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AMER101^1_)>VPS51  *01^1_)>H]MAGT1  Z*+ 1^1g|5))APERPZ1^|5)%ZREST Z|5) 1FOS21^.PALS1201^1_7 xHNRNPU Z01^1_|5)B:ACTA1  Z*1^1_1g|5)+#dPAPSS22 *1g)eLHFPL5)~BCO1)8sGATAD2B Z01^1_|5)nF9)6TRPV4 Z01^1_|5)/vMAP3K12`01_),GSLC4A11 Z|5)-"GBF1 Z1^1_|5);(TUBB4A  Z01^1_|5)IMMUT Z*01^1_1g|5)"YPALLD2 ))!IRS22 Z|5)CMCCDC65  Z*01^1_1g|5)HPNP Z*+ 01^1_1g|5)@fSELENON  Z*1^1_1g|5)"J l6Vertebral, cardiac, renal, and limb defects syndrome 2M-z9Camptodactyly-Arthropathy-Coxa vara-pericarditis syndromea kBMDystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' /Friedreich ataxia 2@ i ,Rhizomelic chondrodysplasia punctata, type 5c&@OAnemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism4 g Familial adenomatous polyposis 30 iPremature ovarian failure 12$ kVOptic atrophy 11C/Tremor of intention, ataxia, and lipofuscinosisT@Leukemia, acute myelocytic, with polyposis coli and colon cancer$Perlman syndromeZ nFOsteochondrodysplasia, brachydactyly, and overlapping malformed digitsD oS0Myasthenic syndrome, congenital, 25, presynapticC 5/Hemophagocytic lymphohistiocytosis, familial, 23 FMicrophthalmia, syndromic 6`9%Renal dysplasia-limb defects syndrome4 M Deafness, autosomal recessive 53B f.Spinocerebellar ataxia, autosomal recessive 178 s$Portal hypertension, noncirrhotic, 2$Elejalde diseaseN:Short-rib thoracic dysplasia 9 with or without polydactylyC _/Surfactant metabolism dysfunction, pulmonary, 5! t Zaki syndrome+ (WBardet-Biedl syndrome 3R ]>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9; cF'Lipodystrophy, familial partial, type 5F i2Split-Foot malformation with mesoaxial polydactyly*UBaller-Gerold syndrome'Immunodeficiency 48K il7Muscular dystrophy, limb-girdle, autosomal recessive 255Zf!Cystinosis, adult nonnephropathicH4Olivopontocerebellar atrophy II, autosomal recessiveO O;Diabetes mellitus, neonatal, with congenital hypothyroidism4#. Spinal muscular atrophy, type IVD [a0Diarrhea 5, with tufting enteropathy, congenital+ +Usher syndrome, type ID1VRenal hypodysplasia/aplasia 1'= Ichthyosis vulgarisAӦ)Methemoglobinemia and ambiguous genitalia' cNephronophthisis 16G s3Mitochondrial complex I deficiency, nuclear type 37M H9Deafness, congenital neurosensory, autosomal recessive 40. iLOocyte maturation defect 2l jXEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 17k#Mitochondrial complex II deficiency> n*Isolated growth hormone deficiency, type V= s)Immunodeficiency 14B, autosomal recessiveF i2Retinitis pigmentosa and erythrocytic microcytosis2 *D-2-Hydroxyglutaric aciduria 1l TTDiarrhea 3, secretory sodium, congenital, with or without other congenital anomalies4 Ps Deafness, autosomal recessive 68( AKufor-Rakeb syndrome' rLi-Campeau syndrome3Pyruvate carboxylase deficiency8 t5$Immunodeficiency 87 and autoimmunity"Refsum diseaseA k-Epileptic encephalopathy, early infantile, 52` s*LNeurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia0 ENiemann-pick disease, type BPwEncephalopathy, acute, infection-induced, susceptibility to, 9R>Dentin dysplasia, type I, with microdontia and misshapen teethP qNeuropathy, congenital hypomyelinating, 1, autosomal recessivec tOCholestasis, progressive familial intrahepatic, 7, with or without hearing lossH h54Mitochondrial complex IV deficiency, nuclear type 13R _D>Encephalopathy, acute, infection-induced, susceptibility to, 4@ h,Charcot-Marie-Tooth disease, axonal, type 2XK c7Muscular dystrophy, limb-girdle, autosomal recessive 188 $Cardiac valvular dysplasia, X-linkedlRXAdrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency9 g%Trichothiodystrophy 3, photosensitiveo cw[MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13+*6Teebi-Shaltout syndrome\,HArthrogryposis, distal, with mental retardation and characteristicfacies,-Glanzmann thrombasthenia2pSplit-Hand/foot malformation 6"oLEctopia lentisA b-Microcephaly 10, primary, autosomal recessive$ hRoifman syndrome"Krabbe disease> by*Spastic paraplegia 54, autosomal recessive- jMyopathy, myofibrillar, 7,8Aland island eye disease+9Usher syndrome, type ICX c3DHydrocephalus, congenital, 2, with or without brain or eye anomaliesO u;Intellectual developmental disorder, autosomal recessive 77E M1Spastic paraplegia, optic atrophy, and neuropathy6 T"Glycogen storage disease 0, muscle% eSeckel syndrome 8M Z=9Hemolytic uremic syndrome, atypical, susceptibility to, 5 , iSpermatogenic failure 15' ULong QT syndrome 10 5 L!Filaminopathy, autosomal dominant e udQNeurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures' gImmunodeficiency 391 Pulmonary hypoplasia, primaryU ^AMitochondrial complex V (ATP synthase) deficiency, nuclear type 2N q3:Respiratory papillomatosis, juvenile recurrent, congenital< g^(Lethal congenital contracture syndrome 7L t8Gastrointestinal defects and immunodeficiency syndrome 27 N#Bleeding disorder, platelet-type, 87Ov#Complement component c1r deficiency4\ Deafness, autosomal recessive 1A2 B+Ciliary dyskinesia, primary, 23GtCholestasis-Lymphedema syndrome/ nCardiomyopathy, dilated, 2Cc WOHemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathyH\<4Dandy-Walker malformation with postaxial polydactyly] uDIIntellectual developmental disorder with or without peripheral neuropathyD b"0Combined oxidative phosphorylation deficiency 14N _:Myopia, high, with cataract and vitreoretinal degeneration3?,Cenani-Lenz syndactyly syndrome( Z4Zechi-Ceide syndrome??r+Cerebellar ataxia and neurosensory deafnesst jn\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 ) kAnauxetic dysplasia 2 lqNeurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures8 a$Interstitial nephritis, karyomegalic< p2(Trichothiodystrophy 7, nonphotosensitiveD c0Combined oxidative phosphorylation deficiency 16= gZ)Spastic paraplegia 73, autosomal dominant E K 1Salt and pepper developmental regression syndromer^Amino aciduria with mental deficiency, dwarfism, muscular dystrophy,osteoporosis, and acidosis5 r!Deafness, autosomal recessive 117> _*Mental retardation, autosomal recessive 28" ]C1q deficiencya lMEncephalopathy, neonatal severe, with lactic acidosis and brain abnormalities0Odontoonychodermal dysplasia3 bArthrogryposis, distal, type 5D] otINeurodevelopmental disorder with central and peripheral motor dysfunction9 \%Epilepsy, familial adult myoclonic, 3 H r/4Mitochondrial complex IV deficiency, nuclear type 121XGaucher disease, type III pnNeurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomaliesX0@Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 8 ^$Phosphoserine phosphatase deficiency4! Spastic diplegia, Infantile typeC|/Fibromatosis, gingival, with distinctive faciesUP>AContractures, congenital, torticollis, and malignant hyperthermia> ^*Spastic paraplegia 47, autosomal recessive4 ` Deafness, autosomal recessive 96> cv*Mental retardation, autosomal recessive 360Genitopalatocardiac syndrome7 t#Pontocerebellar hypoplasia, type 166 b9"Pontocerebellar hypoplasia, type 73 Y*Ciliary dyskinesia, primary, 12H ^4Methylmalonate semialdehyde dehydrogenase deficiencyD n0Myasthenic syndrome, congenital, 23, presynaptic8 T$Osteopetrosis, autosomal recessive 4(1Hypomelanosis of itoO n7Muscular dystrophy, limb-girdle, autosomal recessive 23 @ dB,Charcot-Marie-Tooth disease, axonal, type 2REr1Microcephaly with cervical spine fusion anomalies) OCone-Rod dystrophy 10@ 1!,Ectodermal dysplasia 8, Hair/tooth/nail type"28Graves disease& ]8Long QT syndrome 2 # `Hyperekplexia 36#"Acrocephalopolydactylous dysplasia(Septooptic dysplasia  GALACTOSEMIA8t$Immunodeficiency, common variable, 2A d4-Epileptic encephalopathy, early infantile, 18*$Retinitis pigmentosa 606Palant cleft palate syndrome+fSpermatogenic failure 1I 5Absent eyebrows and eyelashes with mental retardationF$2Spondyloepimetaphyseal dysplasia, Sponastrime type )< TAURODONTISM(NEPHROSIALIDOSIS4 d Asparagine synthetase deficiencyH,4Arthrogryposis, renal dysfunction, and cholestasis 1= /)Amyotrophic lateral sclerosis 5, juvenile, e^Oocyte maturation defect0Periodontitis, aggressive, 1; t'Yoon-Bellen neurodevelopmental syndromeB /.Deafness, neurosensory, autosomal recessive 18' aImmunodeficiency 29\9HAmyotrophic lateral sclerosis 15 with or without frontotemporal dementia . @Smith-Lemli-Opitz syndrome#4Cousin syndrome+ XRetinitis pigmentosa 46< b(Lethal congenital contracture syndrome 4D g0Hypomagnesemia, seizures, and mental retardation< t(Trichothiodystrophy 8, nonphotosensitive6 W"Leukodystrophy, hypomyelinating, 4$jRudiger syndrome< >(Dimethylglycine dehydrogenase deficiency(Ocular motor apraxia6 sQ"Dysostosis multiplex, Ain-Naz typeY aEShort stature, onychodysplasia, facial dysmorphism, and hypotrichosisI U5Renal tubular acidosis, distal, with hemolytic anemia@-(Thanatophoric dysplasia, glasgow variantB K*Spastic paraplegia 27, autosomal recessive 0Carey-Fineman-Ziter syndrome& ugMeckel syndrome 14/Type I hyperlipoproteinemia46 Vasculitis, lymphocytic, nodular6 d"Infantile liver failure syndrome 1? ue+Dentici-Novelli neurodevelopmental syndrome' TImmunodeficiency 35, f3Bardet-Biedl syndrome 1012\Atrichia with papular lesions5 e!Deafness, autosomal recessive 1012 R$Ciliary dyskinesia, primary, 6]tIMale infertility with large-headed, multiflagellar, polyploid spermatozoaH `4Leukoencephalopathy, brain calcifications, and cysts5vT!Epiphyseal dysplasia, multiple, 4^ 5GJHypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss5!Opticocochleodentate degeneration] MwITalo-Patello-Scaphoid osteolysis, synovitis, and short fourth metacarpals- \Fetal encasement syndrome3 AAmyotrophic lateral sclerosis 3 : ^*&Alopecia-Mental retardation syndrome 34 Oi Deafness, autosomal recessive 49" 3CDAGS syndrome-bLymphokine deficiency+ڽMucolipidosis III gamma>B`*Basal ganglia calcification, idiopathic, 1 " _:Rafiq syndrome o`}Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency9 9%Charcot-Marie-Tooth disease, type 4B2' l*Immunodeficiency 521 E3Camptosynpolydactyly, complextZI`Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardationL s8Ondontochondrodysplasia 2 with hearing loss and diabetes+ WERetinitis pigmentosa 296 a{"Heterotaxy, visceral, 6, autosomal? Ic'Ribose 5-phosphate isomerase deficiency, nkSpermatogenic failure 29_ 2bKDistal renal tubular acidosis 3, with or without sensorineural hearing loss& hHeimler syndrome 2q p~]Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies+ \PFrontonasal dysplasia 3" Z93-M syndrome 2^ rDJNeurodevelopmental disorder with microcephaly, seizures, and brain atrophyD{0Hypogonadotropic hypogonadism 23 without anosmia2qEncephalomalacia, multilocularI fg5Charcot-Marie-Tooth disease, recessive intermediate DI *5Scid, autosomal recessive, T-Negative/b-Positive type\ aPHGlucocorticoid deficiency 4 with or without mineralocorticoid deficiencyA IR-Lipodystrophy, congenital generalized, type 11Kniest-Like dysplasia, lethalI r5Neuropathy, hereditary motor, with myopathic featuresH ^4Chondrodysplasia with joint dislocations, Gpapp typeU J)ALeukoencephalopathy, arthritis, colitis, and hypogammaglobulinema" bSteel syndrome# SfHamamy syndrome&Urofacial syndrome4 Z Deafness, autosomal recessive 77A j-Epileptic encephalopathy, early infantile, 446(H"Microphthalmia with limb anomaliesE1Very long-chain acyl-CoA dehydrogenase deficiencyn DZHypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degenerationA p-Epileptic encephalopathy, early infantile, 82\x@Intrinsic factor and R binder, combined congenital deficiency of2 \ Fanconi renotubular syndrome 2: /&Ectodermal dysplasia 4, Hair/nail type> _*Mental retardation, autosomal recessive 230 /Hypomagnesemia 1, intestinalZ tFNeurodevelopmental disorder with hyperkinetic movements and dyskinesia' sJoubert syndrome 38C U/Combined oxidative phosphorylation deficiency 5Bw.Facial dysmorphism with multiple malformations9 C%Moyamoya disease 2, susceptibility toB a.Spinocerebellar ataxia, autosomal recessive 13= s)Cutis laxa, autosomal recessive, type IIE9&:%Striatonigral degeneration, infantileh+TTetramelic deficiencies, ectodermal dysplasia, deformed ears, andother abnormalities7:J#Brown-Vialetto-Van laere syndrome 19@ TYROSINOSISD1,Thyroid hormonogenesis, genetic defect in, 5, jSpermatogenic failure 17I J5Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiencyaSIALURIA5 fj!Deafness, autosomal recessive 103> ]*Complement component 8 deficiency, type IIN tX:Heterotaxy, visceral, 11, autosomal, with male infertility00Shwachman-Diamond syndrome 1' ^Perrault syndrome 33 v Intestinal dysmotility syndrome> N*Cataract, autosomal recessive congenital 2A bn-Ichthyosis, congenital, autosomal recessive 7> n*Mental retardation, autosomal recessive 66! Mohr syndromeU#ASpinal muscular atrophy with microcephaly and mental subnormalityB q.Combined oxidative phosphorylation defiency 46!zPYGMY27 a2#Ceroid lipofuscinosis, neuronal, 117x#Keratoconus posticus circumscriptusO ^;Intellectual developmental disorder, autosomal recessive 14$OpsismodysplasiaK h(7Neuropathy, hereditary sensory and autonomic, type VIII#Achromatopsia 39V%Holocarboxylase synthetase deficiency> _*Mental retardation, autosomal recessive 25 ioMetabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration5 p!Rothmund-thomson syndrome, type 17#Endometriosis, susceptibility to, 1B g .Spinocerebellar ataxia, autosomal recessive 18S?Pelger-Huet-Like anomaly and episodic fever with abdominal painQ M=Obesity, early-onset, with adrenal insufficiency and red hairH >43-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency.Phenformin 4-hydroxylation? o+Body mass index