 18 with polydactylyq <[G  gSob 0Bartter syndrome, type 21goyEIP[BVf H T b e ) V B I '+2$Heart, malformation ofgh+Inflammatory bowel disease 1, Crohn disease  ^+c}c mX3Glycosylphosphatidylinositol biosynthesis defect 16 S | \4Arthrogryposis, renal dysfunction, and cholestasis 2 ]pyTq ;i]\ 3 \ ^  '&N mSweeney-Cox syndrome3&<B[]mqz|~)kw ]o!g!#&%&&&)). %Ehlers-Danlos syndrome, Vascular type531fb2o19;< ;EP9Pz&+)/w0ac0c3cLu9yz~~%nW aWeill-Marchesani syndrome 3 R;kjr*x fs-Microcephaly 13, primary, autosomal recessive7T[):Gs&,, wU eH%Polymicrogyria, bilateral perisylvianA  1j ,bMicrophthalmia, syndromic 9. UY}~[qE- ]_djk|)- C hG$8~#1N1iMonophalangy of great toeO O\#Heart-hand syndrome, Slovenian typel ~'uKeutel syndrome&m6K]j1 ik"+&2&'})+e.8,Epileptic encephalopathy, early infantile, 9GIKU & H j*C,bf* tRauch-Steindl syndrome-<BKW[\Fu  qo"&&+,.01( s-Charcot-Marie-Tooth disease, axonal, type 2FFDKk Z x B n  m""#-#C&f,voy|gP0Intellectual developmental disorder, X-linked 77 EJ iThrombocytopenia 6 YQd6.y,F a#*Cataract, autosomal recessive congenital 5 PBrittle cornea syndromem!3<P_^fb Z ]QG Z#Neuroblastoma, susceptibility to, 2 [p(Polysyndactyly with cardiac malformationk<]_'Rg?Hypogonadism, malehypogonadism and testicular atrophy, included/68 cSpermatogenic failure 122?Q brRiboflavin deficiency  8 tTrigonocephaly 1(WFYS | ,BFPsoriasis 1, susceptibility toY b8 ]5 Deafness, autosomal recessive 83~w^Factor V and factor VIII, combined deficiency of, with normal proteinc and protein C inhibitord 5 G'Teratocarcinoma-Derived growth factor 13 mPCoffin-siris syndrome 6-B[\fq M_ U  :j#1u^gGLimb defects, distal transverse, with mental retardation and spasticityTxPancreatitis, hereditary 3 V]> `&Cataract, congenital, cerulean type, 5Q -9Deafness, autosomal dominant nonsyndromic sensorineural 3Od/Micromelic bone dysplasia with cloverleaf skull t Primrose syndromeZ<GQm/357[[fi0G 8 ) 4 'm~nj !]!&+.ulZ2Phosphoenolpyruvate carboxykinase 2, mitochondrialuwG v=Congenital myopathy 18 due to dihydropyridine receptor defectZ Z  'g,.1w2xEsophageal ring, lowerC wCardiomyopathy, dilated, 2Il%,1zH tAnemia, sideroblastic, 5QSo%|k wcNeurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic faciesU &/7<QWfmz!5AF9kW'03  H  A%uj!g%&'G)!)')*,B,./0P0bdduyl<Urbach-Wiethe disease0II 2  ',.[ b c i[[ u:Intellectual developmental disorder, autosomal dominant 66qMG 8 Z  q,0 og0Polymicrogyria with or without vascular-type EDS+?B[F3)fjGN . = 9 ; W )+0abx`| >v&Citrullinemia, type II, neonatal-onsetr{~kq X \ 4 S './x||O=Mental retardation, X-linked, syndromic, Snyder-Robinson type4b/<?BDy IK7X Z | *,&?y+Schwannomatosis * %t%y(>[=Winchester syndrome  Z, vk0Combined oxidative phosphorylation deficiency 56N > g @u ../X8 O Deafness, autosomal recessive 59I R!Episodic kinesigenic dyskinesia 244o dJoubert syndrome 22Y&8M &  s S%/ /Alzheimer disease 5 )RHINY |tKTooth agenesis, selective, 4eQ &L* * M!Platelet signal processing defectQd h VI,Chromosome 16p11.2 deletion syndrome, 593-kb <Q[".@ .B(Diabetes mellitus, insulin-dependent, 153+Y [Waardenburg syndrome, type 4B {L xdNeurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities([Y8@DG  =  "+Y./Nv_zz|| f3Autoimmune disease, multisystem, infantile-onset, 157Xbp 0  %'6s,/+ )))Hereditary motor and sensory neuropathy VR 7 x g ]jmX#C,03 u;Primordial dwarfism-immunodeficiency-lipodystrophy syndrome:Y?Q[q8E5nSis_kwQ`o,-A " ^ S=!g",P,.01xOxl w GDiaphanospondylodysostosis1Ui<[q  7 )-2N | ^  !*djvRyx 3Hypospadias 2, X-linked( 4^,Schinzel-Giedion midface-retraction syndrome>./6;@GH~<IT\qJ-ouz_ G U D |w"#&@&'2+.x}K*hAbducens palsy' (eNanophthalmos 1[XMuscular dystrophy, Becker type ,f + {-C +Deafness, autosomal recessive 9 o!QK b3Melanoma, cutaneous malignant, susceptibility to, 9 - ZL)Cutis laxa, autosomal recessive, type IIB5<EQWqPY^f. U Z TW)+.GWRetinitis pigmentosa, X-linked, and sinorespiratory infections, withor without deafness +eU ^)Acetyl-Coa acetyltransferase-2 deficiency g  xSeckel syndrome 11%?TW[Fkw  ?"&%&*0,.u )#Epilepsy, familial temporal lobe, 1 - P %++++,.*`x qc0Combined oxidative phosphorylation deficiency 43'g  "g"..; sWHIM syndrome 2d,y}BC `Deafness, autosomal dominant 4B%@.Xeroderma pigmentosum, complementation group D8emI - , tGCongenital heart defects, multiple types, 8, with or without heterotaxyQfqAG]_jks  **-;-.1zt|m o-Developmental and epileptic encephalopathy 73KU[i Z | ".` $$Aortic aneurysm, familial thoracic 4ko{ WEj*b/00001P4,Focal facial dermal dysplasia 1, Brauer typeq&,HD ](Cardiomyopathy, familial hypertrophic, 9g < N Deafness, autosomal recessive 28 !o hSenior-Loken syndrome 9Z,`stu"b( w:Intellectual developmental disorder, autosomal dominant 73eHb!?BKfq>F}$([afG  & E Z z u qSN]!g"(8*6+V+,.P0|011buc| Eb l{Birk-Landau-Perez syndrome,SY)F64i H S %o",P,,.0e1Q}4^y (=Spondyloepiphyseal dysplasia tarda with characteristic facies !B _SgArthrogryposis, distal, type 2AN)/*/<WZ[mqE,]KW.5 = Z w |  m.""%)+.00P0a1 o:-Developmental and epileptic encephalopathy 70<q[GH u Z+Y,P t i(Diarrhea 8, secretory sodium, congenital X"*,w}~~~[ ^_Retinitis pigmentosa 60 m*9k:,o3Thyrotoxic periodic paralysis, susceptibility to, 1 DU,q  T = DBothnia retinal dystrophy,`b B**Hyperinsulinemic hypoglycemia, familial, 6 9-} 'Lo2KRadial hypoplasia, triphalangeal thumbs, hypospadias, and maxillarydiastema/ ] v9aNeurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction$U[q(Dfg H  !&f,Br 6Sickle cell anemiaS69hV 0  W i/Anemia, sideroblastic, 3, pyridoxine-refractoryro \ ^ Z, /d0a}=|Myofibromatosis, infantile, 1 )vN. [Brugada syndrome 8-//Homocystinuria-megaloblastic anemia, cbl E typejai Hlp `  'J/XR c"Hypocalcemia, autosomal dominant 2W U B I "vdLanger mesomelic dysplasia[ z h" ]Meier-Gorlin syndrome 2;B ?[yfT  s +!g!.0a9!Preauricular fistulae, congenitals aAutoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia'yD5=N9FHm<   %   #,Nw|I+ 7Molybdenum cofactor deficiency, complementation group B+%<W$; G{ ^ | w '\*+X.&....0N dComplement factor B deficiency*  (,-Pernicious anemiaa m'Fanconi anemia, complementation group S &<8EF$o %,buLG ULong QT syndrome 10 my %,/W t- Dystonia 31U 4 %,/|| gU:Mitochondrial short-chain enoyl-coa hydratase 1 deficiencym 4]g~8g > p )0,P.01[U. _Muscle hypertrophyD n-Spondyloepimetaphyseal dysplasia, Krakow type'<_k3  " S y qS"T"&)V.bvWz r>Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 ,a L j)2RB*Pyloric stenosis, infantile hypertrophic 1 YxX0Interstitial pneumonitis, desquamative, familialp2 > 61DPremature ovarian failure 2Ae  (,. d/Neuronopathy, distal hereditary motor, type IID L B g t]u*e#-#V#py rTvNeurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant&<QqF 89C ~ &f*N01bfbu|GĴReticuloendotheliosis, X-linkedo  ruKaya-Barakat-Masson syndrome   Z e  ""4`x n&8Humerofemoral hypoplasia with radiotibial ray deficiency r~ "&1w*Scott syndromed r [&>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2   u,-$2Spondyloepimetaphyseal dysplasia, sponastrime type./<SaGS  [ ) z ~ | *k!!&"3"")Y.z e:Intellectual developmental disorder, autosomal dominant 26/<B[q>F  Z  'q(*n.01b w]Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development    %0 t8Hypogonadotropic hypogonadism 26 with or without anosmia,/67f Z )+.+=,6,>k mcImmunodeficiency 55-S` /" j*Mental retardation, autosomal recessive 57 @CKN E  "|K <Hypotrichosis 1 =,VlParamyotonia congenita ',  )4.!.2cb qOculopharyngodistal myopathy 2   ,1vo"!nHairy nose tip;[ a7Epilepsy, idiopathic generalized, susceptibility to, 12g3Mitochondrial complex I deficiency, nuclear type 30 .Vc . YWSeizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalanceg%6P[  T e 7 c1>u}C PGaucher disease, atypical]8Qo U H ] J Lo.%0N-!Hairy palms and soles y NAminoacylase 1 deficiency< ,W~ H'.C qLong QT syndrome 16~ @---/&Trichorhinophalangeal syndrome, type I6W[ > Z *k om"'A( (((<)./ur H:Intellectual developmental disorder, autosomal recessive 3 R *p, k7Muscular dystrophy, limb-girdle, autosomal recessive 21+- ]k#",1x~U q-Epileptic encephalopathy, early infantile, 88\: "/N  !Acrofrontofacionasal dysostosis 1/<Q]8A"g&'A,(8Panhypopituitarism, X-linkedGg c.Combined D-2- and L-2-hydroxyglutaric aciduria1)-.G(C.0r0D`[v[} u.Developmental and epileptic encephalopathy 1065A)@  '"0NMPaganini-Miozzo syndrome/EUfqg E ,!g*,.| k)Cutis laxa, autosomal recessive, type IID/6*<EqEmi.]_cgG{ j!&0aNX w&5Congenital myopathy 21 with early respiratory failureg. = >  #,,0Tt FW,Charcot-Marie-Tooth disease, axonal, type 2K x 4 g z mu jXEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1*9Gg  0 H > 8 ^,.0Z011x iD Ophthalmoplegia, familial staticZ& x6Craniometadiaphyseal osteosclerosis with hip dysplasia!<Ui]_k |  ' *,001>^OX r,3Mitochondrial complex IV deficiency, nuclear type 8%hX,bJv} v*Hyperinsulinemic hypoglycemia, familial, 85J_} m 4 j0xL n)Neuropathy, congenital hypomyelinating, 2,E G u Z 4 7 g  m*wb|L dgCandidiasis, familial, 8 %#,/ uBDevelopmental delay, impaired speech, and behavioral abnormalities @  "*C*Y0J*Costocoracoid ligament, congenitally short U5YOcular cicatricial pemphigoid [U*LMNA-related congenital muscular dystrophy%[ u   %\qtu",.|W8^@ Mediosternal depigmentation lineVF*Pigmented paravenous chorioretinal atrophy59] oESpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 39 0 x 0 ]jm#C,, jf&Okur-Chung neurodevelopmental syndrome0<[qz@f[ 8 Z  qj&'G*8*C.bI|B Z&Choroidal dystrophy, central areolar 2e1Blepharophimosis, epicanthus inversus, and ptosis z8EEZ    DrSpinocerebellar ataxia 198C~ \ %]+, q Z  N$!*+c0Z000 coCardiofaciocutaneous syndrome 3]_gj Z}?#Peroneus tertius muscle, absence of #C[ =?Abdominal obesity-metabolic syndrome quantitative trait locus 261 s\YOnychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome[:@_ A u | K &*p/1 yU ?Dupuytren contracture 1 \/% t0Combined oxidative phosphorylation deficiency 54-4</9qg 2 Z  BlM!Q,P./*0Yc>x~.G.'Asthma, short stature, and elevated iga3 q#)Bile acid synthesis defect, congenital, 2w~ X ^ S 'Frontometaphyseal dysplasia6H~3<KPmS8bp) Z q ) k ?(BW #,%&((C; x Otosclerosis 11j%!Q,@Ulnar hypoplasia !%B"Spinal muscular atrophy, segmental#M#{ q3Mitochondrial complex I deficiency, nuclear type 34 8 ".0g `b9Rigidity and multifocal seizure syndrome, lethal neonatal$[C~8Ky{  '\h"*c.0,yX`Stromme syndrome!~<[q8ad()  ~ s1(2)u YT)Agammaglobulinemia 6, autosomal recessive   " P*+e VV u \u*#4Rhabdomyosarcoma 2, alveolar{l 1t0Pelvic dysplasia - arthrogryposis of lower limbs  Z z kq2^3 AoMuscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5-',+G . 7 Z > B 'u#).ucvoW| /b(Muscular dystrophy, limb-girdle, type 2G ""##"#%#A#C#V#]B *SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL: B&Pulmonary disease, chronic obstructiven n,Diarrhea 10, protein-losing enteropathy typegn[qM5k U V e m 'X./ ISpinocerebellar ataxia 25 =m Z 4  , l-Epileptic encephalopathy, early infantile, 56fIUX ) 1 B X Z j"B+ wGMegalencephalic leukoencephalopathy with subcortical cysts 4, remitting4U  f[MC(+Scoliosis, idiopathic, susceptibility to, 1 Zk `#Coenzyme Q10 deficiency, primary, 3]d'g '.A`72Symphalangism, c. s. Lewis type%H=>(Ichthyosis, lamellar, autosomal dominant7v >Spinocerebellar ataxia with rigidity and peripheral neuropathy  L i2Retinitis pigmentosa and erythrocytic microcytosis!QQZo%]_*9, ,adldmwAw}qo [HPorphyria variegataq [ &f(,/1 m Keratoconus 93%Q bArthrogryposis, distal, type 5D;7[^8 Z  9C0a0u1_ dCiliary dyskinesia, primary, 23 > Su+d/z  BBrachydactyly, type A4\|$%i# oAContractures, pterygia, and variable skeletal fusions syndrome 1B [ Z  & uW? mErythrocytosis, familial, 5klml j;Short-Rib thoracic dysplasia 16 with or without polydactyly" %\q<2 l &K&b&'A'(B).0}NJ"Albinism, oculocutaneous, type III5dCarotenemia, familial)d I0Spondylocostal dysostosis 2, autosomal recessive + y ^ $X MACROGLOSSIA w/Congenital disorder of glycosylation, type IIaaz~stw] 5 4 S -..|=O!Complement component 2 deficiency Pelizaeus-Merzbacher disease1 m49/ Xx 4 9 ' Z e ]Xb,e ,Hypophosphatemic rickets, X-linked recessiveSruydf ] g 60)1Nz{ ^Hermansky-Pudlak syndrome 5SQ  %'F2; JPremature ovarian failure 3 e y .)Phosphoglycerate dehydrogenase deficiencyQa b",q ^Spinocerebellar ataxia 35C   ]p*On xMicrophthalmia/coloboma 1178Lde FV!3*l KHDandy-Walker malformation with occipital cephalocele, autosomal dominantv? dImmunodeficiency 16T %v5 _zBarrett esophagus,T5Neuropathy, hereditary sensory and autonomic, type II- 2 e 4 x ]$@"&+&fH t,Bryant-Li-Bhoj neurodevelopmental syndrome 1C!&/<?UW[\fqF(M[fA_oGHr H  *4+,(.00b|` w$Variegate porphyria, childhood-onset  P 'w$'A*,/ /[ iڽMucolipidosis III gamma!kr{ Z ) 5  * %O!iy\ Paroxysmal extreme pain disorder xq~'z4z Y Z%+ )Schizophrenia 3 vMNeurodevelopmental disorder with microcephaly, hypotonia, and absent language m@ j*pv GD&Neutrophilic dermatosis, acute febrilelo *+,.0clx?c,3Arthrogryposis multiplex congenita, Neurogenic type ~ wR vnNeurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum5<BQW[mFP:C  Z ~ |  !g+,01= hAu-Kline syndromeGL~ UJ}6@MSiW5MG 8 q r | D ^qZo/j!g(9*.1N2 cdGu1w= iHeterotaxy, visceral, 5 GIY)]_ks   # Gj('(A*--#-.Uzt{MF o"Amelogenesis imperfecta, type IIIC#+LK/Glycinuria with or without oxalate urolithiasis $! (Q'Sacral defect with anterior meningocele ` Z h}&>(A/Nbws -Cardiomyopathy, dilated, 1Dclmy  %,,1xw[JGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE   %h2GCharge syndrome],26BUYh~<AD[qz8Md578=\P]_djk`[  ? Z U y G !g"%T&2()),u,,..x  UfXq21 deletion syndromemms,m #N #Lenz-Majewski hyperostotic dwarfism<)//<Q[u f GH & y eM&s):)+ wW7Muscular dystrophy, limb-girdle, autosomal recessive 28&#-2 S   %gu*##"#%#)j,/bPu||B>BS nUsher syndrome, type IV "Qm9wAwX,Restless legs syndrome, susceptibility to, 18 8 I#00Myopathy, X-linked, with postural muscle atrophyg- Z  Z \kuxg,-9Mental retardation, x-linked syndromic, Christianson type(/>Z @[  8 / u '*p+1 tOZEpidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive m  L Glutamate monosodium sensitivity. z4K uDeafness, autosomal dominant 82h  %,Q!Opticocochleodentate degenerationm<@  tVNeurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalitiesI")/Jh}~<Efq%f]_k-` Z 6 u | qj!3!g$$&2(./0u;|| uPImmunodeficiency 107, susceptibility to invasive staphylococcus aureus infection %+|clz<FLPolycystic kidneys Sq6buuK ]Cataract 16, multiple types,[v *o g#Myasthenic syndrome, congenital, 18 S )!|07Phosphoenolpyruvate carboxykinase deficiency, cytosolicuw 8 1 g 8 Z  Gy|[q e-Epileptic encephalopathy, early infantile, 21   "*B+.01y o (Fatal familial insomnia8 8 0,^ -^*Rhizomelic dysplasia, Patterson-Lowry type  7"'A)L eSpermatogenic failure 14  (,uvy@1$Double nail for fifth toeuw L;Syndactyly, mesoaxial synostotic, with phalangeal reduction  q ##%`%'P:#Gout, hprt-relatedS>e M Ju;Stomatin-deficient cryohydrocytosis with neurologic defects @CVi \ '^=.bx x.Developmental and epileptic encephalopathy 114(<A4< GU 8 H P f!K&)')*C,0lG H#Platelet glycoprotein IV deficiencyQdn  J-Congenital disorder of glycosylation, type IE1<?[O 9k2t 1 [ ^  :=\]lB&`,P0a` wM!Glycogen storage disease 0, liverg Z.w q|#Epilepsy, progressive myoclonic, 11 (8C H *pc|Y%Diarrhea 2, with microvillous atrophy '!+, r1Proteasome-associated autoinflammatory syndrome 4[bW  #h*03 5w(Muscular dystrophy, limb-girdle, type 1E[. ? ]#V),g e=Polyglucosan body myopathy 1 with or without immunodeficiency)L,stcflo Z  ^   '\u ~@`4(Melanoma, malignant familial intraocular$I qSilver-Russell syndrome 4E "+q8%Onychotrichodysplasia and neutropenia> S %&* B{!Mental retardation, X-linked 91@$r |$u wO ZAntithrombin III deficiency  ACb"V&Ectodermal dysplasia with adrenal cyst2t se9Hemolytic anemia due to glutathione synthetase deficiencyV B76Aganglionosis, total intestinaly T"Pontocerebellar hypoplasia, type 6*U ()@C  8Hg u \J "...011W \e,Epileptic encephalopathy, early infantile, 5 C H e *p 83dTRACHEOBRONCHOMEGALY>m;Vocal cord paralysis and ptosisEY 85Breast-Ovarian cancer, familial, susceptibility to, 1  8RBladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT  /L~1Pvw aCiliary dyskinesia, primary, 18 S  'u+d/////0`{M  aZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 8)G \%{ nHyperekplexia 48C[ > \4/'0a0&Woronets trait;RCorneal dystrophy, Central typekd$Pyruvate dehydrogenase E2 deficiency'4CD  p 8 1./ NM f:Intellectual developmental disorder, autosomal dominant 30<F  1nt &Myotonia congenita, autosomal dominant, %)4,2cddl/G4Koilonychia, hereditary>&Chromosome Xq26.3 duplication syndromebMf   M )',0Ybv=!q q)Immunodeficiency 72 with autoinflammation>  0}} j\Bone marrow failure syndrome 3;<[mz!,^fQSTo{ '% %,..zL^ dNephrotic syndrome, type 9 ]`a  %\,,1, _0Neurodegeneration with brain iron accumulation 4)49C > %\kmZX,,/f< lSpermatogenic failure 22 ,.x uKNeurodevelopmental disorder with speech delay and variable ocular anomalies/<?mq E xO} Exudative vitreoretinopathy 1 5j{  ]- awwz k.Hyperphenylalaninemia, MILD, non-bh4-deficient 4X j")9? B'Pancreatic cancer, susceptibility to, 1EeN)Coloboma of macula and skeletal anomalies T\ q )# H:Mandibulofacial dysostosis with ptosis, autosomal dominant[%&0ac ]ACardiomyopathy, dilated, 1Vcl --1xdnb Dent disease 2rydf 6 ,N,1Nc[||H y&Spermatogenic failure 91 ,//qTReifenstein syndrome %036 2INF*Blepharoptosis, myopia, and ectopia lentis!;x"pEllis-Van creveld syndrome'/x_&t ) 2 M""(--< t}Spermatogenic failure 59 ,.y> nlbIntellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities<W!X 3  .1{9|H E5 Corneal dystrophy, Avellino type}%,E0Liddle syndrome 1 S6 T %, u$Myopathy, congenital, nonprogressiveLW_kw S ^ ?'=..voR.Hutterite cerebroosteonephrodysplasia syndromed"*pS X7Focal segmental glomerulosclerosis 4, susceptibility toa*|Keipert syndrome<qf  &l'G+,(.0auPk~Q-GN ^ 8',,,bo hJoubert syndrome 24)@C&N  mv!Glycogen storage disease type IXb,e #[,[[TOrotic aciduria]_ _;, }A nZ%Epilepsy, familial adult myoclonic, 6 n m:Intellectual developmental disorder, autosomal dominant 69 @  j A,Charcot-Marie-Tooth disease, axonal, type 2F L x 0 B g c"#C#0gdn!; cmCataract 19, multiple typesd dOtofaciocervical syndrome 2k 4qz P &ksuw URv*Anemia, hemolytic, Rh-null, Regulator typeV^~ Zb ub2Cholestasis, progressive familial intrahepatic, 11 /|| ]bNHemorrhagic destruction of the brain, subependymal calcification,and cataractsV8 )C]G lu 8Spinocerebellar ataxia 12=CH ) * (H"Microphthalmia with limb anomalies.fq8E&9< | M"$)+-11yVitreoretinochoroidopathy'8Dj1k)wx IsAmyotrophic lateral sclerosis 8~ L B muX,z u(2Epidermolysis bullosa, junctional 5A, intermediate   !NK YHypotrichosis 5 l<= T40Intellectual developmental disorder, X-linked 88]TDoors syndrome7h&<UWmqj  ]_k  G \q!$&*0r f0Inflammatory skin and bowel disease, neonatal, 26 Xb b gX 3$Macular degeneration, age-related, 1 `,1ccw#{yB l"Amelogenesis imperfecta, type IIIB .t.Eosinophilic fasciitis$sMYOSITISu6tNipples, supernumeraryM d<,Erythroleukemia, familial, susceptibility to Qou/dv >Glycine encephalopathy 8Cj $f{ .;Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome 8^? =Deafness, autosomal dominant 25 j>)Lethal congenital contracture syndrome 10 W[q u]h) ?  )=bwGeroderma osteodysplasticum$/<G; U c X 0aFe;%Immunodeficiency 118, mycobacteriosis   ,NvNwt x8Generalized epilepsy with febrile seizures plus, type 12  E+,bf? ?tRetinitis pigmentosa 28m9N=Cutaneous mastocytosis, conductive hearing loss, and microtia[F Zq!g#,.. ZRHadziselimovic syndrome Y&fqY )@T]_d G*6p Fucosidosis@<mq>,4D[h  H Z q z e tM ()+/#/ m#Leukodystrophy, hypomyelinating, 15&<4   H o e  %\X) ,.U _Stickler syndrome, type V K]*,._ aCiliary dyskinesia, primary, 17 s> +e//1J mG:Intellectual developmental disorder, autosomal dominant 54@KTU51@ES 8 8 H P u  C  ,"*C+,..0b4}I!Spermatogenic failure, X-linked 2 ,y>{ feCiliary dyskinesia, primary, 30]s-3> u+e//1  0@Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia$;N,49 Z x  4 ; %m,\ h,B-cell expansion with NFKB and T-cell anergy "BG FHypotrichosis 6  N* f\Adams-Oliver syndrome 5!jw , bv"wĝ'Scapuloperoneal spinal muscular atrophy!iI0-X Z x ? 2kq "#Y#d#g#(C)-u wOv+Ichthyosis, split hairs, and amino aciduria; +Raynaud diseasexA s Anencephaly 2   #(1.1 iMeier-Gorlin syndrome 6,;4\fm78iA<1 | +!g&..00 LCongenital myopathy 230 E Z ~ ?  %gjku",0ZucvzV|X50Brachydactyly, type D%']* iaNHypotonia, infantile, with psychomotor retardation and characteristic facies 23)?BEQ\fq5 @M  Z +,P.0e14XBasal cell nevus syndrome4/<8d| x n Z o E y IV %&&'<()k)q)r)t)y)zb U wNeurooculorenal syndrome1z!Q[A(7: GbswGN j  \ h o"'2'}*--. /N1Pdd8vHepatocellular carcinomaz{oMental retardation, X-linked 215/<FfK & |&*4f40Gilbert syndromew ^ Zt q$Immunodeficiency 69, mycobacteriosisTfo  /|NvNwH J`$Orofacial cleft 6, susceptibility to* r,Microcephaly 26, primary, autosomal dominant)~3<UWF}@wG E Z | M"&*8+./00w|`(e$DIASTEMATOMYELIA+ Amyotonia congenita C.Horner syndrome, congenitalL  Hk'Chromosome 22q11.2 duplication syndrome<[qy 0Kw j<-Epileptic encephalopathy, early infantile, 38,4U H  !3"1y ? \Deafness, autosomal dominant 51m\dnk ,?Porencephaly, cerebellar hypoplasia, and internal malformations)_dT  XuWAGRO syndrome"]/U[q6  k ")!12y k]Congenital heart defects, dysmorphic facial features, and intellectual developmental disorderC <?BDdfq>EFMf]_Ir Z e:)(.P.0a1bu|2Ehlers-Danlos syndrome, spondylodysplastic type, 15<Q[qP~3 S[]f Z q IcW-),,,N.0P: j Aniridia 2dl M U%Bestrophinopathy, autosomal recessive*/ Q CBrachydactyly, type A1, B $$&'?'u0chMetatarsus varus, type I0^ _2Colorectal cancer, hereditary nonpolyposis, type 5 N </RP cCardiomyopathy, dilated, 1II lu  1yq4@Co ]   *p,04=Nathalie syndromewm + qt]Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline4y 1 E / 4 rSpermatogenic failure 53 2 *5Scid, autosomal recessive, T-Negative/b-Positive type`* C  N^z-?mMeier-Gorlin syndrome 1F16;@G[mqxEs[f W12 T q ) y  s q+b!g!"%):*0a01 wϺ0Spondyloepimetaphyseal dysplasia, Strudwick type! Z [ ) e / "T".Tu t*Marbach-Schaaf neurodevelopmental syndrome'7Uf5FY'9M 6  j)+Z1}= O@Paragangliomas 1EIq  P 0 F  %;Q\!,uz:"Polysaccharide, storage of unusual+ J8Bifid nose with or without anorectal and renal anomalieshzBfq>: (L.k \XRetinitis pigmentosa 51M`e9 (*,8 Glaucoma, primary open angle!/Lw@+Diabetes and deafness, maternally inherited "Dmf  Z J#Ataxia, sensory, autosomal dominant% 7 c Q  2*w0&Mt LENTIGINES0ִCommissural lip pits s sBNeurodevelopmental disorder with hypotonia and brain abnormalitiesS%&/<BW[fq,5>Y):@M^_ j qo &%&*n*+.../N02bIl{ LNemaline myopathy 1E[- Z %u"#]3(Anosmia for isobutyric acid): mOocyte maturation defect 4 ,{W i+Striatal degeneration, autosomal dominant 2`* nqKMicrocephaly, growth restriction, and increased sister chromatid exchange 2l #*,Nbw oS0Myasthenic syndrome, congenital, 25, presynaptic[f u Z ~ K 't.bgS .vRetinitis pigmentosa 19 m*9 Hf,Myopathy, myosin storage, autosomal dominant,g ~ ]gkqx{#V#_,s _6#Myasthenic syndrome, congenital, 16 8 < K  %vZRetinitis pigmentosa 3 'em 9*,wA - FBrachycephaly, deafness, cataract, microstomia, and mental retardation*.1<WfmqJ .  Z s |!g0P0aS^ T$2Myoclonic epilepsy, juvenile, susceptibility to, 4IK E X%L d$Developmental dysplasia of the hip 2Yi q"xv)!D-bifunctional protein deficiency>k <W[\mq&<F'tuGN{  ^ 'b "xOk> B&Insulinoma tumor suppressor gene locus/3 R>Vesicoureteral reflux 2LYG wThrombocytopenia 10 Qd 6m=Brachydactyly-Ectrodactyly with fibular aplasia or hypoplasia/ \&K~ i"Chromosome 15q14 deletion syndrome3B\fq]_ & *4ALeigh syndrome#DZ 4C|-g{ > 8 \,b s2Hemolytic disease of fetus and newborn, RH-induced?dGdL2 V$Brugada syndrome 4/?5Biemond syndrome IId23 *^Varicella, severe recurrent4J \Von willebrand disease, type 2QeLysinuric protein intolerance*,QZo-g  +u/| Y'Leukocyte adhesion deficiency, type III-Pdo  *0Iǚ)Anemia, sideroblastic, autosomal dominantUf h#"Infantile liver failure syndrome 2 f ^ KMicrophthalmia, syndromic 2H/Wfz8<>AEd5N[]_bjkrs< Z SM5 'G)+=+R0 l uvo"JMental retardation and microcephaly with pontine and cerebellar hypoplasia2,<?W[maB),@CM & = Z |""&./Nb|II-Pelvic lipomatosis with crossed renal ectopiaVR3*Hypothyroidism, congenital, nongoitrous, 15U m fy pAMitochondrial complex V (ATP synthase) deficiency, nuclear type 6 ZCg Hz \ Fanconi renotubular syndrome 2S]rudf ] ]  ],/ze€Letterer-Siwe diseaseQSo.A ((w sJoubert syndrome 38fq58( s +-0vF /Speech-language disorder-1V A,: r:Neurofacioskeletal syndrome with or without renal agenesis<Hz3<UfqFsun Z )  "&l&&&'(**+..0M w`)Auditory neuropathy, autosomal dominant 2%\ QTWPalmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal/>k 4  !".>/V2=ax z 8FPatent ductus arteriosus and bicuspid aortic valve with hand anomalies ko'q$'?rw"Faciocardiomelic dysplasia, lethal[[ $%&2wNj6Hemolytic anemia with thermal sensitivity of red cells FMicrophthalmia, syndromic 6=.YD[\fmq!,8Mj5>C`x)@MGHq[%&()**.Q !Pulmonary alveolar microlithiasis+%]rx,,xAcromicric dysplasia7W0I  &K'A)St d$Hypobetalipoproteinemia, familial, 1"#k J  )||$ olHypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities*/!A  Z )  )'+++/ 0|`;&Rickets, vitamin D-resistant, type IIA/mcv} d ] g " S ] 'r]#?)zo f/Macular dystrophy with central cone involvement [ J*,dnwK edRetinitis pigmentosa 69 &Dm% x6Neutropenia, severe congenital, 11, autosomal dominantY"QSo*e  &=+c+d+f.0}}~+F k5Gastric lymphoma, primary  Omodysplasia 1$W[E$a]_ |?h"`""&/K0PVEXAS syndrome, somaticYQsA A /  +s+/90Zuiuz{{d c oI uiNeurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures47[qJa[Ay  ,| 6 r 'Mj""(C)(.0a0e1 oc_Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 1   l"l ZW3Leukoencephalopathy, cystic, without megalencephaly'4G  0  ],P,O =gParkinson disease 4   ^.0,lsMicrophthalmia, syndromic 13578d / h#Epilepsy, progressive myoclonic, 108CK \. /G=Lymphedema, cardiac septal defects, and characteristic facies"7\F]_k ?*+ pACerebellar atrophy with seizures and variable developmental delay1 @  '"1 +FTetra-Amelia with ectodermal dysplasia and lacrimal duct abnormalitiesFD so oImmunodeficiency 60T>A  "1gv|@}1BOsteoma of middle earV-Emery-Dreifuss muscular dystrophy 1, X-linkedm ~ %],-.byFanconi-Bickel syndrome%]|~df T X ] g  % S Z  ',3"../0czx||r2Respiratory distress syndrome in premature infants V.2 S O Fragile X tremor/ataxia syndrome$*m"5 ~  ) 2 / b "B&f{ y-El Hayek-Chahrour neurodevelopmental syndrome#<?[qs@]_qS:)!./HB: _Meckel syndrome, type 10/6ky)&%  s%,0a(Trichothiodystrophy 5, nonphotosensitive"6/\,ag)X "yl<~Radial aplasia, X-linked  wFliedner-Zweier syndrome(z~Wf]o`  Z  ,.0NM|l ]4Rubinstein-Taybi syndrome 20[fq>M   Z  !K&%'G'y+O+V,(..3 aImmunodeficiency 29  Nv OlOMental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 6, & "0Breast, unilateral giantU9V-Ulnar agenesis and endocardial fibroelastosis$I ]Cone-rod dystrophy 15 'em*[Schizophrenia 1Vh<]"",S?/Cerebellar ataxia, benign, with thermoanalgesia w*MP J(4Transposition of the great arteries, dextro-looped 1 lKEncephalopathy, progressive, early-onset, with brain atrophy and spasticity m)48GH H Z  \"&+Y,P./N01`p pDDMicroangiopathy and leukoencephalopathy, pontine, autosomal dominant| ,x6 lOocyte maturation defect 3 ,~ v&Lacrimoauriculodentodigital syndrome-3mz 15D !g&2&.[ s#Ventriculomegaly and arthrogryposis [)G ,f S#:Intellectual developmental disorder, autosomal recessive 4F07 @Deafness, autosomal dominant 30 h[]Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay*|EP,9Crg.g ;  8 'hrS &f,...0` \@Disordered steroidogenesis due to cytochrome P450 oxidoreductase> R BJAlopecia universalis congenita1 ' DBartter syndrome, type 3gyObIP[ 7 T b 7  %n,PPityriasis rubra pilaris   bc} 8qAMitochondrial complex V (ATP synthase) deficiency, nuclear type 1Y[[.g  @M, ,P.0a i(Trichothiodystrophy 6, nonphotosensitive5X & w q X!"*a rQNeurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism(&3BQWq@  0 8 ,&*4+bb k'Fanconi anemia, complementation group R}8o` Z !&1|T x Bleeding disorder, vascular-type ,x _7@Nephrotic syndrome, type 5, with or without ocular abnormalitiesS]acd!8Da6P  %,1z"FFCleft palate, isolated[#+V} Z>9Hemolytic uremic syndrome, atypical, susceptibility to, 6 ]6Qo B -FK*&Cleft-Limb-Heart malformation syndrome|~ W*2Epidermolysis bullosa simplex with pyloric atresia![/!g, Y74Bangstad syndrome?UBT   bv*Spastic paraplegia 56, autosomal recessive4W [  %,uc|9 ) Parc syndrome41< ZGlycogen storage disease IXcrgk ^ 8 Z %",[_ aAdams-Oliver syndrome 3! S &)*.15 PGlaucoma 1, open angle, Mm/L~hBrachydactyly, type B16] y %&k'):,(0aZ N*Hyperinsulinemic hypoglycemia, familial, 49-}'.k g #Myasthenic syndrome, congenital, 228, ; u*4.vH ZCone dystrophy 4 $e,wxi8Osteogenesis imperfecta, type IjmPfib U c  N[ ]>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 z ? B,u^Zv46,xy sex reversal 4 ;Jn~W[F/ B !g!/ qz/Chromosome 17q11.2 duplication syndrome, 1.4-Mb/5dDbN(8,,0fMilia, multiple eruptive }!]Spastic paraplegia 17C v~ @ A b c g %]m FO0Hypotrichosis-lymphedema-telangiectasia syndrome"1<=  ,' -Ribbing disease <~Polymyoclonus, infantile8 i.Spinocerebellar ataxia, autosomal recessive 219Csw 7 x I ,24b l)Mental retardation, autosomal dominant 47'f] Z  '*. _i*Mental retardation, autosomal recessive 184@]_ 1 8  v",./Ng>CWoolly hair, hypotrichosis, everted lower lip, and outstanding earsM!Hydrocephalus, normal pressure, 1 ' /^&Paroxysmal nonkinesigenic dyskinesia 1  k , [TBMuscular dystrophy, congenital, due to integrin alpha-7 deficiency, Z ?  1O fwEpisodic ataxia, type 8 ,F S k`: dAmyloidosis, cutaneous bullous+.Goiter, multinodular 2b ,!Neurofibromatosis-Noonan syndrome&<fq+,0jr Z &&& .0udS NyRetinitis pigmentosa 32 "&De9w l~'Mosaic variegated aneuploidy syndrome 3Uq k  , X dXInclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 S ~  g#"#?#C,Shukla-Vernon syndrome<\AX  j*p2 f >Wrinkly skin syndrome94<?WqP^f.KM U Z  X k/]#,-g.xO ZCapillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth ;1zR ,:Deafness, autosomal dominant nonsyndromic sensorineural 10 >q1Myasthenic syndrome, congenital, 4A, slow-channelU L2 8 B ~ < E J K 'j"W hImmunodeficiency 44 `g " ,Nx{| B r-4Mitochondrial complex IV deficiency, nuclear type 10Y8Ygg S g,m :)Osteoarthritis with mild chondrodysplasia k %",0uY o7;Intellectual developmental disorder, autosomal recessive 67fM@ 8 H *  'b| fBMegalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3@KGN *p+.LLeiomyoma, uterine g 2?Amyloidosis of gingiva and conjunctiva, with mental retardationjO+2+Progeroid short stature with pigmented nevi)/<37WTor  yM;  h&Acrofacial dysostosis, Cincinnati typeh~<DGQ[mq>F|}#8RSAE]kow G H U j Z  | D  'q?IN!g!"g#&&*C+,B,N,,,-1-9-w./01vcX  ABX8Dementia/parkinsonism with non-alzheimer amyloid plaques. o#Leukodystrophy, hypomyelinating, 184@[ Z \l,P,.,Developmental and epileptic encephalopathy 2!Q1 8K H Z C *]+0y` w H b(Colorectal cancer, susceptibility to, 12 x  3Giant neutrophil leukocytesO bCiliary dyskinesia, primary, 20]rs,9>'?+d-//z z O`'Corneal dystrophy, fuchs endothelial, 1k///uʂ!Manitoba oculotrichoanal syndrome<8Cqf  %Q[z QJoubert syndrome 6Z"7j(s = d sE.WF ([*Hirschsprung disease, susceptibility to, 2 W+Triphalangeal thumb-polysyndactyly syndrome ,( 1Marshall-Smith syndromevb  4BEQ\mq!>JPa6o)3DSi A]_k ,48G  % & U Z 6 ~   p | V'q8!A!"&E&u&(C**+...0|Y5Prolactin deficiency with obesity and enlarged testes5 > -Cataract 3, multiple types())F@&Gastritis, familial giant hypertrophic 9 ~'Ehlers-Danlos syndrome, classic type, 213^f9 +da|}; FjHand osteoarthritisk RYD dt Deafness, autosomal recessive 76  ,@ \Aromatase deficiency/ (GCarnitine palmitoyltransferase II deficiency, myopathic, stress-induced S, a B ,, hExudative vitreoretinopathy 6!{  %'o,- NMwMultiple endocrine neoplasia 1MVf M Q . .o @ E%/vx v#Cardiac valvular dysplasia 2jo{ ?j8<(,bPu{A n Z z Zq%+& &4&5&7&9&<0XT1 ,Thyroid hormonogenesis, genetic defect in, 3U J 1O\Immunodeficiency 33  "  N~Rj2Mitochondrial complex I deficiency, nuclear type 1D/KFj1r,Cwg-8 0 H o u > j 8   @$%5"../14 Qv/Combined oxidative phosphorylation deficiency 4'Ng H o > 8 1 BCarney-Stratakis syndrome lwCSplit-Hand with congenital nystagmus, fundal changes, and cataracts /~ w[*Spastic paraplegia 89, autosomal recessive  E H [ ",CCardiomyopathy, dilated, 3Bl %} pn#Pontocerebellar hypoplasia, type 13(<B ($3Ur ,)',P./Nbc`E!Glaucoma 3, primary congenital, A- iFHEosinophilia, familialQXoA z[Sv;Hypouricemia, familial renal, due to tubular hypersecretion +Acrofacial dysostosis syndrome of rodriguez<B[fqn5 h/uOrofaciodigital syndrome V0U/<Dmq>L]d&< Z qD(8(9..11NMbfW1ACTH-independent macronodular adrenal hyperplasia76)+ h h .   'b i2Split-Foot malformation with mesoaxial polydactyly/ T)] (C1Epilepsy, childhood absence, susceptibility to, 1I E X*a,`Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1#4a M T z ~ Z  jkmtu"##q))0dnxvoD `UTrigonocephaly 2 <,B!Renal cysts and diabetes syndrome# /JMNY]kz-38He " ^  (,//vyN[a/<5Ataxia with myoclonic epilepsy and presenile dementia8KT eHypotrichosis 12 = ,_ ? q_Immunodeficiency 66-v- gA= R!Deafness, autosomal recessive, 24 ,oAmyotrophic lateral sclerosis 1,C L ^ B p)'f .Vacuolar neuromyopathyR gk#CK e#Epilepsy, familial temporal lobe, 6U - E P* oMirror movements 476 VHypouricemia, renal, 2 Q D.)Osteofibrous dysplasia, susceptibility to l0Dyssegmental dysplasia, Silverman-Handmaker type[f#R %)- ? W"0P:tSulfhemoglobinemia, congenitalOHemochromatosis, type 1,"3rz<cfh ^ |-c h ;Intellectual developmental disorder, autosomal recessive 50L, O;Diabetes mellitus, neonatal, with congenital hypothyroidism'kqWq-3S?st " m 'Z/Sc#cv{ *3Hypertryptophanemia<!a & H !'bOYC~Talonavicular coalition q#'}b: -Prostate cancer, hereditary, 1 /] ^B>Frontotemporal dementia and/or amyotrophic lateral sclerosis 6,D  > L > t  j#"#%,7 @ Thyroid cancer, nonmedullary, 3yV5Craniosynostosis-Mental retardation-clefting syndrome nQ7S&X&]m 5Absent eyebrows and eyelashes with mental retardation 1$ |&Multiple endocrine neoplasia, type IIA6K j 1 Q .  7,...c,~Z nRMicrocephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome#6>z<U[qF ;]_k5 )=)* \'Chromosome 2p12-p11.2 deletion syndrome$BT[fqEQ  "'"$&.Y _QWarburg micro syndrome 2$.6;&8@[5HN | l"")*p,P.\@,Microcephaly, primary autosomal recessive, 1 { ,d@Calcific aortic disease with immunologic abnormalities, familialr{). *7Enuresis, nocturnal, 1) ji-Epileptic encephalopathy, early infantile, 4018H '".1S qo%Retinal dystrophy with leukodystrophyY/ ? eu&uC 6(+Prostate cancer/brain cancer susceptibility/] ?fPropionic acidemia%4fQSTo 8j $ 8 ,""-AqPolycythemia vera>Qfjkls M O dm r/4Mitochondrial complex IV deficiency, nuclear type 12$ 8Ugy u Z  8   )0,.c=x` r,Microcephaly 27, primary, autosomal dominant6f0G  q$&,00u[| s&#Pontocerebellar hypoplasia, type 15)4:DQo = &*n*p00Bi x1Cardiomyopathy, familial hypertrophic, 30, atrial 6 1xz?[3[5oK7Cataract, ataxia, short stature, and mental retardation  ,~k uHNeurodevelopmental disorder with central hypotonia and dysmorphic facies&~<}@^k 8G  8 Z  ',.0|,NChiari malformation type II    n Dj.0v#Lissencephaly, X-linked, 16; ""| f#Pontocerebellar hypoplasia, type 1Cm(,C-H >  e.X| q &1w- PTesticular microlithiasis/ g*Lissencephaly 7 with cerebellar hypoplasia%&[^);g *c.|T wDystonia 22, adult-onset   78\Hypertension, essentialElAParana hard-skin syndrome-" o 3Mitochondrial complex I deficiency, nuclear type 33+/ )S-8>GUg ( 8  "&,.../ t.Usmani-Riazuddin syndrome, autosomal recessive<PfqfxCCAMPTOBRACHYDACTYLY'Pl'Lipodystrophy, familial partial, type 2#76?Juk =  4 %3Z"#"##!#*#,,1e ASpinocerebellar ataxia 15';9C Xx~ ) f  %]\+ V,1{4 D[Duane-Radial ray syndrome7LUYh~<D8dkz]_< 9 Z hV!#&#8%&1&2&'@)MW~Macrocephaly, benign familial WGFP&0Sucrosuria, hiatus hernia and mental retardationk -;Mental retardation, microcephaly, epilepsy, and coarse face Z h [Hemochromatosis, type 2Berscfo ^ |,0 M)Spastic paraplegia 29, autosomal dominant C y JtLCraniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus(Z{,Myopathy, X-linked, with excessive autophagy'[Z- Z ~ ? ]"#"#V,du4 .(Premature aging syndrome, Penttinen type?<G[8JYs{0 U Z m  | '{G&o&))+)B*,..5/1X^ d _dLeukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism(,!49C & o e X*,n 4Dermatitis, atopic3-3 y+0}% o`}Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency&/6[fq8 Z u  %' 4!g!,.//u(e Char syndrome<BQq>k q$b8 VhLymphatic malformation 2,0Deafness, dystonia, and cerebral hypomyelination4  X*p Galactosemia/ rV '6 ...10||AAAA= ~ m.Epilepsy, familial focal, with variable foci 4 P'j+,0,NH O Deafness, autosomal recessive 67J !c/Surfactant metabolism dysfunction, pulmonary, 4 + ub[~U~V[ /7Arrhythmogenic right ventricular dysplasia, familial, 3 D - oU3Lissencephaly 9 with complex brainstem malformation&<q(;@] = P %*p,./N0b bv_|e`9!Coracoclavicular joint, anomalousW iBCerebellar atrophy, visual impairment, and psychomotor retardation%&<B[!5 4  Z\l"3"0`CAfibrinogenemia, congenitalhypofibrinogenemia, congenital, includedd  ,,.l.|/uHn#Otospondylomegaepiphyseal dysplasia!P[[ ` z  Y G]&K'?.@uAxenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities<G. G q .0Pa6iHyperparathyroidism 2qK k Q EOn|})F6~`Flaujeac factor deficiency=1OB-CELL CLL/LYMPHOMA 2/0_ ec+Congenital heart defects, multiple types, 4 ]dr '}\A r!Deafness, autosomal recessive 117,(̌ Cervical rib{Q An!Albinism, oculocutaneous, type IV{P ]NoThiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type), x %v,C V7Amyotrophic lateral sclerosis 9 mNdLaron syndrome PWT &b,1vg E3Charcot-Marie-Tooth disease, demyelinating, type 1D  0 g %m#C&fhx@Intrinsic factor and R binder, combined congenital deficiency ofacm s1Facioscapulohumeral muscular dystrophy 3, digenic   ku*.0Zvo t1Biliary, renal, neurologic, and skeletal syndromekS~7<mqFMifrstL]ksw{,3g j 4 5 X \  4 S e  o?p<','T(()**,(,P---;-f.0^0_0x1bxz~||}N;|Granulomas, congenital cerebraljb>Ichthyosis, mental retardation, dwarfism, and renal impairmentp 7/ l$3-methylglutaconic aciduria, type IX$ ,@C gy   *p+Y|- Pulmonic stenosisjC'Diabetes mellitus, insulin-dependent, 2dl+g cEstrogen resistance 7J% %)b.zNM JPeripheral cone dystrophy $QYw@ nNPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 28HW $ 0 1 2 M )/1G <Cardiomyopathy, dilated, 1Jclm*) o\Menke-Hennekam syndrome 1@%ABW[mq>EFj[fi5<` Z |q'G)}*3++.0P01|FWCrome syndrome y!,PO qJRetinitis pigmentosa 88 A`'9, [Diamond-blackfan anemia 10KV[fmq]kho2  !g,bj2= (5!Dysphasia, familial developmental M H @,Maturity-onset diabetes of the young, type 4(ZM2%Piebald trait with neurologic defectsmvi)Ciliary dyskinesia, primary, 36, X-linked > S '+d1 R6Inosine phosphorylase deficiency, immune defect due to ; gDeafness, autosomal dominant 67hd s0Radio-Tartaglia syndromeO&,3<BUW[mq>Fu}1:)9@]]  Z j&&0bff%:Spondyloepiphyseal dysplasia tarda with mental retardation _ q q 2[Marcus gunn phenomenon" gy1Myasthenic syndrome, congenital, 2A, slow-channelZ'[T u ~ < K j)bv|; @Deafness, autosomal dominant 22 qCoffin-Siris syndrome 11<Ur o"&| w&kNeurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linkedQd  H X ",,0A*#Glaucoma - sleep apnea)'8, Diaphragmatic hernia, congenitalvECHIME syndromeV"JQ~<B7M]d) X   S q?iA"8#%&()+0a0u||A5\Cylindromatosis, familial ;#Myopia 26, X-linked, female-limited* rDJNeurodevelopmental disorder with microcephaly, seizures, and brain atrophy7A,CS[ ,P,0bf$6 OSTEOPOROSIS^ Microcephaly-micromelia syndrome[q8S) j h&1&]&/1h >(Cerebral amyloid angiopathy, APP-related Z M I Jh-.d MLHFibrosis of extraocular muscles, congenital, with synergistic divergenceAy\!Albinism, oculocutaneous, type IA!Ae{S F,d K ,/Atrophia maculosa varioliformis cutis, familial qnFNeurodevelopmental disorder with hypotonia, microcephaly, and seizures!,7AF @MA o"&*+.1|`k D7Arrhythmogenic right ventricular dysplasia, familial, 8 cm-dlB ASpecific language impairment 2 pLLeukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosise oo-Microcephaly 25, primary, autosomal recessive ` j,[8k n{#Osteopetrosis, autosomal dominant 3Ko | P,0Zc> ^CImmunodeficiency-Centromeric instability-facial anomalies syndrome27<Kq* " | u*N mlGDevelopmental delay and seizures with or without movement abnormalities 49K 1+ N _*Mental retardation, autosomal recessive 28 &.^Felty syndromeZSf҄FMetaphyseal modeling abnormality, skin lesions, and spastic paraplegia*g$7Spondyloepiphyseal dysplasia tarda, autosomal recessive _ J".X/Minicore myopathy with external ophthalmoplegia$ 'f )- Z 'gu"#A#V),= .R!Glaucoma 1, primary open angle, Cz2Charcot-Marie-Tooth disease, X-linked recessive, 3i Q Z x 0 m#Cz`5Neuropathy, hereditary sensory and autonomic, type IAL^ 7 J x ; Q g xc[ qRetinitis pigmentosa 90 m %*9,,bFFAarskog-Scott syndromeH/1!37<GW[]7f0 Z | qj (!$$&,..0a1~ .Gomez-Lopez-Hernandez syndrome(<?fq8 (CS<  U v |O.||lr o2Congenital anomalies of kidney and urinary tract 3 LVY~ %,wO+INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TOm ^AMitochondrial complex V (atp synthase) deficiency, nuclear type 3g 8 &f.DlPolydactyly, preaxial IV 8&).8 GEpilepsy, benign neonatal, 3 L xUOptic atrophy 16 <[ %,0@ u4Spermatogenic failure 70 ,/{ tImmunodeficiency 92f* *,Nwuvyz}ABo jOrofaciodigital syndrome XV~<q(G s #|'G'R0P* Cataract 7<}%o O'Glycosylphosphatidylinositol deficiencyI H*C,v"v#{C ou7Epilepsy, idiopathic generalized, susceptibility to, 158I %,b Craniofrontonasal syndrome4/1<D]A$ f r Z sqX'G.2  U u r?Developmental delay with dysmorphic facies and dental anomalies 1 8 HE )%Arterial dissection with lentiginosis/; jPeeling skin syndrome 5 b7 `Ventricular septal defect 2 -j WJoubert syndrome 9,s$8G s Z <`D$Anonychia with flexural pigmentation/Lj0Indolylacroyl glycinuria with mental retardation $ p5Short stature and microcephaly with genital anomalies67  Z ) .c1HYDROXYPROLINEMIA [ ` YiKahrizi syndromeId ~  *p0W r10Combined oxidative phosphorylation deficiency 51m8  H S > ,..1`BCurrarino syndrome LU-` 9 }&=&>&?&A(A(0D ^D,Candidiasis, familial, 6, autosomal dominant ` O4Migraine with or without aura, susceptibility to, 10e#H(Corneal dystrophy, endothelial, X-linkedIkAJuvenile polyposis/hereditary hemorrhagic telangiectasia syndromebuo h W p&N a-Peroxisome biogenesis disorder 5A (Zellweger)W/kq7<[\mqD@E)ty]_u{0N  \ S 'z~<O!")K)+,,/ 0P0abc[u`uxz~||kE QEDiamond-Blackfan anemia 3h.v>]s:=Myopathy with storage of glycoproteins and glycosaminoglycans ~ # un5Epidermolysis bullosa simplex with muscular dystrophy ot S  #A.S/ hNAdducted thumbs syndrome S - ~Nb[ n3Capillary malformation-arteriovenous malformation 2 bwt b$Osteopetrosis, autosomal recessive 8<Qo )*,,.K= Ichthyosis vulgaris 3,}J<*Optic atrophy--spastic paraplegia syndrome<}1Hypoinsulinemic hypoglycemia with hemihypertrophyD Z  h E,Charcot-Marie-Tooth disease, axonal, type 2I  x 0 2 4 m{ Q(7Hypoaldosteronism, congenital, due to CMO II deficiency Pi V'N~jL?Periodic fever, immunodeficiency, and thrombocytopenia syndrome0S> #*+ccldzU Whim syndrome7S>  y,y k pwIntellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures MqjA x)Hyperemesis gravidarum, susceptibility to/9 cMyopia 22, autosomal dominant* [-Spondylo-megaepiphyseal-metaphyseal dysplasia#<[7 Z ) 2 Z "T%)Tyx (4#Parkinson disease, juvenile, type 249C |~  : G \  %,.c+dldn= di%Craniosynostosis 5, susceptibility toSt$Immunodeficiency, common variable, 2> h i  "  ;+d.?B w*YIntellectual developmental disorder, autosomal dominant 71, with behavioral abnormalitiesK.~ /DWfFa}(4CfA]<G3IX 8 E   U | jm,?//1xOl= F= OH [Cardiomyopathy, dilated, 1ccl ,1xO WPremature ovarian failure 6 e   ((.F ]Nephronophthisis 9 Zg"o~"^ )"Tibial muscular dystrophy, tardive f 0 ]#,D fOvarian dysgenesis 4 %  (4)Immunodeficiency 27A, mycobacteriosis, AR fo*A k  "b1iacSuw `Coffin-Siris syndrome 21&BWmy>)[< &.0  C#Cataract, congenital, Volkmann type,2Arterial calcification, generalized, of infancy, 16chlz S '0Lbcy%zQzRu W-Ichthyosis, congenital, autosomal recessive 6 7ObXJ4Cleft larynx, posteriorstridor, congenital, includedH o iZ0Combined oxidative phosphorylation deficiency 28 ,cg >  ,$ .0ZU ])Cardiomyopathy, familial hypertrophic, 18g x E$Charcot-Marie-Tooth disease, type 2J x 0 2 m#C+XvRy u1%Aortic aneurysm, familial thoracic 12<Yo{< 8 Z Ejn,8 mSpermatogenic failure 26 ,2E njONeurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum(9@K  H *n,0z~g cNephronophthisis 16SZiqt}gjkr  %,_RBehcet syndromeFMY N */0x{A,۸Chloramphenicol toxicity{/ c;Multiple congenital anomalies-hypotonia-seizures syndrome 39GHkyUW\q5 )k If H Z r |  [*Y,B,` i[Spinocerebellar ataxia 42 9C ]YXyh a$Interstitial nephritis, karyomegalic Z] ^  B \ZF&Frontonasal dysplasia with alar clefts w j-Epileptic encephalopathy, early infantile, 378@  G H \  *p,y  ROsteogenesis imperfecta, type VEPf T U   (v<N p*Hydrocephalus, congenital communicating, 16G18Fish-Eye diseasek E "O; NErythrocytosis, familial, 3jklH&Lacrimoauriculodentodigital syndrome-12h<Q\mz CluD qK4!g"'$%& & &2&'G+9}k GJImmunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis " h.y1J{9~~.k Q;Immunodeficiency due to defect in mapbp-interacting proteinS ":Orofaciodigital syndrome VI6hn<[fq5n (1NT[ s  $,L.u~^ ( Nivelon-Nivelon-Mabille syndrome%FL(7t B &K'AdQ@x(Teeth, odd shapes oflobodontia, includedV J%.Avascular necrosis of femoral head, primary, 1odlxv{ bCowden syndrome 6&"G[m!5DUVNZ  Z * &T)q){2G&$ 4UMyopia-3*v h4RCardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3g zX7ļ Cataract 42! , Z=9Hemolytic uremic syndrome, atypical, susceptibility to, 5]6Qo B  %-,LABiotinidase deficiencymultiple carboxylase deficiency, late-onset<-<8  [",B!5 `yThrombocythemia 3f\z0 KEmanuel syndromeD 6YzDW[mq!F^V]_jkr| G    Z s#&%+d.2XSWChromosome 5q deletion syndrome  /*/ez^Machado-Joseph disease) o4{| L  B n \m0,0dnvEEh!Kleine-Levin hibernation syndrome  6Ataxia with fasciculations Le +%Epilepsy, familial adult myoclonic, 1  .9<GK `*dH `(Multiple enchondromatosis, Maffucci type EmT pSiddiqi syndrome [ H *|; VCEpisodic ataxia, type 7,S M x!Deafness, autosomal recessive 124Z X V@Microtia - eye coloboma - imperforation of the nasolacrimal duct!g m-Epileptic encephalopathy, early infantile, 63"<W>@5HK u  *B+Y+..| o +SIchthyosis-Mental retardation syndrome with large keratohyalin granules in the skinO_ ?xRippling muscle disease ? %u~## Neuropathy, congenital hypomyelinating, 1, autosomal recessive '- 7 g m&f3 FsAngioma, tufted, 0)W o+Body mass index quantitative trait locus 20bJ *HAnonychia-Onychodystrophy with hypoplasia or absence of distal phalangesBt $&Spastic paraplegia 16, X-linked )GC : {  %*& ^:Short-Rib thoracic dysplasia 7 with or without polydactyly&/Ykq rs)t lW&(*<+RpHAdrenal hypoplasia, congenital, with absent pituitary luteinizinghormone6' 4v@Renal glucosuriag  ){D#Leber congenital amaurosis, type II3DejK( xiJ ULong QT syndrome 9 y%adn M+Williams-Beuren region duplication syndrome*z~BDQ[\8(kGj*n+Z+,.0f n%Tetraamelia syndrome 264<[q]  8&c(8\ ,Epidermolysis bullosa dystrophica, pretibial3% /q ] 5Charcot-marie-tooth disease, recessive intermediate B  x 0#C%tglG TPremature ovarian failure 5e "(=; vDeafness, autosomal dominant 88m, f/Peroxisomal fatty acyl-CoA reductase 1 disorder<W  H W t Dystonia 334 %",dl' Q$Cerebrooculofacioskeletal syndrome 4-NB[fqE)CD[.N 1   R&( jShashi-Pena syndrome.z<fqz_k G E Z /"'A*0b^.Optic atrophy with negative electroretinograms%,,BR KBG syndrome0'&37<EWf>}{$r ~ qj $$*41i1Charcot-Marie-Tooth disease, X-linked dominant, 6 J 0 n %]""#p&f,v6 rONoonan syndrome 13EQ3<UW[\fq{ MafI_bu05r U Z oj*6+/0cuAchondrogenesis, type IA,qr~7) g | XY(B))*8**0P [ [e Z#5Epilepsy idiopathic generalized, susceptibility to, 88I E P%eDiastrophic dysplasia Km4I Z ) z  !""$$)V) eJCardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis l &L*,x` Mohr syndrome$<G[&1T U Z q'u(9M =%Hyperaldosteronism, familial, type II6[ T%< ` Deafness, autosomal recessive 86m q b9Ventricular tachycardia, catecholaminergic polymorphic, 4 m %,cJ0Cirrhosis, familial6r, 5 AA+Uruguay faciocardiomusculoskeletal syndrome1PSfq>^Ufghu, Z ^  %,0a0z?|}Am<=Mesangial sclerosis, diffuse renal, with ocular abnormalitiesSdkIq !Myoglobinuria, autosomal dominant, a CPorokeratosis 1, multiple types %, l l6Neurodevelopmental disorder with involuntary movements 4@ G   P u  '*Y*p04l t3Tessadori-van Haaften neurodevelopmental syndrome 1'Y<qFu6w q./1NM{F p8Holoprosencephaly 12 with or without pancreatic agenesis' TWqYi ,3 P '!g),x|+X e$Bleeding disorder, platelet-type, 18  , 1FMegalencephaly-capillary malformation-polymicrogyria syndrome, somatic<?Q8 Kf ]uGN U k *&( g/0Combined oxidative phosphorylation deficiency 24*am ,CUg{ H ~ < e u ..vo` _ _/Surfactant metabolism dysfunction, pulmonary, 5-. ;uNRb[x w=Neuronopathy, distal hereditary motor, autosomal recessive 10)C Z 4 >  %uZ&,/NbwDLeri-Weill dyschondrosteosis'( Z q  'hh;"'<9M!Lentiginosis, inherited patterned ȊSneddon syndrome639>o`\ " \)( uSNeurodevelopmental disorder with microcephaly, movement abnormalities, and seizures@C 8 Z e ,P,.4`l k 85Chudley-Mccullough syndrome):GN My!^ DU-Spinocerebellar ataxia, autosomal recessive 4!489C 7 L  mX",,}i \*Ectodermal dysplasia-syndactyly syndrome 1< TM):)* p>Cortical dysplasia, complex, with other brain malformations 10);G =  *n*p/N00~XSpastic paraplegia 2, X-linked%C[   %,` d8Arrhythmogenic right ventricular dysplasia, familial, 13% --Acrorenal-Mandibular syndrome+Ehq [fq-rsZ%/)  y !(xO|D f4Bardet-Biedl syndrome 11M ( wAuriculocondylar syndrome 2B(%DU[t S c")(+.0uF mQGeleophysic dysplasia 3%7W0GIVu*. ` > 'h&b)',0g dPCiliary dyskinesia, primary, 27> S u+d+e/0`  h;"Osteogenesis imperfecta, type XVIIl,f  D F,x n@1Proteasome-Associated autoinflammatory syndrome 2Q 'M#*+c#cuvz}ElBBHydrops fetalis, nonimmuneco *5=Mental retardation, X-linked 99, syndromic, female-restricted:n~?DUWfmq!Y )fi_k2G Z n+.12  wqn)ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF \ $%&2,(I w_)Oocyte/zygote/embryo maturation arrest 20 ,Rp^8!t@Acromegaloid changes, cutis verticis gyrata, and corneal leukoma b/))-vj JiSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive*  N"Netherton syndrome -3 y *7+\,}=9} plSnijders Blok-Fisher syndrome)z |  8D^-Peroxisome biogenesis disorder 2A (Zellweger).q <[\DF @E y[08  O!%+/G0aw dWarburg micro syndrome 4+.6&W8 @[HU 8  g l"""*p1j b4Mitochondrial complex III deficiency, nuclear type 23m,49CR H   Q Z 7  %y),.1Holoprosencephaly 13, X-linked [mqa]kw L !!g#&&u`A|!Telangiectasia, hereditary benign 9A,&IChondrosarcomamC qDeafness, autosomal dominant 77h ,~BqEncephalomalacia, multilocularf-,Rhizomelic chondrodysplasia punctata, type 2'[\a [d T Z  Y "")*p*.o= [*F qGlaucoma, primary closed-anglec,/M1m$!Ophthalmomandibulomelic dysplasiaj q ')O0c q+Congenital heart defects, multiple types, 7 djG-F.|Z1Hypomelanosis of Ito<d<  Z $uf:Osteodysplasty, precocious, of danks, mayne, and kozlowski' T$,2f c"Pulmonary hypertension, primary, 4 s, %\,-- Mend syndrome.4?[fq5FPn@r5 Se"'G()=.zHVFoveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, includedFcDx+Keratoderma, palmoplantar, punctate type IA ;= Rj,bbDuchenne muscular dystrophy ,[cfl+ Z 6 >  + ? {#,-uc^F*Radial ray hypoplasia with choanal atresia 5 %&2 a.0Combined oxidative phosphorylation deficiency 104gh~g 8   .. gkLipoyltransferase 1 deficiency4~,Gg H ^ 8  @ "Nnc H PRetinal cone dystrophy 4$em0>LHLegg-Calve-Perthes disease o1Hypertelorism, microtia, facial clefting syndromeV<[[ S!g$.w qM#Nabais Sa-de vries syndrome, type 2-3<E[fq}5'4q!g")'0| ue+Dentici-Novelli neurodevelopmental syndrome3<TmF: u  "&+Y,1 [hNoonan syndrome 62<Q\fq!3 _gjwr +,./}jʾMannosidosis, betam w  /"?= 3 ]Nephronophthisis 12Z,wNasopharyngeal carcinoma hLKapur-Toriello syndrome%6;Oq8d]_kHNr  Z%&%&2)=*p a.Peroxisome biogenesis disorder 11A (Zellweger)kE\;8N ^ e"y 2Insensitivity to pain, congenital, with anhidrosis/"t  mQ$O 0,2uN X6Porokeratosis 6, disseminated superficial Actinic type lV g*Microphthalmia, isolated, with coloboma 1078dc s>EIntellectual developmental disorder and hypogonadotropic hypogonadism,6%7[7J_Z". vyz6:;"pSpermatogenic failure 4 , n};Intellectual developmental disorder, autosomal recessive 65%/ ?Ay!:_ &  'o#$<&%,O,P.|w UCombined saposin deficiency8 L '+.- Exostoses of heel MP`Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctatecalcifications, and deafnessw- Z 2 z e l / ''5DHemangiopericytoma, malignantZm̨Meckel syndrome 1S!=Ehq<?QT[q8Yd C)=@/@Wk%&[%)G   s  9 {W"$&bu|xzBruck syndrome 1lO#f Z c k B ~ n>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8  ? %mu#@ vSpermatogenic failure 78 ,12C sCardiomyopathy, dilated, 2El(L<TOvarian dysgenesis 1E% >~Spondyloocular syndrome%fqO,_b5r  8k)1|fc;Preaxial deficiency, postaxial polydactyly, and hypospadias']$&2D OEsophagitis, eosinophilic, 1XAd bq,Charcot-Marie-Tooth disease, axonal, type 2Q  %#],-Myopathy, myosin storage, autosomal recessive#,cgl +- Z ;  %]gqux#--dnx{ A 8o%Growth hormone insensitivity, partialvk-Dyskeratosis congenita, autosomal recessive 1C#sQT{u  &a:1Succinyl CoA:3-oxoacid CoA transferase deficiency g'V[B&Ptosis, strabismus, and ectopic pupilsf.Sotos syndromeRMb /3<EQ\fq5':@Cf ]_k)G B U Z )' j&&(+,,-g.2b^K 4D#Epilepsy, nocturnal frontal lobe, 2U[ adKCerebellar dysfunction with variable cognitive and behavioral abnormalities@3<QW[fq!')KHX  J Z  Mgj"(+0B:mP>AContractures, congenital, torticollis, and malignant hyperthermia j&Creatine phosphokinase, elevated serum  ~ B ~#o0Z 9:Pyogenic sterile arthritis, pyoderma gangrenosum, and acne%YTf  +0icldv2 d*Spastic paraplegia 72, autosomal recessivev [  %],uc|Perlman syndrome[qZ  k !!*3*4,M-[ bCEpiphyseal dysplasia, multiple, with myopia and conductive deafness7! ` q )&K0Pvyw?#Trochlea of the humerus, aplasia of 9%Charcot-Marie-Tooth disease, type 4B2 x 0 4 7 g %m#C,q sEEncephalitis, acute, infection (viral)-induced, susceptibility to, 11 %,N,J92Dystransthyretinemic euthyroidal hyperthyroxinemia 7 t8Gastrointestinal defects and immunodeficiency syndrome 2, [)4` )>N o ' e (4)=*n*+\,/NNMwx bJEctodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant  hOculodentodigital dysplasia6 y*8E8_W Q ||P #&%&3),_-1ul \Cranioectodermal dysplasia 2PSk !%<?U[\qEF6xMSft_kw 5 t X ^ "(+R,B.Nuu3*Testes, rudimentary2/"l N0Spondylocostal dysostosis 3, autosomal recessive  Z ^ %D Z!Asphyxiating thoracic dystrophy 3#6>inqx .  Z %T(9()S*..,jUrticaria, aquagenic N=Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant   1 P ]ъCartilage-hair hypoplasia/tafWS`o T Z i o z   (!",yoC rOocyte maturation defect 10  = Q ]9Rajab interstitial lung disease with brain calcificationsB .Y 0frtuTo -1  Z > U ^   )P Z"+,./1S^Otodental dysplasia WM++7XOsteoarthritis susceptibility 1" T$Osteopetrosis, autosomal recessive 4Qo  ')**, `r>Thrombophilia due to protein S deficiency, autosomal recessivej>o N'DtU Z5Neutropenia, severe congenital, 2, autosomal dominantS*0C ]Retinitis pigmentosa 44m l*Immunodeficiency 52`>  '*Nhv-}}.M a)Periodic fever, menstrual cycle-dependent . 79Usher syndrome, type IC!O qH?Basal ganglia calcification, idiopathic, 8, autosomal recessiveRDW  aivT!Epiphyseal dysplasia, multiple, 4i Z ^ ` *"b'Aycc;Rolandic epilepsy, mental retardation, and speech dyspraxia+Z~J S*Mental retardation, autosomal recessive 10 & e*Spastic paraplegia 62, autosomal recessive%C  L [  %\,,uc| b*Spastic paraplegia 43, autosomal recessive,C x %]mB&fd a,Microcephaly 9, primary, autosomal recessive 7&fl*dAlcohol dependencex.S:Agenesis of the corpus callosum with peripheral neuropathy9&<DGU5'9@E[+G Z j | 2 7 g t x '\jS $&f+.. Fn&Red skin pigment anomaly of new guineae;F f"Acid-labile subunit, deficiency of7vF MhFrias syndrome <[fz< ufSpermatogenic failure 73 ,.y> GiPEpilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp8 4 J +,{;Myotonia with skeletal abnormalities and mental retardation 7 ) s^Visceral myopathy 1L~  $%+y[ u%Immunodeficiency 105, severe combinedT` ! "  */O A#Melanoma-Pancreatic cancer syndrome , -E/n/p Z8Tubulointerstitial kidney disease, autosomal dominant, 4 Y\]aoeo1NQ )9Parotid salivary glands, polycystic dysgenetic disease of. v.Congenital disorder of glycosylation, type IIyU@GHU Z  +0 bu[|+ +Schizophrenia 4 q ])Cardiomyopathy, familial hypertrophic, 16gm.%-1x1' URETEROCELEFQc fPerrault syndrome 5Z/g c > P X Amyotrophic lateral sclerosis 11 2Blepharochalasis, superior) nQIntellectual developmental disorder with macrocephaly, seizures, and speech delayQ   r!g*o*p0NMx|Q f?)Familial dysalbuminemic hyperthyroxinemia 7yy45zADiaphyseal medullary stenosis with malignant fibrous histiocytoma m ~ \ju60zk#Combined immunodeficiency, X-linked*   '*.?Proteus syndrome, somatic# t & A X \xY;*@/1b[6 T#Atrial septal defect 4_wM jUEncephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum:<U[F,@DM -G{ H / Z e  lJ &%*B+Y.1fOpsismodysplasia6u<W\fqJ} 7-d Z g u e g i l | !""&K'A+ ]'AMental retardation, anterior maxillary protrusion, and strabismus5f  *7*p9 FbAural atresia, congenital9e oC5Epidermodysplasia verruciformis, susceptibility to, 41((,u{}]%Ophthalmoplegia, external, and myopia !"Z n n vLymphatic malformation 13"<?W_kuw,&+dGdLwQ,Deafness, X-linked 3!OT OAicardi-Goutieres syndrome 2 4 W%< u7Spermatogenic failure 71 ,.EInflammatory bowel disease 11  lj8Albinism, ocular, with late-onset sensorineural deafness eQ! u^Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects=i G k  j",0e; /Hemangioma, capillary infantile @Ectopia lentis, familialb!R);fb 8 Z  %,,1x@(Canine teeth, absence of upper permanent16 JECarney complex variant4-6&dHemangiomas of small intestine icLamb-Shaffer syndromeDfq! 57 Z uf-Thrombocytopenia 3Qd  %,/o8٠ Deafness, aminoglycoside-induced.7 xOtosclerosis 12jm,,X -(Athabaskan brainstem dysgenesis syndrome&ik$EMuscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus3 pR1Myopathy, congenital, progressive, with scoliosis~)E[fmq ,7- Z +"#f1)Y \-Chromosome 17q23.1-q23.2 duplication syndromei q )"g-f7Arthropathy, progressive pseudorheumatoid, of childhood,jk +g%)T _oNESCAV syndrome @C[ \"1` )?Mesomelia-Synostoses syndrome!~4<[m!K >"%%&K(4)CPrecocious puberty, central5 ( ,.FHaim-Munk syndrome  Py&+ t#Pontocerebellar hypoplasia, type 16 q)@8GH Z '"*n/Nw fCentronuclear myopathy 5[Z ,lu-  gu"voK XCiliary dyskinesia, primary, 102+d+e/[ eAAtrial standstill 2f~. 9 *cb[ R oLong QT syndrome 8 m %@{@ ,Odontomicronychial dysplasia L ),Malignant hyperthermia, susceptibility to, 4 [Basilar impression, primary  Dj~1 IMajor depressive disorder* p]Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresG j0 j=Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)rtwc2 X \ ^  S Y '\#Q XDiamond-Blackfan anemia 8 <S | Y:Brachyolmia 4 with mild epiphyseal and metaphyseal changese% [ &X0{ `e?Psychomotor retardation, epilepsy, and craniofacial dysmorphism[AGorG 1 e,(,P.2 L[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2N \hi),?M#Aneurysm of interventricular septum 9(O:Vascular hyalinosis Z 9a76Hypotaurinemic retinal degeneration and cardiomyopathybl  :!3bQvyw bwJawad syndromeT  |TH, x,Jeffries-Lakhani neurodevelopmental syndromenz/3BPTU[fq!5A}58i<~QS Uy E P 6  'sof"*C*n+,-.0,0e0i0x0000NNbfc>{ w|Femoral-facial syndrome<6;hq?W[q5FnV]jk|1$G n Z y  | NQ`C!!&H& Adie pupil/*L l0,Microcephaly 18, primary, autosomal dominant9 xQNeurodevelopmental disorder with hypotonia and characteristic brain abnormalities6/WfmqY@C H r '[o"*40ebf1u[ L[]rCampomelic dysplasia\/~<W[\mq!Enrsf[028 n S Z g 2 4  W !""%&K'2(=(C),N,O.../0P1w/ .AOBESITY*04|Kc _PCRetinal arterial macroaneurysm with supravalvular pulmonic stenosisj/c 6 oqOocyte maturation defect 6 NE c!Atrial fibrillation, familial, 13r z? K&Spondylometaphyseal dysplasia, type A4  a q  l / N[s"D$Cryofibrinogenemia, familial primary'!` e(Sacral agenesis with vertebral anomalies z  (A1M t8FCerebellar ataxia, brain abnormalities, and cardiac conduction defects1/T!5 ,@CuH  o Z e ;<-.0a0ur n*Mental retardation, autosomal recessive 66 fjbnB>Brachydactyly, preaxial, with hallux varus and thumb abduction&2&'A'}) Z;9Hemolytic uremic syndrome, atypical, susceptibility to, 3]6Qo B -,, j-Epileptic encephalopathy, early infantile, 41#y @[  1 H  '"*B*p+Y+.z F A&GLYCINE N-METHYLTRANSFERASE DEFICIENCY ^  pRothmund-Thomson syndrome8/<[18^ < m o , | !&2*+= wm%QAnemia, nonspherocytic hemolytic, associated with abnormality of redcell membrane ?e@Intellectual developmental disorder with autism and speech delay  f  *p1|C ]Retinitis pigmentosa 39c9TL Tietz albinism-deafness syndrome {L Y!O6Thumbs, congenital clasped.,Autoimmune disease ui$*h Teeth, fusedK nNephrotic syndrome, type 18]a%\,1,h f$Aortic aneurysm, familial thoracic 9 b E1A _!Glutathione peroxidase deficiency Nr p^Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures?GTU>FD p "+.~` b 0Combined oxidative phosphorylation deficiency 11'SYknm 8@ufHg > 8 ~ e &f.0L [(Mononeuropathy of the median nerve, mild &g/I YRSpherocytosis, type 5 V\~.a.u c6Smith-Mccort dysplasia 2/a ) l yg"l&K'A),0K [JRetinitis pigmentosa-50 / \ qHarderoporphyriaV /[~ l#Peho-Like syndrome %TU'8;@CGNU | .1c=] g46,XY sex reversal 10./036>" "/2= V e#Bone marrow failure syndrome 2 'QZo%dl oKhan-Khan-Katsanis syndrome5ILYk~[-/Dh(@wS`oG` Z | <)'*4+--.u`u|X OEIS complex!!'6=BHQh}~n^ 2`    yg!*"(A( vjcMyopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis ^ a  %gu~"##"#q,c[9$Mucopolysaccharidosis VIIDDm>e[`kfv0o Z x ) 6 /  u m "g"r",0c+ pZimmermann-Laband syndrome 3&> [k 7 &(u  Waardenburg syndrome, type 1/<?>E{L n 6!OM [Exudative vitreoretinopathy 5R{w X%#Pontocerebellar hypoplasia, type 2B#T()4 Gy = "&.`x ddMicrophthalmia, syndromic 12[8-])  $ 2bKDistal renal tubular acidosis 3, with or without sensorineural hearing lossyf T ' !, u;Neurodevelopmental disorder with epilepsy and brain atrophy/)84  %'+j*c+Y,.c B _*Mental retardation, autosomal recessive 31u a-Peroxisome biogenesis disorder 8A (Zellweger) ]""),P| vW2 >  '%(F,./4voXo`bN6Pseudohermaphroditism, female, with skeletal anomalies>G! +;Epiphyseal dysplasia, multiple, 3, with or without myopathyah ` g u'A)V)Yxw t$ZIntellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies"BUW!)9@ G  j.3 6Cystic fibrosis, modifier of, 113Mitochondrial complex I deficiency, nuclear type 12 8K]g 7 M u",.| i#Myasthenic syndrome, congenital, 19[q - u K u).Nu9 _Myopia 21, autosomal dominant*,N j.Epilepsy, familial focal, with variable foci 2}.O +Factor V excess with spontaneous thrombosisCV.i t)Agammaglobulinemia 10, autosomal dominant  " P+dv,+BS uArthrogryposis, distal, type 11 .08 0ak _Nephronophthisis 13YZ]`%,,13}AKO 'Cardiomyopathy, familial restrictive, 1mGz?2&Nasopalpebral lipoma-coloboma syndrome <GQ]qz8M|D q&)F)xN /*Corneal dystrophy of bowman layer, type II/ekK ,VCerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss& m<j,4S|   %,|3 bcPhosphohydroxylysinuria|~[W<Wernicke-Korsakoff syndrome Z 2z /Surfactant metabolism dysfunction, pulmonary, 1,.8 S >'6ub[xq \!Chromosome 4q21 deletion syndrome <BQW "7SMental retardation, X-linked 50\ W Atrial fibrillation, familial, 7  @+/dldn7 Y#Deafness, autosomal dominant 3B!g E3Migraine with or without aura, susceptibility to, 6 e# Z93-M syndrome 2# 3EWs x z  k$(B+,00u% ` Keratoconus 83G DDeafness, autosomal dominant 44h%,~9 .!Iris pigment epithelium anomalies-% ` Keratoconus 53x o Arthrogryposis, distal, type 2B2E'0< 'G)=0au< vH Amelogenesis imperfecta, type IKj wZiegler-Huang syndrome6S  ().w{_ E 3Migraine with or without aura, susceptibility to, 3e#-V3-M syndrome 1&/ /3EW>]f S  kq"""$(BKhMitral valve prolapse 1 )bu W -Martinez-Frias syndrome /   "qsz} F!Chromosome 1p36 deletion syndromek/V3<Wfmq!EFL+5Sn|'i]_dklow05HN 0  8 Z q,!g"$%Q(L)*q+Y++.0a012*hSCHIZENCEPHALYH) jY1Cholestasis, progressive familial intrahepatic, 5rw \  '^n||F Pachyonychia congenita, type 1 N s.Spinocerebellar ataxia, autosomal recessive 31*? ),49@K  q !".|4A n!Deafness, autosomal recessive 109!O!k,t6Seckel syndrome 11/DT[qyEnB(8<T[ Z q"*!"')W I Granulomatosis with polyangiitis#*=G -6A  *+p0Z1c>cLz}}}h jB jgMeier-Gorlin syndrome 74/6Lmq!Sf ]_) Z ^ ZSb!g!)-/1w 5/Hemophagocytic lymphohistiocytosis, familial, 2, QTZok O V ^ j    .|/|//a LMyopathy, myofibrillar, 4f ( u #g#q)Kallmann syndrome with spastic paraplegia,6z7= q \vvksMental retardation, X-linked 93z  +l8,Malignant hyperthermia, susceptibility to, 1 qi 7 Y a OnBaraitser-Winter syndrome 1-63<Wq78d} ;korGr |"'R.F LTukel syndrome B%s >GBasaloid follicular hamartoma syndrome, generalized, autosomal dominant)F)rb b W>Thrombophilia due to protein C deficiency, autosomal recessive N %'t[7b'Hyperpigmentation, familial progressive   QY 4a!Pseudohypoparathyroidism, type IB T U Y ] 'A>7&Hypersensitivity pneumonitis, familialt= vQiNeurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities13<?EU\fqo:@]kwH 8 uqGl"%%)+..0u`52Atrioventricular dissociation rBaralle-Macken syndromeF)'4@  *p| W>2Cardiomyopathy, dilated, 1AA, with or without LVNCgl%,,wzVzW^|"Cerebral cavernous malformations 1 z ujh>Hypogonadism with low-grade mental deficiency and microcephaly)4(Elliptocytosis 2V ]]!Larsen-like syndrome, Lethal type ]A)- (/?$d SARCOSINEMIA* sDEGCAGS syndrome} )/>Y&<?EW[fmq8YMStAEVW]_jkqwTZco*,3Gr H ) X |,s#&2(*8*++\.0`001&1(1Nc@cUxz`] u /.Humeroradial synostosis @ tSpermatogenic failure 63 ",d o Arthrogryposis, distal, type 2B3 E Z%)=0a\@Vitiligo-associated multiple autoimmune disease susceptibility 6,Autoinflammatory disease, systemic, X-linked>S " */Y/Z00-B> ZMicrophthalmia, isolated 48M( p[4Intellectual developmental disorder 60 with seizures 89 P X f*C*b++R _*Mental retardation, autosomal recessive 29@*p [:Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type,7q67h, G 9 U a g g i l | !!g"R""+XSCorpus callosum, agenesis of %+0a8 m Butyrylcholinesterase deficiency8B sBDevelopmental delay, impaired speech, and behavioral abnormalities/06 !%,3<?BQU\mz7<>FMd}17+^4@DMfu&IZ]co{  GXwy  1 8 E H o ' Z ) X ^ | ZNPj!"/"8":&(8))!)*<*Y*n+X+.0Z0i000001Nbc*cucuu{e||~fA}& qDeeah syndromeB6BUW\mq !58g'Qr 1 S Z | )=),P,001N^c|u}6+Prostate cancer/] wHNeurodevelopmental disorder with microcephaly and movement abnormalities"L?q5   Z  |E`fK jRetinitis pigmentosa 76 m9,vyww KPierson syndrome(]d.8=j6P  'o^ *,.2)ccyX1Corneal opacification with other ocular anomalies-8d ', ]*Spastic paraplegia 48, autosomal recessive X   \&fucxx p-Epileptic encephalopathy, early infantile, 82'(@ g "*pV _"Complement component 4B deficiency 3 +d @<$Camptomelic syndrome, Long-Limb type W CwAnauxetic dysplasia 1&/3<afr' % x z ~ V "$)Yk nGEncephalitis/encephalopathy, mild, with reversible myelin vacuolization%, V-Congenital disorder of glycosylation, type In[8C - r  :*p. -.Van Maldergem syndrome 18/Y<GU[E~ f  Z \ Q!g&'<))):*4..0a1u~~O d]Hemochromatosis, type 5 o | *T00~x k=Immunoskeletal dysplasia with neurodevelopmental abnormalitie\%<K[FCSiX`ky ` q t " z   | /  %'N !""&b)m,,NbvpxO{9FH _kParkinson disease 18    xCiliary dyskinesia, primary, 52]_jkw # (,-!-(-/{M Vٶ"Copper deficiency, familial benign o.T 5Xanthinuria, type II S  %**,.&@3$Hyperkeratosis lenticularis perstans  x"Pulmonary hypertension, primary, 6Vg,-.8 B,,b[y`'Pilonidal sinus* mSpinocerebellar ataxia 47Uq  \,u w2 xw2Spondyloepimetaphyseal dysplasia, Guo-Campeau type<L~ U[fqF aK]_ ,3 U Z p q<!g"$%%&b)*wVXs ioMetabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration=5 ,4@Dg~   Ugy  B H a g 8  %@"(J,0{1|| [\i fSpinocerebellar ataxia 3889  ], mVerveri-Brady syndrome$<?qzF Z q.W V3Cataract, juvenile, with microcornea and glucosuria %/Myasthenic syndrome, congenital, 6, presynapticUL2 8 B E J K 'v< uSpermatogenic failure 74 ,.y>$ t5$Immunodeficiency 87 and autoimmunity<<6tuw_lQV`b,k   T r %MX'+{+,,,.//NhNbxz{||}} +LCoumarin resistanceO9Glaucoma 1, open angle, A!s C(Scheie syndrome%/"r{ % ) 6 / gBMeckel syndrome 12 YT[q).[  & *~p m4Leber congenital amaurosis with early-onset deafness "e !3,wr ;]&Myoclonic epilepsy, familial infantileK E )2{m<)Spondyloarthropathy, susceptibility to, 1 { k Z"-/Z0yN x=Autoinflammation with episodic fever and immune dysregulationY   ,.JuiB mR3Glycosylphosphatidylinositol biosynthesis defect 15U!)9CI 1  *C+K p;/Night blindness, congenital stationary, type 1I( r3Mitochondrial complex II deficiency, nuclear type 348luw H g 8 @<l z,../ 1bQwa AAlveolar capillary dysplasia with misalignment of pulmonary veinsD/H~<[q-]_dkow,5G    S D??y'(****-3-[0x xA q"Imagawa-Matsumoto syndromeb/7<P   )N +0a2 uP o$Hypoalphalipoproteinemia, primary, 2< =*z,jo&Parkinsonism with spasticity, X-linked RC  \  %]dmS rvImmunodeficiency 75 > i  ,ONhv= 9[ _@;Intellectual developmental disorder, autosomal recessive 16 \-Chromosome 4q32.1-q32.2 triplication syndrome+"/4B\q KMK G | !g)0xb cDWoods syndromeCa] &%,G..y 7 KbAneurysm, intracranial berry, 3ueHoloprosencephaly 2)78YdCi )P Z L #&)**.27Mental retardation, X-linked 81B (\*Hirschsprung disease, susceptibility to, 5 ^'Neuropathy, hereditary sensory, type IEm 2 4\,zf i"=Radioulnar synostosis with amegakaryocytic thrombocytopenia 2"QSoq $O)=E .%Spastic paraplegia and Evans syndrome `&*Cutis laxa, autosomal recessive, type IIIB%<EfP?[  &)+i .Exudative vitreoretinopathy 4 j{ w V29Congenital arthrogryposis with anterior horn cell disease,[q! 4DEi.   Z > m+.N R$Ciliary dyskinesia, primary, 62+d// wCNephrosis with deafness and urinary tract and digital malformations dm%%'q'wa .j-Yemenite deaf-blind hypopigmentation syndrome 7dU!D Amelogenesis imperfecta, type IE#(;I >6Exudative vitreoretinopathy 3{t- wc p#/Erythrokeratodermia veriabilis et progressiva 6  ; R-cyH$Hypertrophic neuropathy and cataract j x&fTNEPHROSIALIDOSIS Sdp *p sm;Neurodevelopmental disorder with infantile epileptic spasms<5 +Y|G ZORetinitis pigmentosa 42 ,,ww te*Spastic paraplegia 84, autosomal recessive C 7  %B# *y,uc|^K G`#Epilepsy, familial temporal lobe, 2 - E P Y,Interleukin 1 receptor antagonist deficiencyuj2 '((+.ybbd giʰ-Neuronopathy, distal hereditary motor, type I  \mcv ]oNAdrenal insufficiency, congenital, with 46XY sex reversal, partial or completeN[-/ e0Combined oxidative phosphorylation deficiency 211u g    ".%Yx%IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1 ]{6 E$Charcot-Marie-Tooth disease, type 4A x 4 6 7 H e g x ^mQV!Albinism, oculocutaneous, type VIeYF]h!Protoporphyria, erythropoietic, 1 9wVk*,[9Metachromatic leukodystrophy!: 4C C j u +X/ P/Combined oxidative phosphorylation deficiency 3,r ',49klw-.Gg > V 8 '$% "..eHirschsprung disease with ulnar polydactyly, polysyndactyly of bigtoes, and ventricular septal defect]1Glycogen storage disease Ia]ai'67Zzde ^  8 Z  ,/h DAutism, susceptibility to, 8 1 H,g ^y7Bleeding disorder, platelet-type, 13, susceptibility to .^.a.vz qQNeurodevelopmental disorder with language impairment and behavioral abnormalities4@  E /NlmxMCataract, congenital total, with posterior sutural opacities in heterozygotesu)hh"Cardiospondylocarpofacial syndrome8LU%<WfqFPuf]_uw  Z a !O"%)S)X,{,-g.0x A!Spinal intradural arachnoid cysts)6^M eSeckel syndrome 8 V[ b V*Spastic paraplegia 39, autosomal recessive C ml#]| xYuksel-Vogel-Bauser syndrome~46]_ %*wlAISCostello syndromeJS%3<[fq >IV]_bgjM -;G + . 6 > e/%t-/1|b v-Immunodeficiency 109 with lymphoproliferationT>k %"+d,.|/0Nhv,zB gT#Coenzyme Q10 deficiency, primary, 7'),]gk~-g & Z  l E0Neuronopathy, distal hereditary motor, type VIIB E > ]m#vvoK g3Palmoplantar keratoderma, nonepidermolytic, focal 20Ataxia-telangiectasia1  37#489F;`u > i nA !*,/0Q +-Deafness, neurosensory, autosomal recessive 7 %p 1Hemochromatosis, type 2A,Yrcfl |,- x(Ullrich congenital muscular dystrophy 1B)[, Z >  'guNMuw|Wiou- TGallbladder disease 49*| L,Epileptic encephalopathy, early infantile, 3' K'l*c,00 n Split-Hand/foot malformation 3Y4Gy!t 0aS _Hermansky-Pudlak syndrome 9 S-QZv 8%Ataxia-telangiectasia-like disorder 1;#4  7 n%\mv\+},_/Corneal dystrophy, epithelial basement membranek % ,(Charcot-Marie-Tooth disease and deafness9\ x 0 A c g w%jm#C,z: ]Orofacial cleft 13[o q`7Muscular dystrophy, limb-girdle, autosomal recessive 26  u##"#V1v8 6H Deafness, autosomal recessive 16w u;Intellectual developmental disorder, autosomal recessive 77 "fK * /G KGlucocorticoid deficiency 3 Rk hAdams-Oliver syndrome 6YRs]|9 <G ZGlioma susceptibility 3 k EG%x/Y9Hypouricemia, hypercalcinuria, and decreased bone densityf >FBart-Pumphrey syndromem ^.Vater associationvacterl association, included&/JLVhn~B]dk%` n  Z "&2(k KBranchiogenic-deafness syndromeds&C&D& v!MDevelopmental delay, behavioral abnormalities, and neuropsychiatric disordersf 8jbc|~<CPterygia, mental retardation, and distinctive craniofacial features/4y# +0P2d\Wolfram syndrome 1  H~mD35i9fQa a%I, *D-2-Hydroxyglutaric aciduria 1[,f{8 p N ,+0!0`[v{x7Epidermolysis bullosa simplex with mottled pigmentation  t  Fj ,. n *Satoyoshi syndrome < ) B&+'A)0Z* TOtosclerosis 4j m8'Fanconi anemia, complementation group WY8G  / &1.{A ojBMicrocephaly, growth deficiency, seizures, and brain malformationsB\:@D[U 1 #}&*41 L&Acromesomelic dysplasia, Demirhan type /'  ( "$$%|%&K&b'2.JAl2Internal carotid artery, spontaneous dissection ofQk w'Alport syndrome 3B, autosomal recessive S]dm [%!,1!10) 7ALPHA-THALASSEMIA. pWNeurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotoniaq5Y,9@  1 H "0lD cCCardiomyopathy, dilated, 1JJl ,1x?s'Prostate cancer, hereditary, X-linked 1/]8nFraser-Like syndromeG5%Dz _<Psoriasis 14, pustular  %' *+,,.ybbuy g] g%Trichothiodystrophy 2, photosensitive  7)G Kyrle diseasek@ 0 Xanthomatosis, susceptibility to 4&Simpson-Golabi-Behmel syndrome, type 2qG S  $*p,(Z!6Amyotrophic lateral sclerosis with polyglucosan bodies Lissencephaly, X-linked, 26>W[\q 0;CG{""&,M,P1 g.Spinocerebellar ataxia, autosomal recessive 205!Wm)@H Z  '(*n+,0a0012 bu< lSpermatogenic failure 21 ,/2E XV"Leukodystrophy, hypomyelinating, 6;049 H o  \",6vNasal alar collapse, bilateraluIHirschsprung disease with hypoplastic nails and dysmorphic facialfeatures~` KBruck syndrome 2#[ U c [ mLNeurodevelopmental disorder with dysmorphic facies and distal limb anomalies<[F 5< q'G+1NMv wT =mCone-Rod dystrophy 8 $K`ej:k&>Uncombable hair syndrome 1,_,uh KhArthrogryposis, distal, type 4; &r Z 4!(V*p0aSick sinus syndrome 2bm{ %@*x,,--dlw{;{crMetatropic dysplasia2\w[- Z `    ) 5 > ? l   / 'G"$)S[ )0 Breast cancer dB,Charcot-Marie-Tooth disease, axonal, type 2R,E-X  4 g  "|j *BDeafness, autosomal recessive 4, with enlarged vestibular aqueductxU ,{ m^Alkuraya-Kucinskas syndrome4.6<[fqFY );@M5G = | y)=0a11uOccipital horn syndrome/~W\u~af. q ) . zp*U.h d(Palmoplantar keratoderma, Nagashima type   %',abb}Q$> Hawkinsinuria  Y  [ln qFanconi renotubular syndrome 5]61d )  %06u~ s3Short-rib thoracic dysplasia 21 without polydactyly%/6Wfq[G s S ,",.0P0 l.Spinocerebellar ataxia, autosomal recessive 26 c \dn_ dYImmunodeficiency 14> 1 0vv2A| mDFacial palsy, congenital, with ptosis and velopharyngeal dysfunction K `),B J :Sudden infant death with dysgenesis of the testes syndrome!H~8  '"" ""(CcQcW= a)Progressive familial heart block, type IA m.24--/ h Cutis laxa, autosomal dominant 3#zEQqDf{ U u J#")+.FV82Hyperthermia, cutaneous, with headaches and nausea xVNeurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities *C|~  : \ > "#C,|Q}yOYDIntestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked~<?qkQ   %".exu c.Multiple mitochondrial dysfunctions syndrome 3* -GNj H o > 8 \ z..1~[E w,)Oocyte/zygote/embryo maturation arrest 18 ,S (DRetinitis pigmentosa 14 &m9kkSpinocerebellar ataxia 7D`o9C  [ `#Epilepsy, familial temporal lobe, 5  - P%*b,Nl PKoolen-De Vries syndromeQ L~Q\EFY fiAK]_jkoG 8 Z ov2")..f /)Amyotrophic lateral sclerosis 5, juvenileC > L %]mX, Ej$Immunodeficiency, common variable, 1p*>  ";*+d,,.?v r0HNeurodevelopmental disorder with speech impairment and dysmorphic facies'%<\mq Sf 8  !g*3,.0c snImmunodeficiency 81b /dd vz{9}.8 +0Budd-Chiari syndromerz O iHyperuricemia, infantile, with abnormal behavior and normal hypoxanthineguanine phosphoribosyltransferase @e m0Neurodegeneration with brain iron accumulation 89Cg \,1| d0Combined oxidative phosphorylation deficiency 17cg 8 ".Xn4Myelodysplasia and leukemia syndrome with monosomy 7Q /PHyperprolinemia, type II   $ A [[6[7 sOculopharyngodistal myopathy 3DZeh9 0 j   jmt,voz2 kCraniosynostosis 7S1)Parkinson disease 15, autosomal recessiveR4C ]|  %],0wzkSpondylocostal dysostosis 5 Z y D [ f*Immunodeficiency 108 with autoinflammation  %+c,dl.R׼Syndactyly, type V T)%%&3&):% ` Keratoconus 63 Neuroblastoma, susceptibility to68 o ] [)/,....{  d7 /Cataract, zonular pulverulent 3*+rPrenatal bowingWk h!Ciliary dyskinesia, primary, 32> S n+e/// _ eCiliary dyskinesia, primary, 29 >\,// 0Glycogen storage disease IcS]a67Zz,e D  8'((/0aB? ozCoffin-Siris syndrome 8>@  8 Z .lJ -mTrichodental dysplasia `2(Thyrotropin-Releasing hormone deficiency 5,I  -, f8Bardet-Biedl syndrome 15! Ym Myopia 15!O ZSantos syndrome 0 )(/Glycogen storage disease III,sf ^  ~ m.[6EHemolytic uremic syndrome, atypical, 8, with rhizomelic short stature]B\fQSVZ`o  o14NgSpecific granule deficiency  ,..1.RSTUVU DMeckel syndrome 3 s&%(\0Intellectual developmental disorder, X-linked 82 1 Z a\TInterstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital#S\]ad7<2 S   'T *+/,Multicentric carpotarsal osteolysis syndromeS]EG[6  %Z%,,1*xtxxX \0Factor V and factor VIII, combined deficiency of 5 #"Acrocephalopolydactylous dysplasiai<qyF 0Ss) |Z|t)Dihydrolipoamide dehydrogenase deficiency4g ^ 8  .G uERetinitis pigmentosa 93&m ,}J d~Diamond-Blackfan anemia 12]gh v>Q"1Spastic paresis, glaucoma, and mental retardationgOElectroencephalographic peculiarity: 14 and 6 per sec. positive spikephenomenon 1Hay-Wells syndrome*/6,G 148]k S &,ypAg e+Diarrhea 7, protein-losing Enteropathy type    4',.H ?2-Spinocerebellar ataxia, autosomal recessive 1& #49 * Z g \mnHXc)*O ^RSIntellectual developmental disorder, autosomal dominant 6, with or without seizures5 4U 1 P4TMucolipidosis II alpha/betaai<UW[\r 'S`i Icghu{H u q |  5 l  V _  O!!+""#&),P,,0au[ucu| g0Combined oxidative phosphorylation deficiency 23cglg 8  %'h ,-..%Robinow syndrome, autosomal recessivek/6;<@Ky~<BW[fmqF}f[-=t Z y | |H!!g#$&L&&'G(4(9*4+,(..0P0au wT-Craniofacial dyssynostosis with short stature/UU\e5 ]kG+.Lx0Nystagmus, congenital motor, autosomal recessiveP (4Venous malformations, multiple cutaneous and mucosal 1:@T"Insect stings, hypersensitivity touE5Brachymorphism-Onychodysplasia-Dysphalangism syndrome 3t|*t$Osteopetrosis, autosomal recessive 1$mUjSQTo U S  J))**c[|f t?Immunodeficiency 94 with autoinflammation and dysmorphic facies /<fq5u3 Z  )v*++4TDevelopmental and epileptic encephalopathy 85, with or without midline brain defectsH&7?BDEUfFY1 @i]_[ 1 Z | "$'G)*,P.0a0uy|E wl)Hemolytic anemia, G6PD deficient (favism)   %9_ Z, ,,NrBC t,Bryant-Li-Bhoj neurodevelopmental syndrome 2) /W\mMf A_o Z ) qo!&%+,(.0h`8Deafness, conductive, with ptosis and skeletal anomaliesqbʜ&Neural tube defects, susceptibility to   !"(A/9Methylmalonic aciduria, vitamin B12-responsive, cblB type"lQSTo2j ` g I  '",/X9 l!Deafness, autosomal recessive 106m67Ogden syndrome"iq4<BQW[\qC^{.]_hkow<Qcm )+,8G Z  X | q?ioe+G""&"&H'G) )**3+,P--./.bxz? $\ DISTICHIASIS& r=Immunodeficiency 78 with autoimmunity and developmental delay bp>  |,N,}A [ XMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4   , su.Immunodeficiency 82 with systemic inflammation3Yj- o*>   "   pb&E*+,/S/0czz}E\ ][-*Anus, imperforate<FSjogren syndromeIZ n oTurnpenny-Fry syndromeR)/Qquo(0@Mf_bk{5  U 6 z ]j!g""0uw w3 .Leukemia, acute myeloid$Porphyria, congenital erythropoietic /09<QV %,x$}Y~[Qk)Angel-Shaped phalangoepiphyseal dysplasia "# aU)Mitochondrial pyruvate carrier deficiencyW /2g 8 &f wg! g_(Lethal congenital contracture syndrome 8E[E x m4. $Hypertrichotic osteochondrodysplasia(Whko q o E"v'G'T'}+[Treacher Collins syndrome 1"[y1<|[ X[`!g%R%S[`4Hemolytic anemia due to elevated adenosine deaminaseV X^/d= -X,Periodic fever, familial, autosomal dominant6 ] /0bxy= ) -KCardiomyopathy, dilated, 1C, with or without left ventricular noncompaction clm -wu9Cubitus valgus with mental retardation and unusual facies B & r[VIntellectual developmental disorder with speech delay and axonal peripheral neuropathy  92  m,8 eAicardi-Goutieres syndrome 7Cd56 4@Yug QTVo  *W H u  I  '=""%),,./S0aDHoloprosencephaly 168YCi )L#&&.2x;( Geniospasm 10 qgNeurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements4 1  "/`l/&Ossified ear cartilagesVdIR2  | *3+.60`0;O?Hypoparathyroidism, sensorineural deafness, and renal dysplasia]dny=W r "1N eS=Cortical dysplasia, complex, with other brain malformations 5 (@G =  E&*Y,P0T a Cortisone reductase deficiency 2 W%0{[9[l t#4Epidermolysis bullosa simplex 2A, generalized severe  '  6Epilepsy, benign occipital 18 X@Factor XI deficiencyd= nWarburg-Cinotti syndrome$Kfq,E"j; BN&+&E*,.1d}kQpU2%Mercaptolactate-Cysteine disulfiduria G g g9Long QT syndrome 15~%'@,,w{p aC,Adenine phosphoribosyltransferase deficiency S %,@[;/#Thumb, distal hyperextensibility ofZ vg3Mitochondrial complex I deficiency, nuclear type 39/_gho 8M-.11E%Dentin dysplasia with sclerotic bones+4XJLaryngeal abductor paralysis EIU (C[Arthrogryposis, distal, type 10 [  4,ucg .'Megaloblastic anemia, folate-responsive p X %c[{h F/4Charcot-Marie-Tooth disease, dominant intermediate D  x 2 mCOptic atrophy 6 "e],a CHOROIDEREMIADms%9q,w) *Immunodeficiency, X-linked, with hyper-IgM)CrQSV H  !  +g#((,/S0x\y BGHypoplastic left heart syndromer* r44Mitochondrial complex IV deficiency, nuclear type 16 8] g H u   $+Y.' dOtosclerosis 10j: SDystonia, focal, task-specific 4 G+Corneal dystrophy, crystalline, of schnyderkPGSkeletal dysplasia with delayed epiphyseal and carpal bone ossification  \ gq&t'2)S HT5Charcot-Marie-Tooth disease, recessive intermediate A Z x 0 7 ; u  jm#C&f+X,C a+Nystagmus 7, congenital, autosomal dominantM{Neutropenia, chronic familialSP) ucNeurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomaliesD] 7 Z u  ,* +,zt}4UMicrophthalmia with hyperopia, retinal degeneration, macrophakia,and dental anomalies"8!3i MOMO syndrome"<?QW\jqo ) !a>-Cataract-Ataxia-Deafness-Retardation syndrome  x!u(6Epidermolysis bullosa dystrophica, autosomal recessive/ 3[<ot ,  +S  Y r)Sulfide:quinone oxidoreductase deficiency 8 1E ^Hepatic lipase deficiency<k 4/`nMultiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsR4<QW[q5>Pn?B Sf_bhow0<r 8 Z ) p!g!"&+./?0P< /V(Diabetes mellitus, insulin-dependent, 103k g'Fanconi anemia, complementation group T mQTo &2&)9 M C5 deficiency6cZ$P [Cardiomyopathy, dilated, 1FF cl %,1z '0Pancreatic agenesis and congenital heart defects$I3{]_djkw|  "  $?#,-5-=-[-m-z PAicardi-Goutieres syndrome 3 4CQ ^\%,P0 -Congenital disorder of glycosylation, type Iy/[ ]2 Z :.uh I@Deafness, autosomal recessive 32, with or without immotile sperm /2@ Y'Chromosome 15q26-qter deletion syndrome/6E[qE M iCowden syndrome 7 Uh O 12,u{ HQL1Neutropenia, lethal congenital, with eosinophiliaSXZ*Hyperinsulinemic hypoglycemia, familial, 19-}MXd!Macular dystrophy, vitelliform, 2J\{&S#/Spinal muscular atrophy with mental retardationeJXJohanson-Blizzard syndromeH/6~WF35@D Rfsw~ =]_l 9 U \ "qz!" "/x||}ji -&%Charcot-Marie-Tooth disease, type 4B1  Z x gmu.() jj6Muscular dystrophy, congenital, Davignon-Chauveau typef Z 'gN.~UXd P[Z M[,-G = Z ~  %]u#&#,)./u1vo\ w/Dystonia 37, early-onset, with striatal lesions %)',|< Bx$Faciomandibular myoclonus, nocturnal8R"Choreoathetosis, familial inverted X -)Agammaglobulinemia 1, autosomal recessiveS> C Ph*+d,@ ^ Deafness, autosomal recessive 89 4 [mTRICHOTILLOMANIA</ sz0Combined oxidative phosphorylation deficiency 52SNuggj >  @ z.||B mJNeurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy,@CGHX J \*n*p,5Glomuvenous malformationsU Adiposis dolorosa  8  0Z00 mErythrocytosis 6klm G"Pontocerebellar hypoplasia, type 3$%Wmq}')C  = u  \"/NwtSpinal muscular atrophy, type I ]_- u > u 'e#"g4Juvenile polyposis syndromeo  T *asC gDeafness, autosomal dominant 40,SSpastic paraplegia 34, X-linked Cy ])6Y 6)Thalassemia-beta, dominant inclusion-body.NpcSaethre-Chotzen syndrome1&<DG\mq-JfM[ & T v uqIX[!g&&&'x,;0Pw[Laryngoonychocutaneous syndrome LO' ; jm [)Cardiomyopathy, familial hypertrophic, 15 cg, ; zVzW|}\ e =ADeafness, autosomal dominant 39, with dentinogenesis imperfecta 1h!Tn Spinal muscular atrophy, type II , J ^ e~t:Mental retardation, skeletal dysplasia, and abducens palsy  Z \ o!( OTOSCLEROSISjyMuscle glycogenosis, X-linked,  m q##[v[Fz;Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome) 0CHKxy B  %X*p. |$Osteopetrosis, autosomal recessive 3<oW LU *P [,Plasminogen activator inhibitor-1 deficiencyd n j&Myopathy, distal, with rimmed vacuoles 0 n k#C)Nz t*Spastic paraplegia 86, autosomal recessive@C E Z  'xv d*Spastic paraplegia 57, autosomal recessive<,C *4#,|n q)&Intellectual developmental disorder 62)f Z 1A k%Preimplantation embryonic lethality 2~Scalp-ear-nipple syndrome;SYz/fqzEYd6!0RctqS5,!g&+,,(-.0*cSenior-Loken syndrome 1SZg,o %w,Nk dImmunodeficiency 18` "  *,v-y}B Er5Ichthyosis, cyclic, with epidermolytic hyperkeratosis;= '3*cI iq,!Arteriosclerosis, severe juvenile67izo JcXN&K1Nue nQ#Pontocerebellar hypoplasia, type 1D/<q5 ,CD[L -H L u \tZ",.0eb dZVentricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness y u,z){R 2Factor VII and factor VIII, combined deficiency of  5%",Spondyloepimetaphyseal dysplasia, Irapa typea [ ) z &`'A)K iPaget disease of bone 6 y ] S I k8!Glaucoma 3, primary congenital, E/1 `5Neuropathy, hereditary sensory and autonomic, type VI'Kq /=6 '[W]q~8 S  (C*.12d f5Bardet-Biedl syndrome 12H~ & (u:{  o3Arthrogryposis multiplex congenita 3, myogenic type [+ Z ? \gu,1vo| f/Autoimmune lymphoproliferative syndrome, type VY`b>  "0i}92\Atrichia with papular lesions: gzVMyasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency ',- ~ K .v rqTNeurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities)BWCEgG  & Z > 'Sj%&*p0w1jx|z.7Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant%8 ? I^"=,`:Short-Rib thoracic dysplasia 6 with or without polydactyly*6>q,x(s@]_)  <,*.| i>Microcephaly, congenital cataract, and psoriasiform dermatitis7 J ,[q[r=ǮSinus node disease and myopia*-- ^9Ventricular tachycardia, catecholaminergic polymorphic, 3y%@,,{|LPrune belly syndrome with pulmonic stenosis, mental retardation, anddeafnessH~j(S$Splenoportal vascular anomalies 3rsQ.ACROOSTEOLYSIS%&+' Z)Pituitary hormone deficiency, combined, 1"5I |  ")+p+..ygyz}6: \a *Gallbladder disease 19:st ^ S .u iIOptic atrophy 10 with or without ataxia, mental retardation, and seizures '[e(,wT<8Cardiomyopathy associated with myopathy and sudden death ~B j*Sessile serrated polyposis cancer syndrome}g Yn'Cerebral creatine deficiency syndrome 3  ? a[[l u3Tessadori-van Haaften neurodevelopmental syndrome 4,6Lz<BU[fmqf.<u Z / sS*3,6..05 ]!Complement component 9 deficiency0 7?Cerebellar ataxia, deafness, and narcolepsy, autosomal dominantC 2  \Z,bubS6+Pituitary dwarfism with large sella turcica58G h.8Hair defect with photosensitivity and mental retardation cLissencephaly 5m(%T 0 = \\,P~Renpenning syndrome>/Y/BE[mz8FMjC$K]_d  Zq"%%&%0a n]Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development"Z Z 6 x %] #C,|[ K'Fanconi anemia, complementation group J 8 "&23Protrusio acetabuli k xvo2Mental retardation, X-linked 90F%j2 OxLoeys-Dietz syndrome 2C<[AP);Sf_bkow<  8 Z k  %EIP[_j>%),./0a0xzB' I-Congenital disorder of glycosylation, type Ik<[ [f :*YXxNemaline myopathy 3(*'Cl - 7 Z u ju")< 7 Deafness, autosomal recessive 20m* )5CODAS syndromeC )^AD]_w G $ Z g z ) ( i Y  ' V%T%&K&'A)Q*B0P[q!Spastic paraplegia 23[C Z k&f, gcLichtenstein-Knorr syndrome ) \,/|=^h%Thyroid carcinoma, familial medullary 1O U/#Epilepsy, familial temporal lobe, 4 - P"=+ a]4Hyperphosphatasia with mental retardation syndrome 2!L<mF}M_ G S | i'G*4,4,>| ]@Hirschsprung disease, cardiac defects, and autonomic dysfunction6fz6[]_kqU | %0,TTemtamy syndrome%<W[q!78d;{]G  'N.d (Pseudovaginal perineoscrotal hypospadias !0362;H~~hnLColoboma of optic nerveoptic nerve head pits, bilateral congenital, includedLy Z)Hypotrichosis and recurrent skin vesicles + Nbvn eHMeesmann corneal dystrophy 1ek`&0 WTrehalase deficiencyN7Platyspondylic lethal skeletal dysplasia, Torrance type)qs)2 e g l KT!""&b.0P m-Developmental and epileptic encephalopathy 62 @N  ',,` Up%Seizures, benign familial neonatal, 1 E k'M [Spinocerebellar ataxia 30  ]fjz&Mullerian aplasia and hyperandrogenism z+% c$dl}I0 _Myelodysplastic syndrome / m:Intellectual developmental disorder, autosomal dominant 481/q}()@Mf]koN 8 = Z  ',y"&%*,,D wSpermatogenic failure 86 ,2A2Ea[uH lhSpermatogenic failure 18 ,/./0q _5Hypermethioninemia due to adenosine kinase deficiency"<,tuj X  '\*Y,P1|EPRadial-Renal syndromeVzy&1L) Ear without helix+p~0Hypogonadotropic hypogonadism 24 without anosmia  8",.v- Hardikar syndromeC HLS~D6rstw]_kwQ   0  X ^ ?sY*.0*1uuvyj|}bvBHyperlysinemia due to defect in lysine transport into mitochondriaq I: `KAtrial septal defect 9o, _ )c;Angiokeratoma corporis diffusum with arteriovenous fistulas/S- ZGlaucoma 1, open angle, O/Lv gBPulmonary fibrosis and/or bone marrow failure, telomere-related, 3  z|~U~V2Jumping frenchman of maine.ZDermoids of corneaYAXAase-Smith syndrome I y[]VB _Y*Hyperpigmentation, familial progressive, 1.Congenital disorder of glycosylation, type IIr/[qu ^ 0 } nr\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5NX u,-1wD .mQuebec platelet disorderQ`d,Cholestasis, benign recurrent intrahepatic 1 m \/ d-Congenital disorder of glycosylation, type Ix.6Q2,.09v k.Congenital disorder of glycosylation, type IIq ^ l*B*U.090|Silver-Russell syndrome 1/EE[P8zZ k Zq|U(*un D#Coenzyme Q10 deficiency, primary, 1*]`ad</089wgToUx| 8  D0ZAeI 6!Hypercholesterolemia, familial, 3<Z 4*z|D uPremature ovarian failure 20e  (,. aLoeys-Dietz syndrome 4.b <);fbo1; 8 ; W Z k CPj(*90d+B'5Polydactyly, preaxial III f Orofaciodigital syndrome XIV1'64[fqFL ():@P ]_k%N s e "1&'G(9*p+=.1'}vA_ -3Holoprosencephaly, semilobar, with craniosynostosis qX[!&R N*Hyperinsulinemic hypoglycemia, familial, 79J}_ft3Migraine with or without aura, susceptibility to, 1e#,Syringomas, multipleH oSpermatogenic failure 37 ,/./0qA s`Angioedema, hereditary, 4,.z 9CZ'Gamma-A-Globulin, defect in assembly of b"Peroxisome biogenesis disorder 14B"!,/ 1 %7 tOocyte maturation defect 12 7>F:Optic disc anomalies with retinal and/or macular dystrophy,-/78dh  -7?Platelet disorder, familial, with associated myeloid malignancyQ i /  ,.^000z a-Cornelia de Lange syndrome 4/<?Wq}>FYdG  v y |qS ,0P&Pseudoxanthoma elasticum, forme fruste!=P`N>b J Z fV0ccCPulmonary edema of mountaineers&&oLEctopia lentis;&@Angiomatosis, diffuse corticomeningeal, of divry and van bogaert6cGX 0Y0 s?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)<H /LI c!Atrial fibrillation, familial, 146 // twJNeurodevelopmental disorder with hypotonia and gross motor and seech delay   j*pI 7!Epidermolysis bullosa pruriginosa t [ cNemaline myopathy 8U,[ >),. lSkraban-Deardorff syndromeA%<BPU[!FB@]GX E z q%&*0...01bb| wVdNephronophthisis 1 Z\gl6o V5Fingerprint body myopathy ~ @"_Mental retardation, microcephaly, growth retardation, joint contractures,and facial dysmorphismW]> q0Combined oxidative phosphorylation deficiency 477Wfq g ^(P$Snowflake vitreoretinal degeneration- /w}qv FG syndrome 3 'G+,(.0XS (Facial clefting, oblique, 1 8M\ /{X_Retinal degeneration with nanophthalmos, cystic macular degeneration,and angle closure glaucoma "8Rm\7=#Intellectual disability, Wolff type rSmNeurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessiveY C[ Z  &f*N0bfbu|^] _*Leber congenital amaurosis 16 ec ' Down syndrome1F5@f]_dkw< 2 n |?e'M!g(L**80Pd8diuPHYPOGLOSSIA-HYPODACTYLIA [&01* \pMyxoid liposarcoma/@,Syndromic X-linked intellectual disability 7D T{ Deafness, autosomal recessive 63J !Oh Mental retardation, X-linked 101B  u? gIPeeling skin syndrome 3;%* 83Mitochondrial complex IV deficiency, nuclear type 2) Ag 2Gg{ 8 ~  'W ./0zV}. X Cryoglobulinemia, familial mixed ]6O //1N_ ^Hermansky-Pudlak syndrome 4 Sd+FU r]!Mismatch repair cancer syndrome 4  k%x/0 s VISS syndromet~ 4<[fqzP}5fi<]_bkw.,.13; H  0 8 Z ) kIJPj o(9)*9*-C-K.+./0bzB|}}=]B= COTAmyotrophic dystonic paraplegia4 / i*Spastic paraplegia 76, autosomal recessive  ] [ Z x > %J&f,,1S1Mental retardation, X-linked 41 0I"*p Pseudotrisomy 13 syndrome'6Yhfq8FY-Cn )P]_s&$&N yS#&-? sDeafness, autosomal dominant 81,^ L.Myopathy, autophagic vacuolar, infantile-onset'g ~  BWSymphalangism, distal, with microdontia, dental pulp stones, and narrowedzygomatic archC&K&s&(.; d;*Basal ganglia calcification, idiopathic, 5W~   2 J  %\,,a4 n3Mitochondrial complex I deficiency, nuclear type 13g~ 8 H  '+..N i8"Woolly hair, autosomal recessive 3&(Polyglucosan body neuropathy, adult form O j x B I n  ]H;4Methylmalonic aciduria and homocystinuria, cblC typeAS]p?\qD  9q~QSas,Hlp 7 ` I Q   %'J"",,/Xz (6Warburg micro syndrome 1&U[q8()Cf5  1jX[ w8/Prolonged electroretinal response suppression 2e,w/w0X m4Amyotrophic lateral sclerosis, susceptibility to, 25 ,R 8Cataract 2, multiple types e)*hd ^ | '= &).Rz W$+Ectodermal dysplasia and immunodeficiency 2 4+j+p+v t:Dyskinesia with orofacial involvement, autosomal recessive 5489f 7"a-Retinopathy, pericentral pigmentary, dominant ,DjQ9n :"Muscular dystrophy, congenital, 1B  > ? #)//F cWahab syndrome &2'A0auy%)zPYGMY2 nJaberi-Elahi syndrome1Uq!,49DfkX Z | ,P,1_z+Chromosome 16p12.1 deletion syndrome, 520kb L 'Exstrophy of bladder 'HUz T x$ ^LipedemaW Z-Chromosome 19q13.11 deletion syndrome, distal3/0B[\qE}5t E |q""):,16 (Dyslexia, susceptibility to, 2)dGM1-gangliosidosis, type I&O</kcglv Z  !) uK#Leukodystrophy, hypomyelinating, 245[ G H o g '*1c< nkSpermatogenic failure 29 ,./t q8Arrhythmogenic right ventricular dysplasia, familial, 14  % ,-| h-Epileptic encephalopathy, early infantile, 35Tf U .0 a)AThumbs, stiff, with brachydactyly type A1 and developmental delay$ U5Renal tubular acidosis, distal, with hemolytic anemiayV T6 auTI :Panbronchiolitis, diffuse>C\01xlxnxo uA.Chilton-Okur-Chung neurodevelopmental syndromej )/6 %&/<?BQ[\qF~q(6Mfkw3 B Z 6 'Q`Uj$&%&(8)S)**,?,0xdPl [ b:Joubert syndrome 20k@- s TI SGlaucoma 1, open angle, Hc /L1^[Hypouricemia, renal, 1] M !dmdnl@[jJ mMultiple synostoses syndrome 4j5 Y)Brachydactyly-Nystagmus-Cerebellar ataxia'A)s v Intestinal dysmotility syndrome!q   '.x o-Epileptic encephalopathy, early infantile, 7251   "0bx|` E w-)Oocyte/zygote/embryo maturation arrest 19 ,\<4Dandy-Walker malformation with postaxial polydactyly 4qskr  9  vQRespiratory infections, recurrent, and failure to thrive with or without diarrhea+Ftb,.3> ;  '<+,/1b[wxlxn Tq lYCohen-Gibson syndrome/b7<Qq! [f k) B Z q 2 ,(./0a6AGyrate atrophy of choroid and retina with or without ornithinemia !j uk,./xw"* h]6Short stature, microcephaly, and endocrine dysfunction96VYzEKT\Y35WTl`oGX / u >\"&b&un M/Joubert syndrome 4SZ; (| d s .] Pearson marrow-pancreas syndrome*wQSThotf X ^ 8  ' *,,.S+| kVOptic atrophy 110m!a)@EGg  0 x  j))+./0*Varicose veins ;/ dRetinitis pigmentosa 67a oE5Epidermodysplasia verruciformis, susceptibility to, 5`SN} kcStickler syndrome, type III ` )T. o3Mitochondrial complex I deficiency, nuclear type 23 4g Z  \.