quantitative trait locus 20L8Retinopathy, pericentral pigmentary, autosomal recessive_nKEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive,Renal tubular dysgenesis) CwAnauxetic dysplasia 192%Mercaptolactate-Cysteine disulfiduriaH a]4Hyperphosphatasia with mental retardation syndrome 2> h*Spastic paraplegia 75, autosomal recessived PPEncephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 12 dComplement factor B deficiency4 Mucopolysaccharidosis, type IIIDQ o=Brain abnormalities, neurodegeneration, and dysosteosclerosis-hvDohle bodies and leukemia' rImmunodeficiency 77 , t}Spermatogenic failure 599S%Cranial nerves, congenital paresis ofi gUMyasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency) 'SPONDYLOCAMPTODACTYLY7 n#Leukodystrophy, hypomyelinating, 174 N Deafness, autosomal recessive 55F2Visceral neuropathy, familial, autosomal recessive&=Immune suppression ";:Cahmr syndrome] sEINeurodevelopmental disorder with cerebellar atrophy and motor dysfunctionF u 2Epidermolysis bullosa, junctional 3A, intermediateF o.Spinocerebellar ataxia, autosomal recessive 27 ) ffNeu-Laxova syndrome 2f RRPseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, tASpermatogenic failure 58b B4NMental retardation, obesity, mandibular prognathism, and eye and skinanomaliesB i|.Congenital disorder of glycosylation, type IIOW cdCCerebellar ataxia, mental retardation, and dysequilibrium syndrome4G p3Oculopharyngeal myopathy with leukoencephalopathy 1 H r54Mitochondrial complex IV deficiency, nuclear type 174 Wiedemann-Rautenstrauch syndrome- uBraddock-Carey syndrome 2og[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 92%Richieri-Costa/guion-Almeida syndromefRGranulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I> _*Mental retardation, autosomal recessive 29%Fountain syndrome8t$Osteopetrosis, autosomal recessive 14 -* Deafness, autosomal recessive 128 f$Aortic aneurysm, familial thoracic 9 + [sFactor XIIIB deficiencyM =9Cardiomyopathy, dilated, with woolly hair and keratoderma< _(Alpha-methylacyl-CoA racemase deficiency& cImmunodeficiency 8# ,Harrod syndrome)!Spastic paraplegia 23N t:Dyskinesia with orofacial involvement, autosomal recessiveO [H;Intellectual developmental disorder, autosomal recessive 13W ogCPolymicrogyria with or without vascular-type ehlers-danlos syndromeG u3Glycosylphosphatidylinositol biosynthesis defect 25@,Growth hormone deficiency, isolated, type IA.:Van bogaert-hozay syndrome> t*Spastic paraplegia 85, autosomal recessive4 XQ Deafness, autosomal recessive 45Bx.Nephropathy, deafness, and hyperparathyroidism& 6Long QT syndrome 3 5 ^-!Acetyl-CoA carboxylase deficiencyJ o&6Fibrosis, neurodegeneration, and cerebral angiomatosis, DBartter syndrome, type 3 HGrowth failure, microcephaly, mental retardation, cataracts, largejoint contractures, osteoporosis, cortical dysplasia, and cerebellaratrophy4 ]5 Deafness, autosomal recessive 83=q)Microphthalmia, isolated, with coloboma 4u DaThiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)%Pancreatic cancer 0 ]Leber congenital amaurosis 81 ULeber congenital amaurosis 10A J-Pyruvate dehydrogenase phosphatase deficiencyC ,/Atrophia maculosa varioliformis cutis, familial$Sandhoff disease> g*Mental retardation, autosomal recessive 473 oHydatidiform mole, recurrent, 3+ rBaralle-Macken syndromeM ,9Osteoporosis and oculocutaneous hypopigmentation syndromeA b-Congenital disorder of glycosylation, type Iu0 fPoretti-Boltshauser syndrome2;Von willebrand disease, type 3, rVSpermatogenic failure 45 aHypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes4n Spinal muscular atrophy, type II9 `W%Spastic ataxia 5, autosomal recessive8$Osteopetrosis, autosomal recessive 56 d"Myopathy with extrapyramidal signs/*Navajo neurohepatopathy > h*Spastic paraplegia 74, autosomal recessive>6*Histidinuria due to A renal tubular defect  GALACTORRHEA' nJoubert syndrome 35"3MC syndrome 3>F*Diarrhea 1, secretory chloride, congenitalB m.Multiple mitochondrial dysfunctions syndrome 6..Aspartylglucosaminuria8 k$Bleeding disorder, platelet-type, 21>*Hyperinsulinemic hypoglycemia, familial, 1A h-Microcephaly 16, primary, autosomal recessive8($Malonyl-CoA decarboxylase deficiency! ,~ Naxos disease@1p,Thyroid hormonogenesis, genetic defect in, 4R i>Microcephaly, congenital cataract, and psoriasiform dermatitis n Diarrhea 9U ^AMitochondrial complex V (atp synthase) deficiency, nuclear type 3[ 1RGSevere combined immunodeficiency with sensitivity to ionizing radiationH4Popliteal pterygium syndrome, Bartsocas-Papas type 17 k#Cone-rod dystrophy and hearing loss?+INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO2Pyropoikilocytosis, hereditary.5-@oxoprolinase deficiency.jOsteopenia and sparse hairI Q5Neutropenia, severe congenital 3, autosomal recessive2 gkLipoyltransferase 1 deficiencyL i8Spinal muscular atrophy with congenital bone fractures 1S D?Vitamin K-dependent clotting factors, combined deficiency of, 2/ 85Chudley-Mccullough syndrome= q)Immunodeficiency 72 with autoinflammationA h-Epileptic encephalopathy, early infantile, 34_ IGNeuropathy, hereditary sensory and autonomic, adult-onset, with anosmia 3 dPCiliary dyskinesia, primary, 27+ (DRetinitis pigmentosa 14: A@&Homozygous 11p15-p14 deletion syndrome4 Y% Deafness, autosomal recessive 1B: 4"Pseudouridinuria and mental defect% lFraser syndrome 3A g-Epileptic encephalopathy, early infantile, 29(fDihydropyrimidinuria'xNemaline myopathy 3* n%Tetraamelia syndrome 2' hJoubert syndrome 24#Optic atrophy 64+ Tetraamelia, autosomal recessive H BRADYOPSIA5 [!Hypermanganesemia with dystonia 1I n5Muscular dystrophy, limb-girdle, autosomal dominant 4 7 s%#Pontocerebellar hypoplasia, type 144Miyoshi muscular dystrophy 1 U qvASkeletal dysplasia, mild, with joint laxity and advanced bone ageK Q(7Hypoaldosteronism, congenital, due to CMO II deficiency6 r"Oculocutaneous albinism, type VIIIR C>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 50 kPremature ovarian failure 130 ,Odontomicronychial dysplasia@ Y,Interleukin 1 receptor antagonist deficiency: [u&Glomerulosclerosis, focal segmental, 5 0Gerstmann-Straussler disease + ndPeeling skin syndrome 6? B+Vascular malformation, primary intraosseous5!Ghosal hematodiaphyseal dysplasia.Glycogen storage disease VN _:Short-Rib thoracic dysplasia 5 with or without polydactylyUAAdrenal hyperplasia, congenital, due to 21-hydroxylase deficiencyF [[2Amelogenesis imperfecta, hypomaturation type, iia32gLactase deficiency, congenital+ tBoudin-Mortier syndromeB q5.Triokinase and FMN cyclase deficiency syndrome& (Fryns macrocephalyA c-Epileptic encephalopathy, early infantile, 16Y sEEncephalitis, acute, infection (viral)-induced, susceptibility to, 11- LSpinocerebellar ataxia 26 5 o!Deafness, autosomal recessive 1000 OAicardi-Goutieres syndrome 2' eNephronophthisis 18%̨Meckel syndrome 1, tSpermatogenic failure 57,2Mandibuloacral dysplasia4Oculorenocerebellar syndromeL a8Hypogonadotropic hypogonadism 10 with or without anosmiaA ji-Epileptic encephalopathy, early infantile, 407 d#Episodic pain syndrome, familial, 2 +Porphyria cutanea tarda6 k"Peroxisome biogenesis disorder 10B-tAngioedema, hereditary, 1$1ATRANSFERRINEMIA+ f2Bardet-Biedl syndrome 94 9 Bare lymphocyte syndrome, type I+ UHypomagnesemia 4, renal2 sqOsteootohepatoenteric syndrome( bUrofacial syndrome 2> a#*Cataract, autosomal recessive congenital 5D n0Myasthenic syndrome, congenital, 24, presynapticSI?Ciliary dyskinesia due to transposition of ciliary microtubulesL p8Hemolytic anemia due to glutathione reductase deficiencyD P0Spondyloepimetaphyseal dysplasia, Genevieve typeO t;Intellectual developmental disorder, autosomal recessive 73E pR1Myopathy, congenital, progressive, with scoliosis, n~Spermatogenic failure 30-\Cylindromatosis, familial E dW1Myopathy due to myoadenylate deaminase deficiency5h!Protoporphyria, erythropoietic, 1D~0Hypogonadotropic hypogonadism 24 without anosmia> _*Mental retardation, autosomal recessive 30, u7Spermatogenic failure 71E O1Neurodegeneration with brain iron accumulation 2B4 Ichthyosis and male hypogonadismW>CWoolly hair, hypotrichosis, everted lower lip, and outstanding ears(e$DIASTEMATOMYELIA6 ."Ceroid lipofuscinosis, neuronal, 6+ \Retinitis pigmentosa 55'=Winchester syndrome*hlDk phocomelia syndrome(lWhite sponge nevus 1L d8Macular degeneration, age-related, 15, susceptibility to 5S!Apparent mineralocorticoid excessG fY3Glycosylphosphatidylinositol biosynthesis defect 117 s#Bile acid malabsorption, primary, 2G b3Mitochondrial complex IV deficiency, nuclear type 6\ JHDeafness, autosomal recessive 36, with or without vestibular involvement01Hyperchlorhidrosis, isolatedF n2Mitochondrial complex I deficiency, nuclear type 9T&@Angiomatosis, diffuse corticomeningeal, of divry and van bogaert5 rY!Mismatch repair cancer syndrome 3. DPatent ductus arteriosus 1C Y/Spondyloepimetaphyseal dysplasia, Aggrecan type/fHypophosphatasia, childhoodB a.Peroxisome biogenesis disorder 10A (Zellweger)I oE5Epidermodysplasia verruciformis, susceptibility to, 5+5Biemond syndrome II2\HCochleosaccular degeneration of the inner ear with progressive cataracts/ rHypercholanemia, familial 2:K*&Cleft-Limb-Heart malformation syndrome+LFrank-ter Haar syndrome6"Hyperlysinuria with hyperammonemia' hImmunodeficiency 45F s2Ciliary dyskinesia, primary, 47, and lissencephaly3 nOCiliary dyskinesia, primary, 38H lK4Retinal dystrophy with or without macular staphylomaF m2Hydrocephalus, congenital, 3, with brain anomalies, mSpermatogenic failure 26[ hGSpastic tetraplegia, thin corpus callosum, and progressive microcephaly+ Q'Retinitis pigmentosa 36 PENTOSURIA/zLipase deficiency, combinedh S!TLeukoencephalopathy with brainstem and spinal cord involvement and lactate elevation0 nSqualene synthase deficiencyCd/Micromelic bone dysplasia with cloverleaf skull1 [Leber congenital amaurosis 14D0Marfanoid mental retardation syndrome, autosomalB lp.Spinocerebellar ataxia, autosomal recessive 258?$Celiac disease, susceptibility to, 1M u)9Epidermolysis bullosa, junctional 6, with pyloric atresiaB W.Microtia, hearing impairment, and cleft palate=G)Bile acid synthesis defect, congenital, 4, tSpermatogenic failure 626 J$"Leukodystrophy, hypomyelinating, 2\0HMuscular dystrophy, congenital, with infantile cataract and hypogonadismq n]Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3ICircumvallate placenta syndrome&dNephronophthisis 1; K'Fanconi anemia, complementation group I# FHypotrichosis 61 CAl-Gazali-Bakalinova syndrome< f(Palmoplantar keratoderma and woolly hair' rImmunodeficiency 790KTooth agenesis, selective, 4. sGlanzmann thrombasthenia 2?+Hypogonadism, primary, and partial alopecia^ZJOptic atrophy, hearing loss, and peripheral neuropathy, autosomalrecessive] isICorpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, mSpermatogenic failure 243gMetaphyseal acroscyphodysplasia8 b$Osteopetrosis, autosomal recessive 8' jJoubert syndrome 27I q5Neurodegeneration, infantile-onset, biotin-responsiveKb|7Leukoencephalopathy, diffuse hereditary, with spheroids #^wMEDULLOBLASTOMAC/Myopathy due to malate-aspartate shuttle defect rSmNeurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive(tProlidase deficiencyG o 3Mitochondrial complex I deficiency, nuclear type 29$ KBruck syndrome 2< ]:(Cardiomyopathy, familial hypertrophic, 7 A a-Peroxisome biogenesis disorder 8A (Zellweger)/ KGlucocorticoid deficiency 3( lOvarian dysgenesis 57 h#Epilepsy, progressive myoclonic, 105 B!Albinism, oculocutaneous, type IBDl0Dyssegmental dysplasia, Silverman-Handmaker typeN d":Microcornea, myopic chorioretinal atrophy, and telecanthus' jFMyopathy, distal, 54 / Deafness, autosomal recessive 152 e#Bone marrow failure syndrome 2"wJawad syndrome7 l#Myopathy, mitochondrial, and ataxia7 g$#Myasthenic syndrome, congenital, 140r}Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease:n&Red skin pigment anomaly of new guinea3Hypoplastic left heart syndrome% QAlopecia areata 2A ,H)Lissencephaly type III and bone dysplasia'nHalothane hepatitis+ pLessel-Kubisch syndrome< Z(Nijmegen breakage syndrome-like disorderHf4Abnormal hair, joint laxity, and developmental delay> `&*Cutis laxa, autosomal recessive, type IIIB-WCurved nail of fourth toeB J .Congenital disorder of glycosylation, type IIeY iEOsteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type@ N,2-Methylbutyryl-Coa dehydrogenase deficiency6~"Focal epithelial hyperplasia, oral$Renal glucosuriaI5Mitochondrial DNA depletion syndrome 4A (Alpers type)9 A%Melanoma, uveal, susceptibility to, 2 = f?)Familial dysalbuminemic hyperthyroxinemia;'Mosaic variegated aneuploidy syndrome 1> u0*Agammaglobulinemia 8B, autosomal recessive> e*Spastic paraplegia 64, autosomal recessiveZ - FBrachycephaly, deafness, cataract, microstomia, and mental retardation> te*Spastic paraplegia 84, autosomal recessive; s'Cardiomyopathy, familial restrictive, 6$ 4Gracile syndromeL cc8Hypogonadotropic hypogonadism 18 with or without anosmia9 .K%Trichothiodystrophy 1, photosensitive:#`&Spinal muscular atrophy, Ryukyuan type1 [Waardenburg syndrome, type 4B-Woodhouse-Sakati syndromeV YlBDystonia, dopa-responsive, due to sepiapterin reductase deficiency1Parkinson disease, late-onset MX9Lymphoblastic leukemia, acute, with lymphomatous features= R)Phosphoserine aminotransferase deficiency6h"Diabetes insipidus, nephrogenic, 2^ twJNeurodevelopmental disorder with hypotonia and gross motor and seech delay1ìChylomicron retention disease/ gKAtaxia-Oculomotor apraxia 4F2Cryptophthalmos, unilateral or bilateral, isolated1 