|K O'Polyposis syndrome, hereditary mixed, 2 k//$(Nemaline myopathy 2, autosomal recessive;<Wq'[ [ 8 7 Z 0 < A u  ju{#C./1ukvo.RPineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities(/:?J  Z!.0-դGalloway-Mowat syndrome 1AS]ad<T[q84C G 8 =  ]lO"%..0a4|TEpidermal nevus, somatic 6X9Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant/ [fmqE5l7  *p. bRevesz syndrome+<) S{X ( B   ,z f"Leukodystrophy, hypomyelinating, 94C/   [ o u  p "./ ?Dementia, lewy body ?Hv Nephrolithiasis, calcium oxalateJ W!,=ZMonocyte chemotactic disorder J%Marfanoid habitus with situs inversus/!lbj{ 8 Z 6 hD8Emery-Dreifuss muscular dystrophy 3, autosomal recessive,k Z E \t,-X I'AICA-ribosiduria due to ATIC deficiency?q5 V o!*+[p)McCune-Albright syndrome, somatic, mosaicDmj:DKMf ] M .%) H[[ rr3Vertebral hypersegmentation and orofacial anomalies []Pf k +.V bMicrophthalmia, isolated 8 8am ,1lT|Systemic lupus erythematosus{YQVZ6 bV+Apolipoprotein C-II deficiency k 4/{0Hypogonadotropic hypogonadism 23 without anosmia,67el8 " (!*%/dlvS _Feingold syndrome 2 ]|Sl"%i&2&3+\r0Split-Hand/foot malformation 1my/9$'GuwP nImmunodeficiency 15A  '+d,vz<< bSpermatogenic failure 11 /2@` ce8Hypogonadotropic hypogonadism 19 with or without anosmia,mkCone-Rod dystrophy, X-linked, 3!$'[eB xi~:Hypertrophic osteoarthropathy, primary, autosomal dominant %0XA)-,xw~ aWBPulmonary fibrosis and/or bone marrow failure, telomere-related, 2 rTu{ 0$S(Lissencephaly 2 T);/N8 Upington disease %E"l_k~/Neuronopathy, distal hereditary motor, type IIA ( ) u #]8op Myoclonic epilepsy, Hartung typeKZ.Huntington diseaseC{ i|.Congenital disorder of glycosylation, type IIO rw 3 ^ 4 E  )*U09b 71Autoimmune lymphoproliferative syndrome, type IIA$d{QXbcp I # % k } ~ %bZ2Persistent mullerian duct syndrome, types I and II !ynRamon syndromemD Z 1!k DLissencephaly 1);G = l"0|~N _2Epilepsy, juvenile myoclonic, susceptibility to, 9I E ,J)Spastic paraplegia 9A, autosomal dominant# 0C O  [ T %]t ,|S _S/Hyperuricemic nephropathy, familial juvenile, 3SewEcKniest dysplasia)7!`2 g Y   O"". C g1Myasthenic syndrome, congenital, 4B, fast-channelZ',- < K  .uvvoF /.Deafness, neurosensory, autosomal recessive 18 s}.Spinocerebellar ataxia, autosomal recessive 29@   ",1wlFlynn-Aird syndrome!k< M jD&f*G T?Cataract 33, multiple types%#, i8Spinal muscular atrophy with congenital bone fractures 1!4< ,[Vcfkw) S w te# wRLeukoencephalopathy with vanishing white matter 2, with or without ovarian failure e 0 2 t ^N-acetylaspartate deficiency X l,1b^ a"Peroxisome biogenesis disorder 11B m<, ,..8 uSpermatogenic failure 66 ,/w se;Megacystis-microcolon-intestinal hypoperistalsis syndrome 4   *,1 pf4Spastic tetraplegia and axial hypotonia, progressivefq@C5 g L k  X",= H!Familial adenomatous polyposis, 2 k=bCleidorhizomelic syndromeyq|" vCCardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies ,mu.,zW{}\RM `a)Microphthalmia, isolated, with coloboma 78d {}AȎLysine malabsorption syndrome P=`QMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesZ36c a 8 ~ *!-0Y`A)Toes, relative length of first and seconde r1Proteasome-associated autoinflammatory syndrome 5 k'3?CMental retardation, X-linked 73< <Schizophrenia 10*~*Mental retardation, X-linked, syndromic 33Q34<PWmq!C! #()49fiG] Z X]Cj!"&+,...P I c-Microcephaly 11, primary, autosomal recessiveqPick disease of braina{ )!vvCM 'Cleidocranial dysplasia, recessive form ^'Mosaic variegated aneuploidy syndrome 21 E[mqEY58S]_{5 |q"")'+1u9 h t%SIMHA syndromem5 Z  Q*p.bu[|u KSchindler disease, type I 8C H  t*p`= St/Epidermolysis bullosa dystrophica neurotrophicatP !O1Alopecia, androgenetic, 1<0-j THREONINEMIA f4Abnormal hair, joint laxity, and developmental delay Mf<uH H LQS`<&.0Z0b}f,!P Hairy elbows m;Short-Rib thoracic dysplasia 19 with or without polydactyly>  Wqx ])2 > +.8 _46,xy sex reversal 8%>/ ]p*Spastic paraplegia 51, autosomal recessive))3BU'C[GH  u  '*p,c|b l[Orofaciodigital syndrome XVIq&8G s *p.1Z [&Hypokalemic periodic paralysis, type 2 . T%dmzx=LPalatopharyngeal incompetenceH s(#Pontocerebellar hypoplasia, type 1F?W\P) /N0F t<ZNeurodevelopmental disorder with impaired language and ataxia and with or without seizures7m @8G  P e'j")!*8+Y0Nb|_`fs s3Retinal dystrophy and microvillus inclusion disease u> '՚CBand-Like calcification with simplified gyration and polymicrogyria)S4TWq)4;CkwQGN ^ j 'O"At s8Bleeding disorder, platelet-type, 24, autosomal dominant Qd .^._.e~$d Uvula, bifid [9(Cutis laxa, autosomal recessive, type IC3~ <TW[ Cf.AOWw<)1 9 i..1Kbibj B Cree mental retardation syndrome/0<E[fqM.8):a|Otofaciocervical syndromezks! U j:Intellectual developmental disorder, autosomal dominant 434<B\F4@ij  u  !g&%&+V.0b|hfCraniometadiaphyseal dysplasia/quBK U Z q ) S+D x$Developmental dysplasia of the hip 3^  FIntellectual developmental disorder, X-linked, syndromic, Pilorge type *, ZH*Spastic paraplegia 50, autosomal recessive"/BU'CG{  *p2  o 3Mitochondrial complex I deficiency, nuclear type 29,[g.g 8  < %@u,.0Zdnx6\ jQ4Duane retraction syndrome 3 with or without deafnessmz&OImmunodeficiency 61  " j +d}\ [Miyoshi muscular dystrophy 3   "##V#Z#], d>#Interstitial lung and liver disease 5rstuwfo-. 8  '\u,01x||k d'Neuropathy, hereditary sensory, type IF  (  >%&+,=Orbital margin, hypoplasia of4DHLacrimal duct defect4l&x  qSuleiman-El-Hattab syndrome4~4<?Wmq>u ]_w   (,G.uxg 'Retinitis pigmentosa 13 "m%9,,,0ww_Poland syndromes yxV#3#B.v!s ]Retinitis pigmentosa 596Sm ^%",.^ +>Aplasia cutis congenita, high myopia, and cone-rod dysfunctionp*t S(Muscular dystrophy, limb-girdle, type 2L  \u##A#Z),;40Spondylocostal dysostosis, autosomal recessive 1 y Z ^ ,[ QxFactor VII deficiency dz,/= v!Deafness, autosomal recessive 120 G e-Retinitis pigmentosa 68Qc9,\+Metaphyseal dysplasia without hypotrichosisf; T 'A',zmtIMale infertility with large-headed, multiflagellar, polyploid spermatozoa ,c]BLEpilepsy, focal, with speech disorder and with or without mental retardation H M P |j*C+Z,1 { UASpondyloepiphyseal dysplasia-brachydactyly and distinctive speech.7WEF[IT'+ _ g 2 0H!g""&K'A)Y.-Symphalangism of toesE P)THIOPURINE S-METHYLTRANSFERASE DEFICIENCYO W$Osteopetrosis, autosomal recessive 7 o " ',*|f?C pUsher syndrome, type 1M, sWhite-Kernohan syndrome1HU~%q>FY}5fi  6 | %Mj*4+,B,.1NMNT (Spinocerebellar ataxia 4  f x \:@Cataract, lamellarn#)*M1Adenosine triphosphate, elevated, of erythrocytesmv?Osteochondrodysplasia*ZqWf)2 Z a 5 l Y"&K'A')V)Y+Donohue syndrome7(Aiq:J stg)t \  Z '5L!"".0x0xLx> -"Ischemic stroke, susceptibility to G P7Retinitis pigmentosa 33*9 qCEBALID syndrome% <Ufmqy> MNw  |&+,P..0P GHermansky-Pudlak syndrome 2/?WfqFeSQS Y"g#,N/4Glycogen storage disease IV#,[rwf~  iLuscan-Lumish syndrome"/3\Z F )G   u D&+b h)Silver-Russell syndrome 3>Eq(k q"& +.1W w E,Charcot-Marie-Tooth disease, axonal, type 2E [ 7 Z x 0 7 g%m>"#A#C#]#),X g8(Lethal congenital contracture syndrome 6 *w` t0Hypogonadotropic hypogonadism 27 without anosmia% Nvv Z@Bartter syndrome, type 4B, neonatal, with sensorineural deafnessSg[ V T V b ) -*/1= ulDOsteoporosis, childhood- or juvenile-onset, with developmental delayVX  &,}.| bAlazami syndromeBEq Z *p01f1GƆ+Lymphoblastic transformation, inhibition of | !$Wolfram syndrome, mitochondrial formH~j3iQSa0, j3),--.bu;% ` Keratoconus 736 ` Diarrhea 6 [3MC syndrome 1/~<m EQ]_k v qX[H"$&A[ p-Epileptic encephalopathy, early infantile, 83 TUWq1@CH H )F""&,P0 q-Epileptic encephalopathy, early infantile, 87<Y  Z*6+.0R k2Amelogenesis imperfecta, hypomaturation type, IIA6# xCornelia de Lange syndrome 6-<Wfqi] Z |  qG''2/ UA7\Coronavirus 229E susceptibility5Erythema palmare hereditarium*Dv,Nasal hyperpigmentation, familial transverseZ O3Myopathy, distal 3  0 ]mn%HLNeuropathy, hereditary sensory, with spastic paraplegia, autosomal recessiveC^ y x Q g m,/y-Dowling-Degos disease /3Bardet-Biedl syndrome 1B6Mm!",36W80s%&3]w B Z %9:"$&N),0i1w iCoffin-Siris syndrome 5 &B>)@_< &&. x;Immunodeficiency 133 with autoimmunity and autoinflammation#"b9  0 Z   'Mu+.y/S01#cK~ w;Developmental delay, dysmorphic facies, and brain anomalies/q>AF E [  '!g)0 uNNeurodevelopmental disorder with microcephaly, short stature, and speech delayF@ *p,|@-l$Developmental dysplasia of the hip 1^"g h7(Lethal congenital contracture syndrome 9$<E[q$[) ~ g%%& *y%Y n3Mitochondrial complex I deficiency, nuclear type 11D{cgg & Z 8 ~ .` ugMeckel syndrome 14$>q4<[q8Psu&[%); <bW*Q!Osseous heteroplasia, progressive %\&b.ay%.Pilomatrixoma, somaticvCMental retardation, X-linked, with or without seizures, arx-related u}  " *pB&Leber optic atrophy, susceptibility toX kJMuscular dystrophy, congenital, with cataracts and intellectual disability - Z ?  \u#,ucf&Methylmalonyl-Coa epimerase deficiency p g /X{8x8Tubulointerstitial kidney disease, autosomal dominant, 1(LSY\]`gkl{6e B V ]  %\or,,./1N1O1P1Q1R;#Pa polymorphism of alpha-2-globulin) e>Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Ha  \u_ a#Nephropathy due to CFHR5 deficiency Sc [\11 aj*Pyruvate dehydrogenase e1-alpha deficiency&W 489 GSg 8 > p 8   $= pG'Mitochondrial DNA depletion syndrome 17w U  .2/4I pLeber congenital amaurosis 19"mìChylomicron retention disease#  J  +/y `)Infantile cerebellar-retinal degeneration,H   *p,P w.Multiple mitochondrial dysfunctions syndrome 77 48CQ8j   'l"*c,-9.011ygMf<.Carnitine-acylcarnitine translocase deficiency ,uf~ 7 ^ [[ l0Combined oxidative phosphorylation deficiency 33dN5fhg ^ 8 ~ %' *c..0Z r34Mitochondrial complex IV deficiency, nuclear type 15D,Ggj Z 8 *C,,0bf f.Spinocerebellar ataxia, autosomal recessive 17!>()4C X  7 <  ],0eMʺ1Spinal muscular atrophy, Facioscapulohumeral type ep rgCoach syndrome 27M6(s s 4 ^ o=C"'Macular degeneration, X-linked atrophic` uNNeurodevelopmental disorder with spasticity, seizures, and brain abnormalities$/<BW\fq(@C[ = 'oM"&*4+N1P ssSpermatogenic failure 54  ,/x/029NTn polyagglutination syndromeU @-Spinocerebellar ataxia, autosomal recessive 2 )9C{   `|Š$Miller-Dieker lissencephaly syndrome5}[fqF;[4 U |q/l"%(+Y0a0c*w|3 MParietal foramina 3$ > @&Maturity-onset diabetes of the young 6(@ vSpermatogenic failure 79 ,/00dHydroxylysinuriaK ^4Methylmalonate semialdehyde dehydrogenase deficiency(<BW\84g ` | ,'G*4./XNo[[[c~HNievergelt syndrome0 )  "*C hPorokeratosis 9, multiple types %, l q4Chronic granulomatous disease 5, autosomal recessivedV`  k &=+f/0fd}9 (Prostatic hyperplasia, benign " hb0Short-Rib thoracic dysplasia 14 with polydactyly#6qq (_)GN  = s .~ y.Developmental and epileptic encephalopathy 116I e ++,001  e7Microphthalmia/coloboma and skeletal dysplasia syndrome/W8Mu:f & S"&+.W Hb3Capillary malformation-arteriovenous malformation 1SbC NuCardiomyopathy, dilated, 1Pcl, q$Arthrogryposis multiplex congenita 59 7W[Fn 4@[.i+ & J S Z _)*p,0a0xFHDeafness, sensorineural, with peripheral neuropathy and arterial disease = jVk!+p c,Develomental and epileptic encephalopathy 94IKU E H *C*Y,..Nz gn#Myasthenia, limb-girdle, autoimmune Uh h K L lOvarian dysgenesis 5   %  (.dl Rc"Osteogenesis imperfecta, type VIII7sf U Z b"\"'A,G|Polycystic ovary syndrome 1l!l )Band heterotopiaMGN 8 ,*p1c~ gYDNeurodevelopmental disorder with microcephaly and spastic paraplegiaUfqY@C[I  \l04Pacman dysplasiaTW) jW)Cardiomyopathy, familial hypertrophic, 26cgmu %@,,--wz? s@#Leukodystrophy, hypomyelinating, 22[  [ e  "b| q#4Striatonigral degeneration, infantile, mitochondrialU8Dgy  7  ,y y uDIIntellectual developmental disorder with or without peripheral neuropathy& 7 '|\:&Right ventricular hypoplasia, isolatedg:#Renal and mullerian duct hypoplasia "UY<[ |!" S%Spastic ataxia 2, autosomal recessive9C  7 L ' %\m,, L!Chromosome 3q29 deletion syndromeBfqqnJFriedreich ataxia, so-called, with optic atrophy and sensorineuraldeafnessP q0Combined oxidative phosphorylation deficiency 46 .`(Aldosteronism, glucocorticoid-remediable O6H[  % ,= E %Bulimia nervosa, susceptibility to, 1; n'Ehlers-Danlos syndrome, classic-like, 2A["3f.br 8 ; S u  i [  'ACpG)B*:,01bxy2[c:Patella aplasia-hypoplasia +O j?Retinitis pigmentosa 75 !%9:|.L oSpermatogenic failure 38  //2A.02a)Tay-Sachs diseasej  9 u   )> pAortic valve disease 3_or 8EB p&Diarrhea 11, malabsorptive, congenital,] H%Corneal dystrophy, Reis-Bucklers type ek O TM^)Deafness, congenital, with total albinismmG#Endometriosis, susceptibility to, 1u *=Frontotemporal dementia and/or amytrophic lateral sclerosis 748CHa  2 C  qiLDiabetes mellitus, permanent neonatal 3, with or without neurologic features ,  g  r+0+ e:Encephalopathy, progressive, with or without lipodystrophy489C k C H \X;lTetralogy of FallotQdqsW nRetinitis pigmentosa 83 m%9k,w[ #Acrofacial dysostosis 1, Nager typeSzD[fmqyz-{aGV]bdk'59N j Z Tq`"-$$%R%%&1&2'2'G'}.0a0uG#Poikiloderma, hereditary sclerosingr g*Basal ganglia calcification, idiopathic, 6W 2 \|FdPrune belly syndromeH~^k(O*vTonne-Kalscheuer syndrome3/6<Q[Y{ 9C>[)X  ",(.lb.t:Short-Rib thoracic dysplasia 1 with or without polydactyly&S]k{"xs%)- 2 \ "]"&K'()V1N|< C} Deafness, autosomal recessive 302Visceral neuropathy, familial, autosomal recessivem   %&f*O0,~W \mLong QT syndrome 13 c'@1xdl)Cleft soft palate bbAicardi-Goutieres syndrome 649QV C H o  '%%,P,./1Epilepsy, reading 1%~ vS.Developmental and epileptic encephalopathy 108I P *C,0bf P ZPremature ovarian failure 10 5  ("".G nPolydactyly, postaxial, type A8t ) fQWilson-Turner syndrome>@b ]+,Chromosome 17q11.2 deletion syndrome, 1.4-mb+b<Dmq+ 0f [) Zj&&&& /udwYZa f!Epilepsy, progressive myoclonic 7 89%\+,L 0Malignant atrophic papulosis | b m-;Intellectual developmental disorder, autosomal recessive 612 /<fq>Cfy 1 Z   ul"*C00| b:Lui-Jee-Baron syndrome  ' G lNephrotic syndrome, type 15]  1#1,m -Nicolaides-Baraitser syndromeP!&?EWf_@<r  Z | ']j &%&K&l'A))*p,_.2 bF{ o3Mitochondrial complex I deficiency, nuclear type 22g- u 8 '.bM ``!Pseudohypoaldosteronism, type IIE6i6 2, k &3-methylglutaconic aciduria, type VIII$ 49k~S 8Ggy >  'l7.1i hoNoonan syndrome 9H<]j)}o j7Retinal dystrophy with or without extraocular anomalies ,Ue %  xkCDiabetes, deafness, developmental delay, and short stature syndrome/< Z%Z*,vvyzc `Hyperekplexia 38D8 '7,0N N2Hamartoma, precalcaneal congenital fibrolipomatous)FL 9yLeber congenital amaurosis 5&< !3@ op(Central centrifugal cicatricial alopecia= Lysosomal acid lipase deficiency)Nrsuw}QZok 4 E  %)24c[xyy|| -,Charcot-Marie-Tooth disease, axonal, type 2D| Z x @ A b c k ]m#,d(Supranuclear palsy, progressive atypical U9 X,Z82Hydrocephalus, nonsyndromic, autosomal recessive 1GQ k@!Atrial fibrillation, familial, 18~,- Xn!Pseudohypoparathyroidism, type IC%75TW U Y m ] 0'A)N:Natal teeth - intestinal pseudoobstruction - patent ductus mGalloway-Mowat syndrome 5]a/<mG:&,,01,5 cLeber congenital amaurosis 17~ jThauvin-Robinet-Faivre syndrome'bkn7<M} ]b)7 ; k h).0uUBN2Polyposis of gastric fundus without polyposis coli* q4Spondylometaphyseal dysplasia with corneal dystrophy<'k S i |&b,Pvp>^Amino aciduria with mental deficiency, dwarfism, muscular dystrophy,osteoporosis, and acidosis  W(Cutis laxa, autosomal recessive, type IA"f .{1 TijaxDIntellectual developmental disorder, autosomal dominant, FRA12A type   j RMicrophthalmia, isolated 58e*9 !3,,/x0xg< cCataract, multiple typesn #S a Dystonia 238RH * 4 \- fr-Autoinflammation with infantile enterocolitisQTo  '#X"+,.|/0ZcL GX\Neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux  "I x >19 o!Deafness, autosomal recessive 115 lMEncephalopathy, neonatal severe, with lactic acidosis and brain abnormalities4@-GHgj 8  ',"&.11{[ r+Insulin-Like growth factor I, resistance to7?EW[q.>F3 T]_w< #$$uv= wJ N*Cataract, autosomal recessive congenital 2  f v6Familial apolipoprotein gene cluster deletion syndrome< J =,/y|7Glutaric acidemia I) 4@  H g N  %',,`XB?Z"Spinocerebellar ataxia, X-linked 5 ' )'`+Oliver syndrome r+3Mitochondrial complex IV deficiency, nuclear type 7< ,gh,Gg o 8 h<.`B?MX!Macular dystrophy, vitelliform, 1cJ;\LMarfan syndromeGb [!5A);[afbcou{0[1; 8 W Z  k  ?j<x0a1ccxD0Pendred syndrome U J !O!jc e4Mitochondrial complex III deficiency, nuclear type 80 A ,Do g H > 8   %\^",.1 oFGonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy1 ;<z?UWfqai= Z  (%):.0PThPreeclampsia/eclampsia 1 ]6Q ^ΔChiari malformation type Ihme   [ Z D I j~*/xq; ['Pancreatic cancer, susceptibility to, 2 N*7Retinitis pigmentosa with or without skeletal anomalies3Uk[q"1S<]H  %:&&'A* ,.0bGw|c[LfWolff-Parkinson-White syndromem%-,,)Diabetes insipidus, nephrogenic, X-linkedgi '"BPyropoikilocytosis, hereditaryV] =9Cardiomyopathy, dilated, with woolly hair and keratoderma<Zcl  &L,cczW o CGlobal developmental delay, lung cysts, overgrowth, and wilms tumori<[  k s~Thanatophoric dysplasia, type I+W) S t u q W"""+.xx oKNeurodevelopmental disorder with seizures and speech and walking impairment?qV 1  q"*.P| B I4Neuropathy, hereditary sensory and autonomic, type V J e  [ %m&f*M,t [+GABA-transaminase deficiencyb)C o'{*c.cV iNephrotic syndrome, type 11\]ad?TU[]l  4\&1#uAY ],Seckel syndrome 4\qn (L x'Optic atrophy 15 [e %,PvOculopalatocerebral syndrome +8 Y LSpinocerebellar ataxia 26   ] q4Sandestig-Stefanova syndrome#Uq8.G 1 >o++,,-g-0abu i&Robinow syndrome, autosomal dominant 356<L<W[\mqFP ]kw Z |G<&K(9*,(.0auA>`Thrombocytopenia 2Q.d0[ c~Ciliary dyskinesia, primary, 21 > S '+e/ ; :Myoclonic epilepsy, juvenile, 28Pettigrew syndrome./(@C[GW & j Z | 'J*p+,/0b|liWaardenburg syndrome, type 2AL 6 cqLHypomyelination with brainstem and spinal cord involvement and legspasticityD ` 0 e  \"),PIntellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato typeBf]_u 8 Zj.0a1T3-hydroxyisobutyric aciduria  8 VV X2Amelogenesis imperfecta, hypomaturation type, iia2#?32'Tongue, pigmented fungiform papillae of| -Stuve-Wiedemann syndromeU%A[qys  IK[),-8 Z | LdthWO"x#$&%&K(:..0,0a12 FFocal dermal hypoplasiaY<BIU~3Dq78d;^f  %/9t   Z w Vz $$&K'<'A)).uU]-D-lactic aciduria with susceptibility to gout@[S oLNeurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination"%>   e ,*C*E*]+.0`v )FIntrauterine growth retardation with increased mitomycin C sensitivityT " _CMultiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia$ ,8gl-2j H o u > p 8 z# .. [ h*Spastic paraplegia 9B, autosomal recessive9@CH  %\p#Cx Pyle disease/,a Z | ) %,N oLNIntellectual developmental disorder with cardiac defects and dysmorphic facies</3<?BEWfq! 0]_dkw5)  Z | G!&))=-31v|8 tSpermatogenic failure 62 .y?{ h`Retinitis pigmentosa 73'[nQcm 9,dlw%wAxB{yw'Acromegaloid facial appearance syndromeT[E0f |&'?,0 b^-Developmental and epileptic encephalopathy 151  *C+Y,P <L Leiomyoma of vulva and esophagusx!}Bamforth-Lazarus syndrome<fq5S m )D.{[t| (Metaphyseal chondrodysplasia, Spahr type )  %s *xw T>%Spastic ataxia 3, autosomal recessive m4CH 0 Z %,,7 IDeafness, autosomal dominant 47A4Joubert syndrome 16kpq,7:Li (Ms&  = s u 7 <g\%*8*L+.bu|W < qMeesmann corneal dystrophy 2e&} OSpinocerebellar ataxia 239Cv  ]AAdrenal hyperplasia, congenital, due to 21-hydroxylase deficiency /6H [ rMyofibrillar myopathy 11K ?  gtu"#,0ZNc~UKD0i(Attention deficit-hyperactivity disorderjy gV)Bile acid synthesis defect, congenital, 5swc X ^ =\/blH T$Osteopetrosis, autosomal recessive 6o*_X e.Pachyonychia congenita 3  N *  Mental retardation, X-linked 104\y19@CH |~ Folate malabsorption, hereditary QSZW   "&f4[v v.Congenital disorder of glycosylation, type IIzy H u 1 ",0 1n w"Ichthyosis with erythrokeratoderma   *bx hi,Dyskeratosis congenita, autosomal dominant 6)T{  (z i.Congenital disorder of glycosylation, type IINmCSf  u 1b g-Developmental and epileptic encephalopathy 2827UW[\"FP1C IU 1 G  'l"&&*+Y++ # wX3Autoinflammatory disease, systemic, with vasculitis8<YstVhQo3  " \ k 'j*+.J.0Zbc#ux?x||B= % ='Myopathy, proximal, and ophthalmoplegiaZ  Z ~ kuL d[ Amyotrophic lateral sclerosis 19   gVMyasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency-').vvo dE;Intellectual developmental disorder, autosomal recessive 37 & 8 a4Methylmalonic aciduria and homocystinuria, Cblj type&<[x7_kQSg ,lp ` I 'J./Xb-Siderius X-linked mental retardation syndromePTFKr ~)AF _*Mental retardation, autosomal recessive 23*p< rSpermatogenic failure 50 "y>p.Spinal and bulbar muscular atrophy, X-linked 19 L B ]j#&fg Z7Emery-Dreifuss muscular dystrophy 4, autosomal dominant u,!RICongenital hemidysplasia with ichthyosiform erythroderma and limb defects2z~[mCr~ [^<) Z Tf ""$$%]%h)***@b o.>Macrocephaly, acquired, with impaired intellectual developmentW\EGj1fQ.-Asthma, nasal polyps, and aspirin intolerance3/ = r s2Ciliary dyskinesia, primary, 47, and lissencephaly ;2>'{r;)Ataxia with isolated vitamin E deficiencyZ4k  c 4 E%*O*zv5 )!Hypertrichosis, anterior cervicalu `k-Congenital disorder of glycosylation, type IR :0|Ad ^$Focal segmental glomerulosclerosis 6 \]ad %\,_ oImmunodeficiency 62> "%4*vv}B` cb8Hypogonadotropic hypogonadism 17 with or without anosmia,m9 n+Coffin-Siris syndrome 76!<Bfmq>]ow  qZ&+..bJ|g jD;Intellectual developmental disorder, autosomal recessive 54 j3Barber-Say syndrome1;@&/<G[mq.  r q#)+,,"F@ mSpermatogenic failure 24//0122 FxCaudal duplication anomalyI n3Mitochondrial complex I deficiency, nuclear type 10 8X 0 >\)',..Q#-Spinocerebellar ataxia, autosomal recessive 3mjh~(Lethal congenital contracture syndrome 1 [) m#, [UMuscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3!)G . /Ncz;Megacystis-microcolon-intestinal hypoperistalsis syndrome 1H *jPrieto syndrome<\qn  q $)*u:Properdin deficiency, X-linked/S N#Bleeding disorder, platelet-type, 8dz -v1Myasthenic syndrome, congenital, 1A, slow-channelUZ l s   %`"##.dmv7 hDeafness, autosomal dominant 69o h7Epilepsy, idiopathic generalized, susceptibility to, 14 IK E%,dm_ XF'Cardiomyopathy, familial restrictive, 3  7N,/1xwze J dSpecific language impairment 5 xCoproporphyria6 q [ &f,./[[:Z 6Long QT syndrome 3m %@,.AS CSenior-Loken syndrome 3 Zgl&<%N"Otopalatodigital syndrome, type IIG/~<[]fq^_.- n U > W"$&2'A'G'})=)?)@)+,(-}.WAchondrogenesis, type II4WxB 2 "[ [[SL'Cleft palate, deafness, and oligodontia<!A'}/? `UV-sensitive syndrome 2  ( 2Muenke syndrome$&<mM tX1j$'G',(.u9u e@-Epileptic encephalopathy, early infantile, 19IU E P *C*b*d < Oi Deafness, autosomal recessive 49 k gjSingleton-Merten syndrome 2r Z%&+,,-c}O rNephrotic syndrome, type 23 ]a%,11#1,z"Q eZ!Atrial fibrillation, familial, 15m z?5"-3-Methylcrotonyl-CoA carboxylase 2 deficiency C< g $  % Y*.@ \ Hyperoxaluria, primary, type III W![q] l!Epiphyseal dysplasia, multiple, 7  `  l  N h\"Epilepsy, progressive myoclonic, 98GKU 7 Z%\t&2&,~G8 v8Muscular dystrophy, congenital, with or without seizures%, 2GIx 7 >  u"+,.0e1bu^+y c-Dyskeratosis congenita, autosomal recessive 5)Z   "(p _Pitt-Hopkins-Like syndrome 2 jX  H Z C*8*p. E nOrthostatic hypotension 2o ,/X1Neurodegeneration with brain iron accumulation 2A$[m< C { H | tX+,11 eWebb-Dattani syndrome L~j8i V 'l 5)+,P-1bLymphokine deficiency o,_Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum4 \ j //Spondyloepimetaphyseal dysplasia, Missouri typea [ 5 !")Yb j66Neutropenia, severe congenital, 7, autosomal recessiveS  ',F| <$Segawa syndrome, autosomal recessive*89 G  "7*;Microcephalic osteodysplastic primordial dwarfism, type III-/TU[7e T[    e g q F$' il7Muscular dystrophy, limb-girdle, autosomal recessive 25  %gju-dl ?:Diamond-Blackfan anemia 15 with mandibulofacial dysostosis[fy2r !g..3Scheuermann disease *T ]:(Cardiomyopathy, familial hypertrophic, 7g |iECharcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasiaR >Z ,Ayme-Gripp syndrome*!/<?W\fmqF  | !g+.0P0a WGlass syndrome:)?QW[\fq8Xt 8 E u  .0abI ^&lMegalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation@K   $(Muscular dystrophy, limb-girdle, type 2H ? I ]gu{#),T-(Thanatophoric dysplasia, glasgow varianto Y (%9Deafness, autosomal dominant nonsyndromic sensorineural 2hm\E)Nail disorder, nonsyndromic congenital, 5 7 :Microcephalic osteodysplastic primordial dwarfism, type II4/TF:rzaT 2  qPZ=!g"#&'2)S)W.: qW0Combined oxidative phosphorylation deficiency 42mVfo 8  ..(Trichorhinophalangeal syndrome, type III ?W Z ow$&K'A()+=d JHDeafness, autosomal recessive 36, with or without vestibular involvement!xYb15Deafness, sensorineural, Autosomal-Mitochondrial type%C ]#Complement component c1s deficiencyh /Se jQShort stature, brachydactyly, intellectual developmental disability, and seizuresA Y<WLTA` | e&&&'A)*C++,G,P.1|d [a0Diarrhea 5, with tufting enteropathy, congenital Y ',G \4Retinitis pigmentosa 54K9U _Tumor predisposition syndrome  * $,/u~K DCardiomyopathy, dilated, 1Mcl 1xY \Fetal encasement syndrome Ud&X&`,.U s%#Pontocerebellar hypoplasia, type 14)4@DQ = &*p/N00B3Cataract, anterior polar, 1n oM?Basal ganglia calcification, idiopathic, 7, autosomal recessive;#4CFW 2  \X0aC o&,/1G Retinal arteries, tortuosity of<=ep } BSeckel syndrome 2/VU[8)TW q,N,u q8[Intellectual developmental disorder with poor growth and with or without seizures or ataxia,  E,N|j.Fibrosis of extraocular muscles, congenital, 1 5A//{{nF.Mesoaxial hexadactyly and cardiac malformation ]_jk 6P Z\0Ventricular fibrillation, paroxysmal familial, 2m j0'Cerebral palsy, spastic quadriplegic, 3A]  Xdoh0Orthostatic hypotension 1, due to DBH deficiencyf e B L 2Mvo[j[[b jT@Short stature, developmental delay, and congenital heart defects*@]_kw jlxWaisman syndromeK|  : \  ,4{ q'Mitochondrial DNA depletion syndrome 19"/m 8g#*Y.04Lb,Mental and growth retardation with amblyopia.4Holt-Oram syndromee W[nr~a]_bjkuw,  # q|< $%%?%i%%&&1&2&T&U&`&e&'2'3()G)---/-g-t----...v!wyzA{:S. U(Fl Knuckle pads^(Laurence-Moon syndrome.6D&f(E>%Second metatarsal-metacarpal syndromeuQImmunodeficiency, X-linked, with deficiency of 115,000 dalton surfaceglycoprotein M .@o x'Lipodystrophy, familial partial, type 836ek 6  %#c' u Liver disease, severe congenitali "/~E[\9Mfuw~]_hkwQZo*  " U V X ^     %'+o)*on*b &E),_.01m11advyz?{{| V`$Chromosome 3q29 duplication syndrome7EBr |15Corpus callosum, agenesis of, with abnormal genitalia /n&PB'5 Z 1*pDeDibasic amino aciduria I ` Q_.Telangiectasia, hereditary hemorrhagic, type 4 >.Z\  V h B R 6.fpThoracolaryngopelvic dysplasiax7B Z ~ 2 " c$Renal-Hepatic-Pancreatic dysplasia 2i stgjr|)5 | A8Spongiform encephalopathy with neuropsychiatric features { 2 dn m0Short-Rib thoracic dysplasia 20 with polydactyly,6<[qy8xd)r e /bh!g"-,.A `-Epileptic encephalopathy, early infantile, 13 I E H  '*Y*b*p+Y++N ;Renal tubulopathy, diabetes mellitus, and cerebellar ataxiagrm&DUj8 H  W,+q p5-Hepatitis, fulminant viral, susceptibility to hw ^,0Z+7$Mental retardation, X-linked 53? cjCataract 15, multiple types ##Galloway-Mowat syndrome 2, X-linked]adU[5 N Z ,,.1#_Birt-Hogg-Dube syndromek< <c%v/v}}BCalvarial hyperostosis\, IX'Lipodystrophy, familial partial, type 16?k %3#+#9#AOIschiocoxopodopatellar syndrome with or without pulmonary arterial hypertension[=<  *2+ "P"a lJoubert syndrome 30 6[,Ma8GN s S(N uPNeurodevelopmental disorder with seizures, microcephaly, and brain abnormalities.zm(4@]_kGH 0 P :+Y,B,-y.t xnLThrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesMLYz<?W[fqFd(fi]jkoQTZ`oG U 8 'l*,,..1w\r Q"Epiphyseal dysplasia, Baumann typef ` ) q"b#$'@|b((Mental retardation, autosomal dominant 1Q6/<KQ[qz!5>1(i<r  E  Z y | qEl!g"(B*p..1blAb ;Wolfram syndrome 2 3ilrd%. ,E n[%Epilepsy, familial adult myoclonic, 7 P rSpermatogenic failure 51 /c]./01qAY")Macular dystrophy, fenestrated Sheen typeJr g:Microcephaly and chorioretinopathy, autosomal recessive, 3 8 3 p"Infantile liver failure syndrome 3tu ^ b !)N24 m#Leukodystrophy, hypomyelinating, 16&4@CD/ X : o  X)0./ c;| u5Developmental delay, hypotonia, and impaired language0S H"/.0`s QCCongenital anomalies of kidney and urinary tract, susceptibility toJLYz  oZLGlobal developmental delay with or without impaired intellectual development/QqY}M]_k ,b1vЌ*Stapes ankylosis with broad thumb and toes} u#&%&'G,(g$Androgen insensitivity syndromeB h (".zCoffin-Siris syndrome 1i/HVY~<BKWfmqy!>Yo:MfIT]_dk<    Z q q]b !""&',_|'0(2Congenital anomalies of kidney and urinary tract 2HJSYn~ Z %o!,,,u n2Mitochondrial complex I deficiency, nuclear type 7 g H 8 '"..0 o+Spondyloepiphyseal dysplasia, Kondo-Fu typef _  +[g ^Lissencephaly 4);C &,.u`qCentronuclear myopathy 1% U [ z <  %]gu"#%#])2),u7voW i$Immunodeficiency 46 So 1#L ]46,xy sex reversal 6 )/!/  m[Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies(QUWfqntj'< 6 | q"#'?--. sChopra-Amiel-Gordon syndrome#z?BEFuf 1 Z j"&&..ANRod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunctionm 9:!,t i{(Muscular dystrophy, limb-girdle, type 2W,l \##A,vLN U .Cataract, autosomal dominant, multiple types 1!NpSplit-Hand/foot malformation 6/9$X ^Hydrolethalus syndrome 2 [&1G  s,T :4Exostoses with anetodermia and brachydactyly, type E M Z1Leukemia, acute lymphocytic, susceptibility to, 1A*o rA#Vitamin d-dependent rickets, type 3d U S ],//|JRetinitis pigmentosa 9 m9qO'Lesch-Nyhan phenotype with normal hgprte1pAcroleukopathy, symmetric O t)Brunet-Wagner neurodevelopmental syndrome&7<u' '+,P0b|hl _6Cognitive impairment with or without cerebellar ataxiaa 'j,bJb OCCerebellar ataxia, mental retardation, and dysequilibrium syndrome2")9 X ~  *p| w8JMental retardation with spastic paraplegia and palmoplantar hyperkeratosis 9D=~Sengers syndrome%! ,gmQ,-g 8 ~ <  '%  #..0ZP tNeuroocular syndromeKPqz!8>ACd{}@Dw 6 kq/:jF "&&&(8*<+V.1u1xfzzVo o]Menke-Hennekam syndrome 2%A[mEFf5<  )}+0P01| x:Intellectual developmental disorder, autosomal dominant 74!7<?Y@ & 8 6 *n*p+.||;&Gastroesophageal refluxc cAdams-Oliver syndrome 48!]_k' ) DGlucocorticoid deficiency 2 8 R'!+,P0 a-Peroxisome biogenesis disorder 3A (Zellweger)q\q  9 "")0Pk A4Charcot-Marie-Tooth disease, dominant intermediate A x 0 2 7 A B u  m#C,,V!6Amyotrophic lateral sclerosis, juvenile, with dementiamb S:Intellectual developmental disorder, autosomal recessive 7*p, XDiamond-Blackfan anemia 7LUm]dkS Z &2(b~tBrachydactyly, type A1qJE\$?$$%&s&'A'{'VL*Hypothyroidism, congenital, nongoitrous, 25SUO~ X m %'f"(Cc{ ^AMitochondrial complex V (ATP synthase) deficiency, nuclear type 2+/4Wq6 9Vg -g 0  8  ]-.0P:H"Toe, fifth, number of phalanges in' x;Intellectual developmental disorder, autosomal recessive 817/3<\f!>$'r H uj"B"&)(*n0Z0eu|> rOocyte maturation defect 8 b,8 qG4Myopathy, congenital proximal, with minicore lesions2' 6gu1N (Oculoectodermal syndrome)Dq!t_gk   O*@12^[. *1Orofacial cleft 11*A8 ^ZHemoglobin H diseaseV.. L"Supranuclear palsy, progressive, 2]en]{~ 2  3 aImmunodeficiency 30 , #  \m V2/|| >Blount disease, adolescent * Choreoacanthocytosis'4   $  \j,"?,c[ ]#Pontocerebellar hypoplasia, type 2D y 8 1 01I<)Cardioauditory syndrome of sanchez cascosmx8$Spastic ataxia 1, autosomal dominant]4C 2 %# ,- wQ%Congenital myopathy 22B, severe fetal>B[qZs[LW[)2 0 7 Z   1 | ? jkt#,*4,-vowPFLipomatosis, multiple symmetric, with or without peripheral neuropathym x #&f,,h Dyskeratosis congenita, X-linked6/U#)r<QTZo+u , /%\P !"&//x ~ gBPulmonary fibrosis and/or bone marrow failure, telomere-related, 4  1bWz~U~VW KpkPeripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease7m !yL'8  # x'moBb+X,,,v,0,m Cockayne syndrome, type BQ6S]$/Ey8Dy6,9`; W ' | 2 :  .GO""',_,-|@Hypokalemic alkalosis, familial, with specific renal tubulopathy rP T B 90ZRbZMetachondromatosis <fWj EW;Venular insufficiency, systemicZ|Nijmegen breakage syndrome0 ~ T[ F<Qb> i  + E u S &)|* d4Mitochondrial complex III deficiency, nuclear type 6g ( ^ g  8 V[. Mental retardation, X-linked 106/<qoq!3"0u kNGEpidermolysis bullosa simplex, generalized, with scarring and hair loss <  k8#Antiphospholipid syndrome, familial<nMDH- bdbbro*Hypothyroidism, congenital, nongoitrous, 55Suw mf*p}6>&Colorblindness, partial, protan series R fBMegalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2 GN& pONeuromuscular disease and ocular or auditory anomalies with or without seizures!f 2 u  > #0N3Charcot-Marie-Tooth disease, demyelinating, type 1Am x 0 4 6 7 g y %]jm#C&f=@Alopecia areata 1  xT  @Smith-Lemli-Opitz syndromex./06>JQYhkz~4<UW[fmq(-6: :PruVW]_gk&'05\)5   3  J SMCq%&2)I).u[u`^7 B.Spermatogenic failure 3 ,/"Ceroid lipofuscinosis, neuronal, 3 "&`j%8  9 %%PDEnhanced S-cone syndrome &D]/w&qe ]/!Congenital prothrombin deficiency  =z1FPancreas, annular Q$Cerebrooculofacioskeletal syndrome 2.6[m8. z^Finger locking, recurrent, with intrauterine growth retardation andproportionate short statured u DAnemia, congenital dyserythropoietic, type IIIb, autosomal recessive, OS[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 N pg  ^ \hij)--dnN`2Colorblindness, deutan -`Miyoshi muscular dystrophy 1  m#p)2uc c `Hyperekplexia 2!58C ')x|Fibrochondrogenesis 12Wqyrszw  g | / qBd!"%0P0a wA )AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF b?Retinal dystrophy, iris coloboma, and comedogenic acne syndrome(,dkN,xiy8 JVMyasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency /U L  < ? B K s  `),.u ]-Obesity, hyperphagia, and developmental delayD1I  ,P0m4Chanarin-Dorfman syndrome ,u<O ~7!gc;|Hypophosphatasia, adult c < +Infundibulopelvic dysgenesis [ 2,Dystrophia myotonica 2q "  tuZk (-/2cvox= :Becker nevus syndrome{ Z y2 s OMMicrophthalmia, syndromic 56,8Ma f-F dHyperprolactinemia fl ,y@! Spastic diplegia, Infantile type ISturge-Weber syndrome I-H/ cu6Neutropenia, severe congenital, 5, autosomal recessiveiQSZo  ')p En(Lethal congenital contracture syndrome 2~[]l > * ii4Hyperphosphatasia with mental retardation syndrome 6-Ui H S qSo"&&b&*\*.`D jqTooth agenesis, selective, 88 nSqualene synthase deficiency%/[fqaoN  J S!&,1;z`[[Q[R[#H d Amyotrophic lateral sclerosis 20 S g i Tremor, hereditary essential, 5 ~ %],,u|[ `/Night blindness, congenital stationary, type 1E*q[EMental retardation, X-linked, with isolated growth hormone deficiency58g3дSteatocystoma multiplex/@ aSpermatogenic failure 10 ,/2@P [ Bile acid malabsorption, primary F' oQXEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2.Z48lqT Gg{  C H  !"*,0=v%6-@phosphogluconolactonase deficiencyV?J#Lactic acidosis, chronic adult forme=? l|'Maleylacetoacetate isomerase deficiency| V0Hypophosphatemic rickets and hyperparathyroidismuKd ] ]0 G3Pseudohypoaldosteronism, type I, autosomal dominantIP[i 7 V' 2. dX$Triosephosphate isomerase deficiency%9: ,49cVgi -2 > ~ '&f,<.$Toes, space between first and second<B W@*Histiocytoma, angiomatoid fibrous, somatic0 u~'Hepatorenocardiac degenerative fibrosisikrzg ^ %o,,24nPw0Factor V and factor VIII, combined deficiency ofd 5 '`HMelanoma, uveal$_ wAuriculocondylar syndrome 4 %D[m8 cuFF +*Palmoplantar keratoderma, nonepidermolytic eH%Autism, susceptibility to, X-linked 6 B HZ lf.Ichthyosis, congenital, autosomal recessive 13 /bM2!Hypercholesterolemia, familial, 1<Z E*z kZMColoboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness[f8JM U qsY!O**2 o 3Mitochondrial complex I deficiency, nuclear type 318G (  "&f.M f!Macular dystrophy, vitelliform, 4 J,w3 \/Microcephaly, seizures, and developmental delayG &*pEbvNeuropathy, hereditary motor and sensory, with deafness, mental retardation,and absent sensory large myelinated fibers&fG iNephrotic syndrome, type 12a\1,b v&Spinocerebellar ataxia 27B, late-onset ~  +)1 v6YIntellectual developmental disorder with ocular anomalies and distinctive facial featuresUF F-vBEpiphyseal dysplasia, multiple, with early-onset diabetes mellitus&S<F? ^ ` q ) 4  s''')Yu[+D b Deafness, autosomal recessive 70m, Q+Neutral lipid storage disease with myopathy!m3 ufk L ^ ~ < ? ]u#V#b| u4Mitochondrial DNA depletion syndrome 20 (MNGIE type) `8 a %i%RX,dlU h-Chromosome 14q32 duplication syndrome, 700-kb .0%:kDysautonomia-Like disorder&f0, lK4Retinal dystrophy with or without macular staphyloma,[e%9k,x h&^Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalitiesF)@CG = u \*p,A$(Asplenia, isolated congenitalf &?@Iris pigment layer, cleavage of 2'Acromesomelic dysplasia, Maroteaux typeaf'7 z  | y\!$"&K'A')+ gSAtaxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus  g x %&f*w,dl+ b 0Combined oxidative phosphorylation deficiency 12%Z'4@t{g 0 H u 8  nM "...|| lw1Proteasome-Associated autoinflammatory syndrome 3Y[Q`ok ^ #)0b+Kl3Anal canal carcinomacloacogenic carcinoma, includedk rLi-Campeau syndrome6<Wq>5]_kw  +~ wP>Cerebroretinal microangiopathy with calcifications and cysts 3 {@ 0 .q :Huntington disease-like 34[w $ /X sRitscher-Schinzel syndrome 446<BY)@Mfi  Z !+%*p*,P0b byU|fɺHypomagnesemia 3, renal< S]gy!6,ef ) U Y [ e M S V ]  %  "'A,,/0u0v1+1@1N1]z W2Ehlers-Danlos syndrome, spondylodysplastic type, 3'<P1f * A"%&K'AZ2Epidermolysis bullosa simplex, Weber-Cockayne type , mOrofaciodigital syndrome XVII6YmqdG r eo%i&(u/ *bMicrotia-anotiaP!g&`(Darier-White disease  )r)t. P[L8Aland island eye disease !uF- _ Spinocerebellar ataxia 36m,C  L u \\0\8Retinopathy, pericentral pigmentary, autosomal recessiveD <}Macrocephaly/autism syndrome#"QWf ` | Fr+Z+.0z])Diabetes insipidus, Neurohypophyseal type <W_{ |z~ K"Ceroid lipofuscinosis, neuronal, 9 x 9  aPHGlucocorticoid deficiency 4 with or without mineralocorticoid deficiency:S-i V RD rSpermatogenic failure 49 /./0 P4Pigmented nodular adrenocortical disease, primary, 176e)+, h . %,.uyc s/Microcephaly, epilepsy, and diabetes syndrome 2 3 ,_ P1#Epilepsy, nocturnal frontal lobe, 4  4%,1b8dn| gM;Intellectual developmental disorder, autosomal recessive 48/W9@  *p w Ra/Surfactant metabolism dysfunction, pulmonary, 2,-.2<> >6su01b[c2~U00f)8Linear skin defects with multiple congenital anomalies 1& )/6m8Dd3 ]_ ?  !(*--2=u` gl;Short-Rib thoracic dysplasia 13 with or without polydactyly0>Yk4<8x)7k$)- s i l / h""(9,3,L..AG FRetinitis pigmentosa 3096 Hemifacial hyperplasiaDG_ d9Ciliary dyskinesia, primary, 24 > Sn+d// (.)Crisponi/cold-induced sweating syndrome 1#%W[qaK. "$)0ayD0X-LINKED intellectual disability, Shrimpton type L>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1[kf z < ]#,u^|Tl(Cerebral sclerosis, diffuse, Scholz typemj% */Hypocalciuric hypercalcemia, familial, type IIIS,d ] f 7 . !0Za W1Nephrolithiasis/osteoporosis, hypophosphatemic, 2ud c % %Beare-Stevenson cutis gyrata syndrome6/0;<f6Sa  52G  t bs]e]"&)-)q.NQ9 [6h yImmunodeficiency 119S`*  / } +d,vnvy~-A wRRECON progeroid syndrome&7?IfQo   !g%&*b} @.Xeroderma pigmentosum, complementation group Am  - x %'Sv= k)Cutis laxa, autosomal recessive, type IICA6y/3<EGW^qEmu,fiA_bw{5< ? <!#&* +p--0 0a12 X [ UCardiomyopathy, dilated, 1X l ?  %u#,1x ]Ciliary dyskinesia, primary, 14> S  %u+e,,//////1xlxz [$dMuscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2#6!D ()[-GH Z u)*pbQX Hemophilia B =.R[X3Hypothyroidism, central, and testicular enlargement5 c3:!Peroxisome biogenesis disorder 3B!, d J  )K0PNMw [ [ R "Radiculoneuropathy, fatal neonatal' # ^f,Dyskeratosis congenita, autosomal dominant 3+m)<QSTZo{t %o !&,,/z pNoonan syndrome 113<\fq_gj]!"0|3Progesterone resistance \ oxBrain small vessel disease 3  T 0  *p~E 0Pierpont syndrome<6!%<?\fm8E'M  Z |/ $&,M../ ~8 lSpermatogenic failure 23 ,Alstrom syndrome8S{ $<Dej/568?JZimu<cl3ek = Z ^  Vc( M n)Extraoral halitosis due to MTO deficiency  dlC0Mental retardation, X-linked 89KND*Keratosis, focal palmoplantar and gingivalI H,$Chromosome 2q35 duplication syndrome ZS. b0Combined oxidative phosphorylation deficiency 134@g o u  ""4} Cf!Epiphyseal dysplasia, multiple, 5 ^ ` )   %'A)V)Yxv8 5 Deafness, autosomal recessive 21 i5Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type(<q Sa5 Z v |  Q=!g'A)Y*407jMuscle cramps, familial B u B\Fumarase deficiency.< ;w~m GNUw = X 8  +y-x6}jDXZ0 CNasopharyngeal carcinoma* `FGRAS-associated autoimmune lymphoproliferative syndrome type IV, somaticSTVu i )07\Achard syndrome[f zK/Myeloproliferative disease, autosomal recessiveC FU#Mitral valve prolapse, myxomatous 2bu   +e///j <-*Spastic paraplegia 14, autosomal recessive C  \Z 4@Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndromej}BK ]_uGN  "*cH rWSpermatogenic failure 46 /./0q*Autoimmune polyendocrine syndrome, type III5DHr<c Z /S L nOvarian dysgenesis 8 ;  (.dlyJ u*Attention deficit-hyperactivity disorder 8j,N, ^'Fanconi anemia, complementation group L'6Yz<[q8F)o   j!g&1&.L@ o Deafness, autosomal recessive 99 0Nystagmus, myoclonic85*Spastic paraplegia 20, autosomal recessive) <%C[   mJ%,,,0S0a0uR @*PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS "| 5XDyserythropoiesis, congenital, with ultrastructurally normal erythroblastheterochromatin_*, 6`؊Cone-Rod dystrophy 2$'[jm*9:,0 u;Intellectual developmental disorder, autosomal recessive 76 @ 8 (*n*p+.0NQlH(Internal carotid arteries, hypoplasia of MhHemolytic anemia, nonspherocytic, due to hexokinase deficiency 9:gi X [P Y4Adenylate kinase deficiency, hemolytic anemia due toV[R / :Deafness, autosomal dominant nonsyndromic sensorineural 13S]#Maxillonasal dysplasia, Binder type | &&lCrouzon syndrome/<GJ ;WXZ[)'. g1Myasthenic syndrome, congenital, 3B, fast-channelZ',L- <  ).AfThoracic dysostosis, isolated7 o/T-cell lymphoma, subcutaneous panniculitis-likeTok  %,,.|/|0c%%Immunoosseous dysplasia, Schimke type<S]adE!6 TQST`o,.  J M _  m z ~  n 5O!)1a ISpinocerebellar ataxia 20RT~ ) ]X)" vUDevelopmental delay with short stature, dysmorphic facial features, and sparse hair 2"q &*n+-g0}k eImmunodeficiency 24` M .0v-vz{}}B= 'j X{&Chromosome 1q21.1 duplication syndrome <0h Z8Bronchiectasis with or without elevated sweat chloride 2>%u/</[G4/Beta-aminoisobutyric acid, urinary excretion of~ a.Peroxisome biogenesis disorder 10A (Zellweger)<Q[\ "),P.Y W)Cardiomyopathy, familial hypertrophic, 12gm RyNeurofibromatosis, type I$<6+0  j n Z j ) * + Q %x&&&&& ,NiudYb H@.Coronary artery disease, autosomal dominant, 1 36z 4 =FjOsteopenia and sparse hairf *BVitamin D-dependent rickets type 2B with normal vitamin D receptor< g ) S ] >?W)xwzo$.Cleft lip/palate-ectodermal dysplasia syndrome E[qt ):)}),_A7Mental retardation, X-linked 23,HDeafness, unilateral& TJoubert syndrome 7Zk, $ = s Z ) 7 < k<-Developmental and epileptic encephalopathy 48}1 @ U 8  '"b|4 p r24Mitochondrial complex IV deficiency, nuclear type 14  h  aHMicrocephaly, short stature, and polymicrogyria with or without seizures8as;[N & 1 MXd 1!,Ectodermal dysplasia 8, Hair/tooth/nail type $  o dImmunodeficiency 17b  b'#ygAEpilepsy, progressive myoclonic, 4, with or without renal failureS]adp8Qg ~ ) %^/dl[ g##Myasthenic syndrome, congenital, 15  7 K ]uv u#Pontocerebellar hypoplasia, type 17&4<F(]k- = "/Ne%Multiple sclerosis, susceptibility to ,  I O e+Premature ovarian failure 8    ((,.Y c%Epilepsy, familial adult myoclonic, 5 89 P%++ g>Frontotemporal dementia and/or amyotrophic lateral sclerosis 3,CHa > L \| m4Amyotrophic lateral sclerosis, susceptibility to, 24C- $  B:] ='-Cholestasis, benign recurrent intrahepatic, 29~ \ SfOtoonychoperoneal syndrome/ fqV= B\+>"Spinocerebellar ataxia, X-linked 2[ kk;Intellectual developmental disorder, autosomal recessive 59. a;Short stature, optic nerve atrophy, and pelger-huet anomaly#<DUW!>T<  "'G),, D _Pancreatic lipase deficiency F J'/8 oSpermatogenic failure 36 ,2@&&Simpson-Golabi-Behmel syndrome, type 1d/bik~)/<Qmo{( ]_fjk-5  S Z k 5 D R q | / ^ ps(  !K#$&&,(,B-0A n!Epidermodysplasia verruciformis 2SNdty>(Fanconi anemia, complementation group D236KQUVh}<mq8EY/[kQSThou  j&1&2&&'3 iLymphedema, hereditary, III "[myz5_ ! ; A Z((Fy2O Acrokeratosis verruciformis  j0b P ip2Hypotonia, infantile, with psychomotor retardation']  ~ ,l4Mental retardation, x-linked syndromic, Raymond type #; xBethlem myopathy 1C, uX o--Developmental and epileptic encephalopathy 6948@CHU 1 H "` i ,Rhizomelic chondrodysplasia punctata, type 5 ,3X 4  &f)0*p-< UElliptocytosis 1V]x h$Charcot-Marie-Tooth disease, type 4Km4g < w]&f+X me9Epileptic encephalopathy, infantile or early childhood, 248@ 1 l.4` n ]:Short-Rib thoracic dysplasia 4 with or without polydactyly  Z (\ e8Familial idiopathic steroid-resistant nephrotic syndromed1#1,z"+3Multicentric osteolysis, nodulosis, and arthropathy:<G[ 0b, k  %A|ZlBK)),b+- JjOrofacial cleft 5 YImmunodeficiency 10 dbt " ~ '~)v? Z46XY sex reversal 57 (-/v7 IDeafness, autosomal dominant 31 jAlazami-Yuan syndrome&W>' &%'G V9Alopecia, neurologic defects, and endocrinopathy syndrome,7<  1 %-0[i x\PNeurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline9  Z ? %u,M f)Familial cold autoinflammatory syndrome 4  ,< CARNOSINEMIAK _Q H 9Deafness, congenital neurosensory, autosomal recessive 3948Impacted teeth, multiple#+=BAlbinism-deafness syndromeSUx!O"-Acromesomelic dysplasia, Hunter-Thompson type h{~"&2I%Lipoid congenital adrenal hyperplasia/H BHlPlatelet disorder, undefinedQd  iq>Microcephaly, short stature, and impaired glucose metabolism 2.Y%[mPY57DT = *p0u Ux QCornelia de Lange syndrome 3SH&?DKUW[fmq!>CM]_jkow  qSl"$%'<'?)+,,./0Pxd  w8| Eosinophil peroxidase deficiencya ])Cardiomyopathy, familial hypertrophic, 17 g., fa>Microcephaly, short stature, and impaired glucose metabolism 1&379fI Z ,c'cLKKLOculorenocerebellar syndrome`p"c _;Intellectual developmental disorder, autosomal recessive 24 &_ hrRetinitis pigmentosa 74D[m (,,/] ]G)Microphthalmia, isolated, with coloboma 6 MFV&*?`Huriez syndromeSy b0 ECandidiasis, familial, 3 L((Hallux varus and preaxial polysyndactyly'G -$Charcot-Marie-Tooth disease, type 4Cm  Z x ; H g  %mur),0+$ pPIntellectual developmental disorder with impaired language and dysmorphic facies16L}~<?Uq w5 Z 9S"&.uy&V} Arts syndromem<'@C  w&fN -Deafness, autosomal dominant 9h \!%w,. dN:Intellectual developmental disorder, autosomal dominant 21y/34<BEKPUW[\fmqz>EFPY}4fi]_k' Gr 8 Z ) :j!g"g%&%*B+I+....0a02 bfu[|^ w `3Acrodysostosis 2 with or without hormone resistance //7{3S | X &K'A)S).$=Myopathy, congenital, with fiber-type disproportion, X-linked[Ll2 ~ 5") hCraniosynostosis 6&<\MS Z  ,,6,:= 4Glaucoma 1, open angle, F/L1' Undritz anomalyYޒ-Thrombophiliavenous thromboembolism, includeds AC,I(-Ankyloglossia with or without tooth anomalies(8+=J BNephronophthisis 4 Z\glo1Very long-chain acyl-CoA dehydrogenase deficiency ,u|}ghm  '7 q#U1x[8' Anodontia of permanent dentition >7Spinal muscular atrophy, distal, autosomal recessive, 2 g n %\me#Cg!9HAmyotrophic lateral sclerosis 15 with or without frontotemporal dementia4a{  w  %\,Atelosteogenesis, type III G[< Z l pp8". )%Aminopterin syndrome sine aminopterin#<U[fqK ,%&2&u? MUShort QT syndrome 2m~/D (0Helicobacter pylori infection, susceptibility toR yA'Ehlers-Danlos syndrome, classic-like, 33ff j .a.z/?cy}[C u Deafness, autosomal dominant 83 %!,I [Diamond-Blackfan anemia 9o  % u0*Agammaglobulinemia 8B, autosomal recessive<BTo " Pg*3*+,BC*W F'Corneal dystrophy, gelatinous drop-likeenk,LMidface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis-nyQ[5 fkw[of  q]&l.0PAG -i+Deafness, progressive, with stapes fixation}!A]hMacrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossMzQdn  H{+CTMICROCEPHALY-CARDIOMYOPATHYl<q4Magnesium, elevated red celleNPelvis-Shoulder dysplasia8Ldr~^ z ZqOX hv0Spondylocostal dysostosis 6, autosomal recessive Z y Xg skCardiomyopathy, dilated, 2Dluw, '<-g1xuwza+Nystagmus 4, congenital, autosomal dominant~  ` \,,1Lymphoma, hodgkin  /x N,2-Methylbutyryl-Coa dehydrogenase deficiencyA t=, vAtelis syndrome 1"KW5']_QZo>  j!!g.0NzFg D?Vitamin K-dependent clotting factors, combined deficiency of, 2d .R: v*Amyotrophic lateral sclerosis 27, juvenileC - Z 0 ?%kt"#Z,0dluc0 mErythrocytosis 7klmp"Orofaciodigital syndrome III<qo8& (9+=G vy'Mosaic variegated aneuploidy syndrome 4 ,N  '`=Hypertrophic osteoarthropathy, primary, autosomal recessive 1zY`.k U | &+*z4 g)Mental retardation, autosomal dominant 34?mF X Sl"`c Gj'Immunodeficiency with hyper IgM, type 5  , m#Osteogenesis imperfecta, type XVIIIQ[Psf U W31Intellectual developmental disorder, X-linked 1114@G  .B:A E#)Nail disorder, nonsyndromic congenital, 8K Pili torti, early-onset  ,_J*Spondyloepimetaphyseal dysplasia, X-linked-G~af [ q 5 z l uy%&K'A',.R"Spermatogenic failure, X-linked, 4 (,. 2 Rigid spine muscular dystrophy 1% [ KT+ u Z =  'gtg)|q -KMyopathy, myofibrillar, 1gl~ ( n) J.Mitochondrial trifunctional protein deficiency$Dtcl- ~ > ^ a 8 ~ B '&f-.|[[GXSyndactyly, type IV S()fDihydropyrimidinuria$M F~X&K./_1||s!= _[[[[S[1,Raindrop hypopigmentationM I7Sick sinus syndrome 1 y %#,-bM(Coach syndrome 1,Zkz7<M6 (4Crs$% & s 9 ^  !} fPRetinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities ,[e ,\Genitopalatocardiac syndrome /k[q]!.U s-Microcephaly 28, primary, autosomal recessiveT (Panic disorder 1U n-Microcephaly 24, primary, autosomal recessive( q, o3Mitochondrial complex I deficiency, nuclear type 21%CI 0 o ~ ,.6 `lMirror movements 27 ,Z oLymphoproliferative syndrome 3  /}B[GHyperekplexia 188 7 G  |n b_*Basal ganglia calcification, idiopathic, 4 W %j, -S`Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosisd8S)i; " kiNeurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination@  8 u Z 6 l.0|Xw o#Pontocerebellar hypoplasia, type 12T[). =,)=,XC rImmunodeficiency 79 %}}/\Anorectal anomalies+Jejunal atresiasFOptic nerve hypoplasiaa 0c 6)9Myopathy, myofibrillar, 9, with early respiratory failure 7 = > ]ku##C#Sandhoff disease%j",Ch H L  e h)*M[_ KNemaline myopathy 6 ~ ]j#V),2RETINITIS PIGMENTOSA, Y-LINKED Y%Chromosome 6q25-q25 deletion syndrome2 ?DUWqzF _bk<2r  ,<,)+,O,-.1cx xd| wF O"Pontocerebellar hypoplasia, type 5 + q(-Epileptic encephalopathy, early infantile, 84 3?E 4CMG "&*c+Y,P,1b J w{*Palmoplantar keratoderma, epidermolytic, 2, e"Pontocerebellar hypoplasia, type 9$)Uy)4@CGHgy  l:"./N0c=`k,Isovaleric acidemiaQTZ $-= [[[ eAuriculocondylar syndrome 3 %[ !A"/uFo Dystonia 12R49|  %,, uCarey-Fineman-Ziter syndrome 2RW[fq,K Z  +V.voxf TgLegius syndrome<E[fq+0r jud-Y iBrachydactyly, type A1, D  q|%^%`%%(` g Familial adenomatous polyposis 3  o * kEs%/R/]3 of[Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature23?BE[q 9 G B j+W,00NM| 8ւ Comedones, familial dyskeratotic j^+Striatonigral degeneration, childhood-onset4C  H z 0\,,/u (pAPachygyria with mental retardation, seizures, and arachnoid cysts f^8 | Exchondrosis of pinna, posteriorV4Precocious puberty, male"8 Y Deafness, autosomal recessive 71@Apnea, obstructive sleep P 6bBlepharocheilodontic syndrome 1<\tw&&0P12iu1u4 oParagangliomas 7 j l  sA#Fibromuscular dysplasia, multifocal  [P)3f ZIJP)}n"Ceroid lipofuscinosis, neuronal, 2"&8  H [K q'Hypoparathyroidism, familial isolated 2 U Y|IUI9Ciliary discoordination due to random ciliary orientation <sMyopia 2, autosomal dominant*b dFanconi renotubular syndrome 3 S  % 6  Marinesco-Sjogren syndrome"/[ Z q ~  g V'A),o pd7Epilepsy, idiopathic generalized, susceptibility to, 16  f*Y+L g$Focal segmental glomerulosclerosis 9a %,1,rtCarney complex, type 1Mc j J Mq !-}k DExostoses, multiple, type I  ) ! N%m'A, v"VNeurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment'@]_chou{G '-<*C**-9-.`Ii>-Dwarfism, proportionate, with hip dislocation h͔4Split-Foot deformity with mandibulofacial dysostosis [V/ g(Mandibulofacial dysostosis with alopeciaHDG[qz<o s!g DbLathosterolosis'!UUW[s~& X S | M#}d<x||x [G%TSpondyloperipheral dysplasia)Sa' _ l * T$J%^&2&'A'()*,(./JkOJalili syndrome$?e 9{!3/ ? rNDeafness, autosomal dominant 79 X X(Mental retardation, autosomal dominant 4KA'*p.9 l}Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay+6>LSUVYhnzmqy [- 9o!g!.uUH c(Dyschromatosis universalis hereditaria 3 ,Ni+Thumb deformityZ% a8Hypogonadotropic hypogonadism 12 with or without anosmia ,67 ""vqAmyloidosis, Finnish typeSdr}f x{|uf@~ Mf*Epidermolysis bullosa, lethal acantholytic!<q& iETWaardenburg syndrome, type 3'/fE{$L k#%%&):*n011u>Pulmonic stenosis and deafnessmj`4Mental retardation, x-linked, syndromic, Turner type5Pa n)Neuropathy, congenital hypomyelinating, 3+ R[mq14CE[- > 1 e g S0u-z9Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome Y  BJM.W7Cardiac conduction defectsudden cardiac death, included-^ q3:Respiratory papillomatosis, juvenile recurrent, congenitalI}2*Hypothyroidism, congenital, nongoitrous, 45O "*p.yz{iEHypertrichosis, congenital anterior cervical, with peripheral sensory  7 8Cardiomyopathy, dilated, 1Hl 2Mental retardation, X-linked, syndromic, Bain type4<B[AY)@f_b  H Z  lj&%..001l_ d^Immunodeficiency 13`> *+d.~>[ Cystinuria  S ; [,#Immunoneurologic disorder, X-linked 'D #qAMycosis fungoides i * c| `Bent bone dysplasia syndrome<[q~B7 e Xb!.HThumb deformity and alopecia<&28]Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndromem(-{>&Cleft palate-lateral synechia syndrome EFCataract, congenital, with mental impairment and dentate gyrus atrophy j_DStiff skin syndrome!,o C#&f0aue8 Oj Deafness, autosomal recessive 44H,Porokeratosis punctata palmaris et plantaris lX U5 Primary lateral sclerosis, adult CO ] j:Spinocerebellar ataxia 43;9| x ]m0x9hDubowitz syndromeF/DET[\q8Ed T{ i J qA""&01 kImmunodeficiency 49 <B[fF @X` U  ?N1{9C \q.Congenital disorder of glycosylation, type IIj@Crw  ^ S ".0  V3Mental retardation, x-linked syndromic, Turner typeO/6<BEW[\fmqz!5EFY @CS[5 Gr 8 B Z |  0a1u| wP p Aneurysm, intracranial berry, 12Z u/yP8 \M Deafness, autosomal recessive 91)SdLithium transport>>jIge responsiveness, atopic3 y / aImmunodeficiency 28 , R u`6Immunodeficiency 101 (varicella zoster virus-specific)BKELOIDS)Bo o3Mitochondrial complex I deficiency, nuclear type 27    .f5*Bietti crystalline corneoretinal dystrophy "m*w@Perrault syndrome 1E Z< Oe$Macular degeneration, age-related, 7`* VXMitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)r   2U ( 8  '\$ ".H /Hypomagnesemia 1, intestinal U e B ' M Nanophthalmos 28 1Desmosterolosis1!= U[fqz:k[G # |(4"#}%*y0 ALYMPHANGIOLEIOMYOMATOSIS1iChromosome 9P deletion syndrome;/6<UW[fq!FP]_k<H Z ),1-..u_L;Intellectual disability-hypotonic facies syndrome, X-linkedE./6LY <U[fqAFCO\  )!g""$*4*6*8*p.u\2Ritscher-Schinzel syndrome 1$/~ <Q[\qM8C ]_djrr y{9ܞ!Thalassemia, beta+, silent allele. xoAlfadhel syndromeU<?BE\qf  '"*oxgGOphthalmoplegia, progressive, with scrotal tongue and mental deficiencyet=Hydrocephalus, tall stature, joint laxity, and kyphoscoliosisbf lHyperlysinemia, type Ia;oq  E ;  [[ o3Mitochondrial complex I deficiency, nuclear type 24g \. t=Hyper-IgE recurrent infection syndrome 4A, autosomal dominantf-S`3> Z c "  %+=,cKz<~}wfHypophosphatasia, childhood S ~ .X[=!Triphalangeal thumb, nonopposable(JP&Pierre Robin syndrome and oligodactyly[$ U)Familial cold autoinflammatory syndrome 2Y  '+c+/0 1RGSevere combined immunodeficiency with sensitivity to ionizing radiationX`* C  N"*Nvvx]{9@ uSpermatogenic failure 75 (,.y? ,@+Hereditary motor and sensory neuropathy VIAh'[D c Z x z 0 2 Q g %jmu!, !,)Amyotrophic lateral sclerosis 2, juvenile4,4C Owy  > y ' Z 1 t \muJ"#,uc|=%Immunoglobulin D level in plasma, low 4P Behr syndrome"j9C 7  >  \:&f,0e s5Visceral neuropathy, familial, 2, autosomal recessive  ,0 o0Combined oxidative phosphorylation deficiency 38<fq g-g 8  ....| wUNeurodevelopmental disorder with hypotonia and speech delay, with or without seizuresM)B[mAFaj}(@MkGI{ r Zjf!g*E*n*p+Y,N,P./N/0S^`f L wOYm i)Mental retardation, autosomal dominant 41 >}  +Ye [Waardenburg syndrome, type 4C{L4[y+Transient bullous dermolysis of the newborn 3' l4Glycogen storage disease of heart, lethal congenital%iWcfgh~28 7 ~ -*c*x.///0n  < lSchizophrenia 19 , j7Autoinflammation, panniculitis, and dermatosis syndromej I  #+.y0}^ ]cRetinitis pigmentosa 4DjQc9,QbhDermochondrocorneal dystrophy ksg} dQ B!Albinism, oculocutaneous, type IBe@4Keratosis follicularis spinulosa decalvans, X-linkedekN auf} _:Rafiq syndrome, 3<?Bq)[f & rq]*1+k 8ZHemochromatosis, type 3,"YrfS`o ^ |0Z0b XU"Epilepsy, progressive myoclonic 1B 89K > %\*CmSchopf-Schulz-Passarge syndrome@ o , ,1zz; Z[Long QT syndrome 12@dl3 _Joubert syndrome 13( s_Immunodeficiency 48* C  .* Ic'Ribose 5-phosphate isomerase deficiency  0cNAAAAAAAAAAAO3H'Palmoplantar keratoderma, epidermolytic * < o Deafness, autosomal recessive 94! a.Peroxisome biogenesis disorder 12A (Zellweger)'| Eu9DwL_k X ^   %Q(*xObRetinitis pigmentosa 1!?m%9,,\ /{,Hyperzincemia with functional zinc depletion I ,_ qCiliary dyskinesia, primary, 44 > S '+dx~U~V X@)Cutis laxa, autosomal recessive, type IIA)Wq! ^f.N Z X |"#).0Pq R-Coronary artery disease, autosomal dominant 2 6mzk E =ZN_ n\;Neurodevelopmental disorder with spasticity and poor growthEL%*<Tq5)8@CAkw  y [ u Z  ]l!g"&)*4..00c EcLeukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism&,!i749CH~  H o e  %\&f,5Peripheral dysostosis"&K' x.Neurodevelopmental disorder plus optic atrophy 1%M V,N, GaBPeriventricular heterotopia with microcephaly, autosomal recessive1   *p~[3Mitochondrial complex IV deficiency, nuclear type 1,]|DU Dgo2g 0 H ; >  % 8   h/vo+TTetramelic deficiencies, ectodermal dysplasia, deformed ears, andother abnormalitiesyC 1 -_,Buschke-Ollendorff syndrome [kI Z )*@"[[/a K5Pseudohyperkalemia, familial, 2, due to red cell leakVi J B6 ^"Lactate dehydrogenase B deficiencyEhlers-danlos syndrome, type I#!P"1;]fb9 8 f"()+daE KFebrile seizures, familial, 6 E*B*C,[ l6/Erythrokeratodermia variabilis et progressiva 4 7*bZ4Cystic fibrosis"rp39>f # 5  1+e,/~U~V~g[[U8 mMethemoglobinemia, Beta type/W jMyopathy, myofibrillar, 7$,[ / Z z ~  ]#C)j))0Nc[~8.Pituitary adenoma, growth hormone-secreting, 16MZff Mo,-v= s=Coffin-Siris syndrome 12X/U %&3<U[fq!>FY5fdw   8 H 0 Z ^ re&&%&2&)*G*,(../101Nu[uuB:E GCone-rod dystrophy 13$'`eS8'Galactokinase deficiency with cataracts ..[S ZMental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance(.6/BPY ()@G u '+bv4|C TOCardiomyopathy, dilated, 1Wl ,1x nA#Parkinsonism-dystonia, infantile, 2R49CK  8 : u P")9.0,0Zbc;|[o[tP ]Leber congenital amaurosis 7 &3e / 7̶Vesicoureteral reflux, X-linkedLNUrofacial syndrome  H~%( d0Arthrogryposis, mental retardation, and seizures4 I Z p"g+,J SK&Paroxysmal nonkinesigenic dyskinesia 2D mLLNeurodevelopmental disorder with severe motor impairment and absent language:/?\]fq4@f G 8 Z &*8,(./1| i*Mental retardation, autosomal recessive 53 )@  S +, q0Combined oxidative phosphorylation deficiency 457q,9@g ". l#Myopathy, mitochondrial, and ataxia+/[mDDf ,9  Z x m  WFontaine progeroid syndrome`.6;&/<?EQW[fq8 (),S .[_ko),-4;r  Z | XN</Gf&&)*8..1F P$Chromosome 16p13.3 deletion syndrome"MI[! 8 Z q"%Q&%'G*?,( qD0Genitourinary and/or/brain malformation syndrome0)/6<W[dqF3PkN  |slMj!(*+^0P1u`wi5Epidermolysis bullosa dystrophica, autosomal dominant  3t ' _V$Chromosome 8q21.11 deletion syndrome,6%7<AB[\q8D e &'A(*0a1~ bx@Intellectual developmental disorder with autism and macrocephaly"b3<PWf  8 )!.Pcc|= I= Q CK syndrome![fF fN 8 Z  ,! iMarfan lipodystrophy syndrome2bEQ6;ISVb 8 k="#h*+1xO`? -FRetinitis pigmentosa 18?3kvTPalmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked   bd [ BhGlucose/galactose malabsorption   '<uUf)Sucrase-isomaltase deficiency, congenital = `D)Familial cold autoinflammatory syndrome 3h3 y  1*,./0i|9B s2Buratti-Harel syndrome/<fq5AA_ q!g"'G,(0bT f3Bardet-Biedl syndrome 10 Sk,( V)Glycogen storage disease XII79:,gior X ~  9Nc[|[s S>Meckel syndrome, type 4k8]_$   s W CMicrocephaly, Amish typeT[()8:[ 8 F",`v l7ZNeurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomaliesC?RUW[fqS@.-8GH |  DXZ*4*n*p./B;Mental retardation, X-linked 96K On'Corneal dystrophy, fuchs endothelial, 2k/@ IERI1-related diseaseGL~&U[qF aK[],3 U Z  q<\&b+,/1wxvw 87Arrhythmogenic right ventricular dysplasia, familial, 5 cm,-|4i <`)Spastic paraplegia 13, autosomal dominant  C v  \[ VRetinitis pigmentosa 41 &D`u9:,A QAlopecia areata 2 Z[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5mNR ~  i,0Z HH%Weill-Marchesani syndrome 2, dominant6GJRju)0;k]cjkru Z z z X ER$&('A)*+.xGUx 4Pulmonary hypertension, primary, autosomal recessive ,, ; < ',0Zm8!Neurocutaneous melanosis, somatic * - D^ V -o$Charcot-Marie-Tooth disease, type 4Dm! 7 x 7 w muX.,! fh/Myasthenic syndrome, congenital, 7, presynapticm x <mu#C,dPgS v+Retinitis pigmentosa 96, autosomal dominantm9vyQ [-Maturity-onset diabetes of the young, type 11(,cK ]Retinitis pigmentosa 38 m, _ _y+Combined malonic and methylmalonic aciduria +/XD Y,Sodium-Potassium-Atpase activity of red cellT 7=$Focal segmental glomerulosclerosis 2]ad6,1N nImmunodeficiency 58*33>  y B 'uR+n+c,/0Zcz<}} kBoEpisodic ataxia, type 2h,4S  I)1!Otopalatodigital syndrome, type I0 <Pa#8<t Z q | %&l&'9'<'?'G'}0P c#Ceroid lipofuscinosis, neuronal, 13 89CGH \,LB(Angioma serpiginosum, autosomal dominant%]'Pyruvate kinase deficiency of red cells9: ~ Z,/dN^NbV NComplement factor H deficiency  %r 1NN ] &Parkinson disease 5, susceptibility to|  o=Immunodeficiency 63 with lymphoproliferation and autoimmunity b  } cvXNeurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies\5F8G +0^5 ^Plasma fibronectin deficiency~ i(0Autoinflammatory syndrome, familial, Behcet-likeQV`   %,,/Zb}U)Omphalocele-Cleft palate syndrome, lethal- ZZMyopathy, myofibrillar, 6$Kgu+- Z x  < w %^ktu),uc~Uzj*3-Hydroxyacyl-Coa dehydrogenase deficiency ugl} - a `"VH mSpermatogenic failure 27 ,/./0 'Eiken syndrome& <Bu#7  E \ g | S l $)X+.u  dh%Parkinson disease 19a, juvenile-onsetR;4| : %]^Xc+x P:Myasthenic syndrome, congenital, with tubular aggregates 1U < ? B K %'u),w& aEShort stature, onychodysplasia, facial dysmorphism, and hypotrichosis0</3<EW\fq3 Tt H s!g""&%&'A)S)+u w I<Burn-Mckeown syndrome Yz/<BR[mE]_ S"1 D)Spastic paraplegia 7, autosomal recessive0 m],CF Hv| 2 [ Z  %J, q?LBlepharochalasis and double lipU)gf Dm"Focal cortical dysplasia of taylor  P  &}3] 7Keratosis pilaris atrophicans 1 &*bz5} b 9T8Ulna and fibula, absence of, with severe limb deficiency6./qytu9 y bf "q#$&'&W&e'*0 oParagangliomas 66 l  0$Spondylometaphyseal dysplasia, axial"$+ Z a / S  %'",/W l4/Erythrokeratodermia variabilis et progressiva 2 * cb +6*Hyperferritinemia with or without cataract  )*0D I5 Deafness, autosomal recessive 35 {C MVShort QT syndrome 3m%/1w|9%Danubian endemic familial nephropathypx - 4Lethal short-limb skeletal dysplasia, al Gazali type  U TXO&b.#jHMotion sicknessM _!Mannose-Binding lectin deficiency- { sBardet-Biedl syndrome 206]=m_13 ^ 4 S!/2)H FM Deafness, autosomal recessive 37  wMKPulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7Q`o1 / S ,+_ Z3Palmoplantar keratoderma, nonepidermolytic, focal 1%3N}I M+1Familial scaphocephaly syndrome, Mcgillivray type J _2Colorectal cancer, hereditary nonpolyposis, type 6<( -ALACRIMA He< xSpermatogenic failure 88 ,.y?> O-Microphthalmia, isolated 28 O~$Osteopetrosis, autosomal recessive 2/j QTo )  'U)*vx gDTenorio syndrome*/>%If8GH  U Z'+cx>"z"Spherocytosis, autosomal recessiveV\ p&Immunodeficiency 64b> /bc#v-zz}E}qAllan-Herndon-Dudley syndrome$U%5'C[/y   o Z m t!"*p,Pt qd8Autoinflammation with episodic fever and lymphadenopathy  k +fWFTreacher Collins syndrome 3 [ !g) omGalloway-Mowat syndrome 8\]adUm%H ',0}.c r3Mitochondrial complex II deficiency, nuclear type 2 0 H  1H n/,Corneal dystrophy, posterior polymorphous, 4&**Takayasu arteritis/9A`Melkersson-Rosenthal syndrome)H4Retinal cone dystrophy 1"$'e, u-Dworschak-Punetha neurodevelopmental syndromeLz [ 'MV&,01'u` p 6Mitochondrial DNA depletion syndrome 16 (hepatic type)tgi \   `#||X c Left ventricular noncompaction 8 clu%,-bPbQwmp!Myosclerosis, autosomal recessive z \um),~U}=Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 , > B  E!Xp11.22 microduplication syndrome,$Short-rib thoracic dysplasia 12:>Y<\fqy rxP}]kw')-   X#$&b(B.0Pf sGlanzmann thrombasthenia 2d ' ._y8Hyper-Igd syndrome"Y  E   t#.yb7}~BX/Y Thymic-Renal-Anal-Lung dysplasia h2&!0 c46XY sex reversal 1 %7>b/ ("./= in%Preimplantation embryonic lethality 1 UP0)Nail disorder, nonsyndromic congenital, 3;> +q u"Osteogenesis imperfecta, type XXIIm U  W,,z|Ut`5Epidermodysplasia verruciformis, susceptibility to, 1 o k2 @#Alveolar soft part sarcoma/VkAngioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, includedU wCraniofacial microsomia 2 [ !g!y)q,,NO\x,Orofaciodigital syndrome IV<[q% Th$.uCamurati-Engelmann disease/m7 ,o Z ) <%,&#*0~[ xjNeurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder&&<[m!YI 6  qj&%,,0 b$Spinal muscular atrophy, Jokela type,9 L x B ]e#dnL34Pruritic urticarial papules and plaques of pregnancy)O8/Thyroid hormone resistance, selective pituitaryD m r DPolycystic kidney disease 4 with or without polycystic liver diseaseSikq6s})   'o!,,wj N:Brachyphalangy, polydactyly, and tibial aplasia/hypoplasiaH/06<U<[mz8E~S_'/01 2 5 g n |{(k "~%T%&& &K'A)A)**6,([ ^Myopathy, distal, 4,f ~ c]u",:+Hepatic adenomas, familial(.NOrofaciodigital syndrome X  $-:Mitochondrial form of axonal Charcot-Marie-Tooth disease-1 C A   ""#]*O*w..| A4Charcot-Marie-Tooth disease, dominant intermediate B x 4 7 %ms u3Glycosylphosphatidylinositol biosynthesis defect 25  r B,P6(Cleft palate, X-linked(8@,X-LINKED intellectual disability, Abidi typeM w5Breast-ovarian cancer, familial, susceptibility to, 5 pScholte syndrome6 \F  X"*p| w+ 74Cervical cancer hur _:Myopia, high, with cataract and vitreoretinal degeneration l8*,}% E )Spondyloarthropathy, susceptibility to, 2Wc/3Thumb agenesis, short stature, and immunodeficiency7&N&1R k.Avascular necrosis of femoral head, primary, 2o,(hDuodenal atresiaK)3Antithrombin, familial hemorrhagic diathesis due todxp4Spinocerebellar ataxia 29, congenital nonprogressiveY+35:Fhi% '()489CDF/[_j  HXy~  & ) * H P c f k u w ?   \ru,ILSlX+"#Y&f&)!*n+V,.02`NMNQbbuu{{|h^`C 8+Facial palsy, familial recurrent peripheral)]%Focal segmental glomerulosclerosis 10 S]a %,1#IU%Craniosynostosis with fibular aplasiaS 'mAcquired angioedema9d{8Femur, unilateral bifid, with monodactylous ectrodactyly%T( va c.)Agammaglobulinemia 7, autosomal recessive S  C P/ m.Multiple mitochondrial dysfunctions syndrome 6m<4@g 0 H u  \l,. g m3Epilepsy, juvenile myoclonic, susceptibility to, 10 IK E%',W dImmunodeficiency 15   P#0z_ m+Amyloidosis, primary localized cutaneous, 3  %,Ni? sImmunodeficiency 84 &=*/Nh Z6LCongenital lipomatous overgrowth, vascular malformations, and epidermal neviYD <` Z k U(=/1bwc Z;Thrombophilia due to histidine-rich glycoprotein deficiency #tP vCardiomyopathy, dilated, 1OO _cl ,-1x hYuan-Harel-Lupski syndrome*?EWmFf]o<X 8 8 x D qL)'.0| o`Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 4g 7 H Z 8 < hubvo| [,Charcot-Marie-Tooth disease, axonal, type 2N x g n  %"#C,ag9Mirror movements 1 and/or agenesis of the corpus callosum7 AK%Larynx, congenital partial atresia of9>G vDeafness, autosomal dominant 86h ,~h db Cole disease;=   j*,Nibbcd b2 Leptin deficiency or dysfunction 6  ",An `Olmsted syndrome 1 [t $O &/IHIChondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome]dp& >O _.Spinocerebellar ataxia, autosomal recessive 12"  1  ,9 Schizophrenia 1BK'Diabetes mellitus, noninsulin-dependentWZ|K XDiamond-Blackfan anemia 6<[]_bdku &2. p Osteogenesis imperfecta, type XX/3fqPM U "&*4.k?Candidiasis, familial chronic mucocutaneous, autosomal dominant2< MPShprintzen omphalocele syndrome 0T S Z zD"-%S h;Seizures, scoliosis, and macrocephaly/microcephaly syndrome+]<:>]k5t &   Z  q)',. j+Ehlers-Danlos syndrome, periodontal type, 2]f Z k x`M X6)Dystonia 17, torsion, autosomal recessiveRH F\(Autoimmune disease, susceptibility to, 1h%5Pancreatic cancer N A g%!Osteogenesis imperfecta, type XVI4mPf U bW"&L qIImmunodeficiency 73B with defective neutrophil chemotaxis and lymphopeniaSTZ`> un"*+d0z{9}.2Bj6Neuropathy, hereditary sensory and autonomic, type III#` 6'- q  Z  B ; \;@"/2[a= ^!Atrial fibrillation, familial, 12 7L!Mismatch repair cancer syndrome 1u i o + E H k%x&//0RTc x>+Spastic paraplegia 72B, autosomal recessive  [ #V,?L+Microcephaly - albinism - digital anomalies B(Polymicrogyria, bilateral frontoparietal5A)CGX = b,/N1jLIncontinentia pigmenti/*8=<  Xt y s F *[SpTrichodentoosseous syndrome  ;* r4Myopathy, epilepsy, and progressive cerebral atrophy[E  S K "(F))j*c.xO@Deafness, X-linked 2}j!ON>Amyotrophic lateral sclerosis and/or frontotemporal dementia 1], a{ > Q ^F OPachygyria, frontotemporal<5 &D *] Epilepsy, idiopathic generalizedIK*a6dDiaphragmatic hernia 2#Krabbe disease mj  1 H j "+X,,a n@Inflammatory bowel disease, immunodeficiency, and encephalopathy f  P b+&=av-}GB'N Mn.Deafness, neurosensory, autosomal recessive 42 `| 8 Left ventricular noncompaction 1]ckmu ,--2wzx3?Incisors, shovel-shaped* [-Lipodystrophy, congenital generalized, type 4/JW,[uqy~k # 9 Z ^  gu#.b Ig&Oligodontia-colorectal cancer syndrome  k* ^ 8;Cataract 9, multiple types 8d eaDesbuquois dysplasia 287WP~f0G S ` q z l p"&K'A,(,0P1|N[L(Renal, genital, and middle ear anomaliesmd!C bz Dystonia 24  *%,/| e~!Branchial arch syndrome, X-linked mq0j S ZdPremature ovarian failure 7 e  (!.P0Thrombophilia, X-linked, due to factor IX defect A%tdHajdu-Cheney syndrome;/kq%<W[q>df]k2  U ) W~$P !&&+)U f@ Analbuminemiak 7  4 E#0Z~;4Methylmalonic aciduria and homocystinuria, Cbld type 4aHlp ` I  J/X f;Intellectual developmental disorder, autosomal recessive 441W ]> X&Chromosome 6pter-p24 deletion syndromeB<QfqADPs 0fi]_dkw-.]  qsRO&)q*4.01A\%Digital clubbing, isolated congenital N|"Histiocytosis, familial lipochromeA %)wY t Cone-rod dystrophy 22 e%*,,bGwwxix|_Macular dystrophy, patterned, 1 eJ,0b<w*xi^ GCleft, median, of upper lip with polyps of facial skin and nasal mucosa <Qd)q=A!Deiodinase, iodothyronine, type IU 77IMINOGLYCINURIA  $ A J-Congenital disorder of glycosylation, type Il1q<Wq5C_ 3 \  J r | :#,dH ;HAneurysm, intracranial berry, 1zP K7Arrhythmogenic right ventricular dysplasia, familial, 9m.*,-<C _$Retinitis pigmentosa 619\j$Spastic ataxia 7, autosomal dominant %C 0(RAPADILINO syndromeKmE.] Nbe&1. g0Combined oxidative phosphorylation deficiency 25<?Wq  G | +../N0xT/@Thyrocerebroretinal syndrome {U8FQ yMHC class II deficiency 2b   ,,0yz} rfArthrogryposis, distal, type 1C E,. Z q*MAT ],Immunodeficiency due to ficolin 3 deficiency  k@ T7Usher syndrome, type IIDm  sBFocal segmental glomerulosclerosis and neurodevelopmental syndrome,/]`cd?W1@fH * P f";*p,P00b{|O ]*Vesicoureteral reflux 3  HJ~01 l#Pontocerebellar hypoplasia, type 11*5M1 )X B  j*p/NlBranchiootorenal syndrome 1)Lnqzxzx^ jsh!g!&C&D&E&F)+V,N,{a k!Sudden cardiac failure, infantile cgm~ ,23:Buerger disease&#0x wRLeukoencephalopathy with vanishing white matter 5, with or without ovarian failure K (  ,,[?t +Achondrogenesis, type IBW- "0P fACardiac conduction disease with or without dilated cardiomyopathyclq@-- SfHamamy syndrome7<?W[qE=Si_ur q%@&)*=*+,O0S U ui.Developmental and epileptic encephalopathy 102@C_K  '"*E,0 H?Marsili syndrome /x em@*MXT,Osteosclerosis with ichthyosis and fractures *X;X$Calcification of joints and arteries A .czGzHzI]tSpherocytosis, type 19V X %'\~,}1Epidermolysis bullosa simplex, Dowling-Meara type 3IO ' , kBMDystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities$D48C   1 %\,./b4:&"Short stature, idiopathic familialCUCraniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1R1z&<GU[fq>F8|'@Sf_k5 r Z y | j"+d,.0P0oqxEpisodic ataxia, type 1n9CFS   k %Z Q*Mitochondrial phosphate carrier deficiencyg- 8/7=P%Aplasia cutis congenita, nonsyndromicwtProlidase deficiency$<[Qo3r E |1A&)+p+,N,| j[h0HMuscular dystrophy, congenital, with infantile cataract and hypogonadism 7Spermatogenic failure 6 /yPseudodiastrophic dysplasia?[P Z z 0c".0aBImmunodeficiency-Centromeric instability-facial anomalies syndrome<[q*> | u*80P>1"Osteopoikilosis and dacryocystitisl)r (O"Ceroid lipofuscinosis, neuronal, 88  1 H %,n*Mental retardation, X-linked, syndromic 11 5PEu &!HTX$Cranial nerves, recurrent paresis of3R&f)H nSpermatogenic failure 33 ,/./0qs wpKPulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9Zu zL6Tryptophanuria with dwarfism  ! `$,Charcot-Marie-Tooth disease, axonal, type 2P L x 0 2 g]m#Cuct V,Chromosome 22q11.2 deletion syndrome, distal3?| w _,%Craniosynostosis and dental anomalies1 /<GT\}=  DIWXZ[S]o&K'G+=,B,,.uxON*Vestibulocochlear dysfunction, progressiveh!x ,-Congenital disorder of glycosylation, type Id(duC[H t :"%,0uH nOvarian dysgenesis 7  7 %  (.D(Neuropathy, hereditary sensory, X-linked 4W \R'Chromosome 16p13.3 duplication syndromeH &)3<?KUW[fqCF]_d'.< | :j!g%&2*4..0a7 ZGlioma susceptibility 2 *dnu n4-Charcot-Marie-Tooth disease, axonal, type 2DD 0 B %]m#C? g#Epilepsy, familial temporal lobe, 7+ c9-Palmoplantar carcinoma, multiple self-healingW  ,N +,,bx }k}~[uKohlschutter-Tonz syndrome) G H *p| ?Immunodeficiency 50 S`Z F&Seizures, benign familial infantile, 3 8 D P 19Pituitary dwarfism IVG 2پMoyamoya disease 10 5Mitochondrial DNA depletion syndrome 4A (Alpers type)2< 8w Ug{ H Z ^ j  ^4+,//(2/z~\`K XRetinitis pigmentosa 46 Dmk4$Multiple myeloma w+yG` j Familial adenomatous polyposis 4 kV k%x,[ L,FEpiphyseal dysplasia, multiple, with severe proximal femoral dysplasia `  ) % S v0Combined oxidative phosphorylation deficiency 57%_i48g 8 H 'l &N,-...dL 8?Hydrocephalus due to congenital stenosis of aqueduct of sylvius 3 jh% ,Cerebellar ataxia, Cayman typeR)4 X  C'Dyschromatosis symmetrica hereditaria 1 e kgAnterior segment dysgenesis 8;E&&,/0X2cUukd-Anemia, dyserythropoietic congenital, type II9   %G*,,RKindler syndrome @!&/(yE T[JVRd2Corneal endothelial dystrophy, autosomal recessivekO,, sW;Megacystis-microcolon-intestinal hypoperistalsis syndrome 2k)  $(*+^,,0*0_1lWMitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy(5 ,CS.g a g 8 ? B %u zvN _*Mental retardation, autosomal recessive 30*p0DThiemann diseasey&K*j:*Mental retardation, X-linked, syndromic 17  @G  &,-`Elejalde diseaseA  pShort stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans/ z "&2'G*.h ^(Mental retardation, autosomal dominant 2 P@&E,. r>Short stature, oligodontia, dysmorphic facies, and motor delay" ?F578f7 z Zuk!0Z`F6Hypogonadism-Cataract syndrome (X (Neutropenia, severe congenital, X-linkedS 0G} k-Epileptic encephalopathy, early infantile, 52 K E Xfq i l5Cerebellar atrophy, developmental delay, and seizures  1 T 9Tooth agenesis, selective, 3 ;%+/+q/8zThoracopelvic dysostosis S dLoeys-Dietz syndrome 5:b <?P}'f ]_uw 8  kE))*4..91B' 8 Poikiloderma with neutropenia)<W[CfkSZr |   +d.c[c b/Night blindness, congenital stationary, type 1F 0*,.C b'Maple syrup urine disease, mild variant**Fk&Muscular atrophy, malignant neurogenic C3#Tricarboxylic acid cycle, defect of p"R _"Complement component 4A deficiencyc I cZ} K1Erythroderma, ichthyosiform, congenital reticular 76 wThrombocytopenia 9Qdv[²/3-hydroxy-3-methylglutaryl-CoA lyase deficiency*8oeg  1 g N |||}<AA[X f^8Hypogonadotropic hypogonadism 22 with or without anosmia6% ",NvvQ)Nail disorder, nonsyndromic congenital, 6^t &G u"Deafness, autosomal dominant 84%\,,> &Neuropathy, inflammatory demyelinating ZJFGrowth retardation, developmental delay, coarse facies, and earlydeath#;L]gk v l#}*8,P,0 O8Arrhythmogenic right ventricular dysplasia, familial, 10m %,--/}B=8 + Glaucoma 3, primary infantile, BGw a7Spinal muscular atrophy, distal, autosomal recessive, 5 R x]e"#C,cMental retardation, X-linked 97  &+,<]xMaxillofacial dysostosis/yD w"C1q deficiency 3  %'j,~) $Chromosome Xq13 duplication syndrome,/\fFai03 8 E  qj),.001x|Q ]5Migraine, with or without aura, susceptibility to, 13#_5nHyperostosis, endosteal TI; 6 Acromelic frontonasal dysostosis:<q!a3 1$G U {Vh' )?*6..+0dj~~[[KxHFactor V deficiency d =M gSpinocerebellar ataxia 41 | \ dVerheij syndrome'Yhk%AUWMaf]| Z y | $&D+.u4Mental retardation, X-linked, syndromic, Hedera typeRUF   )  ').${t*@Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 9 h$ s.Spinocerebellar ataxia, autosomal recessive 309D g  ,c[uA%Duodenal ulcer, hyperpepsinogenemic I  c?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14f- u,u^ jp(Muscular dystrophy, limb-girdle, type 2Y, %]gB %dl~gX;3Vasculopathy, retinal, with cerebral leukodystrophy!]={ [ ^ \ai&#x|q ] ^ u.Developmental and epileptic encephalopathy 104 P  +YN|lH.Lambert syndrome / V Dystonia 16CR~ %\X&#,/0dl4 ggTPeeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads  Njbvnv ]6Complement component 3 deficiency, autosomal recessive Sd  -+f, V#Coenzyme Q10 deficiency, primary, 489Cg 8  uX"*B,/2/A:Hypergonadotropic hypogonadism/E JHUMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 )7 = [  u#%)b|| [0Hypophosphatemic rickets, autosomal recessive, 2j q ) % S%0,0x; a:Porokeratosis 7, multiple types  l>3&Squamous cell carcinoma, head and neck ,J9VHypertriglyceridemia, familialk "@e9Brachydactyly, type e, with atrial septal defect, type II7_'<)N ]O*Hirschsprung disease, susceptibility to, 3 ,,@ vSpermatogenic failure 81 aW E +Migraine without aura, susceptibility to, 4eC#n b`Nephrotic syndrome, type 7]dQV  %\r,dlz" d0Combined oxidative phosphorylation deficiency 19'{L2 [ u 8 '@(C.1x6x||W pCiliary dyskinesia, primary, 43 > S #*+ez r tYGalloway-Mowat syndrome 10]S8   l&,z"( Osteosarcoma m&QFountain syndrome  |&lg `#Coenzyme Q10 deficiency, primary, 6 ]a %^,1,R5-@oxoprolinase deficiency  A#!B kU0Glycine encephalopathy with normal serum glycine# q[f5 8Gy > "b [H;Intellectual developmental disorder, autosomal recessive 13<?BY  l| hKosaki overgrowth syndromeb3PZ ) ( Z %"=+NP T)(Lethal congenital contracture syndrome 3- BٌMorquio syndrome C _ [)pUreter, cancer of4Charcot-Marie-Tooth neuropathy, X-linked dominant, 1&9  7 J Q [ { x 4 7 g n ]"#]&fucvKHyperkalemic periodic paralysisi  /[98!Dysplasia epiphysealis hemimelica ^Cranioectodermal dysplasia 3Z [fr<ZSi")xO ])-Anemia, dyserythropoietic congenital, type IV!/65g Vo X %_ Z*, ,./dN^Nc[|k| jSifrim-Hitz-Weiss syndrome(,6>LS<mqzF~ ]_dkG]  U u l1 O)Spastic paraplegia 31, autosomal dominant C  x  %m,,,E e!Deafness, autosomal recessive 101!,Xr4Keratoderma, palmoplantar, norrbotten Recessive type,j b w=Neurodegeneration and seizures due to copper transport defect 'Ch )2;Gg P  <hP"*Twx`s s'#Pontocerebellar hypoplasia, type 1E')8 *c,P/NJPSprengel deformity  Z y "# olGalloway-Mowat syndrome 7&\]ad?TU[]l 4%\&1#uAA!Doyne honeycomb retinal dystrophy,$Osteopetrosis, autosomal recessive 58AW[u CwQTo Gy u > U X  'U$")**,u[vx~ 0Gracile bone dysplasia68s U  ~(8+SMuscular hypertonia, lethal *2 G 4[ _;Intellectual developmental disorder, autosomal recessive 19 &FAdrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (=6H T ' B!""c$c\u: ,"Dermatitis herpetiformis, familial?<#Adrenocortical carcinoma, pediatricXvNkCluster headache, familial h/0zM !Pulmonary venoocclusive disease 1,vb\xx{ wrߜCoxoauricular syndromem !gB +"Deafness, autosomal recessive 8/10 ,,Arterial tortuosity syndrome6<W[!3E6 [fr{\ 8 Z  %'?[,,/~1 -5Ectodermal dysplasia with natal teeth, Turnpenny type=U[z /e*Odontotrichoungual-Digital-Palmar syndrome/At- &'2'y)069$Hypertrichosis universalis) isICorpus callosum, agenesis of, with facial anomalies and cerebellar ataxia&Ufq>():@,1 we(Nemaline myopathy 5C, autosomal dominant( - u Z 6 ?  %ku"#C#V,.ucvo_ Rodrigues blindness8jxS _%Retinitis pigmentosa 62 c 9,,+ v)WNeurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities16B[F:n(iA] E Z q o qlj!&%'G,(.1V CPorokeratosis 3, multiple types %  l lCNeurodevelopmental disorder with microcephaly, ataxia, and seizures , & S eRetinitis pigmentosa 70 "`m%,7|Prepapillary vascular loopsZB [Epilepsy, hot water, 1  E%[ Z$'Cerebral palsy, spastic quadriplegic, 2  G /d p,Poirier-Bienvenu neurodevelopmental syndrome /? *8|#Spinal muscular atrophy, X-linked 2/6[[L - ^ Z ~ 'e)g; /Usher syndrome, type IE!O!xP(Blepharonasofacial malformation syndrome*) n5Muscular dystrophy, limb-girdle, autosomal dominant 4 ~ Z  %gku#?,,1 ?w1Hereditary motor and sensory neuropathy, type IIC# D Z 6 > x >"""#%#C#]##(C,,/ U [!ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5$&!8M);-G  . = u y\&./N|A Piebald trait VL hvx t1Cholestasis, progressive familial intrahepatic, 8rst \ 4 S %'n,/24xy||(XEar malformationVu)Pituitary hormone deficiency, combined, 25Ng} +#vvyzKYHypomagnesemia 2, renal S T e 7 6}Nevus flammeus of nape of necko,Mental retardation, X-linked 19) Z +I uMacular dystrophy, retinal, 4 ,w]r1Microcephaly with cervical spine fusion anomalies > =*Basal cell carcinoma, susceptibility to, 1 o k6*Mental retardation, autosomal recessive 58@C u  \".Pl7*Opitz-Kaveggia syndromeD/<W[':M T[  zrj$%&"'G)q+,,(0aNu uFHImmunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias ` 01,NvbDPulmonary fibrosis, idiopathic r,. ;w)1|rBazex syndrome f o &%&c}? :-Deafness, autosomal dominant 20!,W ^+Immunoglobulin kappa light chain deficiency ,[ jB#Pontocerebellar hypoplasia, type 2F)CH  *n/N01L1Hyperchlorhidrosis, isolatedi V *./tnParagangliomas 4q  P l 0 Q\!.uzsY o%Fetal akinesia deformation sequence 3 [.[)=.Amyloidosis, hereditary, transthyretin-related6m" ,9Cfh a c j \>X"=&f)0)6*+,/0,}FV+b46, XY sex reversal 11 ,  (".2Fy|! Leber optic atrophy and dystonia<X4g  Z &f2Rombo syndrome o~ w*Spastic paraplegia 18A, autosomal dominant Z I %J,, g"Lissencephaly 6, with microcephaly T:;CGN &.$Renal-hepatic-pancreatic dysplasia 1#Sinqrst_kr)  5  so|~ g.Multiple mitochondrial dysfunctions syndrome 4 @C H o  \.1z~E <[Noonan syndrome 2I3<W[fq n]_bfgjkowur  '?4e'A]&*,-t.w wOKPulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8:wQ. ,.uzz||8,Spondyloepiphyseal dysplasia tarda, X-linked` Z _ 2 z  Z %O"")VFeingold syndrome 1/ DE[fmqEF0E]k'   STs&2(-[-01j<:Epidermolysis bullosa simplex 1B, generalized intermediate    /,Hernia, double inguinal02Burkitt lymphoma u pHNeurodevelopmental disorder with epilepsy, spasticity, and brain atrophyUW Z'"08 3 Deafness, autosomal recessive 17.Arteries, anomalies ofZAS%Cranial nerves, congenital paresis ofy) lARahman syndrome%'.G '&.0a0FI&Choroidal dystrophy, central areolar 1Dw hZimmermann-Laband syndrome 2]>   0O `AJoubert syndrome 16 Zk<,M$ s( Y 9Intellectual developmental disorder, autosomal dominant 5  & 1 H  d+0 H kPremature ovarian failure 13 l%  ( m0Combined oxidative phosphorylation deficiency 35!5 4@ K 1 E V .| nMIntellectual developmental disorder with hypertelorism and distinctive facies<Wfq} &q&&*n*p02L`Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema9 9 M/Sc}j b9"Pontocerebellar hypoplasia, type 736>P[q),8@C 8G = ./N ZdMyopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay ~# b bp.Ichthyosis, congenital, autosomal recessive 10  7OabIz-Deafness with anhidrotic ectodermal dysplasia4:0Cholestasis, progressive familial intrahepatic 19r F \ %xl- O6 C7 deficiency6"y q5Neutropenia, severe congenital, 8, autosomal dominant S ^'"),G h%Basel-Vanagaite-Smirin-Yosef syndrome1/~<Bq8]_ ,G U Z  S!3!&*4~ ^"Epilepsy, progressive myoclonic, 689I 2 Z \*C*b,4Peyronie diseasew/G mRetinitis pigmentosa 81*9,BVpLymphedema, hereditary, II ,gMuckle-Wells syndromeSm=} I  %+c+,0xypL,Hypophosphatemic rickets, autosomal dominant ud ] S 0 _Immunodeficiency 31C*357, `b>  %#,,//0Z1dlz}@}~Hm fuSpinocerebellar ataxia 409C Xx  ], MeHoloprosencephaly 5%<QTU\FY_CPG ,L,0adF%^W Z1Orofaciodigital syndrome XI   8HWLeber congenital amaurosis-3 (LCA3)/Retinitis pigmentosa, juvenile, autosomal recessive<m ' uEIntellectual developmental disorder with autism and dysmorphic facies<q!5 Z j)!^v:Epiphyseal dysplasia of femoral head, myopia, and deafnessm `)N* o*=Hyper-IgE recurrent infection syndrome 3, autosomal recessive[f-<_jX> X#+ddz<~FGProteinuria, low molecular weight, with hypercalciuric nephrocalcinosisS\arydf [  6 V ]cz_X;Ichthyosis, hepatosplenomegaly, and cerebellar degenerationW ]F+Klippel-Feil syndrome 3, autosomal dominant7d vI[*Rhabdomyosarcoma 1W IpHMidface hypoplasia, obesity, developmental delay, and neonatal hypotonia%q ' +.bL/n$Ataxia, deafness, and cardiomyopathyf&Fryns syndromeB/01Ihk~4<Wq8E-su]_.)[ |O#%%&2&&(F*4+0a oTBCongenital disorder of glycosylation with defective fucosylation 2V- :*p,.x1X` WSymphalangism, proximal, 1A } %&s'?'] P"5Right pulmonary artery, anomalous origin of, familial]kwX 9 Bare lymphocyte syndrome, type I ;1> +e. jsD;Multiple congenital anomalies-hypotonia-seizures syndrome 26LQ~  7<DQ[m!,F}1O)348=@CDMW[ruw W_kQ  *8GHKU[{~ & E H u ' Z  > 1 S e  t^A]le/,JR"#}$&&*B*c+y+,B,..../G0a00000111bc<w3xy` b a#Pontocerebellar hypoplasia, type 1B, ,@C[ - . u ".06{Cyclic neutropenia*a nmSpinocerebellar ataxia 4849C \r L<*Spastic paraplegia 28, autosomal recessiveC Z x  %] n7Muscular dystrophy, limb-girdle, autosomal recessive 23 ? %]~##"#%#V,z|[7 @JDeafness, autosomal dominant 24m w 0Mitochondrial trifunctional protein deficiency 2>lug 7 a  %'D<&f,y||=  q;'Mitochondrial DNA depletion syndrome 18y Z@mu#C#vo~U[M D)Cardiomyopathy, familial hypertrophic, 25g E rX!Mismatch repair cancer syndrome 2 G/\ 7Cone-rod dystrophy 3$'<D[%0:,,, tDDevelopmental delay with variable neurologic and brain abnormalities"P[8F}q   0a U. YAtrial septal defect 5 U>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4[ 7 ?  \u##d-u^B hHeimler syndrome 2) Ho Myopia 17*- ~z:Neuropathy, hereditary, with liability to pressure palsies ,E g %&f,v}y| p?-Epileptic encephalopathy, early infantile, 79 HU el*pbf L!]Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma\Frst  $s&f*k -!Peroxisome biogenesis disorder 1Bk 'rs o W).? ADeafness, autosomal dominant 36h%W f1Bardet-Biedl syndrome 8 /n g qEpisodic ataxia, type 94SU )$Nbx^ w3Autoimmune disease, multisystem, infantile-onset, 35b " *,.?0x?+B/bPMesothelioma, malignant=%Triglyceride storage disease, type IIb:Atresia of external auditory canal and conduction deafness"EN xMoyamoya disease 7   ,0w gKAtaxia-oculomotor apraxia 44  4%^nX&f,h ,'8Fallot complex with severe mental and growth retardation]dj fEImmunodeficiency 36`>  %*,/1Nhvx\}C C fY3Glycosylphosphatidylinositol biosynthesis defect 11@ S *4,P118 ^>Schizophrenia 15%, X-Congenital disorder of glycosylation, type IQ"<q8<M(N ^ r  : Peho syndrome %U 8CN | qZ"*4/B`~ k %+||}E~sux{~(Ectopia pupillae&AX!Corneal dystrophy, lattice type I}uOrofaciodigital syndrome VIII< 4h()FlZBethlem myopathy 1A4 ]'^Z Z + ~ ]gudN"#V,11+uc|}Wouy~ *Craniosynostosis 4<a  XZ[+,6,=,B,-.|:'Hematuria, benign familial`1!q 4 -Congenital disorder of glycosylation, type Ic %:"9 aHSeckel syndrome 6 ,<Syndactyly, type III#$).} Q5Neutropenia, severe congenital 3, autosomal recessiveS  / A,@ L Deafness, autosomal recessive 23 GHeart block, congenitalfu"l a8Hypogonadotropic hypogonadism 13 with or without anosmia  , % vv \Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)-m -j u S > 8  '@ """#*p.../X1|| ]Leber congenital amaurosis 15!"'Dem  \k/v:w[ ^Ciliary dyskinesia, primary, 16 >'(+e/// 8*Spastic paraplegia 11, autosomal recessive, "`0 Hv [  4 A  %\ ,,,,uc@ rdSpermatogenic failure 48 y>C HBranchiootic syndrome 3 s&DTownes-Brocks syndrome 1:/0LSYn75P]_dH[`  esST#!g&3&&([()),(.wuAdult syndromeC /  sR 2Ankyloblepharon filiforme adnatum and cleft palate&S 1Grange syndrome o c SC ` Ventricular septal defect 3]_k ?{Pyruvate carboxylase deficiencygy  o 8   :g xBethlem myopathy 1B  gu,/4Wou? =Cardiomyopathy, dilated, 1Kcl Y cNoonan syndrome 8<q]_gjku]. Stickler syndrome, type I'[!jYfkb Z _ c]*- .y 5(Spastic paraplegia 8, autosomal dominant C v [  [  \J,Orofaciodigital syndrome I=]q 4<Dmq6 s<[] T . 9 #}$(8(9(+=,_.u^w@#Xeroderma pigmentosum, variant typeem o , /+^Meckel diverticulum1Pelvic organ prolapse / G_Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bonesG  ) q(#c#hz cB4Anemia, hypochromic microcytic, with iron overload 2o  _,00a}t p8Diencephalic-mesencephalic junction dysplasia syndrome 2 4@V ",P1JlAngioma serpiginosum, X-linked ] F eDiamond-Blackfan anemia 13i ,v>y q{ESeizures, early-onset, with neurodegeneration and brain calcification  :"0e2XOvarian cancer v P8Arrhythmogenic right ventricular dysplasia, familial, 11m. %,-Qr,!Myopathy, distal, infantile-onset 0 ##A#C\ )8Hydrocephalus, endocardial fibroelastosis, and cataracts6d t0Dystonia, early-onset, and/or spastic paraplegia 4C ,/@ +(Portal vein, cavernous transformation ofMM 4%Hyperthyroidism, familial gestationalDq/yz{%5Methylmalonic acidemia and homocysteinemia, Cblx typelp  ` '/X0wE rU!Deafness, autosomal recessive 116 c%j j.Spinocerebellar ataxia, autosomal recessive 24 %\, J$"Leukodystrophy, hypomyelinating, 2 !4/   - P o u ' > g  4")N Wf.Diastasis recti and weakness of the linea alba#?p .i@T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY<  Q u9INeurodevelopmental disorder with neuromuscular and skeletal abnormalities><KU[fm>FuMiAG Z q | %4:"g)*4,dlu`^lO c&Card11 immunodeficiency   P0NNz qPseudo-Torch syndrome 3]6)>Vhoq-8  Rq <Spinocerebellar ataxia 14=C 2]j?'Allergic bronchopulmonary aspergillosis uĘ1Scapuloperoneal syndrome, neurogenic, Kaeser type  x#C#Y,Nvoi d-Congenital disorder of glycosylation, type Iw  .09<8Mental retardation, X-linked, syndromic, Nascimento type)6U<PF@r  S 'G)!).l q^Diets-Jongmans syndrome"/3m fiW]{j"&%-x|7 dDeafness, autosomal dominant 54m (Spinocerebellar ataxia 5=)C/ X  u  ]v\,% qK Myopia 27x*eBrachmann-De lange-like facial changes with microcephaly, metatarsusadductus, and developmental delay0 r|=Frontotemporal dementia and/or amytrophic lateral sclerosis 8a 2 M  )!,[Pancreatic agenesis, congenital Y " ,xKv LFMental retardation, keratoconus, febrile seizures, and sinoatrialblock3< E*p-1z;H:Visceral myopathy, familial, with external ophthalmoplegia  Z  9 +S&f. ^Atrial septal defect 3; bNUsher syndrome, type IK 3 -Amelia, autosomal recessive&cW DNewfoundland rod-cone dystrophy ',?[ 9wAG i+Exercise intolerance, riboflavin-responsive o/Mental retardation syndrome, Mietens-Weber type  "&] `W%Spastic ataxia 5, autosomal recessive48K 7 \m,/c X7Hypogonadotropic hypogonadism 5 with or without anosmia,A7 XODeafness, autosomal dominant 27 pNoonan syndrome 1258n4 ]dQ`G  X"%,NLü Say syndrome [ $&k#Mitochondrial complex II deficiency$DZ',48C[glg 0 H  !D z |/wwW7Pierre Robin sequence with facial and digital anomalies [\qs& k *Spastic paraplegia 78, autosomal recessive ]CH  x X*NNQn /&*Glomerulopathy with fibronectin deposits 2 S]d6 [%],ux[,($Malonyl-CoA decarboxylase deficiency l S 8-/X0[Knobloch syndrome, type 17KQ~UIPl3fk %GN ]&*++,.2uUvw>Polyposis, skin pigmentation, alopecia, and fingernail changes,<ost p T U e I& t _T,Charcot-marie-tooth disease, axonal, type 2O[ 7 x]j#V&f} e-Epileptic encephalopathy, early infantile, 24@IU E j,N BYMacular edema, cystoidJ ,K oCiliary dyskinesia, primary, 41>+d/{s2 ZBrugada syndrome 6/R T"Glycogen storage disease 0, musclef /z?p ki Yao syndrome*IY 36 +s@ Z Deafness, autosomal recessive 77h! oJ2Hypomagnesemia, seizures, and mental retardation 2gyGU T e '/ d0Neurodegeneration with brain iron accumulation 64 H \mZ,/uc|1m n=Deafness, congenital heart defects, and posterior embryotoxons]d i n2Mitochondrial complex I deficiency, nuclear type 5*Z 4C-8g 0 H o 8  '\".0 h+Spondyloepiphyseal dysplasia, Stanescu typek _ q % ,bD i$Chromosome 16p13.2 deletion syndrome6q @q)(+Z0|vG e,Premature ovarian failure 9  (",. iYou-Hoover-Fong syndromem@/ 8  '*-Fu`B_$~/Anemia, sideroblastic, 2, pyridoxine-refractoryo  0a}&l.Succinic semialdehyde dehydrogenase deficiency' IKU 1  %,,lA[[_ n&Intellectual developmental disorder 61<?uj&+Z+0: jKPatent ductus arteriosus 2k q *.Neuronopathy, distal hereditary motor, type VAC @ A b c k ]m#&f,pL Osteogenesis imperfecta, type IVjmP U Z c [; ORetinitis pigmentosa 35j$ v+dNeurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly,<?Wq7@_w q,*4+,/H|lj h*Spastic paraplegia 74, autosomal recessive cC x %]B q+Juvenile arthritisf ,~C? ^Heme oxygenase-1 deficiency]{6Vf +0WbcLc[x?||MPCockayne syndrome, type AV6S]$/yDy6ZQ,9` GW ' | 2 :   .GO"""',_,-X vINeurodevelopmental disorder with poor growth and behavioral abnormalities(?(,@ 8 B  lMbj"*o*p,. . r94Mitochondrial complex IV deficiency, nuclear type 2148D 8 h / L| Fetal iodine deficiency disordermS ;-Epistaxis, hereditary wTNeurodevelopmental disorder with language delay and variable cognitive abnormalitiesWa 8 Z qj 0H mRh-null disease, amorph typeV X^~, G-Spinocerebellar ataxia, autosomal recessive 6 C  `IAnterior segment dysgenesis 1[OC sMahvash disease   Zw= =i x=Leber-like hereditary optic neuropathy, autosomal recessive 2@%dmP Fg4Neutropenia, nonimmune chronic idiopathic, of adultsS_2Collagenoma, familial cutaneous Acf I<n"-[y!Peroxisome biogenesis disorder 2B \q5N )+7¤Rutherfurd syndromekO9o\Myelopathy, htlv-1-associated X>Ђ"Stuttering, familial persistent, 1,b> +Deafness, autosomal dominant 6%!}x h+,Charcot-Marie-Tooth disease, axonal, type 2V, 8 x I \&f*w,0m u%5Neutropenia, severe congenital, 9, autosomal dominant   ,BG >|Nonaka myopathy  m#] _(Alpha-methylacyl-CoA racemase deficiencyD/m9Cp U)K,k[vZ:Cystinosis, late-onset juvenile or adolescent nephropathic ]e % k{-Epileptic encephalopathy, early infantile, 51%1,4@Hg u  'X*B+Y.bh4 Raine syndrome6H~/<[fqyM7)d S | W*8*.z= n]Inflammatory bowel disease 29#LFrank-ter Haar syndrome?%<[q-%?Bi]_bw0 U ']ceW&K+0aNPvHNorrie disease+-8Rj O%t>NHolzgreve syndromeYh pcEctodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic D!8<  &3&&'G,DuO~Formiminotransferase deficiencya g lBlepharocheilodontic syndrome 2<D\t&&L0P12iu1Aw f]+Ectodermal dysplasia/short stature syndrome3  bM je)Mental retardation, autosomal dominant 44E&<BDKW[\>Fu9C]_k< Z | kqSjm*,..0Z00|lg Lh/Fibrosis of extraocular muscles, congenital, 3B  &J *Carabelli anomaly of maxillary molar teeth+E /Ceroid lipofuscinosis, neuronal, 6B (Kufs type)8  0 ?  I"=,z7@Polydactyly, preaxial I&^!Acrofrontofacionasal dysostosis 2/01<Q]fqe'G,(r l.Neuronopathy, distal hereditary motor, type IX  n%]Z""#]Mucopolysaccharidosis type IIIBmkho ( 8 %,[x wZ4Charcot-Marie-Tooth disease, dominant intermediate A  0 2 7 ]j+X,} a!Peroxisome biogenesis disorder 9Bm,f %)K)4rDeafness, X-linked 6 !,mNkOsteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia,hydrocephalus, and hypertension6Q" j>Arthrogryposis, distal, with impaired proprioception and touch# '[i< -X u Z u > \b"*w0a|c `@Joubert syndrome 156>Z,M sx1g2Hypercalcemia, infantile, 1gy f  0x|IK 0 Dystonia 7, torsion R  4 J/x pz,Spondyloepiphyseal dysplasia, Nishimura type g U Y ] |"'. w kA-Epileptic encephalopathy, early infantile, 49*B>(8@CGW 1 'M"*4,P1N^ & \NNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemia2<EQWfqforur  "(F/04 `Preeclampsia/eclampsia 5 %P TRISTICHIASISIT vY Iron overload, susceptibility to   Z00| v.Spinocerebellar ataxia, autosomal recessive 33) X 7 E P ' ? &-| h92Neuropathy, hereditary motor and sensory, type VIB*U?A ,89C[ W Z > x r 0 m*418Short syndrome5EK[q!.5?Wf   =!3#$)T)+.uFP )(Epilepsy, nocturnal frontal lobe, type 1,J GTropical calcific pancreatitis N] \ Hi,Spondyloepiphyseal dysplasia, Kimberley type _ ) * D mSpermatogenic failure 25 ",.xy? j-Developmental and epileptic encephalopathy 47@U 1 H  'l"*Y.0` V%Holocarboxylase synthetase deficiency <Q C 8'"W<= m>Immunodeficiency, developmental delay, and hypohomocysteinemia,9-I_o 0 < ,N./ENJrNephrotic syndrome, type 4Sad k\, nBCongenital disorder of glycosylation with defective fucosylation 1"yQU\-5_kS | &b,P.X c [Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11)!8aj)N . 