e)Renal hypodysplasia/aplasia 2- `hUsher syndrome, type IIIBP sOsteogenesis imperfecta congenita, microcephaly, and cataracts3 +Deafness, autosomal recessive 9+?Xanthinuria, type IC ]/Night blindness, congenital stationary, type 1Di qUNeurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesn l7ZNeurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies"PCornea plana 2$ <Paragangliomas 3 G3Multicentric osteolysis, nodulosis, and arthropathy0Metachromatic leukodystrophy.]Gaucher disease, type IIIC, r Myofibrillar myopathy 10\i HDwarfism, low-birth-weight type, with unresponsiveness to growth hormone& ].Brachyolmia type 2>H *Chondrodysplasia calcificans metaphysealis&d\Wolfram syndrome 1b iaNHypotonia, infantile, with psychomotor retardation and characteristic facies 23Hyperoxaluria, primary, type IIs݈[Multicore myopathy with mental retardation, short stature, and hypogonadotropichypogonadismE D'1Autoimmune lymphoproliferative syndrome, type IIB/4Glycogen storage disease IV6 R"Ceroid lipofuscinosis, neuronal, 7K >7Spinal muscular atrophy, distal, autosomal recessive, 2& YImmunodeficiency 94 J Atrial fibrillation, familial, 2  VITILIGOVTLG+Hemochromatosis, type 1' eImmunodeficiency 20F u2Epidermolysis bullosa, junctional 2A, intermediateb cNHypotonia, infantile, with psychomotor retardation and characteristic facies 1>N*Lymphoid system deterioration, progressiveR*T>Teeth, congenital absence of, with taurodontia and sparse hair.;fVitamin A metabolic defect2tEpilepsy, pyridoxine-dependentGz3Humeroradial synostosis with craniofacial anomaliesS.?Spondyloepiphyseal dysplasia with congenital joint dislocations<(Internal carotid arteries, hypoplasia ofL `98Ichthyosis, spastic quadriplegia, and mental retardation> _*Mental retardation, autosomal recessive 275!Methionine malabsorption syndrome/ MCataract 22, multiple types5H!Chondrodysplasia, Blomstrand typeA fs-Microcephaly 13, primary, autosomal recessive; pG'Mitochondrial DNA depletion syndrome 17+ \Retinitis pigmentosa 58A@-Spinocerebellar ataxia, autosomal recessive 2- mGalloway-Mowat syndrome 3/ skCardiomyopathy, dilated, 2D9\%Digital clubbing, isolated congenital# k'Lissencephaly 8, YPorphyria, acute hepaticD g0Combined oxidative phosphorylation deficiency 23H ]4Mitochondrial DNA depletion syndrome 4B (mngie type)DÒ0Radiation sensitivity of natural killer activity 3%Brachyolmia type 1, Toledo typeH ^H4Chronic granulomatous disease 3, autosomal recessiveR G!>Encephalopathy, acute, infection-induced, susceptibility to, 3 " 5Omenn syndromec|OLipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency+Reese retinal dysplasiaB v.Developmental and epileptic encephalopathy 107J l6Vertebral, cardiac, renal, and limb defects syndrome 1f LRCerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome1 8 Poikiloderma with neutropenia5 f&!Deafness, autosomal recessive 102$RKindler syndrome> S*Spastic paraplegia 32, autosomal recessive/0GLYCOGEN STORAGE DISEASE Ic?2+Progeroid short stature with pigmented neviH b4Mitochondrial complex III deficiency, nuclear type 2F2Acyl-Coa dehydrogenase, short-chain, deficiency of19Sabinas brittle hair syndromeK u7Spinal muscular atrophy, distal, autosomal recessive, 6< k(Ectodermal dysplasia 13, Hair/tooth type9 S%Spastic ataxia 2, autosomal recessive6 Q"Epiphyseal dysplasia, Baumann type/Acid phosphatase deficiency7#Retinohepatoendocrinologic syndrome&پMoyamoya disease 1O kk;Intellectual developmental disorder, autosomal recessive 59@ :,Microcephaly 3, primary, autosomal recessiveA b -Congenital disorder of glycosylation, type It'`Deafness and myopia4 [) Beta-Ureidopropionase deficiencyI5Parkinson disease 15, autosomal recessive early-onset'yFactor X deficiency4 [ Deafness, autosomal recessive 25N ^:Short-Rib thoracic dysplasia 7 with or without polydactyly# |Sonoda syndromeR o>Myopathy, congenital, with fast-twitch (type ii) fiber atrophy= r)Sulfide:quinone oxidoreductase deficiency! Vici syndrome: .&Premature aging syndrome, Okamoto type7 o#Leukodystrophy, hypomyelinating, 186 XU"Epilepsy, progressive myoclonic 1B' eImmunodeficiency 24o ,WAlopecia-Mental retardation syndrome with convulsions and hypergonadotropichypogonadism/ UCombined saposin deficiencyD b 0Combined oxidative phosphorylation deficiency 12. cLNephrotic syndrome, type 8B i.Spinocerebellar ataxia, autosomal recessive 23S$?Renal tubular acidosis, distal, with progressive nerve deafnessB >.Multiple mitochondrial dysfunctions syndrome 10"Orofaciodigital syndrome IIIHn4Myelodysplasia and leukemia syndrome with monosomy 7d nHPNeurodevelopmental disorder with cerebellar atrophy and with or without seizures0 _Pancreatic lipase deficiencyJ P6Camptodactyly, tall stature, and hearing loss syndrome5 a!Peroxisome biogenesis disorder 7B% bCowden syndrome 6 4 >z Deafness, autosomal recessive 277 i#Coenzyme Q10 deficiency, primary, 8F m"2Leukodystrophy, progressive, early childhood-onsetV kBArthrogryposis multiplex congenita, neurogenic, with myelin defectB i}.Congenital disorder of glycosylation, type IIP' `@Joubert syndrome 15,0Bartter syndrome, type 2-Hemochromatosis, neonatal2 \Choanal atresia and lymphedema, ;qBrooke-Spiegler syndrome I o5Epidermodysplasia verruciformis, susceptibility to, 3BF.Mesoaxial hexadactyly and cardiac malformation"dLaron syndrome8 Q$Cerebrooculofacioskeletal syndrome 4+ .vRetinitis pigmentosa 194 d Deafness, autosomal recessive 880/@Thyrocerebroretinal syndrome3 lPolydactyly, postaxial, type A72 uCarey-Fineman-Ziter syndrome 2@f-,Rhizomelic chondrodysplasia punctata, type 2V gBPulmonary fibrosis and/or bone marrow failure, telomere-related, 3 7#Kaufman oculocerebrofacial syndrome5\!Myasthenia, limb-girdle, familial+ \Retinitis pigmentosa 56p r\Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities8 Ej$Immunodeficiency, common variable, 1"AYoung syndrome$bHOMOCARNOSINOSIS0 1iEncephalopathy, ethylmalonicCL/Hyperbilirubinemia, familial transient neonatal> e*Spastic paraplegia 61, autosomal recessiveB i.Congenital disorder of glycosylation, type IINB 8*Spastic paraplegia 11, autosomal recessive \hHMicrocephaly with chemotactic defect and transient hypogammaglobulinemiaF e2Amelogenesis imperfecta, hypomaturation type, iia5XjDPeripheral neuropathy, ataxia, focal necrotizing encephalopathy, and+ _*Mental retardation, autosomal recessive 246w"Faciocardiomelic dysplasia, lethal3 jThauvin-Robinet-Faivre syndrome( nOvarian dysgenesis 7' Amyotonia congenitaC P/Tumoral calcinosis, normophosphatemic, familialC o/T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE5<!White forelock with malformations- ttAcromesomelic dysplasia 41 JzWaardenburg syndrome, type 2DJ%16Spondylometaepiphyseal dysplasia, short Limb-Hand type+ `UV-sensitive syndrome 3+ BUsher syndrome, type IG(46,xy sex reversal 7A a-Peroxisome biogenesis disorder 6A (Zellweger)G f3ACTH-independent macronodular adrenal hyperplasia 2 + f1Bardet-Biedl syndrome 8+ ZRHadziselimovic syndromeB a.Peroxisome biogenesis disorder 13A (Zellweger)D E0Neuronopathy, distal hereditary motor, type VIIB < B(Polymicrogyria, bilateral frontoparietalA C-Congenital disorder of glycosylation, type Ig% lFraser syndrome 2/ oKhan-Khan-Katsanis syndrome;.P'Thrombocytopenia-absent radius syndrome0 I)Leber congenital amaurosis 9PMeckel syndrome, type 4$ _^Hypotrichosis 109>%Second metatarsal-metacarpal syndrome> _i*Mental retardation, autosomal recessive 187 _6#Myasthenic syndrome, congenital, 16H b4Mitochondrial complex III deficiency, nuclear type 3; f,'Lipodystrophy, familial partial, type 63EZunich neuroectodermal syndrome+ \KFrontonasal dysplasia 25!Glycogen storage disease 0, liver0 q4Sandestig-Stefanova syndrome+ t^Retinitis pigmentosa 92`LLeukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis_;GVitiligo, progressive, with mental retardation and urethral duplicationO f;Intellectual developmental disorder, autosomal recessive 463 ]Ciliary dyskinesia, primary, 15$ UElliptocytosis 1+ kPseudo-Torch syndrome 2* _<Psoriasis 14, pustular9 dh%Parkinson disease 19a, juvenile-onset= ."%Neural tube defects, folate-sensitive4j Amelogenesis imperfecta, type ICG -3Holoprosencephaly, semilobar, with craniosynostosisD sz0Combined oxidative phosphorylation deficiency 52J6Gastrointestinal defects and immunodeficiency syndrome&lZBethlem myopathy 1&ʴAlpha-mannosidosis> i*Mental retardation, autosomal recessive 53,lRichards-Rundle syndrome9 g%Trichothiodystrophy 2, photosensitiveBn .Ectodermal dysplasia and neurosensory deafness\2DGamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto<l(Facioscapulohumeral muscular dystrophy 2 $ qHarderoporphyria ,RqMuscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibersHR4Metaphyseal dysplasia, anetoderma, and optic atrophyB L.Myopathy, autophagic vacuolar, infantile-onset( CHOREOACANTHOCYTOSISO dE;Intellectual developmental disorder, autosomal recessive 372{Visceral steatosis, congenital5 rX!Mismatch repair cancer syndrome 2$Fish-Eye disease(MYunis-Varon syndrome9 eW%Immunodeficiency, common variable, 11J!6Amyotrophic lateral sclerosis, juvenile, with dementia9G%3-@methylglutaconic aciduria, type IVC b/Night blindness, congenital stationary, type 1Fc~BOFibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactylyX$DSpondylocostal dysostosis with anal atresia and urogenital anomalies^ hSJPolymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposisz mfNeurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures8 ;[$Hypobetalipoproteinemia, familial, 27 t#Heterotaxy, visceral, 12, autosomal% <[Noonan syndrome 2) ePancreatic agenesis 2A ?2-Spinocerebellar ataxia, autosomal recessive 1D qg0Combined oxidative phosphorylation deficiency 44B \q.Congenital disorder of glycosylation, type IIjG r(3Mitochondrial complex IV deficiency, nuclear type 4; h'Ullrich congenital muscular dystrophy 2K 87Spinal muscular atrophy, distal, autosomal recessive, 1@ a,Microcephaly 9, primary, autosomal recessive`LPrune belly syndrome with pulmonic stenosis, mental retardation, anddeafnessU oAContractures, pterygia, and variable skeletal fusions syndrome 1B(9Kyphomelic dysplasia> b*Mental retardation, autosomal recessive 353 +Deafness, autosomal recessive 6A G-Spinocerebellar ataxia, autosomal recessive 6@d,Cholestasis, benign recurrent intrahepatic 10 jSedoheptulokinase deficiency( _46,xy sex reversal 8 o Cataract 48- [Roifman-Chitayat syndrome,3 Restrictive dermopathy 1#RBehcet syndrome2Multiple endocrine neoplasia 1 - JPeripheral cone dystrophyD m0Short-Rib thoracic dysplasia 20 with polydactylyL8Tubulointerstitial kidney disease, autosomal dominant, 2 & G[Joubert syndrome 2yeHirschsprung disease with ulnar polydactyly, polysyndactyly of bigtoes, and ventricular septal defect2 bLymphoproliferative syndrome 23 rOocyte maturation defect 10 _ rKLeukoencephalopathy, progressive, infantile-onset, with or without deafnessB eX.Spinocerebellar ataxia, autosomal recessive 16F h92Neuropathy, hereditary motor and sensory, type VIB) I<Burn-Mckeown syndromeA)Myopathy with giant abnormal mitochondria, tSpermatogenic failure 634 \M Deafness, autosomal recessive 91Axl-Renal failure, progressive, with hypertension R iq>Microcephaly, short stature, and impaired glucose metabolism 27 s'#Pontocerebellar hypoplasia, type 1EC r/Erythrokeratodermia variabilis et progressiva 7< nD(Cardiomyopathy, familial hypertrophic 27#Oliver syndromeA:-Vas deferens, congenital bilateral aplasia of; 5O#Citrullinemia, type II, adult-onset = c.)Agammaglobulinemia 7, autosomal recessiveB aG.Congenital disorder of glycosylation, type IIK7D#Leber congenital amaurosis, type II> ` *Spastic paraplegia 46, autosomal recessive, t~Spermatogenic failure 60: ( &Puerto rican infant hypotonia syndrome- *Gallbladder disease 1 &(Tardive dyskinesiaD m0Neurodegeneration with brain iron accumulation 7:"Alpha-2-deficient collagen disease' YImmunodeficiency 101 qImerslund-Grasbeck syndrome 2O u;Primordial dwarfism-immunodeficiency-lipodystrophy syndrome' cPerrault syndrome 4'wNEthanolaminosisB \.Congenital disorder of glycosylation, type IIi# qGalactosemia IV= ])Cardiomyopathy, familial hypertrophic, 20 0 rRitscher-Schinzel syndrome 3 uvNeurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophyS s?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)!4P Behr syndrome+ hxGlioma susceptibility 9 8 +{$Proprotein convertase 1/3 deficiency+;|Hypophosphatasia, adult g Dystonia 27< 8~(Muscular dystrophy, limb-girdle, type 2E< /b(Muscular dystrophy, limb-girdle, type 2G.IBoucher-Neuhauser syndrome+ eMitchell-Riley syndromeG mX3Glycosylphosphatidylinositol biosynthesis defect 16= n)Neuropathy, congenital hypomyelinating, 3S c?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14A _W-Microcephaly, epilepsy, and diabetes syndromei NQEctodermal dysplasia, sensorineural hearing loss, and distinctive facial features0 uDystonia 35, childhood-onset& QJoubert syndrome 6<#t(Spinal muscular atrophy, scapuloperonealS f?