0 =  y\,/NQ jC%Hyperaldosteronism, familial, type IV6[ %,[ ttAcromesomelic dysplasia 4+/3Eq>t'-< ) z  2y"$&K'A),0\l(Dystonia 2, torsion, autosomal recessive 9%]8 /Cone dystrophy 3$ew `#Coenzyme Q10 deficiency, primary, 2mu{,g&f,c> KLi-Fraumeni syndrome 2 * &/^Q [)Spastic paraplegia 41, autosomal dominant C| @t4Parkinson disease 7, autosomal recessive early-onsetD~  ]|4 e.Spinocerebellar ataxia, autosomal recessive 15 [ ( \0g|TRenal tubular dysgenesis O)- 7! C>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5l+ 7 Z = B u* q#uc~UV B,Gastrointestinal stromal tumor +^s x!Polydactyly-macrocephaly syndrome/h78_w&G &= ?0Neurodegeneration with brain iron accumulation 3 R49CR 4 y  \_/07|4E n!Protoporphyria, erythropoietic, 2c / jn\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4NRHg  hiu,o ['#Nephronophthisis-Like nephropathy 1Z\l6ou^^ K*Spastic paraplegia 27, autosomal recessive  [ u i%Immunodeficiency, common variable, 13T  %M A*,,b4!Bare lymphocyte syndrome, type II 8S O   C!MP ,u8#Anemia, autoimmune hemolyticbf.:Holoprosencephaly with fetal akinesia/hypokinesia sequenceP D qLymphatic malformation 8Zf.Parietal foramina with cleidocranial dysplasia~ !gb4Testicular germ cell tumor 1x lF>Gaze palsy, familial horizontal, with progressive scoliosis, 27C Z  ),/Nv]~Gmn9 tHypoplastic femurs and pelvis " fCatel-Manzke syndrome2%<[qCF]f]s' ? Z )  q"$&'A* 0av9 $Aromatase excess syndrome /Friedreich ataxia 2#Zc  Z + = > %%,, a-Peroxisome biogenesis disorder 4A (Zellweger)k<F  >'"")kC'Scalp defects and postaxial polydactyly@ k0Myasthenic syndrome, congenital, 21, presynapticZ-8 <  1.0ZuvoxZ b&Ectodermal dysplasia 6, Hair/nail type <>1 wDArrhythmogenic cardiomyopathy with variable ectodermal abnormalities#]louw %< &,_,0}bQwzVA IuJoubert syndrome 3 Zq,D(_ s 7 <,.|WEY%Macular dystrophy, concentric annularJA6 p6Oocyte maturation defect 7 ;+Carnitine palmitoyltransferase I deficiency ,uh ~ ^ g  W,-.|| CAl-Gazali-Bakalinova syndrome<q s ^ ` ) (0u ;UMICROHYDRANENCEPHALYT1)CGK   = u t)-*p1 tKing-Denborough syndrome*<qfW] Z z ~ %gu!&%,,.voxO|n wV:Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis y W %,0u8 \ Deafness, autosomal recessive 85 q=Hyper-IgE recurrent infection syndrome 5, autosomal recessive- "  vx?z<~P2Kenny-caffey syndrome, type 28==ToW U Y  ]*+s ]Ciliary dyskinesia, primary, 15> Su+e///1xlzFLong QT syndrome 1 lmy@,5|Arms, malformation of K%8/Osteoarthritis of distal interphalangeal joints 0 r:Neurodegeneration with ataxia and late-onset optic atrophycfh|    j:0Z0 VyStevenson-Carey syndrome fq8M)i_ Z %-0aO#Fibromuscular dysplasia of arteriesz WAS lqImmunodeficiency 53  3  .y L kQ Amelogenesis imperfecta, type IJ(;+V rk=Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1P" f_ Z ),a|}Q ) ABCD syndrome mm y.`4Popliteal pterygium syndrome, Bartsocas-Papas type 1G*26;>V*<G[qz18EF-r#$[<w 2 | O!g!&&&1&2&K&b'A(-()q+,/2u4S/Tremor of intention, ataxia, and lipofuscinosis .Corpus callosum, partial agenesis of, X-linked):G ~G5-3-Methylcrotonyl-CoA carboxylase 1 deficiency C8 g  %/ Y"W<= [%>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 ? %\u#*0Z[7Vas deferens, congenital bilateral aplasia of, X-linked ,2I. ].Brachyolmia type 2 w+#Hatipoglu immunodeficiency syndrome%/Q"00FTo3 E  y  .0i v'SNeurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss6Q [m>@  "*p-g.v/>Ureter, bifid or doubleI^ ]1&Chromosome 2q31.1 duplication syndrome  &1&2,./ 7 ]Retinitis pigmentosa 48` (2Vitamin D hydroxylation-deficient rickets, type 1B"v} ,d ] g U S r]),/ b{*Spastic paraplegia 55, autosomal recessive[C  x 0 7 %*#C,,P >(Dimethylglycine dehydrogenase deficiency ||A= kMyopia 25, autosomal dominant%*R-MHip dysplasia, Beukes type i n *o"O,z S:Intellectual developmental disorder, autosomal recessive 6 8~ *C1u KMyopia 9!Agnathia-Otocephaly complex[qP)2 "-&,17 ]Meier-Gorlin syndrome 56EGW[q   o+!g,N.0u`4Fundus dystrophy, pseudoinflammatory, recessive form!=YnP Constricting bands, congenitalq $5 Z U ])Cardiomyopathy, familial hypertrophic, 20g %1xvj\Arthrogryposis, distal, type 7D[0 4)}. f-Bardet-Biedl syndrome 2))/6g7?"36_lo& :*.1N1{~8 ] Deafness, autosomal recessive 61F ]=Long QT syndrome 6 my @VMegaloblastic anemia 1 ] a [ I , s-Congenital disorder of glycosylation, type 2V$"<Bqur :&%,0;03YHypospadias 1, X-linked3 F js.Nasopharyngeal carcinoma, susceptibility to, 3 s@Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 9gluy ')*4-uwz?zV 7SCramps, familial adolescent bHBlue rubber bleb nevus pQc&    , GALACTORRHEAwZ p2Retinitis pigmentosa 87 with choroidal involvementD9:w)'Hyperphenylalaninemia, bh4-deficient, C489 (  ;[FZ"Hyperlysinuria with hyperammonemia q ` 2 jANevus comedonicus, somaticNC b+Keratoderma, palmoplantar, punctate type IBj jFrontometaphyseal dysplasia 29 %&3<BKPqy>P7^Gjkow Z  "%'A(C)B),(0aWSM E-Epilepsy with grand mal seizures on awakeningIK+3-hydroxyisobutryl-CoA hydrolase deficiency48d H '   .[W du*Mental retardation, autosomal recessive 39T & 8  *p|W K3Melanoma, cutaneous malignant, susceptibility to, 3&2/O WImmunodeficiency 68 -  "*d~ X\>Ciliary dyskinesia, primary, 9, with or without situs inversus*> S '+d+e//1  iEOsteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type1/6~<[fq)[]gh)G U  |&b+0Py1OTLeukemia, acute monocyticK/Polydactyly, postaxial, with progressive myopia!o3Leg, absence deformity of, with congenital cataract E Z _ #oCMultiple congenital anomalies-neurodevelopmental syndrome, X-linkedG/6LQ~3<fmqa)S]j&.QZG q ^ G*e/"&)=,B.a^ a.Peroxisome biogenesis disorder 13A (Zellweger) E[\s ~N \  ]".||k aQAutoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated "  #1s*.v2 TJoEctopia lentis et pupillae;&&*2 rhNeurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities <Wlq - 1 "&)j,w`M^-Gastroschisisabdominal wall defects, included*r nS-Epileptic encephalopathy, early infantile, 660<!(]_sSoUX  'q*B+N| = Q4Leber congenital amaurosis 12B~ q>Cone-rod synaptic disorder syndrome, congenital nonprogressive e vyn Ch646XY gonadal dysgenesis with minifascicular neuropathy / 4 D lxSpermatogenic failure 19 ,/./0l rh,Neuropathy, distal hereditary motor, type VC  7 A %"#]*{gC x[Cardiomyopathy, dilated, 2Jcl 1z$Bleeding disorder, platelet-type, 17Qd   .r.0z| v|>Cortical dysplasia, complex, with other brain malformations 11 ?BUW[qY GN # )*u`LOvarian dysgenesis 2 /7e% ( e4Pigmented nodular adrenocortical disease, primary, 436%+< .u c'+C ['Pancreatic cancer, susceptibility to, 3 E sLuo-Schoch-Yamamoto syndrome#<ByAC <"*p,P,,0 wE scAngioedema, hereditary, 6 Z,z 9\V Lymphatic malformation 1 " /1~X2W qj'Diabetes mellitus, permanent neonatal 4 xK+ t\Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism,67 )CX Z vv 5.Congenital disorder of glycosylation, type IIf]BY {QS   ]uy s59Developmental and epileptic encephalopathy 6B, non-Dravet%<\48@DI Z ")%*Y*a+Y+,cz^ PAicardi-Goutieres syndrome 4q4QT -G o ^ ,P. X+Hypophosphatemic rickets, X-linked dominant#u|d T ] ) S ] X  0 )|o>Ataxia-Pancytopenia syndromeQSTotv x ,C H|Retinitis pigmentosa 26mAdrenal hypoplasia, congenital,7:CN V  %'  ,,ۤ.Telangiectasia, hereditary hemorrhagic, type 15 >rmo+,.9Z\  V h , B E R ;6./w0dmuaxB [&Choroidal dystrophy, central areolar 3,3j8Dyggve-Melchior-Clausen diseaseA/?>rt@` Z y | ) 2 z ~ l o / q2"R""'A'),P,0a0no OsImmunodeficiency 25Xb  ! uB\t(Naegeli-Franceschetti-Jadassohn syndrome PO CSenior-Loken syndrome 4 Zgu/ozсSteinfeld syndromemy8dP[ "#%&e&,wNiemann-Pick disease, type A&,  H  ")|| pQQNeurodevelopmental disorder with structural brain anomalies and dysmorphic facies!<W[MG Z |*p,8..2uRDeafness, autosomal dominant 1 Q %,.s)Hyperphosphatasia with mental retardation0/<BfmF}B @M ['H  S |&*4*p../0u :)Spastic paraplegia 12, autosomal dominant C v  \,,g Y)Ciliary dyskinesia, primary, 11> S u+d//// *%Gillessen-Kaesbach-Nishimura syndrome%q<?[fq-[}[)5 \ / %~9 x(Cutis laxa, autosomal recessive, type ID0bWf  Z u  ^&))*;*bi~ j;Intellectual developmental disorder with cardiac arrhythmia "~ -; `^Retinitis pigmentosa 63nLateral meningocele syndrome7  <?W[fqfK]ko` U Z | 6 z  D dN)B^Z :Noduli cutanei, multiple, with urinary tract abnormalitiesQ~ eG6Hyperammonemia due to carbonic anhydrase VA deficiencyg g 8  '@I ,W ]xFHypermethioninemia with deficiency of S-adenosylhomocysteine hydrolasef u   NMy||}[n tQNeurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis~ u X'l!*B*,P./13NM||`XՈColoboma, ocularL78LG 0c8@Fingerprints, absence of* APapillon-Lefevre syndromeP0p s ) $] q  _ *"%&%*8*p,P.R/0 ^ uStickler syndrome, type VI *.{D? lDeafness, autosomal dominant 71\ g Cerebellofaciodental syndrome(q)A]bG Z )   q=o/N ,n"Hypocalcemia, autosomal dominant 1yPWf T U Y e B I%,,/cQ|I\ (fDHyperparathyroidism, primary, caused by water clear cell hyperplasia CvPulmonary hemosiderosisc-9V+"Spermatogenic failure, X-linked, 5  ,/./0q (NeAutosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)$C<  0 M / [  %C$X)0dl~EI FHypercholanemia, familial F .t/b ZaMultiple synostoses syndrome 3   %'G)},(>Vertical talus, congenitalY.8I ZDGlycogen storage disease XIII #[I j~GEncephalopathy due to defective mitochondrial and peroxisomal fission 2 ,@C H  \l&f+YS 2Retinitis pigmentosa 25 &em9k@Hypoparathyroidism, X-linked Qb^DERMATOLEUKODYSTROPHY 0) oFD pSpermatogenic failure 40 /./0U f!Macular dystrophy, vitelliform, 5 [ J,w3 k Sclerosing cholangitis, neonatalLmrtw 5 '\.24xy* VbMitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).mZ4E Vg  ` 8  ""# &f,P/X0 rKLeukoencephalopathy, progressive, infantile-onset, with or without deafness&SW5@og 0 H  !O# *B,P13|/ Unique green phenomenon x}0Neurodegeneration with brain iron accumulation 9&)4@C   %'",.0701b|``e T-Arrhythmogenic right ventricular dysplasia 12  *x-GRPaget disease of bone 3m ] m S6 vEInflammatory poikiloderma with hair abnormalities and acral keratoses . ,  PtMehmo syndrome)6W!78 CG  "AzFarber lipogranulomatosisYjIO- \.#&+)),h a8Hypogonadotropic hypogonadism 10 with or without anosmia,vvO ^Perrault syndrome 3  / ((.d c0Combined oxidative phosphorylation deficiency 16 gg h||R b&Ectodermal dysplasia 5, Hair/nail type   vJ)Spastic paraplegia 88, autosomal dominant) G  = [ x  \Zj*w,|\ u,Epidermolysis bullosa, junctional 2B, severe N 4Cousin syndrome2!=~&<[fmq8Erz7  2 e g qST!!("#}%&,0a1D `J Atrioventricular septal defect 5 '-g{ tBoudin-Mortier syndromeb!fb7 8'&((#))ux3 Peters-plus syndromeb /;<IY~7<GW[fmq!Fd8Sf ]_jk' G T Z y qs!y"""""%'A)+9+CHydatidiform mole, recurrent, 1,}~2Fragile site 16q22 d8 XAcute promyelocytic leukemia/gQ-Atrial tachyarrhythmia with short pr interval- qSImmunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia  "*b{9, I@Robin sequence, distinctive facial appearance, and brachydactyly7<?QW[fq8] qo$$**4,M,.+.1;#Pontocerebellar hypoplasia, type 2A)4H{ \",P/N,Phlebectasia of lipsMyhre syndromeZ/<BGmq8>E6u0`kH]_jkr'5- | 2 > z q S!g#$$)S,.0aue}A0Darwinian point of pinna+VPCaffey diseasef cAz[[[[([)ڸMucolipidosis III alpha/beta;/q"u00MS`f{ Z x n   % O ,,/01z!HMucopolysaccharidosis IVA2/mtfv+  Z q )  %O !/%/&x|= H f6Bardet-Biedl syndrome 139(2-bAcne inversa, familial s-Usmani-Riazuddin syndrome, autosomal dominantW5 z ~qS$+2xdlC dDeafness, autosomal dominant 56%,L"Borjeson-Forssman-Lehmann syndrome!6PE7 ' 1 Z |  !!*pv JZDrug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included h f+;Intellectual developmental disorder, autosomal recessive 457<KP>F +0P0 o'3Charcot-Marie-Tooth disease, demyelinating, type 1G 7 J x 0 7 n %]m#]+X1dlg tKUDevelopmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities /W!uf  + _Cranioectodermal dysplasia 4!%?'fi  Z&l&'): [? NRetinitis pigmentosa 31c*P _.4Pigmented nodular adrenocortical disease, primary, 3 . ;CKeratolytic winter erythema*J P.Maturity-onset diabetes of the young, type VII(Zu˼9Torticollis, keloids, cryptorchidism, and renal dysplasia n{D ;" )B0*P|0Retinal telangiectasia and hypogammaglobulinemia S5Mowat-Wilson syndromeD/0MN3<z578d @[]_jkG   ?a&&%&&*p+0T0b S m'Joubert syndrome 33 $8 s?Thyroid cancer, nonmedullary, 1U Oo CT'Parkinson disease 8, autosomal dominant|  ]9.d d4Epidermolysis bullosa simplex, autosomal recessive 23  ~HÒ0Radiation sensitivity of natural killer activity  rKohlschutter-Tonz syndrome-likeW ?\]f>89@fV]< GIU  1 8 H Z SlR,J"*B*Y*p+++,,,./bcz{|| wq OAnterior segment dysgenesis 28M c,,g s'Cardiomyopathy, familial restrictive, 6 j<(,= 2*Hemoglobin-Delta locusoP \(Agammaglobulinemia 5, autosomal dominant<qP h,Charcot-Marie-Tooth disease, axonal, type 2Z(mT   L k Z x B g n %]muX"#C,y2 ]IOrofacial cleft 10  P/Combined oxidative phosphorylation deficiency 2q'kg G ^ 8 e "*...<.$Premature chromatid separation trait Xl ]Leber congenital amaurosis 8&3D\ !3,ww) K*Spastic paraplegia 26, autosomal recessive! 4C H 7 Z  \J",dluc4r nBone marrow failure syndrome 4qQZo ".=Dentin dysplasia, type II +4O ['Corneal dystrophy, fuchs endothelial, 3 //U0D-Thyroid hormonogenesis, genetic defect in, 2A5U G{W+Nystagmus 2, congenital, autosomal dominant }% VzHunter-Macdonald syndrome*/BU\!EF6bkou{0 Z ` * qS%)X.0a16AYoung syndrome> 1* K-Congenital disorder of glycosylation, type IF#@[ G  ',P. ENiemann-pick disease, type C2%4- C S > '8C,vU o/1Autoinflammatory disease, familial, Behcet-like-3 45 q2Neurodevelopmental, jaw, eye, and digital syndrome#Y/[z!8 jw<S,#$:{floPopliteal pterygium syndrome .0; "&&&&&):CPolydactyly, postaxial, type A5%):X @Phelan-Mcdermid syndromeLLMbq %3<KPW[m>1 'f]kGX & 8 qS+p.12^_` r.4Mitochondrial complex IV deficiency, nuclear type 11g 7 > % #Cu K)Striatal degeneration, autosomal dominant9DF G [ ]zh"Diabetes insipidus, nephrogenic, 2g '"&N i1Spasticity, childhood-onset, with hyperglycinemiaCgj o p X[E wBirt-Hogg-Dube syndrome 2r,v}~7 WERetinitis pigmentosa 29jE PMCone-Rod dystrophy 11$`e, `>.Hyperglycinemia, lactic acidosis, and seizures 8g -8g 8 o p 8'.X[z8Hypophosphatemic rickets with hypercalciuria, hereditary'u|v},df ] g S r t0])zz|I @$Ehlers-Danlos syndrome, classic-like=Lz-")3fb u#A{} D'1Autoimmune lymphoproliferative syndrome, type IIB*3 "+1B\ eCardiomyopathy, dilated, 1nn clu %,,/1x'Hyperphenylalaninemia, BH4-deficient, A49C (  ';".coV6Muscular dystrophy, congenital, with rapid progression, ^ d\*Mental retardation, autosomal recessive 38/{ 'M< E )!|| w'rNeurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities~m)9_kwH L > 1 "0~GzLipase deficiency, combinedkZ#,z:U ePancreatic agenesis 2 3 " %',N,b=Persistent hyperplastic primary vitreous, autosomal recessive*+-58Rd  t&,.n/ ~:Aortic aneurysm, abdominal QHDeafness, congenital, with inner ear agenesis, microtia, and microdontia[ )q,,l,[ gImmunodeficiency 40{QA ' s#.z||}} iDImmunodeficiency-Centromeric instability-facial anomalies syndrome 3/<q  g | P(0PC m7Nephrotic syndrome, type 16]d,1#m \%Epilepsy, familial adult myoclonic, 3 89<G %`*d,K _/Pregnancy loss, recurrent, susceptibility to, 1, ;Mental retardation, X-linked, syndromic, Martin-Probst type)06S]<[q!5T r lp.Spinocerebellar ataxia, autosomal recessive 25 )D  `| [ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2%!-8)$G . = Z y\&*p fb$2,4-dienoyl-CoA reductase deficiency0Z4 Ggqy  o u  z {+.u`fg`[^ c7Muscular dystrophy, limb-girdle, autosomal recessive 18. ! 49iu   1 Z ^ ? B eu+Z,.^ c"Pulmonary hypertension, primary, 3 ,. %,, qeAnauxetic dysplasia 3$ Mf ) i _ &t&'A+..u[ <Frontoocular syndrome[fq!EFY4_j rX&.51= x!Deafness, autosomal recessive 122 w:Intellectual developmental disorder, autosomal dominant 72#16Yb)?fq n  j&...| RCPotocki-Lupski syndrome1/<?EQ[m15 Z_w 1 8 M Z J")!)'*o/0 / ` Dystonia 21,/N9Usher syndrome, type I &< !k? 0Tremor, hereditary essential, 20ZuZ r"Oculocutaneous albinism, type VIII e F2^$ F4Spondyloenchondrodysplasia with immune dysregulation8q5 ZjS`*+ Z a z %s 1f+d,.vpxLn(Epidermolysis bullosa simplex, Ogna type NF=Wilson diseaseJ]|=49fruwzQVof  G J X   %  %j9)*U*V*W,,dmdn||}* ` [*8Cornea plana 1(I :)North american indian childhood cirrhosis 58 i Deafness, autosomal recessive 97} ](%Spastic ataxia 4, autosomal recessive  ]#p| q;pMental retardation, X-linked 98C/7BU51@ IKU  u | ql*"")*4*C. ..///01bbc9d2U mMRenal hypodysplasia/aplasia 3 LUhn~ *Mental retardation, X-linked, syndromic 1365)[^49@C[8   : Z  ]"*]*pb| w4"Deafness, X-linked 4,Z E`*Spastic paraplegia 24, autosomal recessiveCy ruc TTDiarrhea 3, secretory sodium, congenital, with or without other congenital anomaliesIK<qL  X TCńCataract 20, multiple types%#) .N#Bartter syndrome, type 1, antenatal+goyIKP[Vf H T b e ) V B I ,eTrichohepatoenteric syndrome 1</<QWqrstw]dj{f  |~o{Y!g&&++,.e..1> cPrecocious puberty, central, 2(J/0{o 4:Meckel syndrome, type 2k8$   W(, j )Mental retardation, autosomal dominant 42R J~Bf5AiS48Caf3INU E H P  rj\#f(C*B*C*Y*c++,,X..00`j:=.Hypocalciuric hypercalcemia, familial, type II  f 7 . >ok&Myeloproliferative syndrome, transient_$?Renal tubular acidosis, distal, with progressive nerve deafness sOMuscular dystrophy, congenital hearing loss, and ovarian insufficiency syndromeL- Z g  du~Uf28Graves diseaseU,Cc . yz5' \c vMyopathy, sarcoplasmic body g#"#-vol PPEncephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10V tD:Epidermolysis bullosa simplex 2B, generalized intermediate _ b]#Epilepsy, nocturnal frontal lobe, 5 U%,/+ w.Developmental and epileptic encephalopathy 111(<q>6N  '?,P-../N0y ]%Chromosome 19p13.13 deletion syndromeTa G r*p.lmAOphthalmoplegic neuromuscular disorder with abnormal mitochondriaZ , | M=Obesity, early-onset, with adrenal insufficiency and red hair8CNt}  X ' -+M W1Epilepsy, childhood absence, susceptibility to, 5I o 3Mitochondrial complex I deficiency, nuclear type 32  g > V  (.S1/Orthostatic hypotensive disorder, Streeten type7Hypogonadotropic hypogonadism 3 with or without anosmia,6zmY79~ v}:Intellectual developmental disorder, autosomal dominant 70"/3<G[mFau  VrS&%./N15 xHyperferritinemia ^|( ^aBETA-THALASSEMIA. o&6Fibrosis, neurodegeneration, and cerebral angiomatosis-148|hV-G >']_ Z", .0a,DEAFNESS, Y-LINKED 2= *Asthma, susceptibility to3= :5<"Renal cell carcinoma, nonpapillary f-Developmental and epileptic encephalopathy 27148@  "+Y.0b4 `Coffin-Siris syndrome 3*Wm>)f[ Z .0bkwj.Myelofibrosis with myeloid metaplasia, somatic  ./|?BTranscobalamin I deficiency# I>6Nystagmus, hereditary vertical)0[ 2Dystonia 6, torsion8R 4 %,//y 41ATRANSFERRINEMIApc/ 8)Spastic paraplegia 10, autosomal dominant  v Z  x  \,, o<Ciliary dyskinesia, primary, 40k %'+e,--;-./1|n~V HWildervanck syndrome Ddm  q3Mitochondrial complex I deficiency, nuclear type 35f), S 8 @e .hZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4,!8 ),;P[_jl$-N . = Z  \%#|W#Optic atrophy 3, autosomal dominant m?9^@*Cholestasis, intrahepatic, of pregnancy, 1 ~V ^b  #9@ TYROSINOSIS =a<%Deafness, neural, congenital moderateZ x"Maple syrup urine disease, type Ib  '***.yBFanconi anemia#QUVhm8/[QSThou &1&2&/w e#Pontocerebellar hypoplasia, type 2E'U['8[ G Z | \l&,P0bfAOJacobsen syndrome3/<B<[q78CdqP P[]_Q |q]"*6] qImerslund-Grasbeck syndrome 2  S]ao!,12 x7Neurodevelopmental disorder with hypotonia and seizures E Z 'f*401b|Myopathy, centronuclear, 2"Z'[R Z ? %gktu")0 HMyopia 5 %*,> oFDiamond-Blackfan anemia 18S/e/k2H iSpermatogenic failure 15 ,.uvvy>DP: Levator-Medial rectus synkinesisK8Tyrosinemia, type I&S`iyrwzgo  ^ [ =0n%[[[ uOculopharyngodistal myopathy 4 9K~ ,1voK k7Nephronophthisis 20 LSZk Z%\, p4-Epileptic encephalopathy, early infantile, 77%L%?W[ #MMG u Z S""#?&)0xfy`d Familial Mediterranean fever, AD S]}6  %Pallister-Hall-like syndrome 6n[>&%) \ | &*Dwx-CKabuki syndrome 23U[mqzP} f_j '""$~; kx)Nemaline myopathy 11, autosomal recessive,f ? %]k),-=~tFleck retina, familial benign/ kuEIntellectual developmental disorder with dysmorphic facies and ptosis&7<BQWqEf '*n.0P0ax|C gaOptic atrophy 9 %,w@v XoPseudopseudohypoparathyroidism%7T'A) rJIntellectual developmental disorder with paroxysmal dyskinesia or seizures4G & 1 B H  "<88Blue diaper syndromey  ; (.Stargardt disease 3J,85Indifference to pain, congenital, autosomal recessive e I 9m*M*N*O0, sO+Chromosome 1p36 deletion syndrome, proximal(3[fq]_jklow '*+,-y.0au A$0Neurodegeneration with brain iron accumulation 19"D49CRH  B S ~   %^X"B",,|FDC~(Keratoderma, palmoplantar, with deafnessmWCorpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia!Q\qzLd]k4 !0=z Fanconi-Like syndromeT 36 j Aniridia 3 h . Chromosome 18q deletion syndromeN/6&/<BmE8 )9f]_ckr.53GX B Z Qj,8%*6.1- X^ C6 deficiencycZ# \:Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb(<[\fmqY | .0P0a1u'Chronic granulomatous disease, X-linked"   %h,1}~2[ kr3Hypotonia, ataxia, and delayed development syndromeF6L ,<?EKQ\fq>F ( X u r 'm""*n+Z++..vo| UKEpilepsy, progressive myoclonic 3, with or without intracellular inclusions<@ K H  \Neurofibromatosis, type IIhm<+  * Hk%t%u%v%x%y%z& &f,udy{~GAdrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency %>6H C d#Episodic pain syndrome, familial, 3 0,0i dW1Myopathy due to myoadenylate deaminase deficiency , ~ v s"Short stature, Dauber-Argente typeEK0% [")y<Hydroxykynureninuria'[[w fA3Breasts and/or nipples, aplasia or hypoplasia of, 2 ? }M(CProteasome-associated autoinflammatory syndrome 1 and digenic formsP$Zr#,[chQWk ] ^ m  "#)*+d+,,-.J/001b+uevx?N cH+Bornholm eye disease a*--J$Retinitis pigmentosa 6 Dm/ q t%Chromosome 16q12 duplication syndrome(e%&*,0w@[[? pbNephrotic syndrome, type 211,z"M _)Nevoid hypermelanosis, linear and whorledX  nD(Cardiomyopathy, familial hypertrophic 27#cghuyG  %<,bPzW nh]Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures54@C C H c  %\,vobBrachydactyly, type A2q|S##$$%@%`%g'G'} _NWarburg micro syndrome 30.6@&[8ERh@[ GHN |  ql""",` `xSEncephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency< QSoN g 8 +0!1Anemia, sideroblastic, and spinocerebellar ataxia8Z#)8CR o y| ; c  _W, ,/d/1Nqcy,&D / Deafness, autosomal recessive 15I(Spastic paraplegia 4, autosomal dominant C v 2  [ \)6 `98Ichthyosis, spastic quadriplegia, and mental retardatione3K 7**01Xc#Craniofacial-deafness-hand syndrome <G |%&0PdjRudiger syndrome6-[I " +.Dent disease 1 Sruydf ] g [  % 6 )1Nzq K!=Nephropathy with pretibial epidermolysis bullosa and deafness {r / xaTan-Almurshedi syndromefqb &)* +0a11 Fabry disease#S]67/kczo  L B I%-0,178;0 m].Ehlers-Danlos syndrome, arthrochalasia type, 23 fW U Z } OKleefstra syndrome 1X /6Jbk~/<mF@f]_kwI 8 E H Z q'j*6*8*C*p-y..0P0c w_Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay*D} >'`]!,y,.1xl? eDowling-Degos disease 4 bb bh*Pachyonychia congenita 2It  ,_/avn h nNoonan syndrome 1:/<EQ[mq!]_gjkdr  ""$(F/uY 1/Muscular dystrophy, congenital, megaconial type ,l ~ ?  ]) i;ALeukodystrophy and acquired microcephaly with or without dystonia  4 o l$*p1DPCayler cardiofacial syndrome]dk ,EJgLactase deficiency, congenital'b*,Acanthosis nigricansw s;Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 H~w  $,V qLiberfarb syndrome " Z g9z qTolchin-Le Caignec syndrome' <EU[\q>C: r qj&)1vxOxd} ^x"Nestor-Guillermo progeria syndrome14[6s[k<u,. U = Z  &o)),--.wz?F t.Congenital disorder of glycosylation, type IIwB3<D[qu]dQo Z [ ^ S   %= (8+=+p,.R.q.|0 0;0F12xy|||+ )ACleft palate, cardiac defect, genital anomalies, and ectrodactyly/16<q]dk`!D IG Atrial fibrillation, familial, 1 , d;Short-Rib thoracic dysplasia 11 with or without polydactylyyx7- [ jCiliary dyskinesia, primary, 34 > S  +d// 7 FaDeafness, autosomal dominant 48C /Usher syndrome, type IF !O{> gBrugada syndrome 9y ,/|[ pCiliary dyskinesia, primary, 42 *->'n+d~U x8Amelogenesis imperfecta, type IG (enamel-renal syndrome) Sgy% wS46XX sex reversal 1 /b- (!(./2=i sQEncephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 100B ]?Long QT syndrome 5m@dl8bHOMOCARNOSINOSIS _BImmunodysregulation, polyendocrinopathy, and enteropathy, X-linkedc5Y<QSXoG #  ,/Sb}+}[YDvx Narcolepsy 1    bub84 Amelogenesis imperfecta, type IB r_^Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities( /LU/7q:] 8 ,Mj*p*+/0PbI~)&Teratoma, ovarian/IEctodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant I3Lipodystrophy, partial, acquired, susceptibility to]d3u /%-#*#;#`4 Histidinemia o*[D rCarpal tunnel syndrome 2 A/|Z ,:Deafness, autosomal dominant nonsyndromic sensorineural 11 !%Alport syndrome 3, autosomal dominantS]cdy{m!6nvdm [\ruRK Ze46XY sex reversal 3 >( (!./x\ o+0Visual impairment and progressive phthisis bulbi (6Hernia, anterior diaphragmaticj \*Ectodermal dysplasia-syndactyly syndrome 2 h3N> nI&Drug metabolism, altered, CES1-relatedN I|)Chromosome 15q11-q13 duplication syndrome1 1 H )!*p,16(BSyndesmodysplasic dwarfismk L0Pulmonary atresia with ventricular septal defect]Gk _Myopathy, distal, Tateyama type ~ %g"#c[v| )8.Telangiectasia, hereditary hemorrhagic, type 2' 6>rmo,.Z\  V h , E 6uawsRComplement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy5cfo ! O   %^,v# q%Periventricular nodular heterotopia 9#fNX qoj!g)*3+,NuJu~<6 Vasculitis, lymphocytic, nodularNVolvulus of midgut w\}   rxGitelman syndrome'gn%7P,y  7 T e 7 B I %0ZuC tu Dystonia 32  [ ,/01A Z)Follicular lymphoma, susceptibility to, 1*e| +(Cardiomyopathy, familial hypertrophic, 6cg--zV{,Spondyloepiphyseal dysplasia, Maroteaux type _ ) O bt[Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive,bDHyper-IgE syndrome 2, autosomal recessive, with recurrent infections(X3>Z  " , y  M1+dcKyz<{}}B'B}\ U$Aortic aneurysm, familial thoracic 6 ENj=.:01'P%Fragile X mental retardation syndrome/1fb & Z !,/e w6Cone-rod dystrophy 24!$'?D`e Q,w# s61Oculogastrointestinal neurodevelopmental syndromeUMRo y "/&%,N b-Microcephaly 10, primary, autosomal recessiveT[ { &,P,Porphyria, acute intermittent6,zq  [ I = >.Multiple mitochondrial dysfunctions syndrome 1%,8,-gj 0 H > $ 8 '@/) z"# ,.0rBkGlucocorticoid deficiency 1b R yb7 CThyroid dyshormonogenesis 65S LGoldberg-Shprintzen syndrome+LBGq>P]{N = q0012 T w @=Immunodeficiency 41 with lymphoproliferation and autoimmunity&5VbA  M#*+p+,Nx\z}.&+27Encephalopathy, neonatal severe, due to mecp2 mutations8C-8N 1 ""*p{ Z}3Optic atrophy 7 with or without auditory neuropathy[mgW ?'Diabetes mellitus, permanent neonatal 13 xK+~,Developmental and epileptic encephalopathy 1#6814CM.GK u 'X"*c+,P0c 4 s9IGrowth restriction, hypoplastic kidneys, alopecia, and distinctive facies!6Y%?,a[u<m  ) |Y V""+,P1J(&&Hemifacial hyperplasia with strabismusNH *Chondrodysplasia calcificans metaphysealis -ψSPONDYLOLISTHESIS !)_Arthrogryposis, distal, type 2E [ 4 %+ h,Charcot-Marie-Tooth disease, axonal, type 2Y g n \"#"#%#-#],,Q H9Deafness, congenital neurosensory, autosomal recessive 40> XHeparin cofactor II deficiencyGPigmentary disorder, reticulate, with systemic manifestations, X-linked/<e> +,/0>Amastia, bilateral, with ureteral triplication and dysmorphism~<q^bk  Z y "B S*Mental retardation, autosomal recessive 11 &j i.Spinocerebellar ataxia, autosomal recessive 23  S V <-_ 8I7Generalized epilepsy with febrile seizures plus, type 1I E*CGW'Cryptorchidism, unilateral or bilateralh1P wnGlycine encephalopathy 2  >' `*c*p,N,8 OParkinson disease 139 8 rSpermatogenic failure 52 , i/Dyskinesia, limb and orofacial, infantile-onset9   7  ".4c l5/Erythrokeratodermia variabilis et progressiva 3  *bb w5Pituitary hormone deficiency, combined or isolated, 8 h))-vvvyz~ iTOrofacial cleft 15<qF&&(6.2iu1 qxNizon-Isidor syndrome-/3<BE\!d  8 j"1 t(Parkinsonism-dystonia 3, childhood-onset49V; ) H %',1c;4W'Hyperphenylalaninemia, BH4-deficient, D 9; i:( Migraine, familial hemiplegic, 1e 9  ? M %"=,"p( Oncocytoma.8 stSpermatogenic failure 55 ,/c b*+Congenital heart defects, multiple types, 3 [_dq-- eCoffin-Siris syndrome 9* %BKfq78 u |'h &%&&,..01u mg8Mental retardation, autosomal dominant 55, with seizures9IK 1 P, 'Ullrich congenital muscular dystrophy 1)7'[f- Z =  \tu<N")Nu'lGillespie syndrome;:9 )08Fj|G~ & u Z  QXF&&f*pbbu;|6Peroneal nerve, accessory deep :Stickler syndrome, type II%[!Jf _   %*./Mxwxx[` e7 Z %1xO}K fImmunodeficiency 37 U O   Ck tImmunodeficiency 96  " ,v-.; <Cataract 31, multiple typesk*] b<)Cholestasis, intrahepatic, of pregnancy 3 ~Vb  ~@.Xeroderma pigmentosum, complementation group G89  '0 _GEncephalopathy due to defective mitochondrial and peroxisomal fission 1*3  Ug   S 8 '\mX"'G,(./ VU*Osteopathia striata with cranial sclerosisG<U[fqu :K]_k8  Z | qX>!g%))0aN 4"Cerebral cavernous malformations 2> o 3Mitochondrial complex I deficiency, nuclear type 28m1r g u  ]X".4dDonnai-Barrow syndrome']<fmq,d-o:]  | #*. ./Thrombotic thrombocytopenic purpura, hereditary] 9zQ2g  [ B /5Factor XII deficiency=Y `hUsher syndrome, type IIIB me,, X*@Bone fragility with contractures, arterial rupture, and deafness)3q!JQGTt Z x  | A=P("#$%D)=,0Pa}x S$Charcot-Marie-Tooth disease, type 4J 7 x 7 g w\4BF*Muscular dystrophy, hemizygous Lethal type o(Cardiac-Urogenital syndrome'06>i(]_dkqs)  S(*-O-[-j1x yzB B8 O_ Deafness, autosomal recessive 62} g1Myasthenic syndrome, congenital, 3A, slow-channel- u < J K l \b d%Immunodeficiency, common variable, 1083 "_ +d,-/c#xTyb}EA-CL Keratoconus 13, v4Mitochondrial complex IV deficiency, nuclear type 23Dg  ')4.01NbWo4MD(1Keratosis palmaris et plantaris with clinodactylyqbD"Keratosis palmoplantaris striata I M ,gabbH eSpermatogenic failure 13 (,uvf xMyoclonic epilepsy of Lafora 28 ( P%*C+, l"6Noonan syndrome-like disorder with loose anagen hair 2R<?IUW\fqFa Sf]_gjkuwr 8 Z si<"&)+,-.00T 9R,Amegakaryocytic thrombocytopenia, congenital(QTJGRhabdomyosarcoma, embryonal, 2U kcWc,yE*Chromosome xq27.3-q28 duplication syndromeE0T"1 wD Q$Macular degeneration, age-related, 4` *@ N Deafness, autosomal recessive 55me:!Pulmonary venoocclusive disease 2 ,. %Bv,01b\qMucopolysaccharidosis type IIIC% mko  8 C %E,T oHNeurodevelopmental disorder with or without variable brain abnormalities?%7<BW[q>F)$  Z )  q$,01j|` wI" Pentosuriad; f$Nanophthalmos 48 /M0p ^(Lymphedema, primary, with myelodysplasiaYTu /2 kH{ Mental retardation, X-linked 100I>RSecretory component deficiencyQ#J L2Colorectal cancer, hereditary nonpolyposis, type 2 L xPremature ovarian failure 23el  (,y= u.Developmental and epileptic encephalopathy 103#@I  M P X u  '*C*c*p+Y,P.b {^ 5o Myelinated optic nerve fibers`ט4Microtia with meatal atresia and conductive deafnessD!g"E& urIntellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism4~   +,.u7|Q 'Fanconi anemia, complementation group B"6hq/)]kQ{5G   qV&1,< Y% Deafness, autosomal recessive 1Bmff2Macular dystrophy, retinal, 1, north Carolina type [ JB, s Y*Ciliary dyskinesia, primary, 12> S n+e,//// n-Developmental and epileptic encephalopathy 93d@C  E e ,0N| /Heterotopia, periventricular, X-linked dominant)>ko $uFX bMyoclonus, familial cortical 8 ) 7 ],8c ]7Generalized epilepsy with febrile seizures plus, type 7I E*C qE3Rhizomelic limb shortening with dysmorphic features?W[DMAw C"$&2+1OX v%Congenital myopathy 10B, mild variant*K Z >  ju"#_,1vo~UWo9Macrocephaly/megalencephaly syndrome, autosomal recessive /3Q!K 0 )  /!)xOO+Red cell phospholipid defect with hemolysis X u?Peripheral motor neuropathy, childhood-onset, biotin-responsive l A% #]MHemihyperplasia, isolated  Z k R sJCentral hypoventilation syndrome, congenital, 2, and autonomic dysfunction!+8 Z 'P,..022|q h#Leukodystrophy, hypomyelinating, 12 m@[G P lPq",P0,0` mPEncephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8  1  %0 jsLanguage delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia@w~ bj- o3Mitochondrial complex I deficiency, nuclear type 26m4 -g 1 '@m. o3LSpinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant*[y()[^GH Z 7 > ,%)=..01j|fbuBEpilepsy, photogenic, with spastic diplegia and mental retardation' B4NMental retardation, obesity, mandibular prognathism, and eye and skinanomalies/5E)SI Y-Spherocytosis, type 4 V X\~,_ swWNeurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities><KUW\q!5>FP(M[/L_g52G U Z |']j&%&&)=* *4,P.000H7l Pseudohypoaldosteronism, type II6i/ 2a fRetinal dystrophy and obesity !,%*}wW:,'Bulbar palsy, progressive, of childhoodE?z# u] Neurocardiofaciodigital syndrome"LUm(_dk U ,(+,P-#.9 pQNeurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements48@[  H  l+Y,./` s X?Inflammatory bowel disease 25, early onset, autosomal recessive   #&=aRe.Atypical mycobacteriosis, familial, X-linked 2 , Nw~S gNephronophthisis 19 Zst o KKanzaki disease/  x  Q dn~E_$3Breasts and/or nipples, aplasia or hypoplasia of, 1 5(G-\Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism,and facial dysmorphism#<Wq/68>l a=" (""&K.:..y w `cWIntellectual developmental disorder, autosomal recessive 34, with variant lissencephaly ;KP .2Paragangliomas 2 EI h F ;!uzv&Alport syndrome 2, autosomal recessiveS]d{m!6\r,uR T^ lHelix syndromeSg K T f 7 E *-Deafness, neurosensory, autosomal recessive 5 v0-Neuronopathy, distal hereditary motor, type XCf>y kE#]&f,0gLujan-Fryns syndrome/5bBG[q [fK]_ u j!`+,(12?@Cephalin lipidosis wSRNeurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity]%/4?EQUf=Fdw4>Chw)-NTWz{  u 'G<,:=*4,P,.0bu`vKvww f7Generalized epilepsy with febrile seizures plus, type 9 I E P %*C, n3Mitochondrial complex I deficiency, nuclear type 14 g8g 8 ~'l.0 9X!Cataract, crystalline coralliform~ wFCataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 ad) e #1@ rVSpermatogenic failure 45 /./0>Pruritus, hereditary localized G )(+Aplasia cutis congenita of limbs, recessive!RWGlycogen storage disease VI k ^  4"[SE r}Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis."&A\   0 Z _ e #.!3")V*01{y|4g voNeurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures:6&BDQ[AF@MiGI  Z uqsm &2'G,(.0x{|X O4Seborrhea-Like dermatitis with psoriasiform elementsb}x$Dentatorubral-pallidoluysian atrophy48| %,r Cs.Congenital disorder of glycosylation, type IID  X ~  =|O Z,#Keratosis palmoplantaris striata II;=%b ^*Spastic paraplegia 52, autosomal recessive )<BC[  E '"*p0|b0 ^Glyoxalase II deficiency ^/Combined oxidative phosphorylation deficiency 8cgh)g 1 8  h ..1xc9 iDesanto-Shinawi syndrome'%<Qfmy!>  8 r j+..72Dentinogenesis imperfecta 1 O*1Pyridoxamine 5-prime-phosphate oxidase deficiency8/Vog "" >HMG-CoA synthase-2 deficiency-ud ^ g  %,c[x=|| n2Mitochondrial complex I deficiency, nuclear type 4Zj88g H o  .02Acyl-Coa dehydrogenase, short-chain, deficiency of [f Z ~  '/X),.vo49Hypertrophia musculorum vera# iISeckel syndrome 9 > []_3Gk!!&,xOj.Bartter syndrome, type 5, antenatal, transient gPVf T V )0x ]$DMicrocephaly, postnatal progressive, with seizures and brain atrophyCy =  \l.1 x.Developmental and epileptic encephalopathy 113G H  "*c,11c` .e'Arthrogryposis and ectodermal dysplasiaEm3ht 5%0a k-Epileptic encephalopathy, early infantile, 534g (  '+Y. r;Rajab interstitial lung disease with brain calcifications 25 fu+k Z ^   L",1d c4 Osteogenesis imperfecta, type XV Ps)f Z )/NG ['Corneal dystrophy, Fuchs endothelial, 4k/~ _v6Arthrogryposis, perthes disease, and upward gaze palsy%]_j53 o0abCImmunoerythromyeloid hypoplasia/eU Su+d//0`  C>Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) IKU & - H P lX*C*p+N` cErythrocytosis, familial, 16>zjkl  Q ;0Zf e*Spastic paraplegia 61, autosomal recessive  n ,0w'fHyperopia, high!3c3Autism susceptibility 1 1 H,?'Discrimination, two-point, reduction in q[Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures S  !&+Xe W1Nephrolithiasis/osteoporosis, hypophosphatemic, 1 udf c %X e4Melanoma, cutaneous malignant, susceptibility to, 10 - ]`t1Deafness, conductive, with malformed external earqydC ZDeafness, autosomal dominant 50hBCerebrotendinous xanthomatosis'9Zz - # pX&f*]*z,dnz:[K[[oT Hemophilia A 5=2h 8,Epilepsy, familial focal, with variable foci &|}.}/}3}4 o-Epileptic encephalopathy, early infantile, 75!<BKTF@CfH | e l""1` l Y_,Microcephaly 7, primary, autosomal recessive T@ &*p,Stormorken syndromeBYhQdoZ a ~ \u~)c[&?,Developmental and epileptic encephalopathy 8  H P  *p, G ]Retinitis pigmentosa 20u,@\ Deafness, autosomal recessive 1A* h:Intellectual developmental disorder, autosomal dominant 40,)3BqF@Mf   6  '*4.0|iG%3-@methylglutaconic aciduria, type IV ' S y,P R i*Mental retardation, autosomal recessive 52 *pq;%Hypoparathyroidism, familial isolatedy= U Y b|I|_ODAchromatopsia 2eF,,/ /vywxi:Iw'Cyclic vomiting syndromem ,f  j,<`$Parotidomegaly, hereditary bilateral_ N7Osteosclerosis - ichthyosis - premature ovarian failurer "0zw sMartsolf syndrome 2,C5 ,*p0a0|Z Ht:Deafness, autosomal dominant nonsyndromic sensorineural 49%5Myotubular myopathy with abnormal genital development!/06's f2 ~ g!,.1e U6)Microphthalmia, isolated, with coloboma 5 78dPA nn!Deafness, autosomal recessive 110 @ N Deafness, autosomal recessive 47ms l+Immunodeficiency 11B with atopic dermatitisX*3> " {|E}} _)Wolfram-Like syndrome, autosomal dominantm3u%Z,wN a,7Immunodeficiency, common variable, 8, with autoimmunity-*5YQTb*3>   i ""*+d,/cv}&+Bg s;Parkinson disease 24, autosomal dominant, susceptibility to   ,<Mohr-Tranebjaerg syndrome!em49C c!",`\ +14Cataract, congenital zonular, with sutural opacities _*HPycnodysostosis [ U Z 4 z&o* C,Spastic paralysis, infantile-onset ascending,C > y Z  \]`, Z7Immunodeficiency 83, susceptibility to viral infections { 1%0 j>Encephalopathy, progressive, with amyotrophy and optic atrophy @ Z  \me#C, mOrofaciodigital syndrome XVIIIAB^F{< )&A# L` Cataract 35 s[4Mitochondrial complex IV deficiency, nuclear type 22#wcG 1 ^ g  '$ !O",0r0011 xOrofaciodigital syndrome XX <Q[q)]|&1 '!g'*AH ]Cardiomyopathy, dilated, 1HHcl ,U$p)Progressive familial heart block, type IIm:n tW:Heterotaxy, visceral, 10, autosomal, with male infertility s #+e1 c Bs+Digital arthropathy-brachydactyly, familial A %$& g-Developmental and epileptic encephalopathy 33'@   'l+Y+ 6 kDiamond-Blackfan anemia 17ow w7Basal cell nevus syndrome 2+  o * E V)r)t)w, bH 8(Facial paresis, hereditary congenital, 2m`)s7Polycystic liver disease 1 with or without kidney cysts k. S Z Py!Osteogenesis imperfecta, type XIXmPf Z X "w `"Chromosome 17q12 deletion syndrome7 Ykz~/D[\t P Z ^ oo !!&`).P|6Myopathy, reducing body, X-linked, early-onset, severe[ u Z > ^u,,B Osteogenesis imperfecta, type IIPs7Vc- T U "&b(4(Carpenter syndrome 1DH~G[qy:]_djk01 Z q ) 5 n qXZ[sO%%&s&'m'(#.0a= f&!Deafness, autosomal recessive 102 1pZ,Malignant hyperthermia, susceptibility to, 3 i Y 8 ~ #U,,rX2Renal tubular acidosis, distal, autosomal dominant y, T U % y9 `XCraniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomaliesS% /wc|Optic atrophy 1(@N[u 1@Bartter syndrome, type 4A, neonatal, with sensorineural deafnessSg[ V T V b ) w-/1=R#`&Spinal muscular atrophy, Ryukyuan type L  e; @7Paget disease of bone 4m ] SMActh deficiency, isolated Ct Z -} h%Immunodeficiency, common variable, 12-<Qb>  % 1n+d,cl\ (9,Rhizomelic chondrodysplasia punctata, type 3 "")[+< XQ Deafness, autosomal recessive 45oRobinow-Sorauf syndrome<JMS u 'G'd,(,=0P*=Immune suppression m0Neurodegeneration with brain iron accumulation 749D   o  \"1kl w$Bleeding disorder, platelet-type, 25Q6 ,.e.su _ncNeurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant'48@C GN 1 P Z 6  )9*p+Y./4`lt j9,Charcot-Marie-Tooth disease, axonal, type 2T x ]"#C#]dnU L-Stickler sydrome, type I, nonsyndromic ocularm!./w<VYellow nail syndrome  ,g RPitt-Hopkins syndrome>6%BUz!F@5G  Z%Q`l*p,$,bcul w2?3Incisors, fused mandibularAFPterygium colli, isolatedr |R dR.Telangiectasia, hereditary hemorrhagic, type 5 ^6#Acrofacial dysostosis, Catania type/[](H s?-&#Histiocytosis, progressive mucinous D$Cerebrooculofacioskeletal syndrome 1;TW[8EVhW)C[.GW{ ( q I"%0a00 wLSpastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiar48f Z %X#"#],, xz&Spastic ataxia 10, autosomal recessive( |~ [  %J,,,,|xSjogren-Larsson syndrome'`e[;= ~ */vyw%{}[P FD Craniolenticulosutural dysplasia+<?PW5f Z 4 _ "h.Ů Rett syndrome48H  1 H Z @l),/W kRetinitis pigmentosa 79 em%9,,*ENCHANDSt &:'Mayer-Rokitansky-Kuster-Hauser syndrome 7k 1||k(4Microphthalmia, syndromic 3',/68Ma 0]k y  !")0˒Cerebrocostomandibular syndrome1UVkW[fqn^ 7K]_kT S Z qtW"(2vHvJv\A rRNDevelopmental delay, impaired growth, dysmorphic facies, and axonal neuropathymDC  Z uN&Chromosome 8q22.1 duplication syndromeEF`kB \g&2&K'A),(1jCowden syndrome 1/"G[m!5DUVN`  % Z * &T&)q){2Gbx & P)z q0.Spinocerebellar ataxia, autosomal recessive 28!(bX\+u i8Spinal muscular atrophy with congenital bone fractures 2 ,[Vkw) S > w eo;Thyroid hormone resistance, generalized, autosomal dominant U rj,. c5| fNemaline myopathy 10Z ,[VW ).1f*Bullous dystrophy, hereditary Macular type '= $m%3-methylglutaconic aciduria, type IIIC   wQw +5Cleft palate, cardiac defects, and mental retardation&UqF]_< S$%@&'G*4+,(,P-.01J ZMetaphyseal anadysplasia 2  p 4$Focal segmental glomerulosclerosis 1]a6o  ]on e&Abdominal obesity-metabolic syndrome 36zk  4 E Z,1d Z(Nijmegen breakage syndrome-like disorder @*Brachydactyly, type C# q|>$l$s$$$$$$$$$%%,%3%7%>%@%g%i%s'2(.}N s*LNeurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia%,<?TWqF()[] = s 6 e  lV),PNc*x|1 lqNeurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures,WA,49@CfQ Ggw  0 8  t".bJy2pStriae distensae, familial)8b< Meralgia paraesthetica, familial;Ptosis, hereditary congenital 2 :d{Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathylm%,,-c;Emphysema, hereditary pulmonary1un d:Ciliary dyskinesia, primary, 25s> S un+d//z G `Ventricular septal defect 1]_dj ' Papillorenal syndrome,LUY]k8L`6xf{ Z h*,.131NcxZdBNonarteritic anterior ischemic optic neuropathy, susceptibility toq eF!Moyamoya disease 6 with achalasia"6Q\  ',.:x(Microphthalmia, syndromic 1;/HYmqy78Ldj~ o) Z z!$%0aN&u UJ e"Amelogenesis imperfecta, type IIA5t,:Pterygium, antecubitalak& 1q Migraine, familial hemiplegic, 2ne 9S   M%+,@ f46,xy sex reversal 9>? /U h?-Maturity-onset diabetes of the young, type 143 (, tACongenital disorder of glycosylation, type Iw, autosomal dominant/ U r B  %'&,,1^ +Timothy syndrome75]dhkwy~*, U0c1u Blau syndrome*IV6M Yj,/b j:"Cataract 13 with adult i phenotypen .&Premature aging syndrome, Okamoto type7qy3;O h m eQ:Intellectual developmental disorder, autosomal dominant 23(/&?W[\q!F<  Z  &l.|S tCardiomyopathy, dilated, 2F cl%,1z o-Epileptic encephalopathy, early infantile, 76@   J""*Y,Px u6Neurodevelopmental disorder with dystonia and seizures)4@GH   P*d,.z~l 9D6Neuropathy, hereditary motor and sensory, Okinawa type{ J L ^ x   4 B ]u&fn S.Congenital disorder of glycosylation, type IIgL/S~<?W[fqF(Qno &   i n ^ ,!g"""$&E,N.0 0a0NMvJ| w^ ]-&Hyperaldosteronism, familial, type III g6[f T  1Orofaciodigital syndrome IX< 4h)F0a0:Oslam syndromeo h m $u b4Mitochondrial complex III deficiency, nuclear type 44@Cg   "*p.N u@6Macrothrombocytopenia, isolated, 2, autosomal dominant :,Microcephaly 3, primary, autosomal recessiveT: & &,++AREDYLD/V C-Congenital disorder of glycosylation, type Ig3./6BEy kw<2 " U  r  ':=h"..NMv h&Dehydrated hereditary stomatocytosis 2Vf X  ,NcU sSick sinus syndrome 4 m,1a{;{i> UBrugada syndrome 2m--/ O1Neurodegeneration with brain iron accumulation 2B 4\   \\,.fGObsessive-Compulsive disorder 1/vd/,Thyroid hormonogenesis, genetic defect in, 1 5U cw[Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13#6~jnE)36%G   = \O%" `:IThiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) Z4R  Sg  C H 8 ,0rN{f/Chondrodysplasia punctata 1, X-linked recessivem |&)Bf Dicarboxylicamino aciduria Z ~ a"Osteogenesis imperfecta, type XIII(EQWmP} f U Z o ))*6&Angiolipomatosis, familialu, /'Autoimmune lymphoproliferative syndromeXbcp I # % k } ~ s D;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisJ NU,8Kblu -Xg 7 c  ~ > j n %ghiktu%H)2*wdlvo|8 ` Deafness, autosomal recessive 96mE C%Moyamoya disease 2, susceptibility to .:VACTERL association, X-linkedDi~s)  '".%*w|m b"0Combined oxidative phosphorylation deficiency 14"m8Qo GHg{ 1 8 'W.011abD> Amelogenesis imperfecta, type IVjΜ:Intellectual developmental disorder, autosomal recessive 1g *p,]t-Cerebral amyloid angiopathy, itm2b-related, 19 (. \%Chromosome 6q11-q14 deletion syndrome!&<?W[qFYfT | !,.` ePVasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome@Z6hYlTZ`fo M I ^  %'&f+d+,./0buevx}+ j[} . ELung agenesis, congenital heart defects, and thumb anomalies syndrome k- 8wJ jQNeurodevelopmental disorder with or without anomalies of the brain, eye, or heartZ)/LYbk<?E[]fq8EFMYa(i]kwG P Z z r  'qsj&)'*++,(./N/2Nv_`A,Argininosuccinic acidurias 'I"&,_|~ qS0Combined oxidative phosphorylation deficiency 40mVgo 8  ..8 v&\Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties3QU[\F}(@_. 8 6 N#}*+-i..0w1W TMeckel syndrome, type 5 k8&%  W spFaundes-Banka syndrome*<[qz}7'Mf  !g"(J+,0wV Ki*Auditory neuropathy, autosomal dominant, 1%.!Q,: JDyslexia, susceptibility to, 8) g&"Epilepsy, progressive myoclonic, 88 (  \*d8G jMacular dystrophy, patterned, 3,,+ MqTrichilemmal cyst 1 NNoonan syndrome 3; <fq.]_bgjkwMr | Z/,9./xO+Pyloric atresia/I `[!Pseudohypoaldosteronism, type IIB6i6 2,cIntrinsic factor deficiencya I %c,Nc[|  A& IVIC syndrome"m ~dkQ  Z  h"%&1&2&`'2v!30nHyperalphalipoproteinemia 1/"#Chromosome xp11.3 deletion syndrome&Djm/3k,{>-Dyskeratosis congenita, autosomal dominant, 1)0r< QZ`o{. - O /PsS  \N!Rett syndrome, congenital variant41 '4@   1 8 H Z  '&*p..1bv|4_cM/Hereditary leiomyomatosis and renal cell cancer  K c  m-Epileptic encephalopathy, early infantile, 61U1  8  l0 80Athrombia, essentiald 0PYKNOACHONDROGENESIS*D [4Cardiomyopathy, dilated, 1DDclm,bQ? +Retinitis pigmentosa 17'e9Adenomatous polyposis coli D E O *kBXs @%x)B)v){+<+=x  hMƚ1Lymphoblastic transformation, intrinsic defect in mȶMacdermot-Winter syndrome2~&f G s oKnobloch syndrome 2[k$]s*0\ u8Immunodeficiency 106, susceptibility to viral infections %Nx~NEpilepsy, X-linked, with variable learning disabilities and behavior disorders0X Y,Growth hormone deficiency, isolated, type IB68 |L l46,xx sex reversal 4 6>(!1f2=c tKury-Isidor syndrome+~Wqi<]. Z j%*4*.wD q46,XX sex reversal 5>]#u< qOptic atrophy 12ewzq a%Alternating hemiplegia of childhood 24U  U l%Auditory neuropathy and optic atrophym%,x2DHemolytic anemia due to gamma-glutamylcysteine synthetase deficiency V ~c[[[ xALong-Olsen-Distelmaier syndrome <qa]chlNg U p '+.1zx|| u)Immunodeficiency 97 with autoinflammation) -QX`bpk  " # %C#'1./|00ZNc[}q*0Floating-Harbor syndromeB/y~BEfq'n~fi_r 0  q|o%i&%'2'?'( *,$,(-O2Gv| R7GnLobar holoprosencephalyHwY28gi0@[[ ; Z 7PCj"#f&&),,. ../12|t` Radio-renal syndromehn[.2 > !&S(F wxxxyyz?{{}j}B=2t 4Upper limb defect-eye and ear abnormalities syndrome m7 & & &2'Au MAN1B1-CDG5 3<?BKq)fX  &  rqS]"*1*>*p0 000 Schwartz-Jampel syndromepEO%&*<W[f!EX;,ikARTU,-8w U Z \ q ) k ~ *Wj<x""&) **+=-0P12uIdiopathic isolated micropenis6\ 10Short stature-webbed neck-heart disease syndrome[,Z .Progeria-short stature-pigmented nevi syndrome8/6@[I/7?u8<TXr 8 h N ^  IM9G  &)()b$5 Tracheal agenesis-/J Prolactinoma2,j"7>MZd]  7 h <c 0 5,b---/ /0Y0Z0u@uBw5w9 3Calpain-3-related limb-girdle muscular dystrophy R1[  kuB"##d/uc_ECharcot-Marie-Tooth disease-deafness-intellectual disability syndrome@- > ; Q n*!"""##C#G#]#/0DCongenital insensitivity to pain with severe intellectual disabilityD[0. m@"L"&b*N*Y,P,/ 1 TfLaryngeal neuroendocrine tumorR  ; H -0y5y TL,Hypomyelination-congenital cataract syndrome% &X#Fetal akinesia deformation sequence<[f#)- G Z t}(@Primary dystonia, DYT17 typeR/ .Cleft lip/palate-ectodermal dysplasia syndrome*.E[<w 1 R5 ).Og'Cataract-deafness-hypogonadism syndrome d=Postaxial polydactyly-dental and vertebral anomalies syndrome/xCM$r Z y qd!& &*w@=ɘ-Generalized arterial calcification of infancy@ym}=v6Nhh,2  W % e0cf]"#))*,P,.0x0y0bbQc) k;Mitochondrial membrane protein-associated neurodegeneration:,4-| 7 : J / Z[NK-cell enteropathy  0 HSD10 disease%m089CG  & H =v"",/)0dAtaxia-telangiectasia%#379`w h ^ ZG)zNetherton syndromeV~;13 7& CBlepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome /<5>E t Ataxia-pancytopenia syndromeCRTtw .]a4Brain dopamine-serotonin vesicular transport diseaseR 49K  8 : u %l"(C)9,0Zv',(Acquired idiopathic sideroblastic anemiacQSTdfgiy /*,/d/h/i/oy; 0Hyaluronidase deficiency b-Dravet syndrome./8K   ) - E H P \ b'Hf"B"*B*Y+++++,2/b zVf pMMyasthenia gravis,mU Dh',ZRV. >  I j )*/S0Z0z0u6uvvvoxLKfLKnLKoLKp Leprechaunism/(Aiy3<qJPW[0g)f T Z 52!""",P. .0ahBronchiolitis obliterans*.> ..01b[xz~U~V~gESpastic paraplegia-intellectual disability-nystagmus-obesity syndromeMGl+,b Rabson-Mendenhall syndrome8(y&/5:?W]_f T Z [!"&f(.01uvxLzN FlxAutosomal dominant brachyolmia (BHMucopolysaccharidosis type 7k07 Z  )/S0P Tetrasomy 5p,%<W[fqF')Lc5),2 |qse;"'}(N.0Pu[/Congenital intrauterine infection-like syndromeCH OG+Congenital nephrotic syndrome, Finnish type[]d'GCongenital tracheal stenosis$EMwkL]k(.25   G-11cRwxlx|E%Dihydropteridine reductase deficiency Sturge-Weber syndrome%l bdjLkCHw  Hjn0Y3 ?Phocomelia, Schinzel type[R9[t  | W!E" #$IgG4-related thyroid disease5UhE U Pj&F.0c#yz1}'}E~,&'|nCogan syndromeh*ej{fo  I YOCongenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome !kg 8 ~{?Renin-angiotensin-aldosterone system-blocker-induced angioedema 2 *.O.az {9+~7WARS2-related combined oxidative phosphorylation defect9<qA(,9@CfQ Ggw  & 0 = u 8rt,\"#f0[001y`9Spectrin-associated autosomal recessive cerebellar ataxiaCF HCn7Night blindness-skeletal anomalies-dysmorphism syndromefn!Lf Zqn UM(8X-linked intellectual disability, Stocco Dos Santos type@ H"L*pjALeber congenital amaurosism3u$1})KLHL9-related early-onset distal myopathyv x 0 n B"#-#G#g(Posterior polymorphous corneal dystrophy5enx&,,,/c}zT Z 'Paramyotonia congenita of Von Eulenburg'  )4+".!.2\2c2d2e2g2hzdCryoglobulinemic vasculitisS]I,Yp I |&f&g/q jMeconium aspiration syndrome,2;&H(,.001bcMxly|t|Ring chromosome Y syndrome!/03=>  !(((1P Granulomatosis with polyangiitisHGS]~n6`iY +-69A I M H^n&f+-0Z1i1}8 b j4 Folinic acid-responsive seizures&!4C28KUX 8 H *C*Y*]00N XS(Benign adult familial myoclonic epilepsy8 1 JCTenosynovial giant cell tumortY`hjk BK&S&{ -Autosomal recessive spondylocostal dysostosis&/E QWf- Z ^(B**w_Acquired ichthyosisS- h i w* bxM,Syndromic X-linked intellectual disability 76<, & R" N 2Microcephaly-lymphedema-chorioretinopathy syndromeC%3TW!,8<FKfj00;_uU i H3% &(F00$2 jTJ Congenital factor XII deficiency ds=11\ V x2Hypomyelination neuropathy-arthrogryposis syndrome#`2  Branchioskeletogenital syndrome7*6G/35<BG\_q(S &  w |  _P!D&&V&Z&(;))+@0PUSagliker syndrome  ])POdontomicronychial dysplasia = a-Autosomal dominant spastic paraplegia type 38C v @ A b c l#C#G#]LlBrachydactyly type E f&'A'\)W JGlycogen storage disease due to lactate dehydrogenase M-subunit deficiency  ^ < q #U,\1Ncccyz gD Ataxia-oculomotor apraxia type 1&f) Hypoglossia-hypodactyly syndromeD[ wsy"&0&U&(7)a!Acetazolamide-responsive myotonia UZ5 B Υ0Isolated follicle stimulating hormone deficiency,7l  "*'122@uB Isolated ATP synthase deficiency(YZj5,4gl2H 8  &f-1S3Gingival fibromatosis-progressive deafness syndromePapillon-Lefèvre syndrome1-= , - &L+| gFb@GNB5-related intellectual disability-cardiac arrhythmia syndrome"31@Zw~ u #b*p--/<Distal deletion 15q</6<BE[mqEFko) )w]Mj"$&(9-(-0vxS w_Sepsis in premature infants3'Vq~QSdo.  7 ~ #iP*+,.h1Nx?x{r{}=D Fabry diseaseHS[]dphm 67ikYcegnuo-.1   H   / n--0Zy([Aase-Smith syndromeyk Z h eAMucolipidosis type III l%knv "r"u0ZwQ Jacobsen syndromeL~<?DW\fdqV]r'7GQ[ G n  Z | -j"&'K*  ,-Familial partial lipodystrophy, Dunnigan type"73Weu=cgk = ~ 3#/421Marshall-Smith syndrome<P)SfG Z c  |W*8+w mp&Pediatric systemic lupus erythematosus5OS]d{,Y<QZ`&. } -+bbc[xtPBeta-thalassemia,9,gQo-H+.~/S jp8Combined immunodeficiency due to partial RAG1 deficiency bp Ns* ANKX6-2-related autosomal recessive hypomyelinating leukodystrophy; 4C  o ' Z eXxREvans syndrome ,bp.0Z*k JInherited isolated adrenal insufficiency due to partial CYP11A1 deficiency4!%7CPVi 7 V # R  (!"")*%+b-..//161=26vvUMaple syrup urine disease X#H- j&RHYNS syndromeZmp \ b)Y,2M$BRESEK syndromeLYnmq8adM< Z y"*p0\,Thin ribs-tubular bones-dysmorphism syndromef T =Adrenocortical carcinoma with pure aldosterone hypersecretionh6,z T .  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#C#V#_#g#q/11c[vWolf-Hirschhorn syndrome_/MNO  <B[\fmdR_v`r 8 Z # s/5!g"~&2&'}(*p.w~4Intermediate osteopetrosis o c S Z orRy;gMMacrocephaly-intellectual disability-left ventricular non compaction syndromeM<BE!F7 )MfK]_kw  u | 6qL<Mp!%(L)+Z.0x} `bN#Propionic acidemia f *-u!Familial colorectal cancer Type X2c[z w 2 H o M N IEjX)))~* *"/Q/^/0Z4juSimpson-Golabi-Behmel syndromeO/HIb~/<f^HI]_fy'tw Z h k D | ^q" %@(N+,(-wV ^Multiple symmetric lipomatosis W#k I#&fzPneumocystosis -. h ; ><s#)..0Nc3c[z|w}K>Multifocal infantile hemangioma with extracutenous involvementSHVkQo %!w7Chondrodysplasia-difference of sex development syndrome%7Eh T &K'Ah EEC syndrome5/DL~gry>emx 8> / i5Y !%%&L(G TnGCentral retinal vein occlusion<D`n=i0,2)w!w|=qlSandhoff disease%mj,c  \ h)orSSevere intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia/<BM] -&k'*po/Ectodermal dysplasia, trichoodontoonychial type nR5a \%Progressive myoclonic epilepsy type 3/8  E H5h+++0kHaddad syndrome E)(0,Systemic lupus erythematosus,]6Y< QVZ } -/50ZNbx}*-0=LKf Menke-Hennekam syndrome, <mq!i[< Z n |q"*+11c F)DGlycogen storage disease due to hepatic glycogen synthase deficiency ^ g  +.1CfJuvenile temporal arteritisX y dVpcX-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityZnw~DUWfmq!F7()^`fi_fk52G & = Z h Z;")+.0012 xx{ w Am %Idiopathic hypereosinophilic syndromeNn ,CYjclQXfo.23Az  2  / ^ I m""&f+s.y.1buxz[9t ] b d /VkX-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome-3PW[mq> 49f & [!!"/ -Gaucher disease type 1179rwQTZdo, ] Honw)*/|V  Yellow fever/S~QdU X [ +.y.|1xNgb7u5ux?z){||}B Hand-foot-genital syndrome /JL-]q5!g%&2&'2'y'}.9P BNAR syndromeh (R./m Achromatopsia!'[eO*F{/ cwwxwxib.Adult-onset foveomacular vitelliform dystrophy 'cs2?Colonic atresia #.(z-Retinal capillary malformation!jn{N%- .n02w@xB8}X-linked corneal dermoid<g]):Adenylosuccinate synthetase-like 1-related distal myopathy# 7 0 `*""#"#C#V#Z#]#p#ucvoy~2Hereditary sensory and autonomic neuropathy type 22 U  * l-Spondylometaphyseal dysplasia, Kozlowski type,' Z g 3 5 z ~  1 b i l q  Y C &')vQvpl$Familial congenital mirror movements,07  <bb l$Multiple epiphyseal dysplasia type 5hik )  b p % Z o "`"|)xwxxeAtkin-Flaitz syndrome5<PQ90fukSpinocerebellar ataxia type 40C Xwx qCerebrocostomandibular syndrome[7]T  n S q(2.vJPmPrimary hyperoxaluria type 3 y & W!/0| TChoreoacanthocytosisV#FYl H  $ 8 ' ~ 4 n u m,"?#Y*8.////0,011b bc:c[ccv v@y |c||||l/Congenital infiltrating lipomatosis of the face%/D$ 8&)'.0R0x\y/GK/ ZygomycosisLS{  <nu3 VS9;A O   #BDP./S0W0Z012Nabuazz}}}}42q c g9 PPitt-Hopkins syndromeE6%BU!F'0@ & 8 M Z C")!)')+,$.9./0Sl wZ8Autosomal recessive axonal neuropathy with neuromyotonia/#0[v 4 7 k  0 > I Q n t ~NZ y""##-#C#Y#]#u#2cu6Facial dysmorphism-shawl scrotum-joint laxity syndrome1/<?qfHrw ) ){ Insulinoma"l9J9  ILo  [)&*P,/0ZFGnathodiaphyseal dysplasia Z W2!:Huntington disease-like syndrome due to C9ORF72 expansions489 2 R42Episodic ataxia type 7 h,S  k >+Pemphigoid gestationisV eT> Hemophilia Ajsz 5&S.q//uxIFPRKAR1B-related neurodegenerative dementia with intermediate filamentsa|  2 : **1v\8Severe combined immunodeficiency due to FOXN1 deficiency  1&Linear atrophoderma of Moulinz]!Amaurosis-hypertrichosis syndrome $,>e!3g ;Phakomatosis pigmentovascularisDPH 1 IWaldenström macroglobulinemia-Sm=cRiu-A  2 I i n&f)*Y0Zt7bGClassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency8(,=>b+Il% i 7 V ) R7X !"(+b.0{0|01=c$ckcuvyZybyyz)6+Tatton-Brown-Rahman syndrome(/7<>f_ku'G  & H 8 <"*p,-0$u!Benign familial neonatal epilepsy8Uy"*B++++,{/,'a!Isolated corpus callosum agenesis 0 & B )*p|c| $Tibial aplasia-ectrodactyly syndrome`  +_&sFamilial tumoral calcinosisyI ].*tPeters plus syndromeT /<IK~7<W[fFd>Sjk'GH | q>s>!y!""""+1x]Spinocerebellar ataxia type 4   > nZ&f*N*OWMX/X-linked neurodegenerative syndrome, Hamel typej*pIaCataract-microcornea syndrome!dkh Polyembryoma52Z  H n ,*!0umuv{ 'XPIsolated hemihyperplasia D Z kwVGAortic arch anomaly-facial dysmorphism-intellectual disability syndrome/DEQf ? )0)Multiple epiphyseal dysplasia, Lowry type<[F Z ` g ) G")YHAc/Paraparetic variant of Guillain-Barré syndrome  Q +X.\.0cs Melnick-Needles syndrome#L~%<DP[m~f- Z q ?  dW&+&'(BcGaucher disease]]m79O9]krswevQTZdo,-GK H ]  How"))**+/S/0ZyG [UwKoolen-De Vries syndrome</IKL~Q\EF5fKoG Z ^!3"&) Proteus-like syndrome /!g<Lt6 \ %)*7*@z,Adenine phosphoribosyltransferase deficiency S]6.H0[1+1Nub!.Autosomal recessive spastic paraplegia type 59  y [ 2Maffucci syndromeU Z ] M Q HEm%%x!}Malignant atrophic papulosis"Kez \   >D|m&f)3*/90Zz bfKAtaxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome!,Q & . ; ' y.^!t.Autosomal recessive spastic paraplegia type 61  0wx Weismann-Netter syndrome4o Z   i We) N9RNF13-related severe early-onset epileptic encephalopathy1KU [fi2t Z |Z*]+,,../B00cc=` =Alpha-mannosidosis*/<PmYi Z \ ZW"u*7*+,ZnJ&Heart defects-limb shortening syndrome]_a >P RIN2 syndromeW/f.T Z cN *+1G{7Angelman syndrome due to imprinting defect in 15q11-q13/@X  1 C2""|B^ Trisomy 5p 7<G H Z d!" *p6Beta-thalassemia intermedia$r35=N9przZ, c*+./d0at j,Annular pancreasNarcolepsy type 16:F  8 j)&)'0bbu>sN50.Disseminated superficial actinic porokeratosis , l`ؖHemangioblastoma   %%)P*-0ux5{!Riboflavin transporter deficiency#'6i ,89-H j2B)')0,+4Alacrimia-choreoathetosis-liver dysfunction syndrome[) $/ADy48@^fi GIK{  ) 1 H u Z c q 6 ] ^  1 w l*C*E+,.|./y040000NEbc9cocqcru1uxy yKyy# 8Imperforate oropharynx-costovertebral anomalies syndrome fqXfV.2 > y q&(7,&m AOsteopathia striata-pigmentary dermopathy-white forelock syndrome T)>&Campomelia, Cumming type  \ / WGx*wf*Angel-shaped phalango-epiphyseal dysplasia fi |*"'2wCushing disease@36el"%)c,Zz`& 2 . R   c(,)*,j..1abc'uz4z{e|e|N j+VSevere neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion%U[q'8[28 1 |o"(*4*p+Y+Z+.00bfBmAREDYLD syndromeE/?fF T ZZ&(G+RH&Bullous diffuse cutaneous mastocytosis Johanson-Blizzard syndrome%/~x3D <so  |" ()w/Marinesco-Sjögren syndrome-)0iRw  Z q ~ o&f) )30p4t@Autosomal recessive cerebellar ataxia-movement disorder syndrome:8 > L X)*Oc<|Congenital hydrocephalusDfdP;[G u`^ *Absence deformity of leg-cataract syndrome  Z  *&Xf"3-methylglutaconic aciduria type 1 4V  T Hemorrhagic fever-renal syndrome<]cn6 ,qQo*.2iz 7 > Y ^ Zy++.x/0Z1N1b7u5x?z)z}*nFRAXF syndromev 1\$Tricho-retino-dento-digital syndrome ^'?+=uhITricuspid atresia ]_wG-n<Alpha-1-antitrypsin deficiencydrtwz1>n/S0c0}}~|.Autosomal recessive spastic paraplegia type 54:V ucxJCystic fibrosis#mpr39;>  ^ 1/2I~~VW#X-linked spastic paraplegia type 16 <4 { 1Cranioectodermal dysplasia  !YSfq !3"& 7Pectus excavatum-macrocephaly-dysplastic nails syndromePQt |)+!%Intrahepatic cholestasis of pregnancy5:9V S X ^ S+m//01axz| <@Glycogen storage disease due to lactate dehydrogenase deficiency Sg a B #<ɴ WHIM syndrome"dS`*>w| b.J../1c_uy,y2 ky%Hemiparkinsonism-hemiatrophy syndrome 49 Z,,C01yeTriple A syndromed>NC- H Z(]1Epilepsy-microcephaly-skeletal dysplasia syndrome Z k$Lethal acantholytic erosive disordery1fh , >q)+z*{2~2McCune-Albright syndrome5#5u|Dm<4:DMUZft+Td Z ]  % . I?"@)))*'.-.//SNuvy` R5Leukoencephalopathy-palmoplantar keratoderma syndrome,F  4*]uc b~Restrictive dermopathy:/I<[qmsV_ks) % $jz{6w 4&')01c ue i 4 Laryngeal abductor paralysisA-g0GMPPB-related limb-girdle muscular dystrophy R19,f- < B K *"#%#]uKFoix-Chavany-Marie syndrome@H&Hh1Obesity due to prohormone convertase I deficiency78Jt}   5"#-E/Combined deficiency of factor V and factor VIIIez  5 =.quZOIsolated nail clubbing  -t ,$,(/ )Tracheobronchopathia osteochondroplasticaI*-9 ;(C0ccRxlz zx}v5+*Familial reactive perforating collagenosisy^1+s+t.60"bLv{8q22.1 microdeletion syndrome *GWqyES`< !& )*G8S Paris-Trousseau thrombocytopeniaZ]:5Heart defect-tongue hamartoma-polysyndactyly syndromek.\]\Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome<?]514@fA_ 1 8 Z 7 C z |S":")'*b+++,P,./0b@bhx5$Focal facial dermal dysplasia type I&31!3 &*+>8{Episodic ataxia type 5|  3Oculoauriculovertebral spectrum with radial defectsLNDg -dso'/x!g!"%&Hw\46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency%,>5!Isovaleric acidemia 9  U g 8j"-|WParathyroid carcinoma$Sky,I df  ] k J ].E| !)v*$-//0Z Yd] Desminopathycm %#]uuvoAcrodysostosis57/<GmZ]=' Z q   | XW&f'A)S))*7*+.0PCowden syndrome9$Mm!4U% Z h * - &K!%)v///R11 b , Malakoplakia ]d +s1 b j Li-Fraumeni syndrome#u h i m + - / E H J N AX%x%*$/]/^//00uvv 16Severe neonatal-onset encephalopathy with microcephaly -8N"*Y*[,P,*Peripheral primitive neuroectodermal tumor%: do   N Z n(>* .0c[uswy6{ g{ Fusariosis/MYpS`*9>A  t,\,/0NNab[uaz z}}}}2 b jA IniencephalyNhq;P.$  n D!"&(=0w G6Mesomelic dwarfism-cleft palate-camptodactyly syndromef)5 ^*W*@Isochromosomy Yq> "2G\ Pai syndrome<d$)qkBHNF1B-related autosomal dominant tubulointerstitial kidney disease/SUh/m-35Yfue ^%/</=2IKCongenital short bowel syndrome }yGamma-heavy chain diseaseZQbo &f0Z(5*Pyruvate dehydrogenase E1-alpha deficiency7j4:[][ 4GNg{  . S 8 &,:W&b)P+++,./`001cxMCrandall syndrome #<" 6 His bundle tachycardiaf--2Familial idiopathic dilatation of the right atriumh.:<3-.0n1xwx{{-WNgGlobal developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome8<Q1E'@<3  0q,Mj!*, ,-00x}lAE -X-linked intellectual disability, Snyder typeB/V/<?BDqzF8@KKK 1 rU"))*%*+,,0a?)Mixed connective tissue diseaseD]pmIYjk<QVZ,.6 k  + Z&f)*.>//0Z1"2Nbxx|q*,-5qRLIMAGe syndrome /N~qC CHSyringocystadenoma papilliferum*? b7dTSH-secreting pituitary adenomaB,j"67DEMUZdf]9c   7 T h m <c 0 7,b---./ /0Y0Z00uBw5w9w|g#Familial hyperaldosteronism type II h6,z T -- b .Autosomal recessive spastic paraplegia type 39 C  Z#_y,Autosomal dominant spastic paraplegia type 4 D  m# , Cenani-Lenz syndrome)<Bm5A 9 Z | 5!&2/VRing chromosome 6 syndrome <-r&X!$Autosomal spastic paraplegia type 72 ~ 2 ,0~ -2Muscular pseudohypertrophy-hypothyroidism syndrome5,w 8 ~ F"Hypermobile Ehlers-Danlos syndromeE3')I]`fb8  8  8 U Z Ij(N*-0,0Z01x{w}%RSevere microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome /<DQ8Pd Z5&),(pE9Mitochondrial DNA-related cardiomyopathy and hearing lossNU6,CFcgl.g E #&f,N0Z0wm ISpastic tetraplegia-retinitis pigmentosa-intellectual disability syndromeu H!|3%Distal Xq28 microduplication syndrome+G\15kw03 j!g*n+-//1ucuf5APC-related attenuated familial adenomatous polyposis p E N O *kXs @%x){+<+=,/c,v hC /Autosomal recessive multiple pterygium syndromeA. 3<DW[lmq#$`n)r S Z ^N"" && &-(N.B1w5$Pyruvate dehydrogenase E2 deficiency"X [ :*p+Z0[bby||+NIminoglycinuria  $ A =Tall stature-intellectual disability-renal anomalies syndrome/i7<}0]b)07 ; k h,.0a0uUy]VBB LNelson syndrome6>fi)z T .Z c#Z*$---./w9w ZTML0X-linked intellectual disability, Shrimpton type\*p9}%Primary membranous glomerulonephritis_Neonatal alloimmune neutropenia p* }P&H}~Db$Ulnar hypoplasia-split foot syndrome/ ef6>Thumb stiffness-brachydactyly-intellectual disability syndromek$g6.+Late-onset junctional epidermolysis bullosa  ,[N } !Ophthalmomandibulomelic dysplasiaj` F')e&-0SHereditary chronic pancreatitis 3]+0[v'g`Chilblain lupus3 k )+s0%b+bvxx j#F Morvan syndromeLKEQCancer-associated retinopathy#<[eQm ? N Ef*q03* *$- //]/uivw@wxB 1Ruvalcaba syndrome$\7 Z |q%&S'A)S~ wF *Upper limb mesomelic dysplasia, type Fryns $%%Distal 22q11.2 microdeletion syndrome< 3?DkEfV]_{| < / h q qNWj$&C&(8vkRh deficiency syndromeqV X\^~, 0Nc[}~n4'Phacoanaphylactic uveitis<egn]^,,,- .n//Y/Z/[bbcwwx{{q ZqM,Oligoarticular juvenile idiopathic arthritis*<IYZf "+mvy~.Autosomal recessive spastic paraplegia type 53mtfGy *O q{a+X-linked Charcot-Marie-Tooth disease type 6v J x 0 A n "9c!Ichthyosis-hypotrichosis syndromeb2/Isolated thyroid-stimulating hormone deficiency(5UfIO~  4 *fj 5"|"0Z1cyzyy{> Metachondromatosis ]E**',Pancreatic triacylglycerol lipase deficiencyI c  ).t/0Z}Q)!17p13.3 microduplication syndromeb<\q^G |q" w#Craniofacial-deafness-hand syndrome<G4E |$&0PY3Neonatal Marfan syndrome+ [qP;[fZbu1 8 S j<"&)*.01uUThakker-Donnai syndrome~<fF}6]d  yT Multiple synostoses syndrome Dk=&-)S,(A {Infantile spasms syndrome8 H +q0|Bernard-Soulier syndromedn36""._.g/o1+49,XXXYY syndrome"6>/<[fEG  ") +,OSe Acrogeria[f Z \G j w)Hidrotic ectodermal dysplasia, Halal typeNm1Zt 5N _?Intellectual disability syndrome due to a DYRK1A point mutationD/6kz}~U!A@]kr{'GH ; Z Bj#+-.1B_M?Microphthalmia-ankyloblepharon-intellectual disability syndrome8&Walker-Warburg syndrome2fq,8Kd),03;GN  3%" ) 0p*.Medium chain acyl-CoA dehydrogenase deficiency%#uh E ; ^ ~ B u4-.0Zu`/ISPD-related limb-girdle muscular dystrophy R20Z k{ q#"#%,u^v,Genetic steroid-resistant nephrotic syndrome]a  .1#1N{UABeta amyloidosis, Dutch type > .QU Mal de Meleda [*+sbyz&BSyndactyly-telecanthus-anogenital and renal malformations syndromeBLSUVh!,q-{ Dq?J!-(FMultiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome<  s ^ g ) 1uytH8Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type- ,u[cg g  ( H a 6 > 8h &f)(*Y+,/0[4NALECT2 amyloidosis S]6U} [ ^ /q/n .Spastic paraplegia-nephritis-deafness syndrome ]p6Cw q)6aInfantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 4C-UV  "011v59Vitamin B12-unresponsive methylmalonic acidemia type mut-S4fQSo2 .MCutis laxa-Marfanoid syndrome[`.v1 P"17q21.31 microduplication syndromeB[d>7< |qj3Neonatal ichthyosis-sclerosing cholangitis syndrometԞ3q29 microduplication syndrome\mq8dS],<-Ff4$"Idiopathic uveal effusion syndrome 8Onc jt/0bxg{&Scimitar syndrome'w[]_cdks|(),2;k**-(-v---0^11cwlmzow+Paternal uniparental disomy of chromosome 5 KB  ^ )a,?wDistal deletion 10q\ LUw?DEQU[]dq!FY%)0ESiV_k<y 8 U [ z | kqoM,bj!O!j""),p.uPostaxial acrofacial dysostosis[frzq 5!gwIsolated Pierre Robin syndrome[AGp S "(C)'0D!6;l04kpz 1 M Z ) ^DH"B1bl'(Rapidly involuting congenital hemangioma cQ**yzB}-Autosomal dominant spastic paraplegia type 13 mC v Z  Xl|$Multiple epiphyseal dysplasia type 1`ik g ) b % oxwxxxDFamilial keratoacanthoma h%1 b j /6-pyruvoyl-tetrahydropterin synthase deficiency48Cy  u )9SSevere motor and intellectual disabilities-sensorineural deafness-dystonia syndromemH eX01Xi0Juvenile xanthogranuloma *<M&.6.n MAGel amyloidosis-]mUI}f k >@ )')),\-./02c@eF ALG13-CDG<KW1   u 00u_{/Hypertelorism-microtia-facial clefting syndromeU<0 A !g#.GBöök syndrome  5 wQ%Neuronal intestinal pseudoobstructionk +Paternal uniparental disomy of chromosome X6fr d "'A,OPBrugada syndrome q----/MPrader-Willi syndromeJ.;<@368:0iLG &   Z c 6 j")(*M,-. 0{0|01j1vy| wB}\-Autosomal dominant spastic paraplegia type 37 C vy B l0Z }$Autoimmune polyendocrinopathy type 1e=< .O  3{si+Primary non-essential cutis verticis gyrata"]_{ Z:)-)BvBMicrocephaly-thin corpus callosum-intellectual disability syndromeA@Co  lX0OLPseudodiastrophic dysplasia  Z c"w Monosomy 9p:/>J<W[q8>EFR`:r Z |5!g%& &wDistal duplication 15q7bDTW[Ek dw5""Bickerstaff brainstem encephalitis/Z  #D*.  1 > j K g j)X&)*O*w,./0001uivoy}s|Diethylstilbestrol syndrome #/6dV - 7 " /v*6*9Intermediate generalized junctional epidermolysis bullosa !3o  ^+Lissencephaly syndrome, Norman-Roberts type#  4<TU^q_w.2 {~,P,.1lJuvenile sialidosis type 2&Mmq<8R[ &K "&)*8*pyGNecrobiosis lipoidica343 , *+s.c}} b c d jtAcute adrenal insufficiency,S7CP,z iei  7 V RX  "+b.0L0ZuBu 5ZCraniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome(M<[q%(_rZj{)'+0a1xO wiEArachnodactyly-abnormal ossification-intellectual disability syndrome[J8 |")+)E..[5/#Acrokeratosis verruciformis of Hopf j bbc c k~Acute bilirubin encephalopathy?V 7  ..1b}j_MCerebral Amyloid Angiopathy >HZ ( j./0drxO 'Autosomal dominant primary microcephalyq&L.Generalized glucocorticoid resistance syndrome>6:l% T . R (.0Zu ,Cerebral visual impairment)acuV \z  O aj\**,01bc=xP}.BQSVAmish nemaline myopathy '9 PNMDA receptor encephalitis5 48U  2 C ";)9,////0,0-z~~ 4OYXh Glioblastoma<, 2 /0Z1^cuy 1Müllerian duct anomalies-limb anomalies syndrome5 _5" &SFamilial dysautonomia%MS !g6'Lq7  Z V "&f* T"Insulin-resistance syndrome type B2]{9?JW< QZ* 5 i    / Z  <(Zw [!(../y/0ZuFMucopolysaccharidosis type 4"m]fv Z q ) X*W(B!@Mucolipidosis type II?J0S`Iafnuw{ + 6 o;hC""(C(,2,_,d,0P0ew{-Carnitine palmitoyl transferase 1A deficiency#wgmw ^  W-0Z Costello syndrome0%f3f.;>]bgjH R5"$&1GybJ46,XY difference of sex development due to isolated 17,20-lyase deficiency$ !%/6/7d    (!"""./ /P/v| 5q14.3 microdeletion syndromeBQ\>FaG  |*p.1_yGChylomicron retention diseaseu F ^ J ~ *O^PCone rod dystrophy'[eQ90wFGray platelet syndromePQd /Mu)Hydrocephaly-cerebellar agenesis syndrome1bTSpastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"<qC y l,,/001?Autosomal dominant adult-onset proximal spinal muscular atrophy9k[ : L ? B u #0Z [Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome1f"Osteochondrosis of the tarsal bone Y )**bxxyK|6HProgressive supranuclear palsy-pure akinesia with gait freezing syndrome;U] #]z|F|Q||,Congenital muscular dystrophy, Fukuyama type *!M[LlG 1 ~ \%*pu^Z*+S-adenosylhomocysteine hydrolase deficiency,5),pzfGp H u > ^  e ")**.|./N01xJ'Syndromic recessive X-linked ichthyosisSz; M j*r 6 *Musculocontractural Ehlers-Danlos syndrome? U~4<Wfmy!P3,S-.[vd;G Z | ~  V(0|}A DextrocardiaE^[s5  " +>"C*x-S-_-d//l @Mirror polydactyly-vertebral segmentation-limbs defects syndrome% ^&eQAutosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction [ l4X ",uw]Juvenile absence epilepsy 08IU E X Limb-mammary syndrome 4D<t q%(.+./2AAL>Acute erythroid leukemia TZo/eay,.FKRP-related limb-girdle muscular dystrophy R9 l 7 Z u##Vuu Monosomy XqUV[mqy!67EJeho0irsu<_oyz'r 0 3 5 W Z ) - ^ r "9Z&85j5  !"#&'<'?),+011&ySpinocerebellar ataxia type 64C |  +)0w/xzw.Autosomal recessive spastic paraplegia type 55ZrC  x 7 x b##C&fk,Ectodermal dysplasia-skin fragility syndrome-bRN /xY[u 5Osteoporosis-oculocutaneous hypopigmentation syndrome ! p 8[_q |Sj!"$&*n+ //01YACerebrooculonasal syndrome<QWfFj" &&*6+1_yIImmunodeficiency due to selective anti-polysaccharide antibody deficiency3 j*0`v| BBBB= Coats diseaseQOnu.Pancreatic agenesis-holoprosencephaly syndrome TqyYYP %)*,00xKyBgCrimean-Congo hemorrhagic feverN]=e6N: wq~QTZ,9  L 7 =*+-.J.N.x.y/w//2Ngb7bcLc[u5xqyz} ZCole-Carpenter syndrome[P6fH U Z \ W.m?Cortical blindness-intellectual disability-polydactyly syndrome4WC |+`0Brachytelephalangy-dysmorphism-Kallmann syndrome,0<Qk ) |" &))qMImmunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiencyS K|ZLDeficiency in anterior pituitary function-variable immunodeficiency syndrome"8-<>I 7  V hM +d-0Z0vvg&'Hyperinsulinism-hyperammonemia syndrome 90I &j [+/0rQFemur-fibula-ulna complex   e&SJFEnteric anendocrinosis  36c +W#Myoclonus-dystonia syndrome 48 4)#/+b20p12.3 microdeletion syndrome%<GW_G!g'K,(-\Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome[qy!<K{M  *,L~.Spinocerebellar ataxia type 29:  *n0c=4Pyruvate dehydrogenase E3-binding protein deficiency% GVg ; p 8"*p*M4Urocanic aciduria X ) +*/|,LPtosis-upper ocular movement limitation-absence of lacrimal punctum syndrome4GTWfy1>D qF<0J|8Panner disease ajO i&Rbxsx6(Punctate palmoplantar keratoderma type 1 o , - E )~+t/]/^/00bbwRT`QGlanzmann thrombasthenia 6._1+uz.YTownes-Brocks syndromeB/0LMSVYDmy78Ed57t _dikG  / q!g" $&&'K([(*,(w,Paternal 20q13.2q13.3 microdeletion syndrome<B[\2*,O. =X-linked intellectual disability-craniofacioskeletal syndrome0/6~BKQfF)]_k.GQo-z z U XS !g$),-[.9uUEmery-Nelson syndrome W\'r%0P1Autoimmune hypoparathyroidism y. U Y B I t**,-/ui^'Tufted angiomaI5Qo I*,[.|0{,EX-linked intellectual disability-hypotonia-movement disorder syndromem: fGX Z4vQ:Neonatal acute respiratory distress due to SP-B deficiency ,A S  suz Toriello-Carey syndrome.%[mqy: @dfjk G S |""&1u?Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome9YI ~ u!#g&f'1x6LV`pRecurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome3]4CyKgy}  H P  ^ g + 8  ""*B,N,O,P-0y|` NInclusion body myopathy with Paget disease of bone and frontotemporal dementia+ ucfa L M c {  S > t u tuZ,2/301xvjDistal deletion 9p/;<fF |!g& &+.w TKnuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome!O~Loeys-Dietz syndromeb<[P)S]fkd 9 W ZNn.Banki syndromeq[#16p11.2p12.2 microdeletion syndrome+4\mqyEY & 8 u |<%)'-.0P%Glutaryl-CoA dehydrogenase deficiency+=469]&GV   # H N Z %&f.0[01N11|ZZBazex syndrome o h ,g/u~c#Ectopic aldosterone-producing tumor h6, T O- 6_Cutaneous mastocytoma 0. 7*.1accvz4|9 c d i1.Cushing syndrome due to ectopic ACTH secretionQ36el"%),Zz `& 2 j 1 . R BE]a (,),j../]0n1abc'c>uvvvvvz4z{e|e|N j+NGabriele-de Vries syndromeIJ~ )3DQ[fqu5849@Sw<G{ & s4j""(L)*p,/,K,P,0| k?Epidermolysis bullosa simplex with circinate migratory erythema Y/yEy e\ Urachal cyst  h**+/5b7d{ }z;Microlissencephaly;C*GHNb&*pbf~d|Dermoodontodysplasia/ 5&LdHAlopecia-intellectual disability-hypergonadotropic hypogonadism syndrome/u %Mercury poisoning6 49q.2  7 > T slCatel-Manzke syndrome%<[ffk]_G Zq*$(-) wu"Familial thyroid dyshormonogenesisSU~ m * G"|"1ccyy{5ALG3-CDG-wmny24fO &) r#+./N/}00[01wm1q21.1 microdeletion syndrome/L~W8dfk% 8 Zqj!3'K(8,(-[KSilver-Russell syndrome due to maternal uniparental disomy of chromosome 11DEV[ ql"x--Isolated permanent neonatal diabetes mellitus"|mY[ K " g   ov*p*+b121@;Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion&~QU5t[fA5 >e{ ").0a1 bX-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndromeGHG_+Undifferentiated connective tissue syndromeN-U Isotretinoin syndrome [d# F!gG Juvenile nephropathic cystinosis'S]rue5d T U V [  6  ,)+b,2.161N ZGwCocaine embryofetopathyOCZ$&+\19Combined immunodeficiency due to CRAC channel dysfunctionQV* h  ~M+L, m#Charcot-Marie-Tooth disease type 4C1KiD-  * 7 c Z 4 B g tm): #C&*w0vo5 Werner syndrome;#6WekAHcz. = h p * , - J ?ZG#%()*//)3G j w#Acromelic frontonasal dysplasia%<!1$G ' #&).bM'9Isolated asymptomatic elevation of creatine phosphokinase 'Fraser syndromeB./>DO<dfry8j-fRBG$)5 o w ^-9!g!" "-&b(9()11wFAlbinism-deafness syndromeLwxd(Bilateral striopallidodentate calcinosis pQG VhPseudomyxoma peritonei  -  ^Sandhoff disease, juvenile form   L 1 uXy[#Multiple endocrine neoplasia type 1J"6MQU  + f  c j * H J M N . 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)))))+Zvv `Z45Posterior column ataxia-retinitis pigmentosa syndrome<D _v c  / Z B9*O0a01ue )Odonto-onycho dysplasia-alopecia syndrome <R&LVXIdiopathic aplastic anemia =QSTho z|EPostencephalitic parkinsonism)   F M \ I X"=)9,1bcpu b fLocked-in syndromemH- y .;Uveal coloboma-cleft lip and palate-intellectual disability78dsMosaic trisomy 14/<[fE d-x!g" w&.Obesity due to leptin receptor gene deficiency/?Jk  >+  5""Z?ENeurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency4Cd-Gg ( 0 8 ' ,F.016DOORS syndromeY>Oy~ &<Wq!Sn8f2N[ 1 P y qZ  "$&f&(k),>,..0r12 wz2zWilson disease7=49Yjru QVo  ] ^  Z#"*U/S1 ` OYz$Autosomal spastic paraplegia type 58!9C  y 7 L [ mX&f+Xc ucu Trisomy 8q<[\fF0k d/" (9)/wkPosterior urethral valve LS~<6!"")**0*1N]Q"Joubert syndrome with renal defect$Spfd`(9$8N s Z F.w`xP Adenocarcinoma of the anal canal   P)~0v j Atypical Rett syndrome51'49K 1 8 C H Z < Blq,P./011bc+vL'_ w(pBartter syndromeHy Talo-patello-scaphoid osteolysis :'<m1Combined oxidative phosphorylation defect type 23cg o > 8 < ""(C.1z1111y Penoscrotal transposition/1ENhn [+fHq+)2 HANAC syndromeS B2)W+Carbamoyl-phosphate synthetase 1 deficiency- IlS7Cloverleaf skull-multiple congenital anomalies syndrome><B[q8y] t *W"%w)Anti-glomerular basement membrane diseaseS]Yo-9A I 1hwCernunnos-XLF deficiency@TQ`o M*|,Neonatal inflammatory skin and bowel disease  *+{+,Z0fay gA+Ringed hair disease)AMultiple osteochondromas8Y`:;`  q  )  D N wL^"Wm "`&]&b'A)/w0Nbvx{~;nIsolated epispadias'L T!xNAcrorenal syndrome S[ e!/5Acute interstitial pneumonia!6.>A > +0Z0n0bYb[c0c1xnxz{|k}z*Infant acute respiratory distress syndromeVq~* 7 >.0xt i@Preaxial polydactyly-colobomata-intellectual disability syndrome 7u/Mw3^Beemer-Ertbruggen syndrome >[f6Q-*wt Dent disease(S\]aruyf ] g  % 6 M ")T,N1Nz.Combined immunodeficiency-enteropathy spectrum h0]b   Nhm **+\/Sa+\i EEM syndrome8RJW7High-grade dysplasia in patients with Barrett esophagusx #3-hydroxy-3-methylglutaric aciduria6-8l Zfo8eg & 0 1 7 ^ g *p+[0Z]Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome<U! )9CU 1r+1g%Hepatitis delta rwzd,/S0Z||*Absence of the pulmonary artery%[_cdhkqw|),.9> + 0).01x1cz{|m5(#Isolated congenital onychodysplasiai> ZS &*),1/01xSxUz2d&0POMT2-related limb-girdle muscular dystrophy R140lG kq#-bQuu71Lower motor neuron syndrome with late-adult onset9& L u y ~"##"#%#]|Hemimegalencephaly! 8GNU{ X&*C*c*p+Y+++++/0Y1cx}. +Roussy-Lévy syndrome~  7 Z  ) g m"*M4CDKL5-deficiency disorder4QU\5A148 u Z CC&|*B*Y+,O,P,./00:`OX6TMEM70-related mitochondrial encephalo-cardio-myopathy/MBq[cginH & O > ,O-6)ZPLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement  NiyE iMosaic monosomy XqUV[mqy!67EJeho0irsu<_oyz'r 0 3 5 W Z ) - ^ r "9Z&85j5  !"#&'<'?),+011&0Marshall syndrome*<GW[!; | ) |])0Pot&Spondyloepiphyseal dysplasia congenita*<[m! Z ) z  l Z !"3&`)O)Y0Pxvxw5Familial pancreatic carcinoma3  - P ^ Z%,E0.0bMChristianson syndrome)/n>Z4@fGH H ",Pz9SUNCT syndromeeh-&x.xz4z{}H5u#Post-traumatic pituitary deficiency,78_g 7 h 5"&(G0Z9 ECongenital laryngomalaciaAHMiI-Hereditary progressive mucinous histiocytosiscvyGorlin syndrome-,/<d| Z h o * E y 8IV )k)r)t)y)z_Methimazole embryofetopathy /45R] UX-linked acrogigantism$b7Mfi0cZ)  M < [)'-00bKbv=yzz] `1Peripheral motor neuropathy-dysautonomia syndrome'k I Moynahan syndrome < *Beta-mercaptolactate cysteine disulfiduriaE\ff_< 1 ) pdPrimary dystonia, DYT13 type4I|~ ) 1/CQJalili syndrome 'e+A`wEmanuel syndromeP6YzW[mq!F ^VW]_jkr| G   Z -se#&%.112xd>Cleft lip-retinopathy syndrome$5Developmental and speech delay due to SOX5 deficiencyN!Au Z z Sj.0lQ|Carney-Stratakis syndrome hm  l^sb6IOculocutaneous albinism type 3 {2,^c  23rnFGlycogen storage disease due to glycogen debranching enzyme deficiency%k ~9;Growth delay due to insulin-like growth factor I resistance? ugD+Blindness-scoliosis-arachnodactyly syndrome 5<jl Z0XmHereditary methemoglobinemia5P=  ;*p,P/W01b-Autosomal dominant spastic paraplegia type 19 C vy B l**O2bu>s5%Holocarboxylase synthetase deficiencyH< Q2 }+wT(Graham Little-Piccardi-Lassueur syndrome<,uB2Congenital pancreatic cyst Birdshot chorioretinopathy<benn,,,- vywBww x5ALG6-CDG#<q")p A Z \  : .0[1v6S]Isolated ectopia lentis /6;k&1lSilent sinus syndrome+Autosomal dominant dopa-responsive dystonia!m56DZv~ 8 [ ) Z  i0ZL Osteosarcoma j  SY[0c[wd7Acute inflammatory demyelinating polyradiculoneuropathy    7 u#]0y%Leukocyte adhesion deficiency type II: &/< C5o  8 P!g&b*8*p+,M.yNMy{[ eBvSpinocerebellar ataxia type 18m, * [ ( )2uAdrenocortical carcinomaP36[),  T & . X-.b.bc$c\u~v6T?PIntellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome= DEWqq '@M^/[]_ow & U Z |`d,*p+..bH|^ ;Autosomal recessive chorioretinopathy-microcephaly syndrome3TH ZF0lGAxonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy i >wZHc0cyERegional odontodysplasia$OQ#}%(;+A+Lx%H Y) )Osteopetrosis with renal tubular acidosis<~[PcQ 0MQTZo,W | 6 U L ]U *p*+/0R0[x\oOculocerebrocutaneous syndrome(<mydq)R^<[GN &')qp(Distal 7q11.23 microduplication syndromek NjZ XK aprosencephaly syndrome 8XY+]_ y=-Malignant migrating focal seizures of infancy:  H P Z*E*Y+Y01|Z'+Proboscis lateralis1z<QW78CLadfqxP]kG  #&&.-0 0T12}'h-%Cyanide-induced parkinsonism-dystonia*Hw|  : y Az'+q/}C Mulibrey nanism #T x`Parkes Weber syndrome,OddZ V h 9 ;  x Z STY%#()6001bcxqy|+ j;Chylous ascites hjTemple-Baraitser syndrome0%&<W> @  7 1%%&&&)*3*4*p,(,P001 1 [ 2q23.1 microduplication syndrome%&KdY1<X 8 B q"'G.q!Dysplasia epiphysealis hemimelicak ]  ) '* "l)Vc6Autosomal dominant Charcot-Marie-Tooth disease type 2E\ 0 mu4#V,2`v 84Non-insulinoma pancreatogenous hypoglycemia syndrome9J9q  ( Z /0Z Monosomy 18p&B[856P<r & w.$Transient neonatal diabetes mellitusMOm5[ ( ?&H1^Bullous pemphigoid3 *1R = = O.Autosomal recessive spastic paraplegia type 488C X  l&fxbRabiesDm IjOBraddock syndromez[fEPY, S Z y>d)Primary pulmonary hypoplasiaG[qs)+38; S 0xmxm `Cockayne syndrome type 19S]/Km*Dey6 9Co W| 8 Z ^ > Bo "[ Monosomy 5p47<ffHT Z *p,Pw n wBenign schwannomalB p@  %t%y&)*J00u HhHuntington disease-like 1,*:i F GHV{   1 2 7 G 1bC, 2^Proximal myotonic myopathy lMN,X-linked intellectual disability, Stoll type <W]q= Osteomesopyknosis Z  *_Early-onset Lafora body disease  8C.-lSyndactyly type 3'RMIntellectual disability-cardiac anomalies-short stature-joint laxity syndromeN/UYh}/4W[m!58Mad]do{|5G 8 n ~  qSy'8:!$' 'G),(-.B.011cw2Normosmic congenital hypogonadotropic hypogonadism& ,6v<"7eH s !O"".0auCMK0X-linked intellectual disability, Seemanova type<[ #,Feingold syndrome type 1#LMSUn{~[0[k q|STs%i&2(-[-i-1i|%Late-onset familial hypoaldosteronism Pi 7 V"/P1>c\6Spinocerebellar ataxia type 36mnC  * J L / Yj0+X-linked adrenoleukodystrophy$ <"Nc0   M Q  R j"@# -p cDouble outlet left ventricle<]hk ?>*-=--{^Crouzon syndrome!<G\md)-  ,<,z.v >Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome jf U&|4Moderate multiminicore disease with hand involvement'f p""#V)0g>Intermittent hydrarthrosisj k i7Spinocerebellar degeneration-corneal dystrophy syndrome k & ^8Hereditary neuropathy with liability to pressure palsies,EH- Z B I gmx&f = W!Familial spontaneous pneumothorax&7;Pediatric-onset Graves disease06U9SVcQp  ^  )-.. 1c#z4{' \ Scorpion envenomation:hn689Ccq T g   IO**L*x,--/012ab7c[uyz{:|}4 WB=_PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation&%)D\y!F}4 2XQ"*4+I+,P2c4 EAST syndrome%P[@ ) T e 1/1>u 7Symphalangism with multiple anomalies of hands and feetez5%'w''(uMpPeritoneal inclusion cyst    h u@3TRAPPC11-related limb-girdle muscular dystrophy R18@u ^ ~ B u"1b Prune belly syndrome" EHLS^]_dk   Z ^O/"*+\wm2p21 microdeletion syndromefK & U 8 ; vIsolated biliary atresiaZ5Zrt} F \ ^ S..xgDistal nebulin myopathyf ; B#-#C#g#q#u/1voPFAPA syndromeY   O  +c+f0Z0bc_~CUIsolated agammaglobulinemiaYHQRo* 0Z2 j1Hypertelorism-hypospadias-polysyndactyly syndrome"$'/01<QWfqq;$N ] 'K,(x1!19p13.3 microduplication syndrome3BT[fq!F:@i] , & E r!g*p01u[ul 6$IAutosomal dominant generalized epidermolysis bullosa simplex, severe form,e !3S-<@AI oG kS; "(:*,Z,.[ MI=Deafness-intellectual disability syndrome, Martin-Probst type 0SYn[q!E5T &55" *p* Shigellosis.*YtwQ* E   V ' &f0Z122aaac>dz*z|x}&mi Desmoid tumor~` ^)v* H| Cardiogenic shock cuz.g  7 + *&M-/01xnxxxNecrotizing enterocolitis"V[~QS8g  7 V  ,P+0Z0auz)!@Pancreatic hypoplasia-diabetes-congenital heart disease syndrome(ISY{']_djkw2  "=?),-5-=-[-l._{Solar urticaria. .xYxl9i %Spastic paraparesis-deafness syndrome C (Noonan syndrome with multiple lentigines2/N<EfHabgijz 9 Z - / k>'!(N--w9Megacystis-microcolon-intestinal hypoperistalsis syndromeH  $+w0Atypical progressive supranuclear palsy syndromeU9 AX#))+Zbu|Q\>Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome<D_ q*/{Chronic granulomatous disease R n1q j]Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder!4@ G 1 H M X"*p,xf^Craniodiaphyseal dysplasia r19p13.13 microdeletion syndrome/ <?qa<M | Dj*+.1u:QCarnosinase deficiencyK 1 H _YY Arachnoiditishm,  I0ZeBrain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeiUwz%?BDGUmq!5APa{f[_1GIN\   H   > y z  | QZ,:M"=""&1&(*p+,B,,-.+01&bw^`5 J - *p/RHolt-Oram syndromeyk]_k Z e'&1&e*,(-w UxAlpers-Huttenlocher syndromej8 H Q(Metachromatic leukodystrophy, adult form0: ,4  2 7 C H o / j t >Hh!0auz~MFRheumatoid factor-positive polyarticular juvenile idiopathic arthritisY`j k C*l)\+m+wGb+Presynaptic congenital myasthenic syndromesC4q5Z^fKLR X u 6 8 B < mu57 #](C)(,.2c9ucxz'/!Primary progressive freezing gait6CH]wy|~ 7 : \0T X$Hyperostosis corticalis generalisata/y U) &Familial osteodysplasia, Anderson type/35k>6e Z c  u q&()! Gangliocytoma"M% ;  Z D Io(>--0Y0uB.Autosomal recessive spastic paraplegia type 21%C >X)/+ 5Brachymorphism-onychodysplasia-dysphalangism syndrome&3EW\>_a  A& qF &-&^u Athyreosis5, *p.0ZoKRadiation proctitis  % / ^h/91a%XHennekam syndrome3UV<BQqyS`- URy&L(F+=.60Pu!Keratoderma hereditarium mutilans,m<=_ $) &/l b.Autosomal recessive spastic paraplegia type 15' vD3%,0 a J [ mJp# / w*x5Classic galactosemia67del04w]~   ) ^ Aj #+Z,.0[0Nv@v{uwaZ=AHypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome/ e-%Trichorhinophalangeal syndrome type 1EW[ Z qo&'A)S)+=,M.^Autosomal recessive amelia .%[/" &T&c(gEdinburgh malformation syndrome[q@kH-r |x$VVCTEMPI syndromeMkmz BH.00_P Rothmund-Thomson syndrome type 1@5^Sou{t m o , - / s+j %&K&L'A*1Nz`? l s>46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 7E# : > 0 Q j " "(] !Isolated humero-radial synostosis 7d` x %%Polyendocrine-polyneuropathy syndrome,)4< &ZX""#"). vve5 DEND syndromeW,  |o"&f&,NYIMultiple sulfatase deficiency?>'k H >'K,( 9Camptodactyly-arthropathy-coxa-vara-pericarditis syndromebu,6 zdK!"l/FMicroform holoprosencephaly#>hBYd5gPVd3 Z | " &H&)*4ww X small rings(<W}'f]or 8qS &X&`*p*.1>2Multiple pterygium-malignant hyperthermia syndrome?. %*DTWfYMK 0. Z od $&/),&.0R0pd^ "Cardiospondylocarpofacial syndrome bu  3Linear verrucous nevus syndromeMd[Gd Z \ |%x'A0%tDiastrophic dysplasia@%<Q[fmPy]fik<- Z ) z q*W "$$%&&-&*.X9Bullous lichen planusu b 3Dysferlin-related limb-girdle muscular dystrophy R2#h + k"`"##"#%#V-1xuc Yunis-Varon syndromeZ/6; <BK[\mqy8F6)]_dfh'.0,[ e569 !""$&1&'3'S'v'{))*+5,02 x`R.Ankylosing vertebral hyperostosis with tylosis [/X-linked complicated corpus callosum dysgenesis),WMicrocephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeM/AB!-.S8ofG!(*40NF,Autosomal dominant spondylocostal dysostosis F Z ^ (Bw6qVariegate porphyria0 6 0,Cpzqo # V ^ [ Z  #%((,[./0,0[1Ny[ e iAlazami syndrome;BEq0_ 8 Z ")'*p+/01?;Isolated absence of upper arm and forearm with hand presenth[( &U(-SgDysbetalipoproteinemia35<Zuk K 4 E OV=*z0mcz:] Fucosidosism5'=Zh X *p+, ~Childhood absence epilepsy0 E C1j:)***`++0v zf%Distal 16p11.2 microdeletion syndromeLM]h&,,'e j,W01NwRing chromosome 13 syndrome*/06><B[f@ <  \ q'%&*p,%/uP Essential thrombocythemiazPdf   / IDH.c.0Zv#z}3 .Autosomal recessive spastic paraplegia type 111"0H 2 Q Z u m, #_acvx|:OCardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome BQ[qyfbjrv <-|Axenfeld-Rieger syndrome/<GmQs`.u+.wz$Vitamin K antagonist embryofetopathy<m- |x !g&)wFOXP1 Syndrome<Mw/<EV35[-[, & 1 |j!":#*p+./.0i0cuoBHAutosomal recessive congenital cerebellar ataxia due to GRID2 deficiency  w0Cs"Oral submucous fibrosisX[/i ANE syndrome,78<  tP9 5%)-vyb6Mazabraud syndrome \ ] )X.< Bilateral frontal polymicrogyria  1h p Neuhauser-Eichner-Opitz syndromef M )!e+X-linked dominant chondrodysplasia punctata.~<Dqy8[=( t| "))c^H HAorto-ventricular tunnelcv 80-ku|G$,PLIN1-related familial partial lipodystrophy6Jlmsuk -3##96,Congenital dyserythropoietic anemia type IIIUo X ^ |_, .s/b0Zablc u*Dihydropyrimidine dehydrogenase deficiency7<!P0@C  1 E ` F/""&*Y++,P/_0xxr&Autosomal recessive cutis laxa type 2A3WmP(4F^fd   H P c XzElM"*,P,a G 5Nail-patella-like renal diseaseS]6 [D-glyceric aciduriam8j $ `",P0[01x=`},Autosomal dominant spastic paraplegia type 8 C vy f B Jl#Yl Kyphomelic dysplasia[`k l W(B)A0Ps ##Autosomal dominant Robinow syndromeP$'/;<@<BW[fmqFP}0i< Z q y | qo " #(9)*7+=+.2id $Primary Fanconi renotubular syndromeu, df ] c T ]  6 M >.061>1Niq-Autosomal recessive frontotemporal pachygyria <5# Young-onset Parkinson disease"'49C]|  B90,01bu>s4fAvian influenza)cQZ`*.2;A O > ^  +/S0Z001b[c[c_z z Chromomycosis!I(  , , ,F0ccccy%|bIK Pachydermoperiostosis)M%0Y`jo Z ] .*)-)*M*,b wX 0Odontomatosis-aortae esophagus stenosis syndromew =+<2wi6tGriscelli syndrome type 1  2,dWCerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ,4 Qazi-Markouizos syndrome!<  1 5",P0 @M0X-linked intellectual disability, Cantagrel type1B5'@GH |*4,PMIntellectual disability-hypoplastic corpus callosum-preauricular tag syndrome[\H[G |*p*wFPulmonary blastoma  .9A1 C syndrome6U?W[fF]`.[ |qF!(N()*wp!:@Mutilating hereditary sensory neuropathy with spastic paraplegiaC^_y > Q g ml&f0, j(Primary hepatic neuroendocrine carcinoma$ .  P ^ H n)01rcuux= +Spinocerebellar ataxia-dysmorphism syndrome Qff  | 0n{Hughes-Stovin syndrome,.9 IHI)0Z1H`Syndromic diarrhea4Yq<Q 5prs[]_dko{`f  D CiY&++q+,.eabDuhj6KOculocutaneous albinism type 4e0S2F,dc=HAngelman syndromeG/!3189@HKUXw  1 8  Z]Cbf2"(*8*C*p+,P,.01`_l8 PUpington disease % *)\uVz.Autosomal recessive spastic paraplegia type 5AO%  Z J*#,-Silver-Russell syndrome5 /OE[fqP:WTVZ< 8 Z ql """*+.D.0|5Menkes disease7 %*[0,fz H 9 U W "(N0ZLMuscle-eye-brain disease!PHw 1 ~ kFamilial cold urticariaY *0Z0jSd.Subcutaneous panniculitis-like T-cell lymphoma   /|0Z0b7cv ji>]X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome?/ /4?QWq!A7)@A]_ E Z _ q?v*""$*B*p/2 {/FHeart-hand syndrome type 2ykr e%&S&'<'?-w:Focal myositis,`  A!46,XY complete gonadal dysgenesis%," bAdrenomyodystrophyOu ~  ,Ps7AShort ulna-dysmorphism-hypotonia-intellectual disability syndrome<QW[q & ]!g&*puWyburn-Mason syndromeDhm<>Z 92u, 3MvFADD-related immunodeficiencys] Guiu )Hereditary pulmonary alveolar proteinosisq+2 C*|.01c/uixny5/9B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeSW[fq!P3'MSfib)+-2 8 Z [ | Vj.cWz!"g"%)O))./?0N1wRing chromosome 22 syndrome! %3>+ 3 HS*8.02 |PMale infertility with azoospermia or oligozoospermia due to single gene mutationvE!"..i]%Focal facial dermal dysplasia type II qyh&,H_Renal coloboma syndromeLSYnm!LEf~"Acrofacial dysostosis, Weyers type q & )= w`Autosomal dominant cutis laxa;zEQqDf.cu{\1> U Z u Nie*Gb"))+..0*bOF7 Acrodysplasia scoliosis Z ^r"Large congenital melanocytic nevus" 0(J/1L,Scalp defects-postaxial polydactyly syndromeR$@)FOXG1 syndrome due to 14q12 microdeletion/?E@ H Z |o& *4*p.lN.Crouzon syndrome-acanthosis nigricans syndrome<G\-  Progressive non-fluent aphasiaa 2 > M { A))+1rvvLafora disease#  8w4IKU 8 ? P fq*C+0c z~`8eNodular neuronal heterotopia 1f Deafness-craniofacial syndromeBDFk(90Benign hereditary chorea KMetaphyseal dysostosis-intellectual disability-conductive deafness syndromef 4 y "& &Pili bifurcati;),\Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome0/<BQ[Fau}f I 8 "B"&l)*p.00(X-linked creatine transporter deficiency*4f.  #/QWBPhosphoserine aminotransferase deficiency, infantile/juvenile form(<T[(8;CSj X 1B,"#f&+Y+,,/001v` p4,IgG4-related dacryoadenitis and sialadenitis!;KjuI Q Pj6q(.(/,.0Z}~,&;Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome,D7> \ s 0"x,CIDEC-related familial partial lipodystrophy?luk 3##9#w +Tetraamelia-multiple malformations syndrome[8d@5 /5!g#&B Diprosopus ny Hyperkalemic periodic paralysisU#[c-i L / T V ~ I /"-jͫSHOX-related short stature[ Z ) V&X&]@Bullous impetigo * g2Autosomal dominant epilepsy with auditory features - ? M"=+++0,|ftKReticular dysgenesism RZo N) jSwDistal deletion 12qL6LVq~?W[q3 Kkw)5 M qS( !3!A!g"B$&&'G*B+=,0P1Y[Transcobalamin deficiency QST` " /X>Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency!3,f u ~ <N0Ta=WHydatidiform moleDoEpisodic ataxia type 1n02|   B k Z B U#uczMueller-Weiss syndromeYk) )*/Bbx}6V=QAcute myelomonocytic leukemia  QXdo. =Severe congenital hypochromic anemia with ringed sideroblasts5N`ho ^ |/f0Z00az O.Fibular aplasia-complex brachydactyly syndrome`  *\  High altitude pulmonary edemaq.9  8 011xnz} `nOvarian fibrothecoma  - d!)zuu} O=Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Y X. I#Pulmonary capillary hemangiomatosis.9 ;B)/w0bb[b\cLxxqO Papilloma of choroid plexus  h1_ V`0Autism spectrum disorder due to AUTS2 deficiency7<B[qF 0C[_ Z (j":"#%01b\MATTRV30M amyloidosisp"fh -//0,T0,Congenital bilateral absence of vas deferensz ./2Id 2p15p16.1 microdeletion syndromeMb~?TUW\mqEa )AKu{0<G G & 1 Z oj").QaEarly-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome8 <[F,4@M^H & E H L / Z > lZ "*B,.0Q66Woolly hair nevus :Ln&,e,{5)Dowling-Degos disease Y #)r,Z27Nicudvvz=z{% e hs+Holoprosencephaly-craniosynostosis syndromeDFYMPS q q!&1  KID syndrome<<eI(Y-  q , Nf !"T"&f+,j,.S12,abd vnxwz}k( T c d|PPermanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeEKqaY)bLaryngotracheoesophageal cleft AHO. S "/(C1xzyuBangstad syndrome#T5<J 1 . +>AFamilial dysfibrinogenemiadH2"Benign familial infantile epilepsy8IU D P*B+++++'7w+Maternal uniparental disomy of chromosome 9D[q!S  %.HT-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaX`* !"#)/SzQS9Hereditary palmoplantar keratoderma, Gamborg-Nielsen type`5`Mal de débarquementn ]| 0ZxjY(R MORM syndrome6M,Q & *pm EExternal auditory canal atresia-vertical talus-hypertelorism syndrome<mq,)Macrocephaly-developmental delay syndrome/4Sq*]+xO|l(,Congenital fiber-type disproportion myopathy;[Z#[^I[p  & 8 u Z > < ,`B#,#C,..B..0Z001uvoLCOG2-CDG  9 l*B*U.0zƓ20q11.2 microdeletion syndrome<B\mV\ .0aSU P Sclerosteosisbn &n)*>Non-progressive cerebellar ataxia with intellectual disability%3W')D H 2 X+;+0ci M5Umbilical cord ulceration-intestinal atresia syndrome ]o+\m Osteochondritis dissecansW`afjk  p#Z*.C: OSLAM syndromeR m q4c PreeclampsiaMS]6Q 8 ^ ER31Nz+A: mSprengel deformity "Pelizaeus-Merzbacher disease Om4kV-Hw H / Z &fS0POMT1-related limb-girdle muscular dystrophy R11 'f.2 Z z ~ < ? gtu#**1yCLiddle syndrome Sp6, M T-0ZrEarly myoclonic encephalopathy8CK 1 +++.0 o 7Pelvic dysplasia-arthrogryposis of lower limbs syndrome P`  "*x-,Metaphyseal chondrodysplasia, Rosenberg typeH Ree(Complete androgen insensitivity syndromeb7% !!"*$.2Xb.uvy~zxG!Infantile nephropathic cystinosis|Ded T n  % ' 6 6t  Congenital aortic valve stenosismr ;*8*1x1auxPAntiphospholipid syndrome']6Vfru{Q,\ DH 0Z0NNbcL~x$12345lmtuAdenohypophysitis n"fghg V V ,3   0 5--01uBrjCLAPO syndromebD ; 1z!tATELO2-related intellectual disability-neurodevelopmental disorder4Q4<mFP@f/.5] qTC!A"L"(8*p,P,.NMux` wPGlycogen storage disease with severe cardiomyopathy due to glycogenin deficiencyf  ;  #?#C*x--//zWNPWGranulomatous slack skin y. i */uenm$Hurler-Scheie syndrome`fv \ X X0`t(MODYMkpw9? "  < ?.cxJX4Pulmonary atresia-intact ventricular septum syndromeVkG&H>fMicrocephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome21'@_QHIK & 1 Z u"*V*p+,,X,,000NQ`l 5Radioulnar synostosis-microcephaly-scoliosis syndrome >V Z q5&S_Trichinellosis*h)=KZ ,Z  2 M i b&)bx Zl(Autosomal dominant Kenny-Caffey syndrome<=ToW Y JrF ""+v| (Metaphyseal chondrodysplasia, Spahr typei Z * W WApert syndrome;w/<DGQJ63S-G  t ^-X "%,(,t.0P2w^ TwInfantile dystonia-parkinsonismR4@  G X")9.Q!Spinocerebellar ataxia type 15/16C ) *u_JqGKeratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome1q44 microdeletion syndrome!LU<?