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 121 ]Leber congenital amaurosis 15F ?h.Congenital disorder of glycosylation, type IIB( =mCone-Rod dystrophy 86 )"Tibial muscular dystrophy, tardive R>Sjogren-Larsson-Like ichthyosis without CNS or eye involvementD N0Spondylocostal dysostosis 3, autosomal recessiveA K-Congenital disorder of glycosylation, type IFO n};Intellectual developmental disorder, autosomal recessive 659 ct%Charcot-Marie-Tooth disease, type 4B37 s#Nephronophthisis-like nephropathy 2L u8Immunodeficiency 106, susceptibility to viral infections6"Albinism, oculocutaneous, type III+ KSenior-Loken syndrome 5,3$Atrophoderma vermiculatanhZMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4E r1Proteasome-associated autoinflammatory syndrome 4+ ]Retinitis pigmentosa 44' tnImmunodeficiency 88C Ri/Surfactant metabolism dysfunction, pulmonary, 30 PAicardi-Goutieres syndrome 4H r94Mitochondrial complex IV deficiency, nuclear type 21B i.Spinocerebellar ataxia, autosomal recessive 21[_GHyperparathyroidism, neonatal self-limited primary, with hypercalciuria)z Fanconi-Like syndrome<\(Neuropathy, hereditary sensory, atypicalH r.4Mitochondrial complex IV deficiency, nuclear type 11" LTukel syndrome0 bMyoclonus, familial cortical 4b< Meralgia paraesthetica, familial; K'Fanconi anemia, complementation group JM9Hypouricemia, hypercalcinuria, and decreased bone density5!D-bifunctional protein deficiency6 "Radiculoneuropathy, fatal neonatal' n|Immunodeficiency 57CN|+Collagenosis, familial reactive perforatingA e-Epileptic encephalopathy, early infantile, 21J o6Cerebellar, ocular, craniofacial, and genital syndrome9 ](%Spastic ataxia 4, autosomal recessive9 _,%Craniosynostosis and dental anomaliesk m4WCombined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemiaH r34Mitochondrial complex IV deficiency, nuclear type 150 ZGlycogen storage disease IXc-2Atelosteogenesis, type IIrw^Factor V and factor VIII, combined deficiency of, with normal proteinc and protein C inhibitor(5JSitosterolemia 1 6 ^"Leukotriene C4 synthase deficiency# DbLathosterolosis+ edRetinitis pigmentosa 69<(Polysyndactyly with cardiac malformationN:Osteodysplasty, precocious, of danks, mayne, and kozlowski) `|Fibrochondrogenesis 21 g Cerebellofaciodental syndromeD FO0Hypotrichosis-Lymphedema-Telangiectasia syndrome, Bernard-Soulier syndrome> g*Basal ganglia calcification, idiopathic, 6 V aWBPulmonary fibrosis and/or bone marrow failure, telomere-related, 2 , = Usher syndrome, type IICNՆ:Microcephaly and chorioretinopathy, autosomal recessive, 1; G'Immunodeficiency with hyper-IgM, type 4' fImmunodeficiency 37.EGriscelli syndrome, type 1A-Myopathy, myosin storage, autosomal recessive, u2Spermatogenic failure 69*dDiaphragmatic hernia 2; Yn'Cerebral creatine deficiency syndrome 35 f!Macular dystrophy, vitelliform, 4 : >v&Citrullinemia, type II, neonatal-onset- 9Spinocerebellar ataxia 11 + FPeeling skin syndrome 4, +0Budd-Chiari syndrome +~~Fleck retina of kandori0 mShwachman-Diamond syndrome 2>v*Metaphyseal chondrodysplasia, Kaitila type. RMicrophthalmia, isolated 54 Obesity-Hypoventilation syndrome) cCone-Rod dystrophy 18.Immunoglobulin M, level of A AQ-Ichthyosis, congenital, autosomal recessive 3X u DAnemia, congenital dyserythropoietic, type IIIb, autosomal recessive, f<Bardet-Biedl syndrome 19Q q=Hyper-IgE recurrent infection syndrome 5, autosomal recessive"8Cornea plana 1D qV0Combined oxidative phosphorylation deficiency 416 p"Infantile liver failure syndrome 39 f%Polyendocrine-Polyneuropathy syndromeH d4Epidermolysis bullosa simplex, autosomal recessive 2C P/Combined oxidative phosphorylation deficiency 35 Z!Asphyxiating thoracic dystrophy 3:&Methylmalonyl-Coa epimerase deficiency@(Supranuclear palsy, progressive atypical 9 %Pulmonary bullae causing pneumothorax' eNImmunodeficiency 22ENCHANDS5 o!Deafness, autosomal recessive 113#Jejunal atresia-Glomuvenous malformations3 ^Ciliary dyskinesia, primary, 169%Intracranial hypertension, idiopathicCƆ+Lymphoblastic transformation, inhibition of=Xr)Cutis marmorata telangiectatica congenitaEL1Neutropenia, lethal congenital, with eosinophilia& tNoonan syndrome 14Q (=Pancreatic beta cell agenesis with neonatal diabetes mellitus8$Hypertrophic neuropathy and cataractC 0W/Medium chain 3-ketoacyl-coa thiolase deficiency26Hypogonadism-Cataract syndromeQs4=Endocardial fibroelastosis and coarctation of abdominal aorta/ZAcrocraniofacial dysostosis7 X#Myopathy, congenital, compton-north/ lPolycystic kidney disease 5A X-Congenital disorder of glycosylation, type IQ7 X&#Pontocerebellar hypoplasia, type 2C!t Paraoxonase 1?+Carnitine palmitoyltransferase I deficiencyQ p=Hyper-IgE recurrent infection syndrome 4, autosomal recessiveB 1 .Ichthyosis, congenital, autosomal recessive 11O no;Intellectual developmental disorder, autosomal recessive 63; K['Limb-girdle muscular dystrophy, type 1G .Orofaciodigital syndrome V/ maGlucocorticoid deficiency 5> jD*Mental retardation, autosomal recessive 54i4UMicrophthalmia with hyperopia, retinal degeneration, macrophakia,and dental anomalies0vOculopalatocerebral syndrome. O-Microphthalmia, isolated 25 hC!Deafness, autosomal recessive 104} tiLeukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy= ZL)Cutis laxa, autosomal recessive, type IIB= ])Bile acid synthesis defect, congenital, 3H f4Mitochondrial complex III deficiency, nuclear type 9B ^c.Dyskeratosis congenita, autosomal recessive, 2?.+Mitochondrial myopathy with lactic acidosis++Aprosencephaly syndromeN:Alopecia-Contractures-Dwarfism mental retardation syndromeG n3Mitochondrial complex I deficiency, nuclear type 133 eCiliary dyskinesia, primary, 295 l!Deafness, autosomal recessive 1073 [ICiliary dyskinesia, primary, 13Q `)=Hypertrophic osteoarthropathy, primary, autosomal recessive 2>`*Chronic recurrent multifocal osteomyelitisapMEhlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality] 8IBlepharophimosis with facial and genital anomalies and mental retardationVBCarbamoyl phosphate synthetase I deficiency, hyperammonemia due to0 sAicardi-Goutieres syndrome 8A9V-Ulnar agenesis and endocardial fibroelastosis.}Fibrosclerosis, multifocal3 ]0Beaulieu-Boycott-Innes syndrome7 l#Pontocerebellar hypoplasia, type 117 g#Leukodystrophy, hypomyelinating, 10> d*Spastic paraplegia 72, autosomal recessiveN tW:Heterotaxy, visceral, 10, autosomal, with male infertility6 u"Osteogenesis imperfecta, type XXIIm -YGrowth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction+ _%Retinitis pigmentosa 62% aSeckel syndrome 78d$Pyruvate dehydrogenase E2 deficiencyQ e=Polyglucosan body myopathy 1 with or without immunodeficiency/ dOtofaciocervical syndrome 2C/Lecithin:cholesterol acyltransferase deficiency5 b!!Deafness, autosomal recessive 18B, u[Spermatogenic failure 723 qCiliary dyskinesia, primary, 44D kc0Anterior segment dysgenesis 6, multiple subtypesN -:Hypotrichosis, congenital, with juvenile macular dystrophy,DEnhanced S-cone syndrome@kCerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndrome' dJoubert syndrome 22*Smith-Magenis syndrome G ds3Ehlers-Danlos syndrome, musculocontractural type, 2A rt-Developmental and epileptic encephalopathy 89g gSAtaxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus4 [Miyoshi muscular dystrophy 3 0nRosselli-Gulienetti syndrome( fNemaline myopathy 10 t- Dystonia 31e pQNeurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements9 ov%Cone-rod dystrophy and hearing loss 24 D Deafness, autosomal recessive 33A )AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF) GCone-rod dystrophy 131 -Mucopolysaccharidosis type IX,~Polymyoclonus, infantile^ [`JNight blindness, congenital stationary (complete), 1C, autosomal recessive6"Polysaccharide, storage of unusual, f6Bardet-Biedl syndrome 13N S:Intellectual developmental disorder, autosomal recessive 7J N2Systemic lupus erythematosus, susceptibility to, 6 _ -KCardiomyopathy, dilated, 1C, with or without left ventricular noncompaction @ n,Diarrhea 10, protein-losing Enteropathy type+ f.Bardet-Biedl syndrome 4' aNephronophthisis 153$Brachyolmia type 1, Hobaek typeY oECancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma+ \Senior-Loken syndrome 70 ruKaya-Barakat-Masson syndrome5\!Albinism, oculocutaneous, type IA_ KPseudopapilledema, ocular hypotelorism, blepharophimosis, and handanomaliesQ =Acanthosis nigricans with muscle cramps and acral enlargement@ L,Epileptic encephalopathy, early infantile, 38 e$Bleeding disorder, platelet-type, 18A D)Spastic paraplegia 7, autosomal recessive 8 \x$Immunodeficiency, common variable, 6; o'Trichohepatoneurodevelopmental syndrome> ZH*Spastic paraplegia 50, autosomal recessiveA n-Microcephaly 22, primary, autosomal recessive.oEctopia lentis et pupillae9 c%T-CELL RECEPTOR-ALPHA/BETA DEFICIENCYJ Z6Neuropathy, hereditary sensory and autonomic, type IIB1 uoRenal hypodysplasia/aplasia 4%l,DYSOSTEOSCLEROSIS3Mucopolysaccharidosis type IIIC= ZY)Parkinson disease 14, autosomal recessive,;Campomelia, Cumming typeB c.Combined d-2- and l-2-hydroxyglutaric aciduria+ ^FSpermatogenic failure 9= Z)Pituitary hormone deficiency, combined, 1I1Cone dystrophy, X-linked, with tapetal-like sheen \ QHDeafness, congenital, with inner ear agenesis, microtia, and microdontia4 p Polydactyly, postaxial, type A10W ]xCHYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY=P0)Nail disorder, nonsyndromic congenital, 3]IHirschsprung disease with hypoplastic nails and dysmorphic facialfeatures@ u ,Epidermolysis bullosa, junctional 3B, severe-,Argininosuccinic aciduria6 i-"Heterotaxy, visceral, 7, autosomal2 j\Bone marrow failure syndrome 3=^)Deafness, congenital, with total albinismZ )FIntrauterine growth retardation with increased mitomycin C sensitivity5 l!Deafness, autosomal recessive 108?b+Pancreatic insufficiency, combined exocrineX EDIchthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitisO d;Short-Rib thoracic dysplasia 11 with or without polydactyly, mSpermatogenic failure 25M ^9Ventricular tachycardia, catecholaminergic polymorphic, 3W OCCerebellar ataxia, mental retardation, and dysequilibrium syndrome2) YRSpherocytosis, type 5A V-Congenital disorder of glycosylation, type IN- m)Spinocerebellar ataxia 45 :9&Vacterl association with hydrocephalus* >Glycine encephalopathy"3mc syndrome 1 *h Teeth, fusedO j;Intellectual developmental disorder, autosomal recessive 74) Y1Cone-rod dystrophy 12@ n,Growth hormone deficiency, isolated, type IV' cEstrogen resistanceJ 9D6Neuropathy, hereditary motor and sensory, Okinawa type A [-Lipodystrophy, congenital generalized, type 4'Rhizomelic syndrome^4JBerry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification) eCone-Rod dystrophy 19/SCramps, familial adolescent> I*Ehlers-danlos syndrome, Beasley-Cohen type;.'Asthma, short stature, and elevated igaX nMDPolycystic kidney disease 6 with or without polycystic liver disease B tv.Spondylometaphyseal dysplasia, Pagnamenta type$TTemtamy syndrome<ޡ(Muscular dystrophy, limb-girdle, type 2B;M 'Cleidocranial dysplasia, recessive form3 dQCiliary dyskinesia, primary, 28/ nNephrotic syndrome, type 17% 8 Salla diseaseA m-Epileptic encephalopathy, early infantile, 602Galactose epimerase deficiency( X@Factor XI deficiency( n^Ovarian dysgenesis 6O o;Intellectual developmental disorder, autosomal recessive 69/Pseudodiastrophic dysplasia= )Spondyloarthropathy, susceptibility to, 2Khb7Diverticulosis of bowel, hernia, and retinal detachment4 7 Deafness, autosomal recessive 20; 2'Acromesomelic dysplasia, Maroteaux type7 u#Pontocerebellar hypoplasia, type 17W՚CBand-Like calcification with simplified gyration and polymicrogyria7 h.#Leukodystrophy, hypomyelinating, 11# gaOptic atrophy 9@(Cardiomyopathy, familial hypertrophic, 4 H F4Spondyloenchondrodysplasia with immune dysregulation7 .N#Bartter syndrome, type 1, antenatal#2Tiglic acidemia8 g$Focal segmental glomerulosclerosis 98$Adrenal hypoplasia, Cytomegalic type5^!Acrofrontofacionasal dysostosis 27/#Thumb, distal hyperextensibility ofB s.Spinocerebellar ataxia, autosomal recessive 305!Peroxisome biogenesis disorder 3BQ N=Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant& l#Peho-Like syndrome^ rJIntellectual developmental disorder with paroxysmal dyskinesia or seizuresdPAlaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitusV"fBSpastic quadriplegia, retinitis pigmentosa, and mental retardation, VyStevenson-Carey syndrome$4Oguchi disease 1G o3Mitochondrial complex I deficiency, nuclear type 25WCHirschsprung disease with polydactyly, renal agenesis, and deafness1zFascial dystrophy, congenital#SACCHAROPINURIAF n2Mitochondrial complex I deficiency, nuclear type 3L 88Congenital cataracts, facial dysmorphism, and neuropathy2PPlasminogen deficiency, type IS [?Inflammatory bowel disease 28, early onset, autosomal recessiveC/Alpha-aminoadipic and alpha-ketoadipic aciduriaT s@Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathyF.Congenital disorder of glycosylation, type IIc] iIOptic atrophy 10 with or without ataxia, mental retardation, and seizuresB l.Multiple mitochondrial dysfunctions syndrome 5V GaBPeriventricular heterotopia with microcephaly, autosomal recessive5!Acrofrontofacionasal dysostosis 1, T7Usher syndrome, type IIDA Gh-Congenital disorder of glycosylation, type Iha o{MShort stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis= b<)Cholestasis, intrahepatic, of pregnancy 34 Un Dystonia with cerebellar atrophyY l3ENeurodevelopmental disorder with midbrain and hindbrain malformations/ ^Hermansky-Pudlak syndrome 6;^'Acrorenal syndrome, autosomal recessiveR j>Encephalopathy, progressive, with amyotrophy and optic atrophy#Sclerosteosis 18 l$3-methylglutaconic aciduria, type IX@ ,Epidermolysis bullosa dystrophica, pretibial3 rfArthrogryposis, distal, type 1C/ kLopes-Maciel-Rodan syndrome/:Orofaciodigital syndrome VI7 s.