[\FG  ZFoV*pw=Mosaic trisomy 8*Lb~ <[my`M & Z ^q/+"& wc+Hereditary continuous muscle fiber activity F e} WAGR syndrome>[l ZuPure mitochondrial myopathy!N 7 ( Z z ? B Dku#<#VuuuAlBrachydactyly type A2q|$%`'6n Isolated cleft lip0$#,z GShort stature-brachydactyly-obesity-global developmental delay syndrome-LY<WMPl2T0A & Q")'*p+.0P0|d&Pituitary dermoid and epidermoid cysts>fgl]  )*,--0xS7.Myelodysplastic neoplasm with increased blasts=Qd ] ;)*|*/T/h/t/v0Zay;0Ataxia-deafness-intellectual disability syndrome#fGHw Z p5PMM2-CDGV,[]d/<Wy!5FJMWf()fsg2z A ^ m  r""#&f(+,.B.R../002Ruwz./ Myopathic Ehlers-Danlos syndrome1[!P"'[fA Z  udB "L%)*nbucvo|}B<X-linked retinal dysplasia%nc57'Isobutyryl-CoA dehydrogenase deficiency jl ,N1Graft versus host disease)yYq*A X ^ S "N/C#((+s/|yzz i  nT&16p11.2p12.2 microduplication syndrome/!4 jy1Familial scaphocephaly syndrome, McGillivray type /<\FG'K*7.1Metachromatic leukodystrophy, late infantile form$: ,4  7 C H o j t H!"0aucuz~Progressive supranuclear palsy ]o49H{|  2 M 0fGIchthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome@ O0b|   "")0L0Zc>uBu* +^=Autosomal recessive generalized epidermolysis bullosa simplex 3  z i INUT midline carcinoma u h , /n//~|/8q12 microduplication syndromeLW} ]_ j&o 3Familial peripheral male-limited precocious puberty (5b:%; ju Matthew-Wood syndromeLUYq8()c@wh,Brachydactyly-elbow wrist dysplasia syndrome k qe&hl,Spondyloepimetaphyseal dysplasia, Irapa typeW` [ ) *""&`'A)maPosterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome Da "*p01b v]`Ileal neuroendocrine tumor~wj c  7 ^ H LB(-0.0bcRuu;Alopecia-epilepsy-pyorrhea-intellectual disability syndromem 1 2i yWeill-Marchesani syndrome<0;`]jru&2*wp 8Myalgia-eosinophilia syndrome associated with tryptophan 0Y`X`7 ]mJuvenile hyaline fibromatosisk; + b j`?(((/2=v2t +Genetic transient congenital hypothyroidismU.O mf G,.cyy{ QWhite matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome<[CGH0r!.Autosomal recessive spastic paraplegia type 69 m H J l0Variant ABeta2M amyloidosis} %|(.../!//00,1N1xaxrxtxwx{zQlSyndactyly type 2 &1<qS&-a`Xeroderma pigmentosum variant e o , -i5-Pyruvate dehydrogenase phosphatase deficiency 'g p 8 @ ",NB4,PPARG-related familial partial lipodystrophy$$36?Welrucgek = ~ 3{!&H/4p|,Autosomal dominant spastic paraplegia type 6  ~ [ "`) ^ Megalencephaly(5  3_ )Toxic epidermal necrolysis'S<emem QSo+27  ^*0Z11z T jy"Dermatoosteolysis, Kirghizian type= Z   jk~Glucose-galactose malabsorptionS  +uTk<$Juvenile nasopharyngeal angiofibroma /vw Oligodontia`R+++-+0+F+0O#Hypertrichosis lanuginosa congenitam>bECongenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency)!/0667EZ T  B   ( B!"(-.yby~J~jz6} zCorneodermatoosseous syndromeme0kV */cM.CX-linked epilepsy-learning disabilities-behavior disorders syndrome07Machado-Joseph disease type 3& No4CE  2 8 > ^ B HX". 7Autosomal recessive ataxia due to ubiquinone deficiencym489CDg & H 8 uXX11lIsolated tibial hemimelia!/>mi/09 q y{h< %T'5';():/0buPPseudoxanthoma elasticum*y!=P56%)NfbmP| 9 = Z0w3GESIN3-related intellectual disability syndrome due to a point mutationmfG Mu};Bv"3-methylglutaconic aciduria type 4mfQ 8 2msEGlycogen storage disease due to muscle phosphofructokinase deficiency,oe #[d"MYH9-related diseaseS]p{znq ^ 6 H.eRamos-Arroyo syndrome.5<WCFl_k2 ;C,!"&(:*+p+,/{0,002w Isolated posterior meningocele%C`  G [ / nbJ!)6c5|Hereditary geniospasm00-MM0X-linked intellectual disability, Stevenson typeby>) & )5&* *4*p.~.Autosomal recessive spastic paraplegia type 44   e .2`|QMethanol poisoningKjn6 >zz # Z/`xz|+Ԧ6p22 microdeletion syndromeN~mqY.k1_uZ &Isolated humero-radio-ulnar synostosis E %*~s"SIX2-related frontonasal dysplasia<\f Mv#(3,B} !White forelock with malformations <f!Pf_& qw,Kleefstra syndrome due to 9q34 microdeletion7#LS<m03dr{GHIU 8 M |]" )!*8+Y../}PeIsolated congenital alacrima  e4& TSVisceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndromeQWqA %*JStevens-Johnson syndrome'Sememz QRo+.7 ^*0Z11u@ Td G$Autoimmune polyendocrinopathy type 2 4=h< 0  '+|5Zellweger-like syndrome without peroxisomal anomalies*3\F<*pu|L5Hypoinsulinemic hypoglycemia and body hemihypertrophy -}x\FEncephalitis lethargicae9~ 8 / C j Mb&#)1bc_4p,Brachydactyly-preaxial hallux varus syndrome [>'A),(@&(Palmoplantar keratoderma, Nagashima typen4,Solitary rectal ulcer syndromeo 0f001aa%}!Spinocerebellar ataxia type 19/22ZCFX| B \\4V lFacial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion.%fm!7')[]jkoG 8 0 |j*0+.01$Spinocerebellar ataxia with epilepsyU489g ( ~  >0Y1dzpVRFT1-CDGmd H a r.x!FGFR2-related bent bone dysplasia<[dq~7 gXeb!(+.uZvig +Congenital amegakaryocytic thrombocytopenia Qo Z .~? (#Persistent Müllerian duct syndrome%Campomelic dysplasia&%>~<[mqnA-G Z 8W|!"u*0Pw{ECongenital factor II deficiencydoz [=.l.r.s/0uuu:#Knobloch syndromeL!<`;Rf;ks%].uU>Intellectual disability-seizures-macrocephaly-obesity syndrome27<[fm>Au% bX rqR+1_?#Cerebral arteriovenous malformation32Agnathia-holoprosencephaly-situs inversus syndromef P2" &&&,z720q13.33 microdeletion syndrome+/)<?EUfF_ 5&0012:oNiemann-Pick disease type CQm0489pwR   (-AUw  ( 7 8 ? H o > CHX"=(N+Z,,,..0ub 3C syndrome@/~ <I[q7dC]_adjr Gw  Z y | -'5" ""mSpastic paraplegia type 2,C` / y!11p15.4 microduplication syndrome?Wf +V0e^EComplex regional pain syndrome   &#))**R00q!Iridocorneal endothelial syndromeAL6&,,,,-/bc Leukocyte adhesion deficiency4 c9-dfm *>   XK #&=+c+f..Nwclw~~.CF 0 N syndrome /!0TYEctodermal dysplasia-intellectual disability-central nervous system malformation syndrome'<q5<G |" "))*p*UCaroli syndrome#Mqrw~QZd 4 X \ ^ S + b7uu}j! _&Nasopalpebral lipoma-coloboma syndrome <GQ]qz8AM q"&wxy-FqtTakenouchi-Kosaki syndromeG/wz~<?BUWfmAF2@[[k5QG Z (y""%*4+..e0auB IdArginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome[7` & &N)+=WEpidermolysis bullosa acquisita 3 ; &9B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome%3[fjr \ Q-#)£1Thiamine-responsive megaloblastic anemia syndrome,<3]_cQa IKufor-Rakeb syndrome,R] 8H ? [ y / X# )9,0Zc;y 4Activated PI3K-delta syndromemY*> i *+e+f.1{{} Xlc,Spondyloepiphyseal dysplasia, Kimberley type _ *(Bn6Epiphyseal stippling-osteoclastic hyperplasia syndrome Yk { YTW).I>P* GMS syndrome q.V-s<"o Pseudohypoparathyroidism type 1B$%78Ty. U Y ] B I ED #*,/4pt~ Spontaneous periodic hypothermia9 8 -0ZoDGlycogen storage disease due to glycogen branching enzyme deficiency [rwcl-2 ^  ~ =,Z/zc@;Well-differentiated liposarcoma /xmPrimary hyperoxaluria type 1 y%o = W+ /AvFetal iodine syndrome51Rubinstein-Taybi syndromeBw<[mqCMfi[_-2  qoj"&h'K)')B+O,(vwyoD+Obesity due to congenital leptin deficiency/?Jk  >+  5""})Adult acute respiratory distress syndrome*.A 7 I >+m+n00x?z)O+Early-onset generalized limb-onset dystoniaH l5,Congenital bile acid synthesis defect type 3 rtw F X S||``/,Panniculitis-induced localized lipodystrophy =)*+s ] dc Isolated radio-ulnar synostosis ^  (xrxtLMonomelic amyotrophy ,9 L ^  > QMarburg hemorrhagic feverJS* Yq~QZ`d  7 T ^  8 Z=)+++b+.x/i0Ngab7u5uxzz)}+}BB_ Tetraploidy~B[  dF/x!)p% De Barsy syndromeA<qP(C^K]k\  U 1!!""#&)*+0bOw M DX-linked intellectual disability-cubitus valgus-dysmorphism syndromeB & [ZAplasia cutis congenita !R w(=)* jOXb"Aquagenic palmoplantar keratoderma  1uazz9 c""Alpha-mannosidosis, infantile formX )/<Q! 06Sfku{T*H    C w | ) ~UL"u#f()*+,F.B/}0P0[c>y78-Hemihyperplasia-multiple lipomatosis syndrome"i % @ Z k!g)2WI3'Ectodermal dysplasia-blindness syndromem8jIkw jcHypoplasminogenemiar& +u$81Sporadic pheochromocytoma/secreting paraganglioma$]`-G 9>ERc    P l 0  7Q\!)$-.0Zbz4Adams-Oliver syndrome.8!Rr<Vdi QZ[$,T 1 4 G:&)*Ff1Leukoencephalopathy with calcifications and cysts49>W 0 =X{)P+ 8Megalencephaly-severe kyphoscoliosis-overgrowth syndrome66)/<EfFJ)6@K`f )GH  z$*p*++,B1W&$Acute zonal occult outer retinopathy!<?D[bncm*n- 0Yw#wwwxB yo'Recessive mitochondrial ataxia syndromeZh  c f > &f///~ *Rhizomelic dysplasia, Patterson-Lowry type/ ) | 7"'A0Py R7X-linked intellectual disability-plagiocephaly syndromeM~ & ]Xq*p+K Pyomyositis Sm  F&&Hereditary neurocutaneous malformationYAneurysm of sinus of Valsalva c{.!-}1uVAutosomal agammaglobulinemia<yY-S> P/S0Z12 k9]Treacher-Collins syndromeD.&<G[dfr18dq Bk$- M  \EfR!g" "%R&C&L)*7+,z,.wq%Congenital stationary night blindness!'0vywwww{yIFamilial isolated hypoparathyroidism due to agenesis of parathyroid glandf U Y e  ["!#Episodic ataxia with slurred speech ,9F| k1 JTHOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, /6MUwz3?Q\m0[_k5G uM &%&(**p-g-0^0a0uq-Vitamin B12-responsive methylmalonic acidemia So-v.Corpus callosum agenesis-neuronopathy syndrome!S 1 j'Cerebellar ataxia-hypogonadism syndrome,`w qE>-Hallux varus-preaxial polysyndactyly syndrome<qd!Non-functioning pituitary adenoma:,5j"8>ENZ_dfgi]  7 M h <c 0 5#!*,b---./ /0Y0Z0uBuw5w9y56vGriscelli syndrome type 32S"RAlport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndromeS]m!;kn []*p+=0kRenal dysplasia FHLS[i~62ro!*+z0 0*1141Nu{ { -Chronic thromboembolic pulmonary hypertension%cO, A h ;  *)(+-.}/r/0Z0bwxy{aPituitary carcinomamMfi Ro3 c),----0Y0G#Marie Unna hereditary hypotrichosis< 5AHypoxanthine guanine phosphoribosyltransferase partial deficiencySp4Ce M 1+ Trisomy 1q*.>~4<dqY)]k)G !(B*?Spastic paraplegia-severe developmental delay-epilepsy syndrome&<!,4  K Z l "'+,1byo4,Congenital bile acid synthesis defect type 4D909 2 a 3 ^ Z.t0[w4 a_Distal myotilinopathyKf m#g#q&fvbUveal melanoma<J!.*,-//0xBxP Z(Q6q terminal deletion syndrome1/ !&<[f)Mf\N Z o8"+01u`uZL:Camptodactyly-tall stature-scoliosis-hearing loss syndromem Z{$Familial exudative vitreoretinopathym8ju],N/1w w'w{&q*}Bloom syndromeC [*3W* h i k " / > ,nAf ""+f,./^0`0c1Ndyz}}ZProgressive hemifacial atrophy D[L pkRenal hypoplasia ELS[]z}~6V(+/1Nu7Ogden syndrome)"4Uq ] G : Z ?"&'G*3-buC Thiemann disease, familial form`**m Tricho-dento-osseous syndrome =U%*,bvhx&S7{Björnstad syndrome<Wolcott-Rallison syndrome(S5Y,p_Sc \ ^ V X ^ . 1NBa+X-linked intellectual disability, Najm type.<QW[!a)4@H & 8 Z | """+Y,P/N/14 Y PAPA syndrome]%Y` )0Z1i+ g ji g=X-linked spasticity-intellectual disability-epilepsy syndromeU uFeingold syndrome[yk q$1XAlopecia antibody deficiency w +AZLHypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndromex5<  /FHSteroid-responsive encephalopathy associated with autoimmune thyroiditis5Uh QU V g#0, gOrofaciodigital syndrome type 5 <d& Z (9(*0+=1 qJuvenile polyposis syndrome4<Kqo,  h  N &6M*-//^/0uav0' s6Autosomal dominant Charcot-Marie-Tooth disease type 2WDv  0 n Z""#]0ucv('Acromesomelic dysplasia, Maroteaux type fk Z  W +X$Extracranial carotid artery aneurysm36IZ M = I J M (/90{|}~wMonosomy 13q34#<Q[fkWuj& =*+--}p $Microcephaly-cardiomyopathy syndromeTd]l<G qr7Multiple epiphyseal dysplasia due to collagen 9 anomaly, ) ~ %j*.#&b))1xwx`^(Benign paroxysmal torticollis of infancy    2Incontinentia pigmentiCl*8=P;<=c X,H O M Z "Rj ** j kv!.Autosomal recessive spastic paraplegia type 66) v l*u`-Morgagni-Stewart-Morel syndrome23456%DHe   ) 2 4V0{e}jNevus comedonicus syndrome; n Z )Fb}Idiopathic pulmonary fibrosis'> ; (0Z1bWb[c.xn{|~UWj6UPseudopseudohypoparathyroidism7T$%'<'?).av6Autosomal dominant otospondylomegaepiphyseal dysplasia W[  Mandibuloacral dysplasia"%[?JW~B< Nk 43"#!#+&o,Fx=xYL $Ptosis-vocal cord paralysis syndromeAKV Congenital Gerbode defect,]cj,.  90<!)-0Z0^0nwxnxz{{^Acropectorovertebral dysplasia  n  &,(Hereditary fructose intoleranceS-de f /11NfMevalonic aciduria EfPH wCTemple syndrome due to maternal uniparental disomy of chromosome 14#%B[:fV Z 4(b"+.u wk6Localized dystrophic epidermolysis bullosa, acral form  1 &S*cyEgZUAmelogenesis imperfecta`#(;+?+A+L+Mb$xGRLichen planus pemphigoides =o.6u e?Alport syndrome&S\]ad{`6.  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[  DOH)./0Z0i1#1+101NtdMChronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis%Y o I Z ] ,X*+0Z&Hypomandibular faciocranial dysostosisqFLS_k |?"-(7.Unilateral polymicrogyria%5 78[8U P u bp!"*B,P0e01j`+Idiopathic non-lupus full-house nephropathyS]cd6Y [ O-1 aOIntellectual disability-obesity-brain malformations-facial dysmorphism syndrome7<UyS)HK q&*p+0?Ossification anomalies-psychomotor developmental delay syndrome$<E[\Js @4G ^   >"$&&.Iy2Autosomal recessive ataxia due to PEX10 deficiencyC ZZHX\*,FSeptopreoptic holoprosencephaly:>_ 0K  r ,/N1j|fpo0Arrhinia-choanal atresia-microphthalmia syndrome ,<8x8&L&.{AchondrogenesisW[ \ |  /(B0PwMEPAN syndrome,48   z ../1by}4M/Psoriasis-related juvenile idiopathic arthritis*FMY`  M*+n/Z0bcyrysyNi,Autosomal recessive hypophosphatemic rickets"uS \ ] % X0?")*+/x%?NW-Iatrogenic botulism ,.,0Z DMicrocephaly-seizures-intellectual disability-heart disease syndrome65Su]_k,2 e"WL+Facial onset sensory and motor neuronopathy, L B IT Chronic myeloid leukemia OQfwx,0Zc&i?Hyperlipidemia due to hepatic triacylglycerol lipase deficiencyk=/m9Cerebellar hypoplasia-tapetoretinal degeneration syndrome )u DDOST-CDG5@ 9uw ^ e:#111APHACE syndrome";8ad5L)[d h 8u#o FX-linked intellectual disability-dysmorphism-cerebral atrophy syndrome<\qJ  q)*+8S9Cheilitis glandularis h ,(.*JCoxoauricular syndrome m T  !gu*Multiple system atrophy, parkinsonian type|~   7 >X!(C)(0,1r1~u?x^_Spinal cord injury   D )50,00q=Microcephalic primordial dwarfism-insulin resistance syndrome [?uk ")|RAphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome#.0;@%f,>}B r"5#%A%'R'*p,(.0>Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeU8lg 2 c  j u%!1bz:Moebius syndrome*,*[mZH q8e"%&&L(7) TVentricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome&]' 8&'<'-LWormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia  <u`G U &`+pG'Hereditary late-onset Parkinson disease"R4 H{|  7 8 : ? B9>0z4f!17p11.2 microduplication syndrome#<EQ[fmX 1 M Z dRbj!3)!)'*7+Zw qhParoxysmal hemicraniaeh36 &+0`0bxqxz4zFrontofacionasal dysplasia<Q8Ed|@t$ |$|.*Methylmalonic acidemia with homocystinuria.0Zw\uIndomethacin embryofetopathy S[pV]_f-(Homozygous familial hypercholesterolemia!6rumuz.  4 E@Vc*9=%!*z0U0m1^ux-96;X-linked lymphoproliferative disease due to XIAP deficiencyS{*YwT  m/S/uz<{ec-Autosomal dominant spastic paraplegia type 41 C  ul*vW3Exostoses-anetodermia-brachydactyly type E syndrome 1 #Late-onset isolated ACTH deficiency(=h, Xie  0 7 M V h > +~--/S0Z'+y LAMicrocephalic osteodysplastic primordial dwarfism types I and IIIJHMO~  T[fq0<V.IU > d u q"r&h&l&(*+Y,0Md!Ectrodactyly-polydactyly syndrome&-XUHemoglobin E disease V*.~.N[a}WAchalasia-microcephaly syndrome /[ 5bDCongenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (=>6:Z%<z T R  ,!(J0{0|c$ckuvy~J_6xPemphigus erythematosus V,[bcv{4 iW&X-linked Ehlers-Danlos syndrome fwT ,Renal caliceal diverticuli-deafness syndromeHMO~*B MeningiomaJ,hZj"f+=%>w 2 h Z 8x#  - 0 5)&)*L*+},---//01r1vvw9wDwx.x(5E Stimmler syndrome  Z*pd'- 8 q V./1^suBehçet diseaseUScej%I CYeuz{ 69A  2 H O I M N I DHX*+c+/Y/0Z1i2c-. b g= )G'Camptobrachydactyly $%[4W L1 syndromeC j `AProgressive external ophthalmoplegia-myopathy-emaciation syndromeN/KRl. > ~ < t, -voM\wRichards-Rundle syndrome  m/Ck gmuOCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyl /67>LOzkqy+67rS[`a .[  Z R | 'W*   ( !%& 'A*n*,&,...0acuvyYybyky|yyyy~j=DParaneoplastic pemphigus/ i Hydrops fetalisMO[O \ h+-u5wy}$vJ"Early-onset X-linked optic atrophy'[ /1^.Severe early-childhood-onset retinal dystrophy!!"&'AenO\| *9kq:,N,,/00Anaplastic thyroid carcinomaUEIR .29  j(C)~..01,NHyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency$D9 'ugly} - ^ a 8  ["&f/'x=xLVh1Very long chain acyl-CoA dehydrogenase deficiency( ]_lqwy*2 < U ^  B"#U+s-.0cx=x1Combined oxidative phosphorylation defect type 3941%),@C~   g  1 u Z B q,";"#f,P,,0[0ucx|E_Galactosialidosis m \ )dSpinocerebellar ataxia type 43; \ x ; m"#C#]0 /aNon-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy&]|D go H ;  % 8 DX!uc CK syndrome"4fF fN 8 M z)c>"#14q24.1q24.3 microdeletion syndromeV<?Wf[]_|  |G&2. 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Z)*.0nz82 i j zL!Oculoauriculofrontonasal syndrome!<D[|t]$ Z!g)qA&.Primary angiitis of the central nervous systemnz   M Q D)&/b6cpw|"Oculocerebrorenal syndrome of LowexS[]y%/W[f-8Fgx7K[i'YfjkHQo-Gdfgy 1 M Z ) T V 4 ]*jY3"&L(*7-l j14q11.2 microdeletion syndrome<QTW[fE]kG |,P]:Diaphragmatic defect-limb deficiency-skull defect syndrome)  q\_ek 4CShort stature-valvular heart disease-characteristic facies syndromefbjv qy w51Frontotemporal dementia with motor neuron disease#]Oa{ > L Q tu !)5v&X-linked progressive cerebellar ataxiaC  7 [ Z u w H"#C VMChildhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaCXx~  u H 2Hereditary myopathy with early respiratory failure+. u"`####C1zFelty syndrome$ WY` QSo6 i &f0`2c+Neonatal severe primary hyperparathyroidism 4 n(Ollier disease:ko ] h HEm jH Worster-Drought syndrome Cw j>Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome/:l mpQMendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency *>OProgressive cone dystrophy'e5J"Self-improving collodion baby`3Brain-lung-thyroid syndrome</L4=S48]_w &,23   8 U S w > m ".u}M*-X-linked intellectual disability, Wilson type"/A ,*>*p00 19p13.12 microdeletion syndrome7/<QWqy!5:Su]_u{<GMG Z q/-lTX-linked centronuclear myopathy 'V*2 g"uuvoxzX& Severe primary trimethylaminuria "B.zzA Trisomy 18pT[yEFY'  j!).wSpinocerebellar ataxia type 8"4C| \/N'Neuronal intranuclear inclusion diseaseXZCw 1 Z  Sweet syndrome'%lo h +m+n+.y.00Nclcdvx?z~Dy d e gP`Cockayne syndrome type 3J HSYz~K",8=eIQC[f W ( 8 Z ^ > F=!&f,_-.00112~ Zimmermann-Laband syndrome+<[>+f M/"#&+=w Wolfram syndrome' OpZ37ikfo-H 8 H 7 ~"&f0,k /Macrosomia-microphthalmia-cleft palate syndrome Q8- {#_Diffuse alveolar hemorrhage"] Qo+.9A k } -01bVb[xQ#Congenital varicella syndrome 8H .Autosomal dominant optic atrophy plus syndromeN3mf ~ n toZ&f0Z0NFwJSilver-Russell syndrome due to maternal uniparental disomy of chromosome 7;/UnwEK[d8:W0T[ Z  6 Z hq,"""*+V+0|0uS 'Delayed membranous cranial ossification <F.".Autosomal recessive spastic paraplegia type 77% 48@i   H [ u B `l*!"")50wcb.Succinic semialdehyde dehydrogenase deficiency KU]54ASeizures-intellectual disability due to hydroxylysinuria syndromeK Nl*Medial condensing osteitis of the clavicleyC)+xr]4%Progressive myoclonic epilepsy type 1 8 XX 6Conductive deafness-ptosis-skeletal anomalies syndrome!E q5"E17q21.31 microdeletion syndrome{ /KLw~mEF58:'S]f<A[]_fjo8G & 1 n Z \ - N`Rj  "#&*$*p*+Z++,...00111bxwLx[Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndromeS/@Uncombable hair syndrome; ,d4Spinocerebellar ataxia with axonal neuropathy type 24]~ *   4 nXSHypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutationf -g  ""..1N3+SIntellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency4&?W[q!8EF[]& 8 E  Z Sj&l).0Y01 qNeurofaciodigitorenal syndromez /<qykM&S&h&&)+.6wB"Roch-Leri mesosomatous lipomatosisQS/Genetic hyperferritinemia without iron overload 0Zi l!Isolated polycystic liver disease&- 9 Z " S0Microcephalic primordial dwarfism, Toriello typeSG " *| (Autosomal recessive primary microcephalyLzTFCG *p5 Nanophthalmos8b!3c(Synaptic congenital myasthenic syndromes6/U,L,-2 7 u S Z ; ~ < F K l s ku`k)')0[uvvLymphangioleiomyomatosis$+.19;A t%z%%(F.L/60Z111.Autosomal recessive spastic paraplegia type 204~<q %0CFfI 8 ) m"+V+Z,0bu 9Symptomatic form of fragile X syndrome in female carriers)/1356D0fb 8 8 Z j+1bHlb Ataxia-oculomotor apraxia type 4:4| "#]&f)5#Congenital erythropoietic porphyria2j0HQVZd , I_q Z#A((, ,/d//2Nx$[ iN BX-linked intellectual disability-psychosis-macroorchidism syndrome59c X  & 8 : [ *p+c;|Muscle filaminopathyf- Z k#"&f-1bPuvvoXARhombencephalosynapsis4<fZG   |&K&()/#Ataxia-telangiectasia-like disorder"*i/ #(48f    7 n)0JY(Blepharonasofacial malformation syndrome*WmyEx0Cf.Hr&LFlynn-Aird syndrome!4k<H 1 H M = Z Z &f/ j_Friedreich ataxia5 m:3',4Rf ]  Z  + > B g b#)'*O*y//0c:u Lymphedema-distichiasis syndrome K]e3,-k ; B&&-w Tr e&Infantile spasms-broad thumbs syndrome<[gH 1,(@y$Methylcobalamin deficiency type cblE2m6pZSTsGpw  = A ZJ"&f,P.001uFGCGR-related hyperglucagonemia9 N0vwM'Fetal parvovirus syndrome gQo*{2#Acromesomelic dysplasia, Grebe typek' \ hW "%#R|?5q35 microduplication syndrome !0  Oculo-palato-cerebral syndrome+8f3   wSAntley-Bixler syndrome<WfSk[ | &)/wI ySupravalvular aortic stenosis6.-{PzBirt-Hogg-Dubé syndrome 1; 1 Q)q bSKennedy disease R / Z6t4Macrocephaly-intellectual disability-autism syndrome<u% J |}j.z} H@&dInfantile Krabbe diseaseFm<ej,8CA  2K ( 9 u > j B rP#f&f),,,.0[11avvy|tcdIsolated exencephalyqP {Z&H)-.-0v$-Autosomal dominant spastic paraplegia type 10 m & [ ; Z x I /J"# #,|I46,XY difference of sex development due to 5-alpha-reductase 2 deficiency !.03>2" /Adult-onset distal myopathy due to VCP mutation9E ( 7 L / B Z k"##-#C1FOXG1 syndrome1148@U  8 H Z V",P./001v4F ALG11-CDG(W\mC  G Z ^ X r:P@""#*c.B.0111 Fryns syndrome3/L~<QW[f8-d )GH q-5&*4,P0t Dahlberg-Borer-Newcomer syndromeSp5=0b U&O Congenital fibrinogen deficiency68qd "%+.l/2VweIPrader-Willi syndrome due to maternal uniparental disomy of chromosome 15C,.<@378:0iG & 8   Z 6 7 2""))*M-. /H/I/0{0|1jbHvy|y{l w^Ring chromosome 1 syndrome 7W q")` Schöpf-Schulz-Passarge syndrome @< o ,Kearns-Sayre syndromemDN37=>#,9f j 1NDubowitz syndromef/7~&<T[fm!8Ede8=0SfIT[0<QRo-3 8 Z h i qAj""%%& &,(1w wOXL(Erosive pustular dermatosis of the scalp;* g iQCerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy(36 >\z   0 2 M MD***0|c~E 7Deafness-small bowel diverticulosis-neuropathy syndromeXw  Cra SLC35A2-CDGJA:Sf[d0 & r Z q ~ ^ m 1 rh,!""*p+,2./090<0K0012accu[`` L::Erythroderma desquamativum*A'(Supernumerary nostril&-paImmunoglobulin A nephropathySc6r 0 [ 1+1113xn{$Giant axonal neuropathy %f Z ) x M e ju")0.Autosomal recessive spastic paraplegia type 9B,H~ C [ n ucyX3$Isolated childhood apraxia of speech0w  # $ Abg*o+Z+.0z!&L,EwqL%Mesomelic dysplasia, Savarirayan type \ 4  "W"h) Retinoblastoma*+Lu i m + -&&.n/0Tbbv{2$Familial hypocalciuric hypercalcemia  f 7 ."/0Z1A62:Localized dystrophic epidermolysis bullosa, pretibial form 3 )B,[/v e i [7Childhood-onset benign chorea with striatal involvement *ymd81Spondyloepimetaphyseal dysplasia, matrilin-3 type a z "&b0P Orofaciodigital syndrome type 212[18 {h'X"&0&b'G'T't'(9+O..+wS^ AUF Null syndrome% & > el+X1.oBarth syndromelR e  IVIC syndromemkQ Z 5&2-L9Microcephalic osteodysplastic dysplasia, Saul-Wilson type '.9 w!Pyruvate dehydrogenase deficiency#<WF49.G X"eBudd-Chiari syndromeS:r   ^ S^|v#b"#Charcot-Marie-Tooth disease type 1E'hg]v| ( x 0"##C#Y#]#%&*M*N*P,-/*0g1vvy 48,XXYY syndrome=b<DEF/9fi[38Gw Z i q]Zj"" "*72wIntermediate nemaline myopathy<WqZE[V G > )rPemphigus vulgaris  ".0vz = = gNipah virus disease892  O 7 0Z1 wWeaver syndrome*b7<QW[ffk.I< Z" "(<,(wvbDeafness-hypogonadism syndrome<}/7L d!,x,|1*Kleefstra syndrome due to a point mutation2LMNm:)M [G{ &,W.gl EBc;Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 :k""#_)e TSenior-Loken syndromeZ,6 4 )S1NCurrarino syndrome LU}-` [}!E&>&A(/0bvx} hT& Schimke immuno-osseous dysplasiaI]ap6 ,VcQS`o,U\  H M = M _ [ n z  n ( C;"P"01#11zCC |lJPfeiffer syndrome type 1<\mq j |%'K'},(,6.8LAstley-Kendall dysplasia ")aEnamel-renal syndromeSpy% 7w+A0Mz BSevere combined immunodeficiency due to complete RAG1/2 deficiencyQX`b   " ^ !M*.?zz 0Ulna hypoplasia-intellectual disability syndrome0k 0[ $'K,(o J+Mesomelic dwarfism, Reinhardt-Pfeiffer type ! $*Adult-onset nemaline myopathy[[l ~ #b)2.yGHHAtrioventricular defect-blepharophimosis-radial and anal defect syndromew[lz8EFS8  q!g%'3|u,Holoprosencephaly-caudal dysgenesis syndromeNS<qPV &)3IWAHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome-<[mq5FSfA 1 Z 6'&,.00bc|``*2Mandibuloacral dysplasia with type B lipodystrophy[7W;<N  |6G #h&o&s Stiff skin syndrome60,` /Z&f.G5 Danon diseasegl)3WoPartington syndrome 5E & 1 CZ-Ichthyosis-prematurity syndromeVX S}aOncogenic osteomalaciau+,:d ] c m  U % S u)~).G0x M/X-linked intellectual disability, Armfield type&/BQ[akH & &S*p.. w\_Hemoglobin D diseaseo.~...acujGenetic recurrent myoglobinuria S#,iw U Y ^ B D` q#%*-1c[uv8Dysplastic cortical hyperostosis, Kozlowski-Tsuruta typeO \ /&b*^Caudal duplication$IN n ^!&?<-Autosomal dominant spastic paraplegia type 12 C vy / B l**Ou>si<Cardiofaciocutaneous syndromeO~%<W\f!}.V_gjvHrw 1 Z ) |F/ "&)+1w 4Corpus callosum agenesis-abnormal genitalia syndrome/nH Z !)*p,P N+Infection-related hemolytic uremic syndrome436QV*.6i  U V X|++k+l..0Z112auax?z{|x}}`5 B4GALT1-CDG"<Wq!5)Vd ^ r =e"#f*+s0 0[Y;Congenital multicore myopathy with external ophthalmoplegia,.6  ,E[f * Z > u"#A#V)*4,.../yz$Hutchinson-Gilford progeria syndrome]2K[J6W~ `kTanruz{ ,z  : = q ; UhC= !}!"`&o&(8) **+G,Z,.8012bPbQu2xvxFG b -Megalocornea-intellectual disability syndrome)<B[!Q5fw 1 Z 4&) *U{/#Hereditary mucoepithelial dysplasiawek< 1p Carney triad6qoA j l @-0Zqs^FCongenital primary aphakia 8L?%~,R{CoccidioidomycosisLMSwmen2uYpOX*29A  I M z j ((,2,...///0Z0012@Nadd%vy}}}}q b c } 1Microcephaly-microcornea syndrome, Seemanova type8F*pNijmegen breakage syndrome1&TlF,;QVb h i + > 1j&,b//1qW-Autosomal dominant spastic paraplegia type 42 C vy l* Fixed subaortic stenosis[]chjkou{. ;j!'1xx{{}\ WX-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndromefH" (`3Lung agenesis-heart defect-thumb anomalies syndrome_kno-5G n ^<'/%&2&*+ffThomsen and Becker disease  B "#g-{:_Airway infantile hemangioma II28 8(C.1xlx@ u$Congenital pulmonary valvar stenosisB_wXq21 microdeletion syndrome$w}68>sC j: 5!",wD  3Postinfectious vasculitis9]c6'Yf *\ 9 k "!&f)*|+s+, 1iNNNb7bduxz{{{}}}} ]AInfantile systemic hyalinosis%B0k c R)+. jwDistal deletion 19pBGf>f<]))B*@~*Xq25 microduplication syndrome)/ ) & 8 r#0J_Erythema elevatum diutinum ) ] d eUnilateral focal polymicrogyria7 & 2 P bj=+[++.....}1KRT1-related diffuse nonepidermolytic keratoderma>R;*/c n6X-linked intellectual disability, Golabi-Ito-Hall typeEzF_ ,_ Subependymal nodular heterotopia": %N - ? +.*.cy}. Neurocutaneous melanocytosis70Gz  1 O h - DH!/X-linked intellectual disability, Cilliers type/P/E qX".b wbTCongenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency$!%/=(Pi 7 V B!""-/ 0|12Qc$uy6 FMarfanoid habitus-autosomal recessive intellectual disability syndrome+b !<5 sfh)r  Ar #*#,&(...I/}0P1Leigh syndromebd|\KZ,4w<]cgSoUg{  ( H o  > ] p 8 ~  > @ z "# &f,G.../X0[011111{4 B!B -Autosomal dominant spastic paraplegia type 9A" %,9uv| 2 [ y B [ X*P,0UiCongenital primary megaureter $L~ [!*rY*Aphalangy-syndactyly-microcephaly syndrome  &/&-&'3q29 microdeletion syndrome,/UBDq8fKk, |qj ,i8Papular xanthomaw cXNFamilial atrial fibrillation zs.  0ZzSpinocerebellar ataxia type 174 4 X/2QApolipoprotein A-I deficiency nZ = / =OaՅ5Polymerase proofreading-related adenomatous polyposis k/RwT zVMultiminicore myopathy  fk- Z ~ #"#%l 4Microcornea-glaucoma-absent frontal sinuses syndrome 7 0P:Severe combined immunodeficiency due to DCLRE1C deficiencyh M1#+c, y k Superficial siderosis1 FdZ_   2 7 i j I Z rHX!%w&)*M+vq~X~Lipoid proteinosis%04I .6[ b g k(Seckel syndrome[kSfi< Z qG&L)S,N4"Acquired generalized lipodystrophy]6?JWrufk i / ~{#h%x+/ 0Qr!Fetal valproate spectrum disorderW |l Autosomal recessive omodysplasiaW[fq#S   |"*w|e Lyme disease*e,Yj 2 O I&f-0Z dAtelosteogenesis type I <[q]B) Z  Y%""#&b.y'2Subacute inflammatory demyelinating polyneuropathy(,9& 7 c j x 0 g w x 4>^"`) +X/.0}AInfantile-onset generalized dyskinesia with orofacial involvement 9   7",.y.X-linked cerebral-cerebellar-coloboma syndrome<[fq7(G  ; < |=:"&.`&_Pseudoaminopterin syndrome?U <BDQ[fEZtKw5H r ZL!"& &2&&'<)*,biu[YQLinear IgA dermatosis  %% b= = lM,X-linked intellectual disability, Abidi type Tm Z" Pelvis-shoulder dysplasia)>~[ydz7  n z e g \689!!g"g"#&1d8Alar cartilages hypoplasia-coloboma-telecanthus syndrome< w;Familial hypofibrinogenemiad>*Mowat-Wilson syndrome due to monosomy 2q22")/06KLw}~/3<Bf!8d()@[[dijor78NX  1 8 / Z )>alR,bf"%&%&'G)+,5,/10a0b v8|AAr?ANK3-related intellectual disability-sleep disturbance syndrome  & 8-Majeed syndrome ]%[ A ] c [ *+s1g1 b gNY"Dissecting cellulitis of the scalp-;2D|9 Sinding-Larsen-Johansson diseasej e)xw/Silver-Russell syndrome due to a point mutation$-/0E[q5Z 3qzj""$(+v4Branchio-oculo-facial syndrome%h~ fyCFMdKwps!&L.?$Bilateral generalized polymicrogyria34KU & 8 H `,$")9*B*C*E*p++,P.011b b c|`4`l SAPHO syndrome%Y- I ] HX)~N gi Pineoblastomak= ( 2 3&*/ Leishmaniasis QTZdo ^ ).60Z0`u b c j/Vitamin B12-unresponsive methylmalonic acidemiaSfQZo-w Q d(Incessant infant ventricular tachycardia c &-{kF4=IRIDA syndrome <>c0avn|o Tetanus69q~2 /  7,[.0,b9bcQfBIsolated absence/hypoplasia of fingers excluding thumb, unilateral&2''Ae Melkersson-Rosenthal syndrome* ()+s0,3Congenital glaucoma<?COG5-CDG. 6fqWD & ) ^ X,"%*p,001SF`FArthrogryposis-oculomotor limitation-electroretinal anomalies syndromeEZk()M5Hereditary amyloidosis with primary renal involvement+#S\]dp6c o ~ ^"&f+/1/z|7eB[3Beta-thalassemia-X-linked thrombocytopenia syndromeQdo.].~C SLeukonychia totaliseZ %4Sneddon syndrome6]p6c,9ou{HZz   2 H M%&f**, -//Nbdzxx5x|f`OY[ hO(Congenital alpha2-antiplasmin deficiency dz ].l/w/7 Vici syndrome#<YO)kfH 1 8 o "./N[Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome5; C/GX '5HX*p}h%Autosomal recessive Stickler syndrome[!f ` ) *]0P}C3 glomerulopathy]d<6 -#,11Nccww*xyG mVogt-Koyanagi-Harada disease$h*enF<  Mk&,/Nbxy^QIntellectual disability-muscle weakness-short stature-facial dysmorphism syndromeKPZ,095 0 * j Tetragametic chimerism#-036>!"(**/q2=f ]Eosinophilic fasciitis'Y WX I0Z12 8Common arterial trunk$ Q[]_dhjkqv{|)5 ?Gk0-[-x-.cy&{{bBethlem muscular dystrophy&1,[f& Z z ? ktB#C#b#q'0u}JAlpha-thalassemia-intellectual disability syndrome linked to chromosome 16 /<Q[\f['w&&.0Z22q11.2 duplication syndrome(~<?[\mXK]dw Zj!&)*-[.O\Congenital diaphragmatic herniat)2 (K0w Czeizel-Losonci syndrome"O~T[fFs/) n  !!!#)+)0 bibGM1 gangliosidosisY-/Wqj0 49CkV[]cfk w H O Z \ *n&b(N),..0abf>BQ Nasu-Hakola disease`GHw 2 H \ ] *#)/1 :Satoyoshi syndrome W;  *"&N. bRing chromosome 8 syndromeE~T\r |3Spinocerebellar ataxia type 42 ;"%   * Z +11xyB cInfantile digital fibromatosis 0b d-Lethal ataxia with deafness and optic atrophyj, & g t Z w!O"&f+,0ev@}<Porokeratosis of Mibelli l/X-linked Alport syndrome-diffuse leiomyomatosis']p! . |d(()v* ,./1N11v}`*Ba  Jung syndromeN75)r  iLowry-MacLean syndrome4/NG[\q<AP?S z |W[B'!+O,Pbwh3-hydroxyisobutyric aciduria,ETW[GH 8!gv_&Autoimmune hemolytic anemia, warm typecqb ; /60Z_5'Autosomal erythropoietic protoporphyria 9r(*N5 Episodic ataxia type 4 i|   7 RL*Familial digital arthropathy-brachydactyly_&[07Ankyloblepharon filiforme adnatum-cleft palate syndrome&&/o'Allergic bronchopulmonary aspergillosis W,-139>H +~1cRiWEarly-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation08 & E u |l"#f*B*\*p+Y,/011 Roberts syndrome6(q<[y8PSV<Q  q+W!""$%%&e&&w612Recessive dystrophic epidermolysis bullosa inversaO 3o" ,[/cHz T BPeters anomaly  ?O,,yTFanconi anemiaj #/HOS <DT[lmy8F-`Cp_dgkn OQZoG n  Z h   / qyeu!(5(/ /1_1tFAutosomal recessive spinocerebellar ataxia-blindness-deafness syndromem jv * n_ Arterial tortuosity syndrome=<!3E6_0Sfi.ceglz..2 8 9 W Z q > |q?NoG#),&0Z12] %Unclassified myelodysplastic syndrome O / /t0ZuA0Encephalopathy due to sulfite oxidase deficiency%W!; H | "*p+0w#Isolated glycerol kinase deficiency#w 1 Z ~ Vi>Rosaï-Dorfman disease o I)6* b\ Renal tubular dysgenesis pr<fVd)!Spinocerebellar ataxia type 12%C  ~ ) G fbXu DDelayed speech-facial asymmetry-strabismus-ear lobe creases syndrome<DWqA &'5Autosomal recessive Emery-Dreifuss muscular dystrophy'klmk ( Z E ~ Z k#""#"#%#.ucuG;Severe phosphoribosylpyrophosphate synthetase superactivityS!Ye M  &f1Nj Hydrolethalus[fq83AV&[  8+wwJ4Thyrotoxic periodic paralysis'UD9y i e B n- ]#<-.. . ./0L1'w\)8p inverted duplication/deletion syndrome86O~7<W[P:)[ds Z dqjl"(*p+,P,f ZSézary syndrome9<7 i  &f)/uW6 Dystonia 16CR~  X0 hOliver syndrome/B>@&' Z q):X)Vocal cord and pharyngeal distal myopathyCDIKU  x .q"4zm 5Catecholaminergic polymorphic ventricular tachycardia m {%Distal 17p13.1 microdeletion syndromeEU| ]""))*b+V,OlLPfeiffer syndrome type 3$LU~<\mq`A2  j  |'K'},(. wu55Methylmalonic acidemia with homocystinuria, type cblD 0Zp2(Congenital sucrase-isomaltase deficiency / ,.H0Za5 -Microphthalmia with brain and digit anomalies!,78d`&t% m!Hurler syndrome; %m>6y`fv 8 Z \ X *X&S.0`0yk#X-linked mandibulofacial dysostosisDE[faj>&B) @46,XX difference of sex development-anorectal anomalies syndromeH~,-  e!(1Non-specific early-onset epileptic encephalopathy0\" #89 U H u j*\,.0014fۘ(IgG4-related submandibular gland diseaseMS4X OP6(.(/)./:cRc_uz1~,z ;&Brachydactylous dwarfism, Mseleni type`' ^ k ( d"&}Osteogenesis imperfectaq E[mPs>[fb{Q)Gf 8 S U W Z ] c  )   k D I  N^W"*+A,20N0Zv;v<w5_=Deafness with labyrinthine aplasia, microtia, and microdontiab3<[m !3!g)q+=,lEsophageal atresia<OhwmMV+DG]d)+2    Z p  n"/"3"&H*/0c011uwAtiGlobal developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome~ N 1 H P \"*Y+.0`" Aggressive systemic mastocytosis' QSTou 7 ] S+q0Zb6z4z|} Cryptogenic organizing pneumonia +.29; +.y0Z01b[cMuxlxnz|}}Baller-Gerold syndrome+EL~<Q[Y  Z i m |Wbe$%D}Primary peritoneal carcinoma  h 5Microcephaly-cervical spine fusion anomalies syndrome/ET[qyCw R)|0SOZechi-Ceide syndrome"/Bkq([_)< cv!g&)++.11 AV YVan den Bosch syndrome s-k4*u PDistal duplication 6p!OY~3[qE5 dx&&,bw5Classic phenylketonuria9C  2 ;j)6*pGl0Early-onset autosomal dominant Alzheimer disease 8H 2 M )),01v Nager syndromezG[fmk- \ e`!g%&e)wT? 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^ ~ < B n hj&f)-/G0Z1x`Rasmussen subacute encephalitis0<0GV - 2 M P i j j*B+Y++++++/}12/Nbf{{/}}.4F+Pelizaeus-Merzbacher disease, connatal form)@ { u >o**p/ 0u|`w&+Benign familial neonatal-infantile seizuresF8S| +c9{'xIgG4-related aortitis~ 3 W [ Oj^)+00i1i1z}=}~,H71Pulmonary non-tuberculous mycobacterial infection .29;> n1c>xnz}}~f6\Milroy disease"0 ; @ )2u zn Thoracomelic dysplasia7f7r T ) "&b0PxbStickler syndrome type 1GW!<fb \ |*~ VMacrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome-/<KW0K3GNw +0ibyhi9Mesoaxial synostotic syndactyly with phalangeal reduction qS %&-&2&s'}c4Medullary thyroid carcinomaR  j 1 j )~uV"3-methylglutaconic aciduria type 3  Primary sclerosing cholangitis3S*9rstzc  0 ^  t)).t/S0Z001uuS&+J4IRVAN syndrome en{qb &Overhydrated hereditary stomatocytosis V^~, ac[ca@Autosomal recessive cerebellar ataxia with late-onset spasticity:D  v * Z mX*ORift valley fever,*=?e,Qdo  O Q ^ Z /S/Ngabd{}v~Cq ZDGlycogen storage disease due to phosphoglycerate kinase 1 deficiencyS,j,9V X a ~ B#<1^N^8_X Rothmund-Thomson syndrome type 2B^]Sou{t i m o , - / us+`%&K&L'A**1z`? l L5HGlycogen storage disease due to glucose-6-phosphatase deficiency type Ib=]iy%7567ZZuzdoek} c  4 8#*.r./r0[x&B45O`Lupus erythematosus tumidus  Nccuivy}G@XRecessive intellectual disability-motor dysfunction-multiple joint contractures syndromeBy>@ E H J 1B*p,hoNon-functioning paraganglioma-G 9>ERc    P l 0  7!)$-.0Zbz4CCraniopharyngioma.,m7_f=]z  8  M c Z3 5")')P*--/0w9w|1Capillary malformation-arteriovenous malformation [cd h MS#(F, 1NibwIgG4-related ophthalmic disease*M;CKlX( i P6q&g*H+,-0i0uwz1|~,&5--v 46,XY partial gonadal dysgenesis+-/6:>d,/7ENd k    (!"""" (./2Fw~ Hereditary xanthinuria ~$Z t ~ ;,**.&.0NjuZAutosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome'~4Uf'4MSA]_k  S s*p.` 3Deaf blind hypopigmentation syndrome, Yemenite typeB\d$ 2!3, G65%Hereditary painful callosities02Mowat-Wilson syndrome due to a ZEB2 point mutation")/06KLw}~/3<Bf!8dgA()@C[[]dijkor78NX  1 8 / Z )>alR,bf"%&%&&'G)+p+,5,.n/10a0b v8v_xG|AA!Neuroendocrine tumor of the colon  7 ^ H!<1auuv{N= w+Maternal uniparental disomy of chromosome 6"EQG  B!uhy@Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromei qntDistal myopathy, Tateyama type  4 {"##-#guw_#Acute peripheral arterial occlusionz I j&#+q0ax~z' !Tubulinopathy-associated dysgyria(GI ;j)/N001N|~49,XYYYY syndrome+w<[fEG Z j "$,.,OSfGeroderma osteodysplastica/f.[ Z *G.IW6Galactose mutarotase deficiency t3.0[Ebola hemorrhagic feverQZ`d. ,)/S1Ngb7c_ZSubcorneal pustular dermatosis 5DZ w)* g Shprintzen-Goldberg syndrome5 <G[\fq!6Sfkbnu8G  Z ) W(NZSpinocerebellar ataxia type 26  zHOculomaxillofacial dysostosis[nF x \0Hereditary breast and/or ovarian cancer syndrome - N +/]vq@!Apparent mineralocorticoid excessSy6G T -1;]Congenital vertical talus . 4bv<vgxxU.Fetal and neonatal alloimmune thrombocytopeniajdZz!0z$Leprosy/*jBM,p<' 0 I $#C&f*K*M*S,F,.-/{//0,001e2Niu3v~6 dg^Atopic keratoconjunctivitis/enI,,0Wx Z Sandhoff disease, infantile form8CbuH H e#f)*115MOGS-CDG," 54<_hQ28 "  o")=01Ny`&  Pentosuria++ |(Distal 22q11.2 microduplication syndrome9z/<?BEQW[qFLR]k,r ZF<j& &C+0 Isotretinoin-like syndrome[Fkor!g!"F"&,N-.0N|Congenital patella dislocation ) &;MCerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome !xiMV1X-linked neurodegenerative syndrome, Bertini type ` K >SCARF syndrome 036WfoSfr & +L.2  Williams syndrome ,KLSY]y}3QW[\f!Esx{56:9p9CQfk.HIRZ]_bcdghjkmouzH]fw  H  ? 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Z c ""#c#&)*4,PFO Opitz GBBB syndromeK/01LOw~<W[]fmq-0S[]_kw4G  8 ^-so"/"(8(C)+01|Awy!7q11.23 microduplication syndrome_/z~ 7<BQ[\fkm5A% )Sf]_krG  & 8  y N\!!&&&***p+,E011vl%Isolated sedoheptulokinase deficiencyS[\JY[itWoG 3 ",./S/}1"Congenital rubella syndrome8]_kQow>u+Kleine-Levin syndrome#en Fw , ":)&1rbv yzOYZOYvMyotonia permanensUZ,`H.3 B  \.Omphalocele syndrome, Shprintzen-Goldberg typeT S Z D"-"%S,Distal deletion 10p<[flmkq-" &S,Pw 2Growth delay-hydrocephaly-lung hypoplasia syndrome[F) j  W&XP,Brachydactyly-arterial hypertension syndrome6&K'A|<1p21.3 microdeletion syndrome%[!Ff |lbP Wildervanck syndrome Dlr !O)Q MASA syndrome CG MqN.46,XX testicular difference of sex development>" A*Alpha-N-acetylgalactosaminidase deficiencymj)hHy  H Z&f(, 0yFetal trimethadione syndrome/>[q]_d Z |++. )Atrial septal defect, coronary sinus type*,.  ;  *--0Z0^wzA{{{|S3Juvenile myoclonic epilepsy IU E XX'bz&Epithelial recurrent erosion dystrophy /enIkg&|0 ZlCongenital sialidosis type 2*M\mq<8[ H +F&()*8.w*qjnPrimary Sjögren syndromeRMScI%,YOQZ`gi_ 5 I i OK-&f).J/9/0Z0c0Nxypzz||}-&- j  AVGemignani syndrome #7C " Y-Autosomal dominant focal dystonia, DYT25 type //y P 1$Trismus-pseudocamptodactyly syndrome/` &-[5,Elastosis perforans serpiginosa 1bcccv c]Recessive X-linked ichthyosis wj}O)@Distal myopathy with posterior leg and anterior hand involvementZf] (""#"#C#V#]0uvoy Z$Pyruvate dehydrogenase E3 deficiency wfg ^ 8 B *.0r1xtsPituitary gigantismb/Mfg)Zo,-0{v=b0Primary membranoproliferative glomerulonephritisS]d6z [ -,1NxSaethre-Chotzen syndrome=&<DG\mqyYMS[- & Z qX!g& &'d)')*7,(,zw"Blomstrand lethal chondrodysplasia%W[qV) |T*W""'A(B*8*+TFBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome`4H  & Dv"L,0|eg(Persistent hyperplastic primary vitreous+-8RjP t&&*.m/MxxQ19q13.11 microdeletion syndrome(/0\m!^]Gt q* .w 76,3Severe generalized junctional epidermolysis bullosa= FHQk~!-<=BIOl~o'*.2; , > '"+p !(C(.6/Nz c i[nAcral peeling skin syndrome !3*0i1 b iXZ;@Vacuolar myopathy with sarcoplasmic reticulum protein aggregates ~ AlSyndactyly type 5qS$%&m5Autosomal recessive hypohidrotic ectodermal dysplasia ;<R [Middle ear neuroendocrine tumor ht )Q%Fibrodysplasia ossificans progressiva#m`i<4o- A Z c ' 'F'J'}...uVuvxvh-NMFF-related encephalopathy due to mitochondrial and peroxisomal fission defect ,C 1 H l#f+Y./7111b`q%Paroxysmal non-kinesigenic dyskinesia4k.w c94 fKeipert syndrome<GQIq&l&'K'}')*4,(w?Alopecia-contractures-dwarfism-intellectual disability syndrome#<f!Fk< Z ^ qF "& &S+|Somatostatinoma#34EMf~   1 M N Q .,^  @0.0ueBranchiootic syndromeD[dgmfs!&C)l ,Lower limb malformation-hypospadias syndrome /EfV- wb9Autosomal recessive spastic ataxia of Charlevoix-Saguenay&"%(,b  n mX+#C&f*N./H2`^L`-$Drug-induced localized lipodystrophy=*dPrimary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome$rt 3 X ^ S + 0Zcuiuxxxy y}}-;<>?BCkcUDentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome B)Sr 2BShort stature-deafness-neutrophil dysfunction-dysmorphism syndromeS h-*c+3-methylcrotonyl-CoA carboxylase deficiency -3vFamilial hypoaldosteronismNPi 7 V+b.0LC'Amoebiasis due to Entamoeba histolyticac o.9   A ^  S!^.1aa}|Acromicric dysplasia7WkI  |  *'A wN6#Inherited Creutzfeldt-Jakob disease2] ,89F  a j aiX).*^+[0,1b@5ACongenital syphilis.dm*VQo* {+T+p/0`0}012c7Hypohidrotic ectodermal dysplasia with immunodeficiency" "  "))+d, Ny{-i"1Familial median cleft of the upper and lower lips 5F()0-`PAcanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome i?MW B!t.Autosomal recessive spastic paraplegia type 76   [ Z &f,|TWAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndromeF}<Adf!}@3GI & 8 B E  rj"*n+...1ux`^`l2Autosomal dominant nocturnal frontal lobe epilepsyA Cj+++bbb{/{e|l-Spondyloepimetaphyseal dysplasia, Shohat type!fBI Z g   *> !!&bcR Aspergillosis8MluZSX*.369>Az O nt,2,[,- /S1NNb[xz}} ZBnChromosome Y microdeletion !".,ISebocystomatosis%/q)Hereditary pheochromocytoma-paraganglioma)]`-G 9>ERc    P l 0  7Q\!%)$-./0Zbz4Diabetic embryopathy 6Ib~[fm]d ^>x!g!(=(NwN|=Persistent placoid maculopathyOF*F,0 AOphthalmoplegia-intellectual disability-lingua scrotalis syndrome !UZ0)/M8KDM5C-related syndromic X-linked intellectual disabilityGC"*pu ,Pseudoleprechaunism syndrome, Patterson type3j) | ) l si]"T*C*p0|1v- 2 Blount disease [)_SIPrimary dystonia, DYT2 type 9 .!(Atrial septal defect, sinus venosus typecs,. ; 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(*+s0ic#x]4Progressive supranuclear palsy-corticobasal syndrome:92| 2 7 F M 1X#v  G-9Autosomal semi-dominant severe lipodystrophic laminopathy17[3Weu=cgNk = ~ 3@O##!#&+wJZD'Autosomal recessive ataxia, Beauce type):U#'C &  L Z > u  c\,c:|{LRecurrent infections associated with rare immunoglobulin isotypes deficiency/ 3:YZ*3> 0 i " y o+e+f0Z0c0Nuy}~~}!=Laminin subunit alpha 2-related congenital muscular dystrophy5#',;[Lf ,-I G Z  > `#A)**8-1x1uvAtypical juvenile parkinsonismR48U|  : y ZX# 0Z01^4Mitochondrial DNA depletion syndrome, myopathic form&NU ,-2  H Z > ~ r:e!!"#q0vo/Autosomal recessive faciodigitogenital syndrome"1<EW[]fF}f |q*7,_ U 0 Triploidy"/><[fdP  dx" V .Spastic paraplegia-precocious puberty syndromeD &l*'L(Dimethylglycine dehydrogenase deficiency 0[AXIntellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeGOknyUW[\mq!F:=Sf[_k5IKfk Z " 6  r P1!&`)(*4*B*Y*b*p+,.B0U1bx`i(Hypocalcemic vitamin D-dependent rickets.cv ,fd ] c g U ] " S ]]")))/|VDAutosomal recessive palmoplantar keratoderma and congenital alopecia k G-1Chronic visceral acid sphingomyelinase deficiency/79%0rwvQdIk P  / E sxj&f)0vY8 Aneurysm-osteoarthritis syndrome2<\)f[jku{ 9 W Z k P *-}0c^,Dystrophic epidermolysis bullosa pruriginosa 3  &S/[u b cv7bX-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency" <q,Ai\y z")(,01vxx_iCold agglutinin disease,V Z/60ZCHypogonadism-mitral valve prolapse-intellectual disability syndrome#br,b]Aminoacylase 1 deficiency <8 D%U Invasive mole, Kabuki syndrome\/JOQ~d8MPa}9:]f[_GH 1 Z y qR5 !" ""$(J.11bbu1vyo wAH8q24.3 microdeletion syndromeeLMz}%,4?AUWf>AFa1{ ^fi[]k|.[25 &   q|8l'"$&D'}(1))!)q))+;+,D,,-01(S-LSpondylo-ocular syndrome)<Wq!8<f]r ~ s2& xTAdult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy m5DNf] 9 f Z = jX.uvo={Dermatoleukodystrophy0#C1_""9q31.1q31.3 microdeletion syndrome/~lo{ 4Z,N..0Pc  wQ @ Gastroschisis V  *+\,zHAlopecia totalis   xT+4Alagille syndrome+Ed37<B[3g67k0t]_ u ^q i!&0PLarsen syndrome<SfZ- Z ^*"3&l&+,(0PzSpinocerebellar ataxia type 20CR  X)1/uuuw<fPf]G b" "LkCongenital megacalycosis ik~/b n.Digital extensor muscle aplasia-polyneuropathy  ;Hemolytic anemia due to red cell pyruvate kinase deficiencyUo |_ Z, 0bXMyxopapillary ependymoma t H1xq|d(Non-syndromic bicoronal craniosynostosis <Qm %&.yPfeiffer syndrome/<BD\i q&-),(0PV6Familial clubfoot due to 17q23.1q23.2 microduplicationin"Idiopathic neonatal atrial flutter2 +*"&H-1xabY!Granular corneal dystrophy type I eg,, ZP- Aniridia-absent patella syndromeb5COG7-CDG!M[[ ^ ",./}0 0@Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome.M=>p[gQ(9Vz X #&f)(++q,Z111aaacLcvz|2R"Microphthalmia with limb anomalies9UGW[f8Ef$&9<[ &  qhW $&)*p+,(,fV"Atypical hemolytic uremic syndrome ]OQO(%lW2Short rib-polydactyly syndrome, Verma-Naumoff type/>Yk~W[))-G 4 -T" " "#(9(B)Dw $Myopathy and diabetes mellitus '2 & 7 [ "#V#q/0g0ucvoz+rCerebrofaciothoracic dysplasia#!<f>|(GHr Z y | ^).yDysosteosclerosis<m ] H !*>=Adult-onset Still disease7]*Yj o26  ^ k / S s"*++.y/S/|0Z12c>c_2q37 microdeletion syndrome47FfA 8 k qj'A* .w ww+Maternal uniparental disomy of chromosome 4' DicU ( F J {+)"*O*{.t.|+| }Hereditary hyperekplexia8C]k 8 L i Cap myopathy #Kb 7 u 8 z  < ? t*#V)-ucuk{Fixed drug eruption 1((*,Z,\0ZNb7c}5 iBElSyndactyly type 4 `%h)R""Symbrachydactyly of hands and feet Z ^e%&H.97Bilateral parasagittal parieto-occipital polymicrogyriamA ? P p"=*n,!z{erHoloprosencephaly]O]!<y78>EFYd3>gi,4Pf]di[$- Z V 9]/" "#& &B&L&&(=(>)+\-1_Beta-ketothiolase deficiency*6 feg 7 g *p,011!2Kidney tubulopathy-dilated cardiomyopathy syndromey[clmf U e +1@/*X-linked Emery-Dreifuss muscular dystrophy+#kEgmk Z E ~ Z k#""#"#%#.ucu4ACys amyloidosis>+.VAutosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectAEgv  7 L 0 t #C#_*TMWild type ABeta2M amyloidosisYc I w%-//00xqxrx{\lBrachydactyly type Cq$$%%%&-'*) )S)d53Hydroxykynureninuriaq 7 E!O((-Autosomal dominant spastic paraplegia type 31D [ x"#"#V*Ov:_Psychogenic movement disordersw|PColchicine poisoningS<cO2d 7 T U V e ' 8+b-2uC7Temple syndrome due to paternal 14q32.2 hypomethylationB[1:f Z 4A(b""+.1u w\&=cz\ ( 2 M  4@#/d%xyR|UhMowat-Wilson syndrome")/06KLM}~/3<f!8dl([[djkor8GNUX  & 8 H {  / Z )#aRf%&%&'G)* *]*b*n*p++,>/10a11b bDv8|}.AArb*X-linked non progressive cerebellar ataxia()  ) 7 "%Hereditary ATTR amyloidosis$Sdp"I,c   >#C*M-./0,01byyz_}NAlpha-thalassemia9cVo /)|*.~dRoifman syndrome&,<W,} 'X & _ ` q"d"|"+2B:4'Pyridoxal phosphate-responsive seizures8VUg I"*c*****.cVx GMucopolysaccharidosis type 6mukv ` ) O&w.Mitochondrial trifunctional protein deficiency.D=,tcfu- 7 > U B <"#g&f-. b9uc!20q11.2 microduplication syndrome506%EUfa & |qo/!g"&&*4*p*.10Py  EI F!Isolated congenital laryngeal webAI2(C Orofaciodigital syndrome type 64h<[f5 (9[%8 s <F|!!"#|.S}ACraniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome  <[)`Andersen-Tawil syndrome3Y|<DEGQ[q[,0flyH ZS@(/+A11axO{ w/nS46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency3!%7CPVi 7 V # R  (!""*%+b-..//161=26vv^XGanglioneuroma;6B  &d"G KV#Small cell carcinoma of the bladder  %\zGlutaric acidemia type 3 0 g N + f!Childhood-onset nemaline myopathy-<[ E[Wf  Z ~ jk#_#b.ub!.Autosomal recessive spastic paraplegia type 63 C 0wEeMast cell sarcoma   0ZpqWAdenocarcinoma of the esophagus H ",1YChédiak-Higashi syndromeLe,09/QSTYdok V ^   K2&f.].|./q/|/0Nc[z )Isolated Klippel-Feil syndromeDm ]r n Z -d!wDJUPrimary condylar hyperplasia2D$#*- 6+5Junctional epidermolysis bullosa with pyloric atresiaFKn~!