#Leukodystrophy, hypomyelinating, 21= \})Agammaglobulinemia 3, autosomal recessiveL \ 8Autoimmune disease, multisystem, with facial dysmorphismj gzVMyasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiencyG o 3Mitochondrial complex I deficiency, nuclear type 289 +%Epilepsy, familial adult myoclonic, 1 5 a!Peroxisome biogenesis disorder 8B+8Frontonasal dysplasia 1':Vascular hyalinosis= Z)Hypotrichosis and recurrent skin vesicles2 ^Complement factor D deficiency6"Hyperbilirubinemia, shunt, primary< S(Muscular dystrophy, limb-girdle, type 2L9 o%Spastic ataxia 9, autosomal recessiveT@Hypokalemic alkalosis, familial, with specific renal tubulopathy8/n$Ataxia, deafness, and cardiomyopathy%*Anus, imperforates_Retinal degeneration with nanophthalmos, cystic macular degeneration,and angle closure glaucomaO k;Short-Rib thoracic dysplasia 17 with or without polydactylyF2Phosphoenolpyruvate carboxykinase 2, mitochondrial( .Cone-Rod dystrophy 6&Rhabdomyosarcoma 1O o$;Neurodegeneration, childhood-onset, with cerebellar atrophy+ VRetinitis pigmentosa 41e jQShort stature, brachydactyly, intellectual developmental disability, and seizures` iLDevelopmental delay with short stature, dysmorphic features, and sparse hair'Immunodeficiency 43#&Canavan diseaseB Mo.Deafness, neurosensory, autosomal recessive 46) qeAnauxetic dysplasia 3' mcImmunodeficiency 55"8Short syndrome t nr\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 > \*Ectodermal dysplasia-syndactyly syndrome 1%Nathalie syndromeH sK4Popliteal pterygium syndrome, Bartsocas-Papas type 24 C} Deafness, autosomal recessive 30((Carpenter syndrome 1B k.Congenital disorder of glycosylation, type IIq= @)Macrocephaly and epileptic encephalopathy/ N{Cardiomyopathy, dilated, 1Q 4 g Amelogenesis imperfecta, type IH, CMicrocephaly, Amish typeD (Pseudovaginal perineoscrotal hypospadias2E +G1Wiskott-Aldrich syndrome, autosomal dominant formB&l.Succinic semialdehyde dehydrogenase deficiency7 s#Ventriculomegaly and arthrogryposis+ hRetinitis pigmentosa 72A F-Congenital disorder of glycosylation, type IiA pT-Epileptic encephalopathy, early infantile, 80Oz;Megacystis-microcolon-intestinal hypoperistalsis syndrome 1+Kifafa seizure disorder. RMicrophthalmia, isolated 3' gNephronophthisis 190 rWSpermatogenic failure 46 3Polydactyly, postaxial, type A5*Fructosuria, essential' t>Joubert syndrome 40h ggTPeeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle padsQ=Hypertrophic osteoarthropathy, primary, autosomal recessive 1( oURIDINE-CYTIDINEURIA\0HAtaxia-Telangiectasia with generalized skin pigmentation and early deathEi41Dwarfism, mental retardation, and eye abnormality.TCranioectodermal dysplasia*DCeroid storage disease6M"Growth factors, combined defect of' rJoubert syndrome 37- m*Spinocerebellar ataxia 46 N S:Intellectual developmental disorder, autosomal recessive 5@,Plasma clot retraction factor, deficiency of5 o!Deafness, autosomal recessive 112_ eKEpileptic encephalopathy, early infantile, 25, with amelogenesis imperfectaK *I7Carnitine palmitoyltransferase II deficiency, infantilej YjVExocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis$'SULFOCYSTEINURIA7 Z#Liver failure, infantile, transientF n2Mitochondrial complex I deficiency, nuclear type 65 _!Glutathione peroxidase deficiency, c6Smith-Mccort dysplasia 24 ( Nivelon-Nivelon-Mabille syndromeB e.Spinocerebellar ataxia, autosomal recessive 15' eAAtrial standstill 2}iHyperuricemia, infantile, with abnormal behavior and normal hypoxanthineguanine phosphoribosyltransferase  HISTIDINEMIAU d/AMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)L+s8Aplasia cutis congenita with intestinal lymphangiectasia`bJLPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy=X@)Cutis laxa, autosomal recessive, type IIA-Fingerprint body myopathyU pAMitochondrial complex V (ATP synthase) deficiency, nuclear type 6- ASpinocerebellar ataxia 15 p\Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)7 J#Ataxia, sensory, autosomal dominant W(CProteasome-associated autoinflammatory syndrome 1 and digenic forms] `:IThiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)N>F:Optic disc anomalies with retinal and/or macular dystrophy7 g##Myasthenic syndrome, congenital, 15L a8Hypogonadotropic hypogonadism 12 with or without anosmia4 i Deafness, autosomal recessive 97)Acetylation, slow>5*Bietti crystalline corneoretinal dystrophyI i5Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type0 bbAicardi-Goutieres syndrome 6> i*Mental retardation, autosomal recessive 528 O$3-@methylglutaconic aciduria, type V4 + Glaucoma 3, primary infantile, B_ oKNeurodevelopmental disorder with seizures and speech and walking impairment1DHemangiopericytoma, malignant9 o%Fetal akinesia deformation sequence 23 qDeafness, autosomal dominant 77 :(&Tapetoretinal degeneration with ataxiai nUNeurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizuresO -;Mental retardation, microcephaly, epilepsy, and coarse face)Pierre Robin syndromeQ=Hemosiderosis, pulmonary, with deficiency of gamma-A globulinB lf.Ichthyosis, congenital, autosomal recessive 134 Familial Mediterranean fever, AR1 -KMyopathy, myofibrillar, 1 N r:Neurofacioskeletal syndrome with or without renal agenesis4 5 Deafness, autosomal recessive 214 R Osteogenesis imperfecta, type XI*Sc phocomelia syndrome. `]Wiskott-Aldrich syndrome 2&ٌMorquio syndrome C<W(Cutis laxa, autosomal recessive, type IA7#Paroxysmal nocturnal hemoglobinuria )OsteochondrodysplasiaD oY0Combined oxidative phosphorylation deficiency 37Ju(6Epidermolysis bullosa dystrophica, autosomal recessiveA +-Deafness, neurosensory, autosomal recessive 7\ jHNeurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset% aHSeckel syndrome 68 h$Charcot-Marie-Tooth disease, type 4K0 mDiamond-Blackfan anemia-likeH e$4Hyperphosphatasia with mental retardation syndrome 42<Hyperoxaluria, primary, type IA oo-Microcephaly 25, primary, autosomal recessive48x Tyrosine transaminase deficiency% )Succinic acidemiaA bo-Ichthyosis, congenital, autosomal recessive 9:&Isotretinoin embryopathy-like syndrome+ >~Spondyloocular syndrome+ 8ZHemochromatosis, type 3& gBMeckel syndrome 12C٠/Motor neuropathy, peripheral, with dysautonomia, f5Bardet-Biedl syndrome 12C s/Microcephaly, epilepsy, and diabetes syndrome 2_ nqKMicrocephaly, growth restriction, and increased sister chromatid exchange 22 SDystonia, focal, task-specific = _)Nail disorder, nonsyndromic congenital, 96|"Fructose and galactose intolerance0 ZXAicardi-Goutieres syndrome 5A p-Epileptic encephalopathy, early infantile, 81]IGlutathione synthetase deficiency of erythrocytes, hemolytic anemiadue to. oqOocyte maturation defect 6L n&8Humerofemoral hypoplasia with radiotibial ray deficiency? m+Amyloidosis, primary localized cutaneous, 32 KGriscelli syndrome, type 3s A_MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 53 o<Ciliary dyskinesia, primary, 401 mOrofaciodigital syndrome XVII9 u%Immunodeficiency 105, severe combined:&Ectodermal dysplasia with adrenal cyst2#Z4Cystic fibrosisG K 3Ataxia, posterior column, with retinitis pigmentosa6 +"Deafness, autosomal recessive 8/105 a!Peroxisome biogenesis disorder 9B+ ,kIron overload in africa&,Hymen, imperforateA o-Epileptic encephalopathy, early infantile, 76+PBrittle cornea syndromeB k.Hyperphenylalaninemia, MILD, non-bh4-deficienth a\TInterstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital: Pv&Alopecia-Mental retardation syndrome 22QCorneal dystrophy, band-shapedB l.Spinocerebellar ataxia, autosomal recessive 26Z o[FEncephalopathy, progressive, early-onset, with episodic rhabdomyolysis+Geleophysic dysplasia 1, tSpermatogenic failure 61A P)THIOPURINE S-METHYLTRANSFERASE DEFICIENCYY rEDeafness, congenital, and adult-onset progressive leukoencephalopathy= S)Mental retardation, autosomal recessive 6B ]`.Spinocerebellar ataxia, autosomal recessive 10$Alstrom syndrome+ e-Retinitis pigmentosa 68a kZMColoboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness5 b!Osteogenesis imperfecta, type XIV4 a Deafness, autosomal recessive 98A *-Deafness, neurosensory, autosomal recessive 5B c.Multiple mitochondrial dysfunctions syndrome 3F (2Vitamin D hydroxylation-deficient rickets, type 1BW4CMetaphyseal dysostosis, mental retardation, and conductive deafnessO p;Intellectual developmental disorder, autosomal recessive 71Y pLENeurodevelopmental disorder with cerebellar hypoplasia and spasticity\qDProliferative vasculopathy and hydranencephaly-hydrocephaly syndrome< (Metaphyseal chondrodysplasia, Spahr type> bw*Spastic paraplegia 49, autosomal recessiveC /Surfactant metabolism dysfunction, pulmonary, 1A.-Asthma, nasal polyps, and aspirin intolerance, PRetinal cone dystrophy 4A =-Charcot-Marie-Tooth disease, axonal, type 2B1N e:Encephalopathy, progressive, with or without lipodystrophy u3uIntellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly9<%Cardioskeletal syndrome, Kuwaiti type' m'Joubert syndrome 337 i#Myasthenic syndrome, congenital, 19J cu6Neutropenia, severe congenital, 5, autosomal recessive9 e%Ataxia-Telangiectasia-Like disorder 2U$AAnemia, sideroblastic, pyridoxine-responsive, autosomal recessive=(.)Crisponi/cold-induced sweating syndrome 1O sW;Megacystis-microcolon-intestinal hypoperistalsis syndrome 2W [kCCerebellar ataxia, mental retardation, and dysequilibrium syndrome3<l(Dystonia 2, torsion, autosomal recessiveG n3Glycosylphosphatidylinositol biosynthesis defect 18( ;UMICROHYDRANENCEPHALYl oQXEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 24 B Cree mental retardation syndromeC g/Night blindness, congenital stationary, type 1G> _*Amyotrophic lateral sclerosis 16, juvenile4 a Deafness, autosomal recessive 93S?Hypogonadism, malehypogonadism and testicular atrophy, included0 jZHermansky-Pudlak syndrome 10D0Oculocerebral hypopigmentation syndrome of preusH f4Immunodeficiency 38 with basal ganglia calcificationc OlOMental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome5 nn!Deafness, autosomal recessive 110E J1Myasthenic syndrome, congenital, 1B, fast-channelOz;Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndromeG n3Mitochondrial complex I deficiency, nuclear type 147 H#Platelet glycoprotein IV deficiencyo q8[Intellectual developmental disorder with poor growth and with or without seizures or ataxia=N)Coloboma of macula and skeletal anomalies; ^'Mosaic variegated aneuploidy syndrome 27 [#Parkinsonism-Dystonia, infantile, 1)Factor XII deficiency8 T$Osteopetrosis, autosomal recessive 64L-2-Hydroxyglutaric aciduriaQ j=Dyskinesia, seizures, and intellectual developmental disorders o,_Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum4 k Sclerosing cholangitis, neonatal2 KHyperthyroidism, nonautoimmuneE O*1Pyridoxamine 5-prime-phosphate oxidase deficiencyYNEIchthyosis with alopecia, eclabion, ectropion, and mental retardationr tR^Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies> -^*Rhizomelic dysplasia, Patterson-Lowry type6 _"Complement component 4A deficiency7 gT#Coenzyme Q10 deficiency, primary, 7Cl/Dyssegmental dysplasia, Rolland-Desbuquois typeD iZ0Combined oxidative phosphorylation deficiency 28)@Cerebellar hypoplasia0 `Microphthalmia, syndromic 11(HydroxykynureninuriaD k0Myasthenic syndrome, congenital, 21, presynapticR q>Cone-rod synaptic disorder syndrome, congenital nonprogressiveP fQ*Corneal degeneration, band-shaped spheroid ]NoThiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)3 Retinal arteries, tortuosity of @ Y_,Microcephaly 7, primary, autosomal recessiveO a;Short stature, optic nerve atrophy, and pelger-huet anomalyj JVMyasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency0Glycoprotein storage disease<9(Bowen syndrome of multiple malformations=@)Roussy-Levy hereditary areflexic dystasia F .2Ehlers-Danlos syndrome, musculocontractural type 1/ iLymphedema, hereditary, III0ڸMucolipidosis III alpha/beta/ cARetinitis pigmentosa 66 / ^Hermansky-Pudlak syndrome 45 An!Albinism, oculocutaneous, type IVA k-Epileptic encephalopathy, early infantile, 53H r74Mitochondrial complex IV deficiency, nuclear type 19  Pyle disease<(Trichorhinophalangeal syndrome, type III@ aC,Adenine phosphoribosyltransferase deficiencyd ZSPMicrocephaly, growth retardation, cataract, hearing loss, and unusual appearance> G*Spastic paraplegia 25, autosomal recessive3 :Myoclonic epilepsy, juvenile, 2CP/Modifier, X-linked, for neurofunctional defects3Mucopolysaccharidosis type IIIB"WCrome syndrome/ ^Hermansky-Pudlak syndrome 3O~;Hypomagnesemia 5, renal, with or without ocular involvement3 oCiliary dyskinesia, primary, 41, gCandidiasis, familial, 90 NPitt-Hopkins-Like syndrome 1/ eAuriculocondylar syndrome 3/Progesterone resistance- CSpinocerebellar ataxia 17 *JCitrullinemia, classicN [:Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type2Prolactin deficiency, isolatedn hZZMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9)8Tyrosinemia, type III= W)Cardiomyopathy, familial hypertrophic, 12 5 H!Familial adenomatous polyposis, 2:D&Fructose-1,6-Bisphosphatase deficiencykWHomocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity# 1Grange syndrome9 c%Epilepsy, familial adult myoclonic, 5= k)Cutis laxa, autosomal recessive, type IID. bMicrophthalmia, isolated 8.f Dicarboxylicamino aciduriaH _?4Hyperphosphatasia with mental retardation syndrome 3^ sJCentral hypoventilation syndrome, congenital, 2, and autonomic dysfunction4 c Albinism, oculocutaneous, type V1HHypoadrenocorticism, familial%lAlzheimer disease :&Radial heads, posterior dislocation of/ DCardiomyopathy, dilated, 1M <j(Multiple pterygium syndrome, Lethal typeEͶ1Thiamine-Responsive megaloblastic anemia syndromeC j@/Night blindness, congenital stationary, type 1HYbEMetachromatic leukodystrophy, adult-onset, with normal arylsulfatasea / [KWeill-Marchesani syndrome 4_ bKEctodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessiveR g>Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 5V!Albinism, oculocutaneous, type VI/ nNephrotic syndrome, type 19B bp.Ichthyosis, congenital, autosomal recessive 10F n2Mitochondrial complex I deficiency, nuclear type 84 FM Deafness, autosomal recessive 37E t1Biliary, renal, neurologic, and skeletal syndrome@ FW,Charcot-Marie-Tooth disease, axonal, type 2K' gImmunodeficiency 401~tFleck retina, familial benign-Amyloidosis, Finnish type O se;Megacystis-microcolon-intestinal hypoperistalsis syndrome 4! M C5 deficiency+IChorea, benign familial. jHypercalcemia, infantile 2C n/Hennekam lymphangiectasia-lymphedema syndrome 3; Gj'Immunodeficiency with hyper-igm, type 5 fGlCataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasiaQI=Chromosomal instability with tissue-specific radiosensitivityG r3Mitochondrial complex II deficiency, nuclear type 2' tImmunodeficiency 927|Granulomas, congenital cerebral/@Premature ovarian failure 1 ^ lXJSpastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophyx _dLeukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism+ɺHypomagnesemia 3, renalK dM7Molybdenum cofactor deficiency, complementation group C;32'Tongue, pigmented fungiform papillae of< t(Congenital disorder of deglycosylation 2J h]6Short stature, microcephaly, and endocrine dysfunction. k#Uncombable hair syndrome 27Intrinsic factor deficiency ZS|FCorpus callosum, agenesis of, with facial anomalies and Robin sequenceMt`5Epidermodysplasia verruciformis, susceptibility to, 1R r>Short stature, oligodontia, dysmorphic facies, and motor delay6 ,"Supranuclear palsy, progressive, 1 k YWSeizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance(nFraser-Like syndromeDb60Deafness, sensorineural, with pituitary dwarfism"6Gombo syndromeB 5.Congenital disorder of glycosylation, type IIf.Frontofacionasal dysplasia< 5(Spastic paraplegia 8, autosomal dominant . b`Nephrotic syndrome, type 73FPostaxial acrofacial dysostosisD hv0Spondylocostal dysostosis 6, autosomal recessive> ]*Spastic paraplegia 48, autosomal recessive> jV*Spastic paraplegia 77, autosomal recessiveC \/Combined oxidative phosphorylation deficiency 7' fPerrault syndrome 5B Q[.Xeroderma pigmentosum, complementation group BA .j-Yemenite deaf-blind hypopigmentation syndromeFP2Mandibulofacial dysostosis with mental retardationO n;Ophthalmoplegia, external, with rib and vertebral anomalies' dImmunodeficiency 18' h*Joubert syndrome 23' EImmunodeficiency 67A^-Gastroschisisabdominal wall defects, included> b{*Spastic paraplegia 55, autosomal recessive> t*Ferguson-Bonni neurodevelopmental syndromeG fA3Breasts and/or nipples, aplasia or hypoplasia of, 24 U5 Primary lateral sclerosis, adult R ft>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 70Plasmin inhibitor deficiencyK a,7Immunodeficiency, common variable, 8, with autoimmunityB s.Spinocerebellar ataxia, autosomal recessive 31)>Wrinkly skin syndromeR]>Split-Hand/foot malformation 1 with sensorineural hearing loss+Peeling skin syndrome 13 c:Polydactyly, postaxial, type A66"Gastric cancer, hereditary diffuse F s12Immunodeficiency 80 with or without cardiomyopathy>9*Hypertrophic neuropathy of dejerine-sottas3 BhGlucose/galactose malabsorption0ETWaardenburg syndrome, type 33 jCiliary dyskinesia, primary, 34I i5Parkinson disease 23, autosomal recessive early-onsetRӰ>Methemoglobinemia due to deficiency of methemoglobin reductase-Knobloch syndrome, type 1; .'Trichoepithelioma, multiple familial, 1 /v"EPILEPSY-TELANGIECTASIA+ TMeckel syndrome, type 58 W$Osteopetrosis, autosomal recessive 7- fuSpinocerebellar ataxia 40 ;(L'Spondylocarpotarsal synostosis syndromeC/Hemophagocytic lymphohistiocytosis, familial, 1^ ]JMycobacterial and viral infections, susceptibility to, autosomal recessive? f]+Ectodermal dysplasia/short stature syndromeN7 :Microcephalic osteodysplastic primordial dwarfism, type II(ʦSpinal arachnoiditis;'Pyruvate kinase deficiency of red cells; +E'Fanconi anemia, complementation group E6Myeloperoxidase deficiency x ZdMyopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delayB a.Peroxisome biogenesis disorder 12A (Zellweger)Q ^%=Megalencephalic leukoencephalopathy with subcortical cysts 2AO u;Neurodevelopmental disorder with epilepsy and brain atrophy3 d9Ciliary dyskinesia, primary, 24"Fryns syndrome[ tGCongenital heart defects, multiple types, 8, with or without heterotaxy3 `Systemic lupus erythematosus 16# _]Hypotrichosis 9D o+0Visual impairment and progressive phthisis bulbi*RGray platelet syndromeG j.3Autoimmune disease, multisystem, infantile-onset, 2Eb1Deafness, neural, with atypical atopic dermatitisX (:DMale pseudohermaphroditism/mental retardation syndrome, Verloes typeD j9,Charcot-Marie-Tooth disease, axonal, type 2T Gb3Dextrocardia with unusual facies and microphthalmiaD0Neurodegeneration with brain iron accumulation 1>*Multiple acyl-CoA-dehydrogenase deficiency*9Usher syndrome, type IF;2Tumoral calcinosis, hyperphosphatemic, familial, 1N Y:Brachyolmia 4 with mild epiphyseal and metaphyseal changes<9U(Ulnar hypoplasia with mental retardationS#y?Spinal muscular atrophy, type I, with congenital bone fractures7 g #Myasthenic syndrome, congenital, 22$.Lambert syndromeL8Neuromyotonia and axonal neuropathy, autosomal recessive- bBrachydactyly, type A1, CC i/Anemia, sideroblastic, 3, pyridoxine-refractory \pBrachydactyly, type A1, with short stature, scoliosis, microcephaly,ptosis, hearing loss, and mental retardation' eImmunodeficiency 232 dMyopia 23, autosomal recessive)BOsteoma of middle ear2 uMyopia 28, autosomal recessive/ nNephrotic syndrome, type 18J ]6Complement component 3 deficiency, autosomal recessiveHJ4Cleft larynx, posteriorstridor, congenital, included0 ^N-ACETYLASPARTATE DEFICIENCY# M\Majeed syndrome& WJoubert syndrome 87 e#Pontocerebellar hypoplasia, type 2EO u;Intellectual developmental disorder, autosomal recessive 766"SPERMATOGENIC FAILURE, X-LINKED, 2= ])Complement component 8 deficiency, type IA>-Cataract-Ataxia-Deafness-Retardation syndrome3 <Nemaline myopathy 5, Amish type+ jRetinitis pigmentosa 76$zBruck syndrome 1c njONeurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum' i$Immunodeficiency 46%D Mast syndrome R L>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1A m-Microcephaly 20, primary, autosomal recessiveG;3Vasculopathy, retinal, with cerebral leukodystrophy V [TBMuscular dystrophy, congenital, due to integrin alpha-7 deficiencyJ ]\6Leukoencephalopathy with dystonia and motor neuropathy?+Scapuloperoneal myopathy, X-linked dominant A|-Ichthyosis, congenital, autosomal recessive 1K a7Hypogonadotropic hypogonadism 8 with or without anosmiaNS:Cortical blindness, retardation, and postaxial polydactyly) t Cone-rod dystrophy 229/%Ataxia-Microcephaly-Cataract syndrome\k2DCerebellar ataxia, mental retardation, and dysequilibrium syndrome 1]IThrombophilia, hereditary, due to protein C deficiency, autosomaldominant! f@ AnalbuminemiaN`:Short-Rib thoracic dysplasia 6 with or without polydactyly<R(Mucopolysaccharidosis type IVB (Morquio)/\Hypophosphatasia, infantile= I)Cardiomyopathy, familial hypertrophic, 10 ( 7Cone-rod dystrophy 3(9Urocanase deficiencyC 6/Leukoencephalopathy with vanishing white matter, rSpermatogenic failure 50> _ *Nail disorder, nonsyndromic congenital, 106 P"Leukodystrophy, hypomyelinating, 57PConotruncal heart malformationsS;Myopathy, granulovacuolar lobular, with electrical myotonia\ uFHImmunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias6 a"Osteogenesis imperfecta, type XIII h= Cataract 44' dImmunodeficiency 179 )%Arterial dissection with lentiginosis8 !$Wolfram syndrome, mitochondrial formAi>-Dwarfism, proportionate, with hip dislocation! X^ C6 deficiency/ c1Ataxia-Oculomotor apraxia 3< \v$Immunodeficiency, common variable, 4 Nv:Epiphyseal dysplasia of femoral head, myopia, and deafnessP n bv*Spastic paraplegia 56, autosomal recessivePՐ j*Mental retardation, autosomal recessive 57$ )Band heterotopia9 eH%Polymicrogyria, bilateral perisylvian=<)Cardioauditory syndrome of sanchez cascos2Craniometadiaphyseal dysplasiaA-Ichthyosis, congenital, autosomal recessive 29 qo%Retinal dystrophy with leukodystrophyk pWNeurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, pSpermatogenic failure 43; k'FANCONI ANEMIA, COMPLEMENTATION GROUP U(Fundus albipunctatusT n@Mitochondrial complex V (ATP synthase) deficiency nuclear type 5'*Testes, rudimentaryP 7d _*Mental retardation, autosomal recessive 31;:,'Bulbar palsy, progressive, of childhoodNZ:Cystinosis, late-onset juvenile or adolescent nephropathicIQ85Corneal endothelial dystrophy and perceptive deafnessY . ELung agenesis, congenital heart defects, and thumb anomalies syndrome" 'Eiken syndrome/ 8Cardiomyopathy, dilated, 1H @ rh,Neuropathy, distal hereditary motor, type VC z +fTibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies? m+Congenital heart defects, multiple types, 51V.Craniotelencephalic dysplasia8 u$Myopathy, congenital, nonprogressive; 5K'Fanconi anemia, complementation group FH ii4Hyperphosphatasia with mental retardation syndrome 6  AMME complex )Stiff-Person syndrome N P:Myasthenic syndrome, congenital, with tubular aggregates 1F n2Mitochondrial complex I deficiency, nuclear type 5:r&Lymphedema-Hypoparathyroidism syndromeF W*2Epidermolysis bullosa simplex with pyloric atresia-zFarber lipogranulomatosis4 \ Hyperoxaluria, primary, type III: &Hall-Riggs mental retardation syndromeZ LFMental retardation, keratoconus, febrile seizures, and sinoatrialblockC K$/Combined oxidative phosphorylation deficiency 1C./Thrombotic thrombocytopenic purpura, hereditary1 Q4Leber congenital amaurosis 12NG:Cholestasis with gallstone, ataxia, and visual disturbance5 Qz!Osteogenesis imperfecta, type VII. k$Uncombable hair syndrome 38TX$Cranial nerves, recurrent paresis of'Ragweed sensitivity 6 b"Myasthenic syndrome, congenital, 8+ uERetinitis pigmentosa 93=9)Brachydactyly, type A2, with microcephalyR k>Immunoskeletal dysplasia with neurodevelopmental abnormalitiesF Id2Mandibuloacral dysplasia with type B lipodystrophy+ ]Meier-Gorlin syndrome 2;`'Hypospadias-Mental retardation syndromeaCMCraniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome8 fb$2,4-Dienoyl-Coa reductase deficiency( ABETALIPOPROTEINEMIA0 ^Cranioectodermal dysplasia 3C/Leukodystrophy, adult-onset, autosomal dominant % ]Seckel syndrome 5S?Candidiasis, familial chronic mucocutaneous, autosomal dominant23 feCiliary dyskinesia, primary, 306 f"Leukodystrophy, hypomyelinating, 98 @$Ehlers-Danlos syndrome, classic-likeE >q1Myasthenic syndrome, congenital, 4A, slow-channelG q3Mitochondrial complex I deficiency, nuclear type 35KI3Choroid plexus calcification and mental retardationA ZU-Epileptic encephalopathy, early infantile, 39, oSpermatogenic failure 37H b4Mitochondrial complex III deficiency, nuclear type 4;#'Spinocerebellar ataxia with dysmorphismO gl;Short-Rib thoracic dysplasia 13 with or without polydactylyVBBranchial myoclonus with spastic paraparesis and cerebellar ataxia A b^-Epileptic encephalopathy, early infantile, 15; *Oral and digital anomalies with ichthyosis''Anonychia congenitaX iDImmunodeficiency-centromeric instability-facial anomalies syndrome 41 7Keratosis pilaris atrophicans` oLNeurodevelopmental disorder with microcephaly and structural brain anomalies. \Forsythe-Wakeling syndrome4 O Deafness, autosomal recessive 65Bpx.Ehlers-Danlos syndrome, kyphoscoliotic type, 1$Hartnup disorder0`Glycogen storage disease VIInoZEctodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum.pEllis-Van creveld syndrome, pSpermatogenic failure 40OPp;Convulsive disorder, familial, with prenatal or early onset+ qPseudo-Torch syndrome 3A 4 -Congenital disorder of glycosylation, type Ic4 \ Deafness, autosomal recessive 84> q*Spastic paraplegia 82, autosomal recessive,xSjogren-Larsson syndromeP* q*Spastic paraplegia 81, autosomal recessiveD k0Autoinflammation with arthritis and dyskeratosis3 ]Osteogenesis imperfecta, type XA g-Epileptic encephalopathy, early infantile, 28"=Wilson diseaseH e4Mitochondrial complex III deficiency, nuclear type 7n tOZEpidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessiveH44Acheiropody acheiropodia acheiropody, Brazilian type(Prune belly syndrome3 B9Glut1 deficiency syndrome 1UAEpilepsy, progressive myoclonic, 4, with or without renal failure= -%Short stature syndrome, Brussels type> gM*Mental retardation, autosomal recessive 48% bCowden syndrome 5 : E&Hypereosinophilic syndrome, idiopathicI l5Structural heart defects and renal anomalies syndrome8E$Charcot-Marie-Tooth disease, type 4A[ _GEncephalopathy due to defective mitochondrial and peroxisomal fission 1B`.Ophthalmoplegia totalis with ptosis and miosis:.&Macrosomia with microphthalmia, lethal, pSpermatogenic failure 41> h *Mental retardation, autosomal recessive 50` ]LHyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndromeO sb;Megacystis-microcolon-intestinal hypoperistalsis syndrome 3' FNAlzheimer disease 3 ' aImmunodeficiency 30) q.Beck-Fahrner syndrome; ^'Fanconi anemia, complementation group LL f^8Hypogonadotropic hypogonadism 22 with or without anosmiai vUDevelopmental delay with short stature, dysmorphic facial features, and sparse hair 2K7Molybdenum cofactor deficiency, complementation group B& PIMevalonic aciduria1eLysinuric protein intoleranceJ p 6Mitochondrial DNA depletion syndrome 16 (hepatic type)G o 3Mitochondrial complex I deficiency, nuclear type 31@ u,Epidermolysis bullosa, junctional 2B, severePThrombophilia due to protein S deficiency, autosomal recessivedqPEncephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts6"z"Spherocytosis, autosomal recessive$ ZCone dystrophy 40 v#Cardiac valvular dysplasia 25 t*Spastic paraplegia 86, autosomal recessive(Reticular dysgenesia'DHoloprosencephaly 14 j Familial adenomatous polyposis 4;L'Cleft palate, deafness, and oligodontiaX DPolycystic kidney disease 4 with or without polycystic liver disease- DBothnia retinal dystrophyy qeMuscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15@ f,Charcot-Marie-Tooth disease, axonal, type 2SB S.Congenital disorder of glycosylation, type IIg3 h!Ciliary dyskinesia, primary, 32: 3"Myasthenic syndrome, congenital, 5 #ODAchromatopsia 22 `Trichohepatoenteric syndrome 2, dgCandidiasis, familial, 8- ^Hepatic lipase deficiency> V*Spastic paraplegia 39, autosomal recessiveI5Robin sequence with cleft mandible and limb anomaliesL8Amelogenesis imperfecta, type IG (enamel-renal syndrome)* 8ACERULOPLASMINEMIA B u.Developmental and epileptic encephalopathy 1068 A$Uveal melanoma, susceptibility to, 1 Q o*=Hyper-Ige recurrent infection syndrome 3, autosomal recessiveJ jj6Muscular dystrophy, congenital, Davignon-Chauveau type9%N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY4 T{ Deafness, autosomal recessive 63f8RBladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT' iPJoubert syndrome 26O m-;Intellectual developmental disorder, autosomal recessive 61N:Granulomatous disease with defect in neutrophil chemotaxis"Scott syndrome_KHypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included< g_(Lethal congenital contracture syndrome 8E lw1Proteasome-Associated autoinflammatory syndrome 3 TpRenal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive faciesC/Hypohidrosis with abnormal palmar dermal ridges@ H,Microcephaly, primary autosomal recessive, 6O o;Intellectual developmental disorder, autosomal recessive 70O Q;Immunodeficiency due to defect in mapbp-interacting protein' bPerrault syndrome 2& 4Dermatitis, atopic/ tOocyte maturation defect 12btNEpidermolysis bullosa, late-onset localized junctional, with mentalretardation> k6*Mental retardation, autosomal recessive 58; c#Ceroid lipofuscinosis, neuronal, 13 = t|)Immunodeficiency 91 and hyperinflammation, lhSpermatogenic failure 18D:0Cholestasis, progressive familial intrahepatic 1+ ]Meier-Gorlin syndrome 4+Spermatogenic failure 2h rqTNeurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities(Central core diseaseR U>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4+ ]|Retinitis pigmentosa 498 0$Spondylometaphyseal dysplasia, axial2Osteolysis syndrome, recessive+ W Oculoauricular syndrome' >|Nonaka myopathy S b?Retinal dystrophy, iris coloboma, and comedogenic acne syndrome)eDiastrophic dysplasia4 Z Cardiomyopathy, dilated, 1BB % Ackerman syndrome' m!Joubert syndrome 31. rOocyte maturation defect 8q h[]Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay@ _u,Microcephaly-Capillary malformation syndrome5p!Myosclerosis, autosomal recessive.dGM1-gangliosidosis, type Ie sQNeurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasiaX l/DNeurodevelopmental disorder with hypotonia, neuropathy, and deafnessB J.Mitochondrial trifunctional protein deficiency= n)Extraoral halitosis due to MTO deficiencyJ q]6Vertebral, cardiac, renal, and limb defects syndrome 3. EGriscelli syndrome, type 2M 6)9Myopathy, myofibrillar, 9, with early respiratory failure `nMultiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects-pRothmund-Thomson syndromeA5"-3-Methylcrotonyl-CoA carboxylase 2 deficiency9N%Coloboma, ocular, autosomal recessive5 ZDGlycogen storage disease XIII >!l*Spastic paraplegia 15, autosomal recessive4 < Deafness, autosomal recessive 26<(Megalocornea-Mental retardation syndromeQ JD=Carnitine palmitoyltransferase II deficiency, lethal neonatal>E*Klippel-Feil syndrome, autosomal recessive5 rU!Deafness, autosomal recessive 116. l{Birk-Landau-Perez syndrome& f{Mirror movements 32 nBone marrow failure syndrome 4&pBjornstad syndrome8$Immunodeficiency 59 and hypoglycemiaW ^CImmunodeficiency-Centromeric instability-facial anomalies syndrome2@ 9R,Amegakaryocytic thrombocytopenia, congenitaln c ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11> \*Ectodermal dysplasia-syndactyly syndrome 2L e8Familial idiopathic steroid-resistant nephrotic syndrome" KMYOTILINOPATHY ? _y+Combined malonic and methylmalonic aciduriaA h-Epileptic encephalopathy, early infantile, 35+6T-SUBSTANCE ANOMALY5 l!Epiphyseal dysplasia, multiple, 7QN=Cutaneous mastocytosis, conductive hearing loss, and microtiao r[Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies[GCarnitine palmitoyltransferase II deficiency, myopathic, stress-inducedZ oFGlobal developmental delay, progressive ataxia, and elevated glutamineD e0Combined oxidative phosphorylation deficiency 20' l]Perrault syndrome 60 ddMicrophthalmia, syndromic 12R k}>Cerebroretinal microangiopathy with calcifications and cysts 26"Leber congenital amaurosis, type IB `.Ehlers-Danlos syndrome, kyphoscoliotic type, 2D0Myopathy with exercise intolerance, Swedish type=)Omphalocele-Cleft palate syndrome, lethal5 n!Deafness, autosomal recessive 111/ UCardiomyopathy, dilated, 1XD _0Neurodegeneration with brain iron accumulation 40 rPremature ovarian failure 17( fOvarian dysgenesis 45O!Complement component 2 deficiencyA Q-Congenital disorder of glycosylation, type Im$ riCOACH syndrome 35 b !Deafness, autosomal recessive 84B# `Hyperekplexia 2H;4Methylmalonic aciduria and homocystinuria, Cbld typef nRMicrocephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, JCd8 deficiency, familiali [#UMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1} JiSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive/|Prepapillary vascular loopsZ `cFMental retardation, autosomal recessive 34, with variant lissencephalyB ,.Ichthyosis, congenital, autosomal recessive 4A2 ICiliary dyskinesia, primary, 5' dImmunodeficiency 15'J0Cirrhosis, familial.,Nephrotic syndrome, type 15 dj!Parkinson disease 20, early-onsetJL$6Cleft lip/palate with abnormal thumbs and microcephaly3XMuscular dystrophy, Becker type X `@Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome < ][(Muscular dystrophy, limb-girdle, type 2QB -.Chorea, remitting, with nystagmus and cataract'Perrault syndrome 1'MPCockayne syndrome A(Retinitis pigmentosaC m/Erythrokeratodermia variabilis et progressiva 52Properdin deficiency, X-linked' t*Joubert syndrome 396 s"Short stature, Dauber-Argente typeA (-Deafness, neurosensory, autosomal recessive 3/ :]Cardiomyopathy, dilated, 1I F j=2Hydrops, lactic acidosis, and sideroblastic anemia$ rgCoach syndrome 2/ GHermansky-Pudlak syndrome 26 h;"Osteogenesis imperfecta, type XVII5!Spinal muscular atrophy, type III',Isovaleric acidemiaI J5Spondylometaphyseal dysplasia with cone-rod dystrophy8~$Osteopetrosis, autosomal recessive 2& TJoubert syndrome 7> W*Spastic paraplegia 35, autosomal recessive+ RCPotocki-Lupski syndromeB ^d.Dyskeratosis congenita, autosomal recessive, 3K*7Retinitis pigmentosa with or without skeletal anomalies6L"Methemoglobin reductase deficiency"Leigh syndrome8 <$Segawa syndrome, autosomal recessiveX gYDNeurodevelopmental disorder with microcephaly and spastic paraplegia, lySpermatogenic failure 208 _9$Bleeding disorder, platelet-type, 11J j66Neutropenia, severe congenital, 7, autosomal recessiveULABiotinidase deficiencymultiple carboxylase deficiency, late-onset' NImmunodeficiency 54A?c*Cerebellar ataxia and ectodermal dysplasia/ Q?Cataract 11, multiple types2 GTropical calcific pancreatitis)|Fibrochondrogenesis 1;y='Fanconi anemia, complementation group Cw ucNeurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies' `Joubert syndrome 17D:0Oculodentodigital dysplasia, autosomal recessive> i*Spastic paraplegia 76, autosomal recessive6="Cataract and congenital ichthyosisP S*Mental retardation, autosomal recessive 11C `/Combined oxidative phosphorylation deficiency 9H u4Mitochondrial DNA depletion syndrome 20 (MNGIE type)>*Multiple self-healing squamous epithelioma 9%Lipoid congenital adrenal hyperplasia: qX&Alopecia-mental retardation syndrome 40kDysmyelination with jaundice] m#IShort stature, hearing loss, retinitis pigmentosa, and distinctive faciesZ oFGonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy)FNuchal bleb, familial0 uPremature ovarian failure 20Ap-Hypophosphatemic rickets, autosomal recessiveN~L:Fibuloulnar aplasia or hypoplasia with renal abnormalities, tAnemia, sideroblastic, 54 ^^ Osteogenesis imperfecta, type VI= )))Hereditary motor and sensory neuropathy V K q`7Muscular dystrophy, limb-girdle, autosomal recessive 26H l0Combined oxidative phosphorylation deficiency 33 3 sCiliary dyskinesia, primary, 46G Z}3Optic atrophy 7 with or without auditory neuropathyB Cs.Congenital disorder of glycosylation, type IID= j>)Lethal congenital contracture syndrome 10:"Ceroid lipofuscinosis, neuronal, 1= -)Agammaglobulinemia 1, autosomal recessiveMT5Neuropathy, hereditary sensory and autonomic, type II1 @Hypotonia-cystinuria syndrome4 Alpha-Methylacetoacetic aciduriaK7Molybdenum cofactor deficiency, complementation group AQ j=Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), f4Bardet-Biedl syndrome 11, nfSpermatogenic failure 28D .0Cholestasis, progressive familial intrahepatic 2, ssSpermatogenic failure 54S 7?Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 4 o Deafness, autosomal recessive 94S ,?Porencephaly, cerebellar hypoplasia, and internal malformations=~)Achalasia-Addisonianism-Alacrima syndrome> d*Spastic paraplegia 57, autosomal recessive+ \XRetinitis pigmentosa 513 Sea-Blue histiocyte disease 6"Cataract 13 with adult i phenotype< I(Cardiomyopathy, familial hypertrophic, 87 m#Osteogenesis imperfecta, type XVIII8$Hutchinson-Gilford progeria syndromei tKUDevelopmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities' rvImmunodeficiency 75Dx0Faciodigitogenital syndrome, autosomal recessive0 rPremature ovarian failure 18/ rNephrotic syndrome, type 23r j"^Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2< En(Lethal congenital contracture syndrome 21 YhLeber congenital amaurosis 13V><BCataract, microcephaly, failure to thrive, kyphoscoliosis syndrome" Omodysplasia 1& qLiberfarb syndrome1Immunoglobulin A deficiency 1G o3Mitochondrial complex I deficiency, nuclear type 21L`8Deafness, conductive, with ptosis and skeletal anomaliesAD^-Peroxisome biogenesis disorder 2A (Zellweger)P/|Thrombophilia due to protein C deficiency, autosomal recessive+ ]Meckel syndrome, type 8O c;Multiple congenital anomalies-hypotonia-seizures syndrome 3G o3Arthrogryposis multiplex congenita 3, myogenic type+ hSenior-Loken syndrome 9Q Z=Neurodegeneration due to cerebral folate transport deficiency\ ]HMethylmalonic aciduria, transient, due to transcobalamin receptor defect@ hi,Dyskeratosis congenita, autosomal dominant 6C/Myasthenic syndrome, congenital, 6, presynapticG o3Mitochondrial complex I deficiency, nuclear type 18x adT-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS%xGitelman syndrome9 U%Bestrophinopathy, autosomal recessive0\2Ritscher-Schinzel syndrome 1$ Roberts syndrome/ DGlucocorticoid deficiency 2D60Microcephalic primordial dwarfism, Toriello type1 tMucopolysaccharidosis, type X)xFactor VII deficiencyH G4Slowed nerve conduction velocity, autosomal dominant ] p^INeurodevelopmental disorder with brain anomalies, seizures, and scoliosis= t)Agammaglobulinemia 9, autosomal recessive; l'Joint laxity, short stature, and myopia8 S$Charcot-Marie-Tooth disease, type 4JW jCCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2BP a^Gaze palsy, familial horizontal, with progressive scoliosis, 1M9Macrocephaly/megalencephaly syndrome, autosomal recessiveL8Basal ganglia calcification, idiopathic, childhood-onsetR j[>Neurodevelopmental disorder with microcephaly and gray sclerae5!Methylmalonic aciduria, Cbla typeO o7;Intellectual developmental disorder, autosomal recessive 67> pM*Hypothyroidism, congenital, nongoitrous, 7& WJoubert syndrome 94 ^ Deafness, autosomal recessive 29R6Inosine phosphorylase deficiency, immune defect due to 1Kenny-caffey syndrome, type 16g"Disorganization, mouse, homolog ofK7Seizures, benign familial neonatal, autosomal recessive= YT)Agammaglobulinemia 6, autosomal recessiveP# r*Spastic paraplegia 83, autosomal recessive<(Nemaline myopathy 2, autosomal recessive9 h%Immunodeficiency, common variable, 12 1 OAnterior segment dysgenesis 2g pSIntellectual developmental disorder with short stature and behavioral abnormalitiesH 4Pulmonary hypertension, primary, autosomal recessiveG)3Antithrombin, familial hemorrhagic diathesis due to1 cLeber congenital amaurosis 17R +>Aplasia cutis congenita, high myopia, and cone-rod dysfunction> j*Mental retardation, autosomal recessive 56@ qb,Hypervalinemia or hyperleucine-isoleucinemia# -Ribbing disease'>Martsolf syndrome 1E-Hypermetabolism due to defect in mitochondria' q_Immunodeficiency 66E Z1Macrocephaly, alopecia, cutis laxa, and scoliosis/ TCataract 17, multiple types/Adenylosuccinase deficiencyA o-Charcot-Marie-Tooth disease, axonal, type 2EEE i1Spasticity, childhood-onset, with hyperglycinemiaJ I6Epilepsy, idiopathic generalized, susceptibility to, 3A"-Acromesomelic dysplasia, Hunter-Thompson typeM V9Alopecia, neurologic defects, and endocrinopathy syndrome7 V#Coenzyme Q10 deficiency, primary, 4@ B0,Myopathy, distal, with anterior tibial onset' dImmunodeficiency 16= u)Immunodeficiency 97 with autoinflammation/ e,Premature ovarian failure 