#- / (+\/ 1Carvajal syndromeclgokUremic pruritus- 8 f B"+h+s,Z1Nz{|u b} Crisponi syndrome%W[[`m- Z .yM7Adult intestinal botulism ,. Hereditary angioedema type 1I.2 7 IikZ.O../c{vBowen-Conradi syndromeT[k.5Gq""",PwTemtamy syndrome <D[q78df' qN=i3Xanthoma disseminatumXi@ cRi :SLC39A13-related spondylodysplastic Ehlers-Danlos syndromeP[ \ * A"("Sporadic Creutzfeldt-Jakob disease 8 4{ 2 ? j X1x{PPoma 4EMf9~   M N Q .,^C  @0.uul:Spondyloepimetaphyseal dysplasia congenita, Strudwick type<[m! e I!"3"`&H)Y0P"2Hereditary sensory and autonomic neuropathy type 1m",]  x 0mZm~#C&#*M*R1yT j7Kagami-Ogata syndrome(!%[E` 7AVZ u q D{ !g",G.bRCongenital lethal erythroderma - *|Bohring-Opitz syndromeA%)<[fM9Q]`h~8G 8 k 6 E oG""(3)*p*0001A!`ICongenital limbs-face contractures-hypotonia-developmental delay syndrome2<?QW[q!5[8-  Z &.0.0a1Z_Paroxysmal cold hemoglobinuria b Z9/6#6 Pili gemini _S$+Familial avascular necrosis of femoral head &"`"l"xvyR{  Woodhouse-Sakati syndrome# 6E578?J4<   !!!"(N"Insulin-resistance syndrome type A7Zm6Congenital microcoriaejn26///L2{~n"15q11q13 microduplication syndrome*fqjwAcro-renal-ocular syndrome,LU<78LMdd<[  ^heV!"%&2'K'}1S7Benign paroxysmal tonic upgaze of childhood with ataxiaSnCloacal exstrophy8FHJLUV n   y !" 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H08Proton-pump inhibitor-responsive esophageal eosinophilia3 y"(.x|r||AB'B(BsB}u n%Congenital pulmonary lymphangiectasiacj,2<n.L1Landau-Kleffner syndrome,FI 2 7 8 C H M P 0rjf#+Z++++..bfcuiv{|f 8UMicrocornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome,78d ,XAlopecia universalis 146= /+6Multicentric osteolysis-nodulosis-arthropathy spectrum';d6#=YZ]_bo c A"jZ#(J,[+`ͻ$Short stature due to GHSR deficiency 7 v2Congenital hyperinsulinism due to HNF4A deficiency!]9J'9q  ( ^  S Z0[0ZRefractory celiac disease cid i % U ^ e  +)+s,/cAuiw` Acatalasemia JZ00+w9Lamellar ichthyosisS=+Gj\Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeCs 7 I #]#_&fbF6Spinocerebellar ataxia type 32 h51Idiopathic trachyonychia>  +@Global developmental delay-osteopenia-ectodermal defect syndrome'QW[>0f9u 1 7 k<j;)+9+B+u+,h0M0abHVYf95Glycogen storage disease due to aldolase A deficiency,0Vi a   #U-1"Borjeson-Forssman-Lehmann syndrome".Pm>Ef', "" "&&fxDermatitis herpetiformis4 ] %*01zeu e= = = =  <Say-Barber-Miller syndrome9<T[fF`S/ Z ^  8z%Q,,/0y .QEGaucher disease-ophthalmoplegia-cardiovascular calcification syndrome?:Z]7"9=CsQTo,GKX ; Z 6c!)/.0ebHbfc<z j7Craniofacial dysostosis-diaphyseal hyperplasia syndrome$<G U Z \ z!*W&L)*.0PKiOvarian fibroma   o !)k)zve.)Inherited epidermodysplasia verruciformis - , b c g ks#Choroidal atrophy-alopecia syndrome o *)F E !Glutathione synthetase deficiencyV *LBothnia retinal dystrophy"'D[`bci*0ww w@wAw}ve#Axial spondylometaphyseal dysplasia/,evw S Z 2 3   l / S 8Y !C"R"l&`.1&Overlap myositis(M36YZ[QZ, ^ / u#%#]&#+q.>b+b6xx}(-{F #Desmoplastic small round cell tumor o  # N *$qOuFamilial hyperprolactinemia l2V^SAutosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form.<7 ![-l ot ,  +(8(,.0f|W|o T iLOxoglutaric aciduria 0 (.0q&Autoerythrocyte sensitization syndrome*Ufz  = "B/,/0Z0c>cuyzlANon-distal duplication 13qW[>Y d |x& &jPAnophthalmia plus syndrome<fEdq n ^&.Distal limb deficiencies-micrognathia syndromeSY]4Gf!/ & d e %/q.Autosomal dominant optic atrophy, classic form,'Z[35W ~ k&.0Z0cvow3͑Somatomammotropinoma<,b%/Q"36>Mf0jIguM M I X/o )'-0Z2`G Congenital factor VII deficiency z*.s3Smith-Magenis syndrome^Ew/<ABQ[!F57:kI[Gkw 1 8 Z 4 |qCj!"&f)'**4-.1bHucw})~~flyOY[ #Congenital isolated ACTH deficiency C} 7 V-/S0Zm$Acrocallosal syndrome/b <Ty*pSFCongenital muscular dystrophy-infantile cataract-hypogonadism syndrome*f "m!14q11.2 microduplication syndrome<[5 F 8 j"1n*COASY protein-associated neurodegeneration  # )*/Fs7CAR T cell therapy-associated cytokine release syndrome q 7 > X ^ ,++h+m-0Z01i1x1u5vx?P$Hyperkeratosis lenticularis perstans o , b j~Spinocerebellar ataxia type 28U4 * 2 [ uLp(Circumscribed palmoplantar hypokeratosis(+q cv%!Mucolipidosis type III alpha/beta$%0[kIcu{ ] "#?(/%/q8Renal agenesis, bilateralh<q) )w Adrenomyeloneuropathy1 NQC_ 2 /  x Z ^b # #]&f(,-0Z0u>uyX|esBEqBoutonneuse feverSeQZ I > ^ 1b} dG4Grange syndrome 60]k{ c`Localized scleroderma7MDn*h0Y[Z& P I ~ J#;*+,C,[-.-cuexxzg # i$Staphylococcal necrotizing pneumonia&3 Z*.29;A 7 > +.y..01b8cKc_xzz)|x}}}~4h 4Spastic paraplegia-facial-cutaneous lesions syndrome Cw 1)6,Sialidosis type 1*,89Fw 1 Z \  (B), / l+Dislocation of the hip-dysmorphism syndromeO<l^fk *,@VCaffey diseaseD- ZcA")2co ;Dysraphism-cleft lip/palate-limb reduction defects syndrome ]  n-eM:SYNGAP1-related developmental and epileptic encephalopathy)/E9@ & 8 B H "B"*P*p+11NxZ>AH amyloidosispU}&fx{yGyTypical nemaline myopathy'['E[- G Z ) = ~ #C).uuu/Juvenile Huntington disease48C GX 1u b Proximal symphalangism q S "Ear-patella-short stature syndrome1'/;<@G[dfmq0Sf.2 >  q*+!" &&,.0^k2Hirschsprung disease-deafness-polydactyly syndromeh<%pa$Attenuated Chédiak-Higashi syndromeS  Y&f jK3Aicardi-Goutières syndromeH6qq35'?49MYIghGT[ C H o Z ^ NcX"%%%.:00uVvx Fountain syndrome,%7<!>w 1 n Z &*.> byu%Pituitary stalk interruption syndrome57C`i" -*Autosomal recessive centronuclear myopathy$UZ ERv- ? K gkt#V)z56*Idiopathic pulmonary arterial hypertensionc,.9<)/Bu-ld"Spondyloepiphyseal dysplasia tarda1`j Z ^ z ~  % I Z YhC"l"&#')O)*1b+bxwhc 3Spastic paraplegia-neuropathy-poikiloderma syndrome Hml,:Alexander disease=356:,9CKRm-wy 1 8 H M O j / 7 Z X9)')0,ly|Bronchial neuroendocrine tumorMw *.39 7 . H R!,<1uuvxlz{N= AepBenign occipital epilepsy ? P.c2Aicardi syndrome2B78L7:|:MiGN & 1 Z D "**p,O,P0 H wQ2-Male infertility due to acephalic spermatozoa /2C2E 5Multiple benign circumferential skin creases on limbs-./W[fy80c pbeX!Cataract-ataxia-deafness syndrome 9!&fDuplication of urethra ')/06L !!""'(/01'1c?cKFamilial dilated cardiomyopathy with conduction defect due to LMNA mutationcelm *#11z{: Wild type ATTR amyloidosis S]dpcgrz~   / + S X>)-/0,z_ ,Aymé-Gripp syndromeB]<W\fqFJMS`k.GH 1 E Z x s |qo!g"",E0P0a1wt$Autosomal recessive Robinow syndromeP~<BW[fmFP}<]_di< Z | ^q-" "&'K(8(9*4*7+=,(.2 +Isolated succinate-CoQ reductase deficiency2L Dj Zg K  7 H u < mu*h"+,O2^`."Idiopathic localized lipodystrophy =*+s08CMucopolysaccharidosis type 19 %&m]kHcgnv8 H Z I X*&*1 ILaurence-Moon syndromeSfd 4Z" &w]kXp22.3 microdeletion syndrome ,!e d-OxM'Proximal 16p11.2 microdeletion syndrome4<Q[04S[_nsG Z D j#+Z,W..1^B2 Young syndrome 1.g Plummer-Vinson syndrome>c <,(,070a:5Crigler-Najjar syndrome type 2  Z =Blepharophimosis-intellectual disability syndrome, SBBYS type+ T[fqEf50f]_k u qJf'& .1(|GGATA2 deficiency spectrum<K Qwz  > .0ZtGHereditary persistence of fetal hemoglobin-sickle cell disease syndrome A  .} 5 MGAT2-CDG6 <fk2 []kd2  Z r  G &%*,-./00z t(Aminopterin/methotrexate embryofetopathy!/<[fP]d[$  \ G%&(=km7Glycogen storage disease due to acid maltase deficiencyI)Rm,[gh-2  / I Z ; > ? P-`Z""#q#()'.0Z0[011c[uuuvzN|}\t-!Emery-Dreifuss muscular dystrophy+#kEglmk Z E ~ Z k#""#"#%#.ucu(Alpha-mannosidosis, adult form! {T*H   (/}c>y 9African trypanosomiasisVS"2O=M,9A<Vc Gw 8 L + I C *O,---0Z012b9cubz~C~o-4Bo.Familial infantile bilateral striatal necrosis$48Cw 7 H \ W"11^Formiminoglutamic aciduria _ao*p*,N0/0[1} &/Mitochondrial myopathy and sideroblastic anemiaW[7o Z 8 | ~ #_&#Paroxysmal nocturnal hemoglobinuria,S]"6zQTVZos.  A O  B9DH Z/d01NNbc>c[v(v@}+}j}oLujan-Fryns syndrome"5BG[\qfHK_w Zj HSchneckenbecken dysplasia r !"/K0uDentin dysplasiaR* [SHORT syndrome%<EPQgs3Wf< w ,#)+.Primary hyperoxaluria!y'ff ] ^ WAO!&f+@,/(1N1bcx|BT-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency<SX` M')cz+DSevere intellectual disability-progressive spastic diplegia syndrome ?Wm!G` 8 H D"&%,bHlb~Charlie M syndrome<B[ &LLathosterolosis-U%TUW[m08w~&Q[  |FoO V" .cgjqBazex-Dupré-Christol syndromey  o&p Amish lethal microcephalyT[(;`G n P,P.=Idiopathic hypercalciuriaf!1]dFloating-Harbor syndromeO/hkqy~BEGqQ:n~@iKT_dX & 0 u'oj!j&%&2'A**+Z,$-O02GbHuv`fAcquired purpura fulminans'wQz h =++.|1aclcz)zDFacial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome4Ha Z Y(2qn-Homocystinuria without methylmalonic aciduria HM%.X-linked intellectual disability, Schimke typeL~m @CH u lB",4Vk&Spondylometaphyseal dysplasia, A4 type` a qG9Mild phosphoribosylpyrophosphate synthetase superactivity SYe M 1RNj bFacial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationD}<AQfm<>}'@&3G 8 rj&B+++../,1`^lq !17q11.2 microduplication syndrome5;&.V"Granular corneal dystrophy type II nOzg,Arginine vasopressin resistance HS V *&N)+b.Genitopalatocardiac syndrome%/<[q Z !wf"Pudendal nerve entrapment syndrome I0u@ux}A%+Parenteral nutrition-associated cholestasis9rsuwV \ ^  S+i,x} IMoebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome,*  & )@-Adiposis dolorosa(356Y- 2 8 H / I &f+0Z0c>c|'Cardiac-valvular Ehlers-Danlos syndrome1!>"3]f_buv{8<. & 8 ) <9(0Z1{z IlIsolated ulnar hemimelia(ra Z /C_#$$A$$%%& &U&''@'(=([xs:Ring chromosome 4 syndrome eCHARGE syndrome^,06BLU~<Dfgmy78Mdqx7>B PAdkn[- j  Z y qj!g""&(()))*,v-[w[ SERKAL syndrome$/hB]j)/wA%Vein of Galen aneurysmal malformation 935 ALG12-CDG]/6wB[y ).Vkw<QGr U  Z V ^  J r =q#%)=*,?,P,-g..I.0[0a01v6 ABBBBBB;,Focal dermal hypoplasiaEU~3Dmqr78d~;<=]k/ n ZB*R/!"#&L**7.G11> d~Odontochondrodysplasiafk2 Z q | W)STInhalational anthrax  .2 7++0Z@Atrial standstill [[cf~s.\  M #----0Z1xcwx{:{kB>(I Adamantinoma ] |J?Syndromic multisystem autoimmune disease due to Itch deficiency&  Kf5rTp }",./S0abc#uuy&+]AAtrial septal defect-atrioventricular conduction defects syndrome--&pAdult Krabbe disease,<X  ( 1 7 C r Z j r&f*N+X,0[y|tSecondary short bowel syndrome @t    = ' #++\,. 22v'v(#Desmosterolosis8>h[fknq3;k0[GNU  | !&***+.=Megalencephaly-capillary malformation-polymicrogyria syndrome#%D\ f%GN  M h-1_wcDK1-CDG 1@cl ^ :"*Y*],N-0[0bzWza|z!.Autosomal recessive spastic paraplegia type 67C H tl0 r*X-linked hypohidrotic ectodermal dysplasia6>&*3+,0Koolen-De Vries syndrome due to a point mutation{ /KLw~mEF58:'S]f<A[]_fjo8G & 1 n Z \ - N`Rj  "#&*$*p*+Z++,...00111bxP Oculotrichoanal syndrome <8C|f )3Overgrowth-macrocephaly-facial dysmorphism syndromeb QWma ijz+Z1wii1Obesity due to melanocortin 4 receptor deficiency 6Jk Z"#?Bencze syndromeDF*75D3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form-5aGIK  qO)*C*E+Y,O,P,.//01v``5Hereditary motor and sensory neuropathy, Okinawa typeO9. > x ry)2*K+,..1u7uu|B`&4Retinal degeneration-nanophthalmos-glaucoma syndrome!8pLhermitte-Duclos diseaseN ){/12, P bVzfAutosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency f JHearing loss-familial salivary gland insensitivity to aldosterone syndrome V(._7MUTYH-related attenuated familial adenomatous polyposiskv/T  / OmphaloceleV+,,Distal renal tubular acidosis&kry,Vf ] c T % 6  ,6,{./0u1@}B1 Pontiac fever 0Z1k;Contractures-ectodermal dysplasia-cleft lip/palate syndromex` 4Autosomal dominant hypohidrotic ectodermal dysplasiaR+0gQ!'Microduplication Xp11.22p11.23 syndrome :IK1 Metachromatic leukodystrophy-m,49  7 H   / j B:"&#&f,.0[00aucxxyX_7Prader-Willi syndrome due to paternal 15q11q13 deletionF,.<@378:0iG & 8   Z 6 7 2""B"#))*M-. /H/I/0{0|1jbHvy|y{l wC3Non-24-hour sleep-wake syndromej1c>y UOsteoglosphonic dysplasia<[yS Z "&L.I:Dominant beta-thalassemia1F357=Nrszl. )HW#,)|+, -.B...acy; j  Cystinosis!S]p|e57,d M T ~ X&N0Z+Ablepharon macrostomia syndrome'7>Gm!1f. s5!g" ))+ T5ALG1-CDG!MSd`[fO  Z > +,PB %(Mayer-Rokitansky-Küster-Hauser syndromeMUVzm_j ^"(u@uyn{p5ALG9-CDGVi~4<?W[fq5J-C}[]_  )35r \ r | / <o""H"#,#%* +_,.I01v~(@%Ullrich congenital muscular dystrophy[5 ,[ 7 Z > t#)sMuenke syndrome< M X %)S{|cgRapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndromeA<y%78_`f 3 & H O r   0 Z 6 V ^  [ +-. .0,0|11ubll{$Multiple epiphyseal dysplasia type 4:[kqy[`ik' Z \ ^ )  % " "g"}""$$%&2&`'A)bvQyy|_PX-linked hypophosphatemia)uSY`d  ] ) 5 7 S * WZ (;0bcx%|2N~L2Infantile osteopetrosis with neuroaxonal dysplasia: *G&f00bc}(Osteosclerotic bone dysplasia[fq.2 > |#&Acrofrontofacionasal dysostosis/0w<Qq@H $*&*p,(.k?Combined hamartoma of the retina and retinal pigment epitheliumACj]12)iUsher syndrome type 3w<?2!30Y tEarly-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome)@CQ{ H ' > o!x"gLimbal stem cell deficiency/ex/@&,,x Z(-c1Rubinstein-Taybi syndrome due to CREBBP mutations{ "/LMOw~<[q/CMh@fi[]_jkorw*3  % 1   * 6 Dlo8"0""&%&j&l'C'G()B)*+=+O,(,011bu_vwz{:flBx.Congenital myopathy with myasthenic-like onsetZ  Z ~ < ku#f.]Diencephalic syndrome(`7Machado-Joseph disease type 2" No4CE  2 8 B HX"&f. 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B ,X?K  @*0.0x^iMSea-blue histiocytosisQdAqn.*Camptodactyly syndrome, Guadalajara type 2 B]  .EAngelman syndrome due to paternal uniparental disomy of chromosome 15/X]w 1 [ lf2"*8+.bf_9p13 microdeletion syndrome 4q5>:8k J Z qj(,B,N-Bartsocas-Papas syndrome2>[q[ |!&&&1'w I$Mesomelic dysplasia, Nievergelt type ` Z ) qe "*yg!Follicular lymphoma   i 0Zc[uyq dJ9Dystonia-aphonia syndrome8R y`"I//7/8h8Congenital ichthyosis-microcephalus-tetraplegia syndromeC m}Dentinogenesis imperfectamPf8 OV(;(+Lb$ 0Trichodermodysplasia-dental alterations syndrome Z R!3%&L+= & 4 Trisomy 18C~  4<EQ\f8EdP]_   n  | 5 &&*w6Tietz syndromemQm_Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome7 fL u Z gjN),.cc+Sydenham chorea  *.Beta-thalassemia major2F357=Nrszl. )HW#,)|*+-.B...acy; j4Foix-Alajouanine syndrome! ,C]  7 / I Z [ S"#]00011u>Ps _Thanatophoric dysplasia)Mmqfik._k)-G \ t 3 "(B*.0Pw  MOMO syndrome+b<?QW\7jqo ) !.I2 bi;Multicystic dysplastic kidneyFJLUiz6V S x{  Dietary iron overload diseaseN3suz[c  6 . ,--/:/S0024y;6Palmoplantar keratoderma-esophageal carcinoma syndrome ,bbaFamilial paroxysmal ataxiah4 c'Lethal infantile mitochondrial myopathy SNf S$",P $Pericardial and diaphragmatic defect[_dko)  S#-s01Imerslund-Gräsbeck syndrome]q QSTad H ,N]vn|6 Bhu-Autosomal dominant spastic paraplegia type 29my [ X *O*e%Distal 7q11.23 microdeletion syndrome 0_kT jqGGlycogen storage disease due to liver glycogen phosphorylase deficiencyM]7rszg 8 ^  ~1.x +Lethal Kniest-like dysplasiaqW_ f Y!"0PCHarrod syndrome/3YfH T Z u[Multifocal motor neuropathy # L j Bjk#g#u/./Severe X-linked mitochondrial encephalomyopathy -2g G H > "#A&f*,O 3Distal duplication 17q*KL<B[fE)f[5r Z ) !"&*p RCerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy a J Z pX! 011xqxCINCA syndrome,m*jW]VPRow 1 \ +0Z. b :American trypanosomiasiscfs. O &f,[-112ui B4Larsen-like osseous dysplasia-short stature syndromefi T Z \ | qaOculocutaneous albinism type 1e{0Y2F,^2b'cch0Congenital enterocyte heparan sulfate deficiency    *|+^H=Renal agenesisS]hz6])!(*0 2IVLeukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome/7Y" %5 0Mandibulofacial dysostosis-microcephaly syndromeG[dqF_ |l!g!& &,,.LDysspondyloenchondromatosis] Z a ) ? ^E/ i.Infant botulism*X6IT.  8 / 7 V,Z.Autosomal recessive spastic paraplegia type 24Cy0wuc}5Ichthyosis follicularis-alopecia-photophobia syndromeNHM~!*ef)03;<= H H **./}/1 T bk_?Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiencyS {+Post-transplant lymphoproliferative diseaseH  ,/S0ZbuH*ZBIntellectual disability-facial dysmorphism-hand anomalies syndrome"0' & %%%%&2&'9'?(,(...1 11c@Abnormal origin of right or left pulmonary artery from the aorta]_cdk), ;G-T-.00^uwy&|}\Aceruloplasminemia'"`349c 2 *U*./:/0[011co BPDNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect49@KUg H M P Z )9,/G11B Oculoectodermal syndrome$$'/EmEVqt3Z |"-.1_1w8Isochromosomy Yp> "ngFamilial atrial myxomatchs 9 ; <P<!#)-uFAcute encephalopathy with biphasic seizures and late reduced diffusion :+-1z{~4~E1MTay-Sachs diseaseDmj: ,489@CaG{|    2 7 H L P  B b"#Z#)*+,,./0[01az~IH1Pseudoxanthomatous diffuse cutaneous mastocytosis q-Gingival fibromatosis-hypertrichosis syndrome > 1,Congenital-onset Steinert myotonic dystrophy")%'Vk[G 8 S Zb*4+Z--|c|h0MT-ATP6-related mitochondrial spastic paraplegia3%Cf v lX# #]0AApoAIV amyloidosis]`36g}(  Zn+-01N1xx{xyG{:}\e]German syndrome > [\l`dw G .Ԕ#GmX3 rw<QRo  Z h i N !()*,d11> e j}+AAniridia-ptosis-intellectual disability-familial obesity syndrome !<[u&($Charcot-Marie-Tooth disease type 2B1  x 0 4 ; > g w muZQ""##"#Y#]#.vvMaxillonasal dysplasia/G) Z | &L&'*7..t0PAITM2B amyloidosism 0.iSMalan overgrowth syndrome&b,3D\'MGSr & = Z ,V"*p+xO[Aromatase deficiency=b/Wu ] g )  Z !(\ 0Microcephaly-albinism-digital anomalies syndrome[2&'qBecker nevus syndrome-@ Z (G)Fm%Unilateral hemispheric polymicrogyriaK ,+011N51Alpha-N-acetylgalactosaminidase deficiency type 2hm/h O&f0 b6 Familial supernumerary nipplesw HASevere intellectual disability and progressive spastic paraplegia%)BU4CH  l"g*3*pcb / Trisomy Xb<F:e09fi]_ d qj !"Kikuchi-Fujimoto disease2< QSZo I ^ "*++~+.0Z12b7bbc[cu ] b c d g im K9Early-onset parkinsonism-intellectual disability syndrome w \> Congenital panfollicular nevus)F0 dy5*Acute generalized exanthematous pustulosisStSX. ^ .yz} e g6a$Maculopapular cutaneous mastocytosis. ]*,Z.1Nacz4|\Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome4@  1 >Z "",P,0{u4 *Intellectual disability, Buenos-Aires type~/<TEew T {qFR *7b?RARS-related autosomal recessive hypomyelinating leukodystrophy14C  g u p q#fxqRInterstitial cystitis :N +n+u@% F\Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome #/ 8#f07u Epilepsy with eyelid myoclonia0IK E *B*C*b*d*j++++.Nbf{_Gaisböck syndrome#y36P:zk.ehk  4 B.V+b0Z1=N[ccdtA7{ ElastodermaFc b db"Toxin-mediated infectious botulism ,. ,+ Bifid uvula .+A' CHST3-related skeletal dysplasia<QW[ Z ) "&S'A)V)YwFSchizencephaly T 1 LGenitopatellar syndrome&.~<W[mq_)8 g +!. Marden-Walker syndrome=$'/HMOhn~*[fqE)03k]s0[  Z j!*.1w-|OaHypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome/,6<[!7?c05 )b!O""#'G+,(,O,.1Qj6"X-linked recessive ocular albinism!egOS2FpCat-eye syndromeN~<m78dis!wo'Familial dyskinesia and facial myokymia=48Ccl   "7'SIM1-related Prader-Willi-like syndrome@,.6<@:#'0iLG  Z 6 Z "")(*M. //0{0|011bHb^` wBF;"Erythrokeratoderma ''en cocardes'' h b;Hall-Riggs syndrome<@k Z *&b*p,P0 *Purine nucleoside phosphorylase deficiency`b h  N,.}a l1Nephropathy-deafness-hyperparathyroidism syndromeS]Ko /` Progressive osseous heteroplasia < ` ] *.1 b"(Atrial septal defect, ostium primum type&cus,.9 ; ? <--/0Z0nwz?{k{{{{At1X-linked intellectual disability, Nascimento type@/6L<\mF]dkw5S,r & siU &%)!)*p../N0vgA7OIntellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome6!%3W^@_kX | ' (*n*p,P.B/N0a012 uK!Congenital factor XIII deficiency">w .l.q.s/0$uuwz( RM,&X-linked spinocerebellar ataxia type 4~ 2XOPrimary dystonia, DYT6 type 4 //y iQ-Spondyloepiphyseal dysplasia tarda, Kohn type  & 3 I)SHyperekplexia-epilepsy syndrome  H P*B. gz3Congenital hereditary endothelial dystrophy type II n,,/|0d*Generalized pseudohypoaldosteronism type 1P9 i V "+f--1xlz* g MAA amyloidosis S]dip5NUt} 7+H*&f+.6/1Naux{ pWaardenburg syndrome m{L  n ^!O!x&f+0aWOpsoclonus-myoclonus syndrome:8  8 h - )//uivy;LKB8 Alkaptonuria1ln56Y]jk=ruvzV = Z c  ZRN +./Wd x,B[%Trichorhinophalangeal syndrome type 2& LWf>]fi.[G ] )o#&'+=w Otodental syndrome%FW8dO+++<+>+Fzyo6Thumb deformity-alopecia-pigmentation anomaly syndrome0< M R &2)!d90g%Paraneoplastic sensory ganglionopathyLKPz"Proximal Xq28 duplication syndrome/Ekw d*4*p,Pp$Autosomal spastic paraplegia type 30:  [ x ml# 0w6'OAutosomal dominant generalized epidermolysis bullosa simplex, intermediate form   #%*  b zgX-linked dystonia-parkinsonism8|  7 : J o*8.yiPhenobarbital embryopathy//<qady 2SHIsaacs syndrome , 1 L k x B #)2LKEO BrucellosisMcwYpVZn QZfo*  O k  B"&f++/9/Z/00Z0c02ab7bCbc>v*v|}lAAarskog-Scott syndrome117<GQWfyfc[ qj&w w^ HLanger mesomelic dysplasia  *W\"$ :Phakomatosis pigmentokeratotica M:C n Z j k o +0*A-/1'1cvx^c Kawasaki disease.]:Ycvf I  j+--/S0Z2bccccxyBz#AeSpondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome)<W[!8} q ? ~ l | &6"O&S(*,>,A.IVBHip dysplasia, Beukes type i Z *#)N.IE<)Progressive symmetric erythrokeratodermia* c )Oculocerebrofacial syndrome, Kaufman type,?B[!EFKos0).2 >]!)3.1h6-(Junctional epidermolysis bullosa inversa  3" ,[N OVaginal atresia -u;u{ { Bj4H leukodystrophy ,!:7849  nHxybGNon-acquired panhypopituitarism,78G 7 h 5"&(G)-0Z1J&vOguchi disease !`0xh!6Epiphyseal dysplasia-hearing loss-dysmorphism syndrome<DW7 Z 5%/Idiopathic steroid-resistant nephrotic syndrome]ak   / 4H.1#1.z!{tm5!Hemidystonia-hemiatrophy syndrome4 X),/J15?3-phosphoserine phosphatase deficiency, infantile/juvenile form/%QU[ &"./ Neurofibroma+  N Xd_.d%y&&.001eZԿ8p23.1 microdeletion syndrome1/%[\qyFdgk |?F'j%'K,(wd?Autosomal recessive myogenic arthrogryposis multiplex congenitaW Z ?G]"",1u{՜.Autosomal recessive spastic paraplegia type 78 =]4CH > lHXCystic echinococcosis)k[ X3  3 X ^ Sn<)P),[,/0Z1"dvx{{|}e~AW(Biemond syndrome type 2 ,/8M76Non-syndromic bilambdoid and sagittal craniosynostosis <BD[qSkq&,P `Sillence syndrome,=0 Z l Z G "r$&h&j'D',(0aKShort stature-delayed bone age due to thyroid hormone metabolism deficiency m Z ?#"#]0[1{|}\MZ8X-linked intellectual disability-ataxia-apraxia syndromeZiAtresia of urethra HLSn~ ((*l Blepharo-cheilo-odontic syndrome<&,b2i hw+Paternal uniparental disomy of chromosome 6A [kJ:Yf]hk K S"*rGAntenatal multiminicore disease with arthrogryposis multiplex congenita q[7- Z ru (Kallmann syndrome-heart disease syndrome,6h7clu{ k[!"())-v.uu{Sheldon-Hall syndrome[k Z ^e $)=8 Isolated anencephaly/exencephaly  V8q21.11 microdeletion syndrome'%7<B[\mq8EK 82" (n_&Mixed-type autoimmune hemolytic anemia,qb i ; /60Zb.LMNA-related cardiocutaneous progeria syndrome16cru1kz 8 o 4>Sn+ 0mvFF=Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeK9C  0 .1ucxcl Heparin-induced thrombocytopeniazs A M HDH1iv('tArgininosuccinic aciduria3S6,049rswzfk  1 T ^ I:j&,b-.1d~~5Silver-Russell syndrome due to 11p15 microduplicationDE0 q"""+.EProgressive encephalopathy with leukodystrophy due to DECR deficiency'4Gq o !)(*.11`uThyroid ectopia45,IR m *p0ZHELLP syndrome ]">QV 7 ^ Z9+,.|0Zc[cxrAjSpinocerebellar ataxia type 219 )~:X-linked dominant chondrodysplasia, Chassaing-Lacombe typeB[q8s) 2 | "W-Hyperimmunoglobulinemia D with periodic fever'Y`  I ^*+c bO Pineocytoma lS 2 jwCmQIntrauterine growth restriction-short stature-early adult-onset diabetes syndrome"7Splenogonadal fusion-limb defects-micrognathia syndrome[fMiV5   /&LwX+Ebstein malformation of the tricuspid valveV_ckm- MD(L-7--0Zwnh6Autosomal dominant Charcot-Marie-Tooth disease type 2K  x u#+X-G'Non-syndromic sagittal craniosynostosis   N Urofacial syndrome LS~6 /2&Partial atrioventricular septal defectdkoru  ;!#<*---9uxzB8XY type gonadal dysgenesis-associated anomalies syndromeE f] Fs!g!),(,NlIsolated fibular hemimelia/nQS`fk['9Q n )  p %h%<&b'.I/0u[x4yR0ZuSpinocerebellar ataxia type 38 9 &fNSolitary fibrous tumor"   h P [0"G* *#/]0ZuxKz{ *=5Temple syndrome due to paternal 14q32.2 microdeletionw[f:'[ b""+u| wOCarney complex@5b6:Mbf)2,z,cs J N O .PKa){)*!*$--/ /12Wbbc'ckuVuxu{v=v  +& SLC39A8-CDG)mq4CSpGH u B p  U z "&b)}0 0P1c=}b !Perlman syndrome&b 7?[\fqJ0U k |" )/:GLivedoid vasculopathy136"3-Tmo\p ; / I )0i0abvyzz} 8'tc jA\$Diffuse cutaneous systemic sclerosisS,Y[c,.A u@u^ jw 3Conductive deafness-malformed external ear syndrome qyd!gdSheehan syndrome1n"_ghl,~g  V V s ,3   0 5---00b7u@uBxKaposi sarcoma p ( "+.0Z1 b c d`2Late-onset distal myopathy, Markesbery-Griggs typeZf *"# #%#-#C#p#q#u&f. 1uyzp40Familial partial lipodystrophy, Köbberling type 36JWuMosaic trisomy 9>Un~ <[q8FY`]_ksv.M5G n  Z \ y F/" +2SOFAnonychia-microcephaly syndromeTq)d Tetrasomy 9pR 6Un~<B[k!Ar 0;Y]asw),N_ q6#+$,-~.0ZuOvxF wsmArginine vasopressin deficiencyi  Vb Otopalatodigital syndrome type 1<Pm`:< \ | W%&2&'}*!x49,XXXXY syndrome@.n/<!EF9Pf3[ Z q qH*Zj!"" *7wb U2Plectin-related limb-girdle muscular dystrophy R17!KZ& 7 ; ? ##]#q-.c[J_JHIDEA syndrome  8 ) *peAlpha-heavy chain disease<o i U FPatent urachus ,(**1J~%[+Intellectual disability-strabismus syndromeH/6<DT[\mqF58M`_k.| |"%&f+.0x00000vy^fVoCerebellar ataxia, Cayman type  ) X `%Autosomal recessive cutis laxa type 1& Lf.c-1; 9 Ji*")*0*1KbOwx}G 'Peroxisomal acyl-CoA oxidase deficiency<q!C-w 1 H*p1_bEVulvovaginal gingival syndrome 7 *+n00bu iBHereditary sensory and autonomic neuropathy due to TECPR2 mutation%&7R   7vFamilial aortic dissectionhk{ 8 W ;EPV_*/01 A %Familial pterygium of the conjunctivaOA !Postaxial tetramelic oligodactyly/!%21q22.11q22.12 microdeletion syndrome;7<?qR@_Qo  C !g"""$ %}',P./0a01uvxO_l1Hereditary cryohydrocytosis with reduced stomatin 6 \ ^="(B*.001lZThanatophoric dysplasia type 2#MmP`f._k$-G \ t /(B*0PgEHartsfield syndrome<f8S$-ea #9Keratosis follicularis-dwarfism-cerebral atrophy syndrome1  hHuntington disease-like 34[HXw $ 9 /HX(Continuous spikes and waves during sleep4A   - H M P f#*C+Z++++..1 {O Cleft velum GK#*o+,. 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BA" Mel1Tubulointerstitial nephritis and uveitis syndrome5e= gi [  6a!)+,,,-/Y/Z/[/\/0Z13bdbczu{|kMN}q ZAlveolar echinococcosis2k Xo.9  M 5 O [ )P))*-./0Z1c>c@cuz<~AMQZX-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeEK\  1 u ~ .$Dopamine beta-hydroxylase deficiencynJW#o.  8 + B #<.0Z0`1~2MQ_ABetaL34V amyloidosis > I 3CFLOTCH syndrome e=&Optic pathway glioma<Zj:+=c  H ?#Craniosynostosis, Philadelphia type}Sfk6Localized dystrophic epidermolysis bullosa, nails only   dMosaic trisomy 1<6k4Dqy8#()]-.)N &  G,{O&(h)*1 S \Kindler epidermolysis bullosa) [-Bo  , '<'?*/+ACamptodactyly-joint contractures-facial skeletal defects syndromeD[\kr Z { ^FURetinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome[qF^m0  &bo&* imMacrophage activation syndromeQSok  1+m+n+.|/S/|1ic[vx?||vjBCranio-cervical dystonia with laryngeal and upper-limb involvement 8@ J /00Familial cylindromatosisNv:Congenitally corrected transposition of the great arteries1[]_cjks{~ <G<A+1(L+_--- -!-=-F-O-e--------01u{:{Ob&"Periodontal Ehlers-Danlos syndrome [ 3f8M/HSD10 disease, atypical typebdChronic pneumonitis of infancy 2 C01b[x~Uq0Chondroectodermal dysplasia with night blindness[; ` .R &0ugJy/PMP22-RAI1 contiguous gene duplication syndrome.?EWyf[]_ow<X 8 ? x 4 DmSN""#C/0| BaABainbridge-Ropers syndrome) <F(@w & 8 Z uA""&%*p+ m!Bannayan-Riley-Ruvalcaba syndrome7b W[Kh,fwz Z h i * J | ~ &N#?* ,(/! H!Hypohidrotic ectodermal dysplasiadGI=R&L&*,^,b01 Sanjad-Sakati syndrome$W[\fy=G U Y ~ X^6x " "" w+Hereditary angioedema with C1Inh deficiencyj I.O./0Z0c>cy9_ +Absent radius-anogenital anomalies syndrome  /a7tcHypothyroidism due to deficient transcription factors involved in pituitary development or function1,a8Gg%~ h*f 5"|"$)+-.0Z1cvvyzyy{M-.X-linked intellectual disability, Cabezas type1BkE9@f<Xw & 1 Z qF"" )*7*p U w|$Greig cephalopolysyndactyly syndrome<\S&1'K,(?'# Polyrrhinia < ,&***,Autosomal recessive dopa-responsive dystonia! 8D~ G [ )9.uoNeuroleptic malignant syndrome6]69q~Qfei  7 U V Y ^ a e S B)9-.0,0Zb9c[z`56Developmental malformations-deafness-dystonia syndrome<\jr Z "\p~ Atypical teratoid rhabdoid tumor,` t0Cleft lip/palate-deafness-sacral lipoma syndrome D !&L/NS6Diffuse palmoplantar keratoderma-acrocyanosis syndrome'X Perioral myoclonia with absences IK C *b+0|5,Congenital bile acid synthesis defect type 18rd ^&fSW#X-linked spastic paraplegia type 34CD v : ,0Parkinsonian-pyramidal syndrome R48C | 8 : ? X.0,zQE Calciphylaxis c Y +r.2 j3Craniofrontonasal dysplasia-Poland anomaly syndrome<MSr x5#&./xFP"ALDH18A1-related De Barsy syndromef(jNon-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome 8 _  5)-/Y Subependymoma H P(>00cuwJ"Best vitelliform macular dystrophy'cs\0 ")Alopecia-intellectual disability syndromeme/[< 1 Z .B L McKusick-Kaufman syndrome~']_dk&- !/u:&8Intellectual disability-epilepsy-extrapyramidal syndrome1@UX]   8 H "*P,P.ucB 2 Trisomy 13;E~Wqr8YdR]_k5w  T Z s5nu& *p+,Pw ~AIntellectual disability-developmental delay-contractures syndrome`w Z mqqs63/Self-improving dystrophic epidermolysis bullosa  !3 %,Z i Q Acalvaria<PR[5 nw6%7Epidermolysis bullosa simplex with mottled pigmentation  .<t  #%*  " Bifid nose<.Spinocerebellar ataxia type 10  C  U]x 8 P \++u4jHereditary orotic aciduriaE<fiko  ; H~Fetal minoxidil syndrome[f]qAEImmune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome;d25D-<Sbcp*2  # U ^ e  ' Xs1 +s/S0i1"bDc#xymyyz`&+_2;Ankyloblepharon filiforme adnatum-imperforate anus syndrome&&Lv.Craniodigital-intellectual disability syndrome[> | 5) Schinzel-Giedion syndrome\/6ENk~<BIQU[dqw Juy AE[5)2GH U Z k D H e |!!&&@&'2()=++Y,. .0$0a11bx+Autosomal recessive malignant osteopetrosis+m9Sio,8d ] U?*W)/)*~{"16p13.11 microduplication syndrome Sf]_d jF FATCO syndrome VZ-  vd6Autosomal dominant Charcot-Marie-Tooth disease type 2F # 0 t u y"#*MlDHereditary persistence of fetal hemoglobin-beta-thalassemia syndromeo .6Hereditary spherocytosis9,o X \~.|b7ct jKDermatomyositisK'Y<=Rz W,- I h i ^ u"#o* *,b--0Z12c[cccu~x 9[\]^h2s b j%4Autosomal dominant Emery-Dreifuss muscular dystrophy+#kEglmk Z E ~ Z k#""#"#%#.ucuxBietti crystalline dystrophy'D[jimu*P,vyww@{( ~Waardenburg syndrome type 1 /m>xL; 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6('Localized epidermolysis bullosa simplex 3 I I * 0bvz c i @PMacrophagic myofasciitis 0ZECleidorhizomelic syndromeyq|"|.Aromatic L-amino acid decarboxylase deficiency&hf#49  1 8 G u 7 )9.coX4t$Charcot-Marie-Tooth disease type 4B2(-?09ER- Z x Ib>"#"#%#]/0ucvvoY Hb Bart's hydrops fetalis co.~b%Wolman diseaseNwo +)pS;$Acute panmyelosis with myelofibrosis,T [./a/o0Zy,zzAtelosteogenesis type III[- Y>ph "3l $Papillary tumor of the pineal regionlS 2 jwC5Biotinidase deficiency&m?r<28K  CjM[o+0 B!Bx ICF syndrome<[q6R`o *80Pen%Laryngotracheoesophageal cleft type 4 A- >  +\%Hereditary hemorrhagic telangiectasia$ >rwco,9Z  h E6HS+3 H;Huriez syndrome=.>G F TARP syndrome7U~<T[fm!>o )_d.)8X Z"#}& &),1uBranchiogenic deafness syndromey0ds"F&C&D&o&,ԁ+Maternal uniparental disomy of chromosome 1?m'T[G Ch&).+iCraniotelencephalic dysplasiaf8);S[t"Lissencephaly due to LIS1 mutation,'(GK H P U u Z f\"*B*C*b*p++..001NNb|~ MG]X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome "Castleman diseaseS Qo. ^p"++./0Z1ab6ux?{ qyRat-bite fever Y o F   Z.J//2b7b9b]bc_y g["Idiopathic pulmonary hemosiderosischc+.9A > k } 0Z0i1b[c.c0cLuiuxnnX.Ulnar/fibula ray defect-brachydactyly syndrome _B\_$d Adult idiopathic neutropeniaS`  R+c/k00y,tEEarly-onset epilepsy-intellectual disability-brain anomalies syndrome!<)@f]  BZ)+,P.u_|*Proximal 16p11.2 microduplication syndrome&6<?9 Z yj!g#%Q&0P1xPZ/Spondyloepimetaphyseal dysplasia, aggrecan type/ff=I z ",(.}Corticobasal syndrome489| 2 M +Zv =i-Benign cephalic histiocytosis+sw b4Temple syndrome38:V  ZqZ""".` wBilateral polymicrogyria,[q5EGK  & pX&)+[. .001jA- 7Osteopenia-intellectual disability-sparse hair syndrome/<qP f S".%,Familial isolated restrictive cardiomyopathygus.*<"0n1wxz?zad|Neurotrophic keratopathy/nx3*H//Z/{02c+X-linked Charcot-Marie-Tooth disease type 2rC J x 0 g t ""#C#],-v|zb MelorheostosisYk \ ] *.* 4Arachnoid cystCn2c %FP$Z   2 Q h  x I Zr,{&(?)P),.\/0011bcv};}F}~GW Caudal regression syndrome>EILSVh6#k)[  / T Z !!E&H.[wf Myhre syndrome/$'//GmE6:00k d *!3"r.1wdDistal monosomy 7q36%[FP {q" &-*0Py &X-linked cerebral adrenoleukodystrophy2=mj 0 _w 2  z &f)**,0vz~|`9q21.13 microdeletion syndrome~}Si[[  Z r D ^"(2 xYHL Idiopathic juvenile osteoporosis ] b*Distal myopathy with anterior tibial onset n"##-#quyF*Palmoplantar keratoderma-deafness syndromeJN1Combined oxidative phosphorylation defect type 27m@KUg H  *e..0cy` TRomano-Ward syndrome m T@0,2AiF!Progressive nodular histiocytosis b&'New-onset refractory status epilepticus% U O P j *Y*]*b+m++,/0Z11Ncxz~zc~B=#Acyl-CoA dehydrogenase 9 deficiency ucglmQg ^ 8 ~  -.c[Ge"Pontocerebellar hypoplasia type 10} C ; u &*nc=`'{$Non-involuting congenital hemangioma cQ*yzB`(Sporadic fetal brain disruption sequence  BMH)*p,P~ Craniolenticulosutural dysplasia"<?GPWf Z \P_ "hX$Undifferentiated pleomorphic sarcoma     0ZvwtSchnitzler syndromeYo I ] i &f*0Z1 b Infantile myofibromatosisM`;  N ^)v/ j Classic mycosis fungoides<= i */ c jihDermotrichic syndromeEo 1 |   ugSpinocerebellar ataxia type 13 m 8C| C#V**bummSevere intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome[@ H *p/1vlJoubert syndrome%qd`(9%$8N Z < F"wr{^FPatent ductus arteriosus-bicuspid aortic valve-hand anomalies syndromekoq"'?.ţPGM3-CDG?8-SVXZ`p3> & i  k y MN!+e,Oz<zzz ] j /*Camptodactyly syndrome, Guadalajara type 1//fE' n | k!g&&&*7.0P?Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency(4F  & 7 "%zTNeonatal hemochromatosis [E 4 |5o;Joubert syndrome with Jeune asphyxiating thoracic dystrophyI/Sn<[fq!,<#z %()3@7%48GV s ^ b Soe 7, "]&')S.../J1u`{(ZMCOG4-CDG!T@CrQ ^ 4 S ""+.0 0;0F g5MPI-CDG59s  0[6 &Severe oculo-renal-cerebellar syndromeS]*/Cf< Zn&)|)(8Aniridia-renal agenesis-psychomotor retardation syndromez[?6S ,N!Mycophenolate mofetil embryopathyV<[m78<dq]%   !g&.^4/Episodic ataxia type 6eF BX-linked intellectual disability-short stature-overweight syndrome%6<Q\89iz{ & UJy"*pcAO Pouchitis  /11}}%l+Spondylometaphyseal dysplasia, Schmidt type[!i Z ) 3 / ")N,,Acrocapitofemoral dysplasia Z \ 5 '(B)SClassic Hodgkin lymphoma  X`o-9 ] h i Z,&f+0Z1c[u+X-linked Charcot-Marie-Tooth disease type 39i+ Z g m""#"#C#gv|~&Fetal cytomegalovirus syndrome=QoG \ ^/S0T|2Thoracic outlet syndrome , ; B I HvUsher syndrome%h!jcgH  ~ :!3!x"*++A|K*Hereditary bullous dystrophy, macular type'<[*  "$,au&d&Mild Canavan disease0C u ,N0[1EPancreatoblastoma   ],Aortic arch interruption 6[]cko{|2 ;A<")*-T-Nuxz){|(}\*j6Spinocerebellar ataxia type 35C & pG Pyruvate carboxylase deficiencyF1 49Ggq p  8  e @WX +.001d111111bHbucx4B?  nd3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome&Sky58CufS ;Vg H > ^ X,.B}Hajdu-Cheney syndromeV/  %&<W[mq!>d70fH]kr'   U Z \ ] DW &f&)*7,)w> j:2Hyperphosphatasia-intellectual disability syndrome>~!/7<B[z5FR}#8Mi  & X Z S"*4*b*p,uQ͛1Infantile LAD-like disease due to RAC2 deficiency" .P*Progressive multifocal leukoencephalopathy#cw  M i I j')5/cw4zbck7Autosomal dominant Charcot-Marie-Tooth disease type 2A2-[EIR_~ 7 J ) Z x 0 > B I n t <b"#C#V#]*M00bvy )9Trigonocephaly-short stature-developmental delay syndromeUfY] &lvw",<nSpinocerebellar ataxia type 37%89wx \ f { Neuroblastoma"68 Qdo2 ] )/...0Zc[c{ |~ADULT syndromeC<= /  sR j/X-linked agammaglobulinemia#Y< QSo( h U P/S0Z2 j^Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement p!7\ Johnson neuroectodermal syndromeD1<d !g)R .Cochleosaccular degeneration-cataract syndromeoSpinocerebellar ataxia type 7 $<UZ`ejJ',Cc   ./0{DCarnitine palmitoyl transferase II deficiency, severe infantile form,uwf  ^ a ~ y ~ {-..0\Ring chromosome 10 syndrome<W[q8< U!& &@Alström syndromeu 6c7$,<ej/68@JWZc0rsuwcl'+,2k  8  ^ m   VuZnb*k !"$&L&(*&*o+A+d+,/ /S11N12<bbc'ccvx{|y|A58Hepatic veno-occlusive disease-immunodeficiency syndrome'QTo4 Q o ! ^ CM)6+m1vvyyAJ}Kuskokwim syndrome y#k[ Z beMAAnophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome /GW!KVkMu Z <#,$w Ge CLN12 disease,489|~ # 0ZbF`Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion3?BUWq%A]_ Z FI13q12.3 microdeletion syndromemi & 6* 0a0i1 uz$Autoimmune polyendocrinopathy type 3/_hFIZ<Z  0 5 ()-/S/ui'+  Rhizomelic syndrome, Urbach type[%`j *"&S&,bUCentral core diseaseZ^fb S ~ < v5F Narcolepsy type 2 87!Fuchs heterochromic iridocyclitisen=ALa&.bbwFwZ{ Z(Idiopathic camptocormia!4 Va D F X t u /011guuRing chromosome 7 syndrome:"/&/BI5Y%MPGH ) - |qI 9"##$&3&&,P0Pu woF?Macrostomia-preauricular tags-external ophthalmoplegia syndrome<Zs,,Jw1q41q42 microdeletion syndrome N FY/'P),P,0?Spondyloenchondrodysplasia4]568YTb*G I 1&b&./S01NNuVu_x}B,Neonatal lupus erythematosus# pw[lyOQSTVdo{&W \ ^--1bcui{6Distal deletion 13q><dP$  x !%sIgG4-related kidney disease:S]i~l: X(6  k OP-ps)+e+s+-/90Z1"10111Nd!yy8yuz1{=~*~,h&&Classic multiminicore myopathy/4 iTbc+ u Z = tg#bvoSnakebite envenomation"qzQdz 7 M > V p#*,[.|0uz9e-Hydrocephaly-low insertion umbilicus syndrome O6dk u*Citrullinemia type I?Fw & ,..'- Tropical endomyocardial fibrosis0huXs.  ++<")----/0Z0n1x1abPuiux?xxz?{k{q{{ZM"MEHMO syndrome6%7T3C 1 " &*p,P0$Benign Samaritan congenital myopathy <U0 L L g+yzCleidocranial dysplasia7/<QT[lmr~ T U Z \ ) q* "u)'))*7+=+. 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B @-+b6bbuigCanavan diseasemj[ 1 H"x6Brooke-Spiegler syndromemtd o(/(0))2*ccy0L d jIb%Basel-Vanagaite-Smirin-Yosef syndromeE/~/<B\q89#@]_5 , & U Z S,!3$$')=*4,P-u}MMAL amyloidosis6MS]dI[g o.  6  + S  !&f(.)+-//0,0Z0n10ac-cuyzz^{k&eB=B> Pachyonychia congenita<I2 BN * ./0bbv<vnx.d hZ+Wound botulism,. ,ZFCAMOS syndromeSd0N$PRUNE1-related neurological syndrome![q@CMg -y 1 Z "#f*p+Y0`w/Non-acquired isolated growth hormone deficiency'7>T ) +1v4FOligomeganephroniaS\]z[mL6V) v&D+/11(1cup,$Mesomelic dysplasia, Kantaputra type[ ^q $fMultiple system atrophy|~   7 >X!(C)(0,1r1~u?x IRkEarly-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome$&BU>u18I P &&*B*C*Y/I/N00`w);Aniridia-cerebellar ataxia-intellectual disability syndrome *lwx>b!.Autosomal recessive spastic paraplegia type 64 7 5722q11.2 deletion syndrome/LYq<BW[mq8FXs 5=D%9p0YfAK]_dikn|%PQ35[ M n  / ; Z U ;nj",<,-01wAsbestos intoxication#p&+. ; > 0b[u~xlxxxzzx{||}~Uq'Temtamy preaxial brachydactyly syndrome07G[qPB0 |q !$%&&&&'}):+F+O,!1V-Lethal congenital contracture syndrome type 1<[f`)   &/&Sa@Cobblestone lissencephaly without muscular or ocular involvement )% = \,P0~:NCongenital myasthenic syndromeC4q5Z^fKLR X u 6 8 B < mu57 #](C)(,.2c9ucxzFJMegalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome<\K]uNWxGordon syndromeDm`[ Z q|Von Hippel-Lindau disease)<6=Gfzm  l N  Z *\ E#]%%&#-.2vvvqF8ISpinocerebellar ataxia type 30 [r.Autosomal recessive spastic paraplegia type 43 D n mBb1$Congenital generalized lipodystrophy%&/P3JWlrucg)kr 4 !"#(,/xLGMacrodactyly of fingers"(//?15q11.2 microdeletion syndromeQy[]_d| 2 B(j)lB5GM1 gangliosidosis type 15Wmqj0f H \ | 5 $!"g"l")..01aB-p\$Limited cutaneous systemic sclerosis, %^ jE)%Dyschromatosis symmetrica hereditaria4,1B5Episodic ataxia type 3hS  kA'MERRF K ~  Trisomy 12pO%<[q> d |qux& 0PwS Tetralogy of Fallot  Qdqs&HydranencephalyYajGH*o!"#)*,@,ab bcB-W2Hao-Fountain syndrome due to 16p13.2 microdeletion56m!5'@M[i3G 8 Z :j"B")'/01bHcf wB$Lissencephaly due to TUBA1A mutation4a(:;GN =M01jb bc| @ Tularemia& qQo*2A ),[/1b7bc>c_uaxqxz<|q Z-YMitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaG /X50Congenital total pulmonary venous return anomaly(]_hkqsu),2 ;?<=&M--(----00Z1xxxNDistal duplication 14q mk5 d* pNPolyneuropathy-intellectual disability-acromicria-premature menopause syndrome#, T  $-tBeckwith-Wiedemann syndromeUILbipy /5Ijkm5JTs.Vghmfw  h k + D pon{X!K!!"&)',./:1v/wx{ '.Loeffler endocarditiscruv{ X.*x--0Z1bPcz?z[zczPzDistal arthrogryposis type 1 k.[ $)=F.Hereditary hyperferritinemia-cataract syndromel Sub-cortical nodular heterotopia,0CNV *[+~4Progressive non-infectious anterior vertebral fusionb7<B[0k Z ] y #0P1 -Baraitser-Winter cerebrofrontofacial syndrome=H~%3<W[Ld}L0;kHNr  M Z \ uo&)!*./}2iw&1Combined immunodeficiency due to ZAP70 deficiencydXb*  i M'.#((, z V Ependymoma H P(>00cuwHX-linked intellectual disability with isolated growth hormone deficiency:8 +),N-0vJWaardenburg syndrome type 3m>E'k_ ):*4,d~ Indolent systemic mastocytosis +q,Z0iaz4z|}hKPleural mesothelioma (.27 c+1b6yAh~4Blepharophimosis-ptosis-epicanthus inversus syndrome !E,aT,Progressive myoclonic epilepsy with dystonia.48KU H X".b@ `Lambert syndrome/t]&BE^%Fibular aplasia-ectrodactyly syndromeV\Bacterial toxic-shock syndrome< Sc Y-qQ*2g O  7  U   ,[../S02b7c_du5z)z{|x}}}}2jMicrotriplication 11q24.1&<?Bfm3>F ]`0 Z ) q'&+Z.. ww*3Pterin-4 alpha-carbinolamine dehydratase deficiency 9 e(;")91^:Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome'R4pgmj| ) ^b&f*0701blb >Difference of sex development-intellectual disability syndrome.Bfr ) | !g!" (B)Qd%Triose phosphate-isomerase deficiencyg a*s3Palmoplantar keratoderma-spastic paralysis syndrome 0 m &f)3o5#Grubben-de Cock-Borghgraef syndrome7P#: wRDubin-Johnson syndrome 8p \/60Zb .Autosomal recessive distal osteolysis syndrome G &.YC!Persistent idiopathic facial pain  I 0b}K +Neutropenia-monocytopenia-deafness syndromeR*9Brachydactyly-short stature-retinitis pigmentosa syndrome.Uk[q"12c'S<]H &'A* .uvc +Encephalopathy due to prosaposin deficiency 48-JOculocutaneous albinism type 5eJSF6Autosomal dominant Charcot-Marie-Tooth disease type 2Y+#.X]v 2 7 x z 0 B I n kmu b"#"#%#C#V#]#*Nuc Chikungunya3eYjkd O I NN1;&f)*//0Z1b7bbbxrxwxy}?N eMosaic trisomy 16+/Uwmn V[]_k() {&2&H+,,-x0Tu{u_%Inflammatory pseudotumor of the liver38r  P c>uiy||CchfSerrated polyposis syndrome - . kE/]/x YCADDS[C4tG ^ |uk`%Secondary intestinal lymphangiectasia(r`s     0 i "  J^-.H.|///0Z0ym{}@}~}j)Adult-onset cervical dystonia, DYT23 type8RH * 4 C/2]b #Charcot-Marie-Tooth disease type 1A] x I g xu##*Q*wxrQAntisynthetase syndrome*I,Y]H{,-. h 12x_abcdefghiG. 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Z 1Ngc>c_z)I)Arterial dissection-lentiginosis syndromeWMalariaOQo2] X +DAutosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome8C 7 H q Mycetoma e   Z')6.D/buez8{ { )Ԇ2q31.1 microdeletion syndrome?&<DW[q8LMd`;]_<GH Z ^qo'K1 90Microcephalic primordial dwarfism, Montreal type[fCr 1 Z ^ /5G%*7,bVz"Pediatric hepatocellular carcinoma s -n0Zv"A(Intellectual disability, Birk-Barel type! !BRU[ 'R Ze *4+I.0uu`Cerebrotendinous xanthomatosis[59^r%04C(g{   Q w c  ~ m@=P.jXhGn!D&S&f)"*z../+0[1112`x{e u}Pituitary apoplexy)en"/68M_fl g # 7 M V i . 5,-0Zw9wwx58 Classical Ehlers-Danlos syndromeB"')13,jVbu 8 Z BPScG&#))*0Z0aacu9z{wBoomerang dysplasia8   \/"(N.IlH+Fragile X-associated tremor/ataxia syndrome "56, H 2 ; / 7  &f0,0vpDSpinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome( t"FPrimary orthostatic tremor9 B  Lead poisoning>|670Vo3 2  E Ubgj &f/0Z1N12@uByRz}r= Deafness-oligodontia syndromeg  Meacham syndrome>U]_dkr5/" *+u:ba"Hypotrichosis simplex of the scalp   y bCholestasis-lymphedema syndrome8r ]  &.0ZLPrimary basilar invaginationXH ~N !Tubular aggregate myopathy B gu+Maternal uniparental disomy of chromosome X>[wc.r Z d r  Huntington disease448C  ]y  $ 2 G  # 8b#**c9xzxz{e|c|e m!Lethal faciocardiomelic dysplasia4k< h$&26sABeta amyloidosis, Arctic type EU'+X-linked sideroblastic anemia ,o. ^+0ZDIsolated anencephalyC&H)v$A Hereditary elliptocytosis9UV X ]^_~"0Zb7 jr 1q21.1 microduplication syndrome/<id j=Erythrokeratodermia variabilis#m3 ;<= *1wrn*Histidinuria-renal tubular defect syndromeWGH o!r.Autosomal recessive spastic paraplegia type 25 ? Q > ! 00xqhScleromyxedema(M0Z(  ; ~ u0w!=+,Z..>cueuxxyG bPrimary biliary cholangitis)4Zrswz 8 0 5  \  / 4 S "+ ./S/0Zux԰"6q25.2q25.3 microdeletion syndrome <W[fyF'M.G q1_wl4Atrophoderma vermiculata"2+3JN[*+t01=Hepatic fibrosis-renal cysts-intellectual disability syndromekfl7E-G 4 |qF5q&MELASW,]apr<DN35=,08Afglo,HWg  1 2 M a  j 8 ~ %%Z |&f***,0011b{:+o{.Sporadic infantile bilateral striatal necrosis&*R04C   "#f+c_uv`rBMale infertility with teratozoospermia due to single gene mutationvE!"./2@2DNc"Caudal appendage-deafness syndrome !,!9Silver-Russell syndrome due to 7p11.2p13 microduplicationB3BDEKFP q""&,N, LUlbright-Hodes syndrome,$Yq [qy+os)2; > _!!""&H&e'A,MtCongenital tracheomalacia-AIV[]_dhk)*,-.18;>  S t(C*-F..11xlxxz }~cVascular Ehlers-Danlos syndrome_/<3Pg61]^f.<Vbvd-9;   9 ; R W TINSj|G&(N)'))+0P1w%nRz&X-linked endothelial corneal dystrophy5I,c+Congenital central hypoventilation syndrome - [nBardet-Biedl syndrome_ LUdw~<Wfm$',ej256WZ0fsu[f3kw 0 ^ 8Z """ ")++0`1N1d[u:~B2Skeletal dysplasia-epilepsy-short stature syndrome/i 1 Z \ 2 &}Laubry-Pezzi syndrome]ckow{ ;j0-}--0Z1wc{O{Typhoid9C O H-0Z11|22q23.1 microdeletion syndrome Qi$< 8 q" *4*plkpBathing suit ichthyosis 0< $7 *M0bO 'Autoimmune lymphoproliferative syndromeFSc*VYzX`bdpA  I o " # J k }  ){)+c+m/S///00uxy,zz&(+Rolandic epilepsy-speech dyspraxia syndrome0K  (<+Z++z{t Dengue fever>QZ 7 lKPfeiffer syndrome type 2#<\q<`A2  j  t |%'K'},( wSLCAT deficiency S]Vk = =/|7lHarlequin ichthyosisl`m%-0l]!Rapid-onset dystonia-parkinsonismR |   /| CFamilial papillary thyroid carcinoma with renal papillary neoplasiaU O jOn.0-_oPseudohypoparathyroidism type 2 Ty U Y ] B I ,/'Neuroectodermal melanolysosomal disease!K)09H  J{/}mM&-X-linked intellectual disability, Shashi type 5PE &bh*Bilateral acute depigmentation of the iris Qe 6b,0T1W1Z ZPlague7m,FYqd29 7 #&S,[,-./0ZNtaab7c_xz|x4 jD[Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome&z)<Da@MfiG Z qo+'G),00d`2Z5 Tritanopia(e/ wx<(Hypocomplementemic urticarial vasculitis/S]*#Y]v+.19 i O&f.19ol/Spondyloepimetaphyseal dysplasia, Missouri type )Yc_Glossopharyngeal neuralgia EI~ 9 h +.0ux.x[}+} Y -!Pontocerebellar hypoplasia type 15,CH . ^ > ./NAbruzzo-Erickson syndrome/7Md_' "'$)0PInfantile neuroaxonal dystrophy4j4C[  9 H > M t =PX"&f)1./ 0,11bc[xzz~f&Angioosteohypotrophic syndrome IH`&`(.1b? KIntellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome/G & E w (""#.2 +I$Bilateral perisylvian polymicrogyria1[m(0CE[ 8  Q X 4py"*8+-....0Nvo~Ad Functioning gonadotropic adenoma""78>E_gc A , 5!&--/0ZuBu  Trisomy 8pA6y~<fFPyL d5H5r |qQ`i8w!&'2*p*,-..1uRV{{Zebra body myopathy' ? u)2czA2Cardiomyopathy-cataract-hip spine disease syndrome6kcgv \ D*-dFeingold syndrome type 2]s&21y Nocardiosis4?lBv *.1269; O   >,0Z0b7uauz zz<|x}}&2 Ze%Thoraco-abdominal enteric duplication s- 5>&Congenital respiratory-biliary fistulap J&Gonadoblastoma > !""u /O;X-linked alpha-thalassemia-intellectual disability syndrome9 %>M~<!j[koH M O q" "(*4*6,@..~0P1lLegius syndrome%mZ04bj Z kqj%t(udv}MB%I=Autosomal recessive cerebellar ataxia due to STUB1 deficiency6mZ5lFQ)C< w|~ * 2 J wmZ*O+Z,/H/N112`+{#Familial cervical artery dissection6)Z  M M I Ph)/~/b.X-linked complicated spastic paraplegia type 1  & { /Microphthalmia-microtia-fetal akinesia syndromeH[8`k |!g" &-*[Waardenburg syndrome type 2 MmL>|REthylene glycol poisoning,S|Z6 8Fcqyi  7 U 8!)+uxz)|d||W#Fuchs endothelial corneal dystrophy <,,,xZ66Terminal osseous dysplasia-pigmentary defects syndrome<d[<uw Zs#(B0abmcuyLaron syndrome[\P27T' 4 G" &L&S&&H99Multiple congenital anomalies-hypotonia-seizures syndromeV"H~ %4<?^5F9CO_kw ,4G  8 | Iin!g!!""#"(*(3)0*4*+,,E,P0a wNon-distal duplication 10qO<[\fEf Z d |xw1Combined oxidative phosphorylation defect type 13! ,@Vg  u B"*,.0   Kapur-Toriello syndrome;fq8d]dkN M" d/9Congenital myasthenic syndromes with glycosylation defect$ [f 7 u Z z ~ < ? B K ku#D#V)uuu{b$Congenital tricuspid valve dysplasiaVhw ><*0wzz{Steinert myotonic dystrophylZ"/38JWc9',0E<l-H 6 > ^ n 4 mu%bk"B"#C#&f***4*,.//R/0Z2c2e2gbQbuvowz{: A{ZCOObesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndromeSSh  < hLowe-Kohn-Cohen syndromep1r\*Polymicrogyria with optic nerve hypoplasiaa'@N =M,P0u`.Microcephalic primordial dwarfism, Dauber typeYiG q|!g""&b*p264Autosomal dominant deafness-onychodystrophy syndrome \!  !&21   `Pyoderma gangrenosum3Z / )0$ b e g j&SPECC1L-related hypertelorism syndrome'1V7<W]q>]_dk' |qs()++-Hypertrichosis cubiti7D\>f0f M "&S)!+qSSR4-CDGU 3]Zk Z +,K.| Thymic neuroendocrine tumorf M . Rto!  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