9. fMyopathy, centronuclear, 5`LHypertrichosis terminalis, generalized, with or without gingival hyperplasia;'Hyperphenylalaninemia, BH4-deficient, BF n2Mitochondrial complex I deficiency, nuclear type 7 L` Cataract 35> L<*Spastic paraplegia 28, autosomal recessive6 e"Pontocerebellar hypoplasia, type 9+AREDYLD7 @#Primary lateral sclerosis, juvenileA T-Arrhythmogenic right ventricular dysplasia 12 :<&Carnitine deficiency, systemic primaryOX;Ichthyosis, hepatosplenomegaly, and cerebellar degeneration+@Polydactyly, preaxial Ig +SIchthyosis-Mental retardation syndrome with large keratohyalin granules in the skinI oC5Epidermodysplasia verruciformis, susceptibility to, 4+ f/Bardet-Biedl syndrome 5*:Desbuquois dysplasia 1:;&Rickets, vitamin D-resistant, type IIAD j0Short-rib thoracic dysplasia 15 with polydactyly, rSpermatogenic failure 51< t(Trichothiodystrophy 9, nonphotosensitiveE =-Charcot-Marie-Tooth disease, axonal, type 2B2 D t0Hypogonadotropic hypogonadism 27 without anosmiaB k *Spastic paraplegia 78, autosomal recessive B `>.Hyperglycinemia, lactic acidosis, and seizures6 ^x"Nestor-Guillermo progeria syndrome; dO'Short rib-polydactyly syndrome, type VI#German syndrome\ YBHPolyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract$ KPierson syndrome?v+Ichthyosis, split hairs, and amino aciduria, -Stuve-Wiedemann syndromeC P/Combined oxidative phosphorylation deficiency 29 PB%Diarrhea 4, malabsorptive, congenitalH d4Mitochondrial complex III deficiency, nuclear type 6& _Muscle hypertrophy! O6 C7 deficiencyM79Microcephalic osteodysplastic primordial dwarfism, type I>*Autoimmune polyendocrine syndrome, type II> S*Mental retardation, autosomal recessive 10- gfCole-Carpenter syndrome 2R;H:Visceral myopathy, familial, with external ophthalmoplegia* RXFE progeroid syndrome1 lSpecific granule deficiency 2= S)Mental retardation, autosomal recessive 9Q o=Immunodeficiency 63 with lymphoproliferation and autoimmunity d SARCOSINEMIA6 b1"Pontocerebellar hypoplasia, type 8= s)Cardiomyopathy, familial hypertrophic, 28 7 D#Coenzyme Q10 deficiency, primary, 1D ik0Combined oxidative phosphorylation deficiency 29' QNemaline myopathy 70 \Cranioectodermal dysplasia 2F ub2Cholestasis, progressive familial intrahepatic, 111 pLeber congenital amaurosis 198$Osteopetrosis, autosomal recessive 3& dHYPERPROLACTINEMIAA J-Congenital disorder of glycosylation, type IE6Neurofaciodigitorenal syndrome/ V(Cardiomyopathy, dilated, 2A; ?'Diabetes mellitus, permanent neonatal 17 pn#Pontocerebellar hypoplasia, type 13xURdCraniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosisO;Myotonia with skeletal abnormalities and mental retardation$YlCYSTATHIONINURIA+ -Martinez-Frias syndrome,Wolf-Hirschhorn syndromeA m-Microcephaly 21, primary, autosomal recessive/ tCardiomyopathy, dilated, 2F; B{'Immunodeficiency with hyper-igm, type 3YEHypertrichosis, congenital anterior cervical, with peripheral sensory- Pseudotrisomy 13 syndrome+ _AMeckel syndrome, type 9$ Alkaptonuria 7#Isovaleric acid, inability to smell[ j~GEncephalopathy due to defective mitochondrial and peroxisomal fission 2+ h`Retinitis pigmentosa 73' _ Hyperbiliverdinemia"]TDoors syndrome/ \Glycogen storage disease XV/|Polycystic ovary syndrome 1, uSpermatogenic failure 67+ oiRetinitis pigmentosa 85-9Usher syndrome, type IIIA/ ^Heme oxygenase-1 deficiency0Gm1-gangliosidosis, type IIIj cVMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14;'Paget disease of bone 5, juvenile-onsetF 2Vitamin D hydroxylation-deficient rickets, type 1A8 -$Dyssegmental dysplasia with glaucomaC f/Macular dystrophy with central cone involvementF a2Amelogenesis imperfecta, hypomaturation type, iia4D qS0Combined oxidative phosphorylation deficiency 40? j^+Striatonigral degeneration, childhood-onsetK?h3Cerebellar ataxia and hypogonadotropic hypogonadismU6AGyrate atrophy of choroid and retina with or without ornithinemiaC#/Spinal muscular atrophy with mental retardation4= Lysosomal acid lipase deficiency< t(Parkinsonism-dystonia 3, childhood-onset5ʂ!Manitoba oculotrichoanal syndrome5RMacular dystrophy, corneal, 1R>Hemolytic anemia, nonspherocytic, due to hexokinase deficiencyG q3Mitochondrial complex I deficiency, nuclear type 34U fARetinal dystrophy, juvenile cataracts, and short stature syndrome, lxSpermatogenic failure 19\ pHNeurodevelopmental disorder with epilepsy, spasticity, and brain atrophy_ lKEncephalopathy, progressive, early-onset, with brain atrophy and spasticityP Microcephaly, short stature, and impaired glucose metabolism 1# C&Hurler syndrome%T Gapo syndrome0$Macrosomia adiposa congenita^JUridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue toF ip2Hypotonia, infantile, with psychomotor retardation6"Ceroid lipofuscinosis, neuronal, 2VdBNonarteritic anterior ischemic optic neuropathy, susceptibility to\ IpHMidface hypoplasia, obesity, developmental delay, and neonatal hypotonia1 f Hyperlipoproteinemia, type IDE1Hypertelorism, microtia, facial clefting syndrome> du*Mental retardation, autosomal recessive 39{ q-gNeurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulationD d0Arthrogryposis, mental retardation, and seizures0 PAicardi-Goutieres syndrome 3# q Catifa syndrome.Leprosy, susceptibility to A n-Microcephaly 24, primary, autosomal recessive[ i4GSpastic paraplegia and psychomotor retardation with or without seizures olHypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities,+173470 integrin, beta-3- nmSpinocerebellar ataxia 48 3 d:Ciliary dyskinesia, primary, 25? r+Insulin-Like growth factor I, resistance toG n3Glycosylphosphatidylinositol biosynthesis defect 17A f-Microcephaly 12, primary, autosomal recessiveJ 2Insensitivity to pain, congenital, with anhidrosis #HPycnodysostosisPPX*Cutis laxa, autosomal recessive, type IIIAC Z/Hemophagocytic lymphohistiocytosis, familial, 5b uNNeurodevelopmental disorder with spasticity, seizures, and brain abnormalities+LKapur-Toriello syndrome: b&Ectodermal dysplasia 6, Hair/nail type+ qRetinitis pigmentosa 90v qbMyopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic faciesn dZVentricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness? I'Insulin-Like growth factor I deficiencym o4YNeurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia8.$Renal-hepatic-pancreatic dysplasia 1D _0Inflammatory skin and bowel disease, neonatal, 11 Exudative vitreoretinopathy 1 A a-Peroxisome biogenesis disorder 7A (zellweger)= 6)Hypercholesterolemia, autosomal recessive5!Glaucoma 3, primary congenital, A6 a"Peroxisome biogenesis disorder 11Bb pKNNeurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies.XJohanson-Blizzard syndrome( _Ovarian dysgenesis 38 L$Charcot-marie-tooth disease, type 4H& ;Wolfram syndrome 2? kJ+Epilepsy, early-onset, vitamin b6-dependenth sTNeurodevelopmental disorder with motor and speech delay and behavioral abnormalities#mEbstein anomalyF n 2Tumoral calcinosis, hyperphosphatemic, familial, 3= j)Lethal congenital contracture syndrome 118<$Camptomelic syndrome, Long-Limb typey (NeAutosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)G S63Mitochondrial complex I deficiency, nuclear type 20Dx0Nystagmus, congenital motor, autosomal recessiveD Y,Sodium-Potassium-Atpase activity of red cell>/^*Dihydropyrimidine dehydrogenase deficiencyA q(-Epileptic encephalopathy, early infantile, 84I )5Myopathy, lactic acidosis, and sideroblastic anemia 1F n 2Tumoral calcinosis, hyperphosphatemic, familial, 2Z [FHydrops fetalis, nonimmune, with gracile bones and dysmorphic features> h*Spastic paraplegia 9B, autosomal recessiveRU>Craniosynostosis with anomalies of the cranial base and digits3Pancreatic agenesis, congenital) h6Cone-Rod dystrophy 21[ /`GKeratosis linearis with ichthyosis congenita and sclerosing keratodermaE g1Myasthenic syndrome, congenital, 4B, fast-channelG t3Charcot-Marie-Tooth disease, demyelinating, type 1H 0&Sudden infant death syndrome/ aCardiomyopathy, dilated, 2BCu/Epidermolysis bullosa with diaphragmatic hernia; .'Megaloblastic anemia, folate-responsiveR<>Homocystinuria-megaloblastic anemia, cblg Complementation type4 ]V Deafness, autosomal recessive 74F#2Spinocerebellar degeneration and corneal dystrophy,Musk, inability to smell. tYGalloway-Mowat syndrome 10V gBPulmonary fibrosis and/or bone marrow failure, telomere-related, 4 v qbNeurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity4 Fructose intolerance, hereditaryH4Fundus dystrophy, pseudoinflammatory, recessive form$ pSitosterolemia 2< -(Aprosencephaly and cerebellar dysgenesisH;4Methylmalonic aciduria and homocystinuria, Cblf type3RCorneal dystrophy, Central type> `V*Thrombophilia due to thrombomodulin defect -Maple syrup urine disease4 O_ Deafness, autosomal recessive 62C?/Cerebellar ataxia, benign, with thermoanalgesiaM Z:9Hemolytic uremic syndrome, atypical, susceptibility to, 2*lHyperlysinemia, type I` +LMidline malformations, multiple, with limb abnormalities and hypopituitarismGN3Myopathy, congenital, with fiber-type disproportionD [0Hypophosphatemic rickets, autosomal recessive, 29a<%Deafness, neural, congenital moderate5 eZ!Atrial fibrillation, familial, 152 V,Ciliary dyskinesia, primary, 78$Bleeding disorder, platelet-type, 17F,2Arterial calcification, generalized, of infancy, 1<(Muscular dystrophy, limb-girdle, type 2H[ iGMitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)#OJalili syndrome5 ]!Osteogenesis imperfecta, type XII4 3 Deafness, autosomal recessive 17J I2Aicar transformylase/imp cyclohydrolase deficiency/ CThyroid dyshormonogenesis 6T rB@Cleft palate, proliferative retinopathy, and developmental delay/ \2Cardiomyopathy, dilated, 1S '|Dwarfism, Levi type2&NSubaortic stenosis, membranous& LAl-Gazali syndrome3BTranscobalamin I deficiencye qQNeurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia-$Glaucoma 1, open angle, P G o3Mitochondrial complex I deficiency, nuclear type 233<Carnitine deficiency, myopathic-ъCartilage-hair hypoplasia(+hApnea, central sleep5 N!Peeling skin syndrome, Acral type' mJoubert syndrome 32o c[MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, cMeckel syndrome, type 11=)Hyperphosphatemia, polyuria, and seizures+ jPeeling skin syndrome 5$ bAlazami syndrome^JGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVEL,8Metachromatic leukodystrophy due to saposin B deficiency# sWHIM syndrome 2Dh0Orthostatic hypotension 1, due to DBH deficiency@H<,Rhizomelic chondrodysplasia punctata, type 1_ uKNeurodevelopmental disorder with speech delay and variable ocular anomaliesO79;Blepharophimosis with ptosis, syndactyly, and short staturev`bDeafness, nerve type, with mesenteric diverticula of small bowel andprogressive sensory neuropathy+͎Megaepiphyseal dwarfism,NAdducted thumbs syndromeNΜ:Intellectual developmental disorder, autosomal recessive 1b oLNIntellectual developmental disorder with cardiac defects and dysmorphic faciesA l-Epileptic encephalopathy, early infantile, 55O j;Short-Rib thoracic dysplasia 16 with or without polydactylyM Vb9Ventricular tachycardia, catecholaminergic polymorphic, 20 rPremature ovarian failure 19, (6Warburg micro syndrome 1>j*3-Hydroxyacyl-Coa dehydrogenase deficiency/ iNephrotic syndrome, type 138\$Jervell and Lange-Nielsen syndrome 1> g*Lissencephaly 7 with cerebellar hypoplasia; u~'Hepatorenocardiac degenerative fibrosis) f%Cone-Rod dystrophy 20& TNephronophthisis 7Rb>Ichthyosis, mental retardation, dwarfism, and renal impairment&GLUTATHIONURIA8D$Cerebrooculofacioskeletal syndrome 1, f9Bardet-Biedl syndrome 16$ o#Hypotrichosis 146 h#"Infantile liver failure syndrome 2, u4Spermatogenic failure 705!Peroxisome biogenesis disorder 2B%GalactosialidosisB /.Fibrosis of extraocular muscles, congenital, 2> ^*Spastic paraplegia 52, autosomal recessive6 T"Pontocerebellar hypoplasia, type 6)GCholesterol pneumonia6 tN"Rhizomelic dysplasia, Ain-Naz type$ȊSneddon syndrome' c'Immunodeficiency 56K J'7Muscular dystrophy, limb-girdle, autosomal recessive 104 X Amyotrophic lateral sclerosis 11 ' Rodrigues blindnessI u5Developmental delay, hypotonia, and impaired language0A a-Peroxisome biogenesis disorder 4A (Zellweger)= \~)Agammaglobulinemia 4, autosomal recessiveH r4Myopathy, epilepsy, and progressive cerebral atrophy& k%Seckel syndrome 10+Spermatogenic failure 60Chondrodysplasia, Grebe typeE g1Myasthenic syndrome, congenital, 3B, fast-channelH Y4Adenylate kinase deficiency, hemolytic anemia due to:k&Muscular atrophy, malignant neurogenic ; Y'Leukocyte adhesion deficiency, type III5 jl!Portal hypertension, noncirrhotic= .)Phosphoglycerate dehydrogenase deficiency5 n!Deafness, autosomal recessive 109+ Pili torti, early-onset- ISpinocerebellar ataxia 20 4 Glutamate monosodium sensitivityL.8Hair defect with photosensitivity and mental retardationkLymphopenic hypergammaglobulinemia, antibody deficiency, autoimmunehemolytic anemia, and glomerulonephritis- olGalloway-Mowat syndrome 7Y sEMyasthenic syndrome, congenital, 7B, presynaptic, autosomal recessiveM \9Agenesis of the corpus callosum and congenital lymphedemaAkd-Anemia, dyserythropoietic congenital, type II3 oCiliary dyskinesia, primary, 39Op;Spinal muscular atrophy with progressive myoclonic epilepsy, qLymphatic malformation 88 Q$Macular degeneration, age-related, 4 E r1Proteasome-associated autoinflammatory syndrome 5+ \Retinitis pigmentosa 578`$Hyperparathyroidism, neonatal severeT \@Disordered steroidogenesis due to cytochrome P450 oxidoreductase2eTrichohepatoenteric syndrome 1%HYDROXYPROLINEMIA' jJoubert syndrome 28K h7Epilepsy, hearing loss, and mental retardation syndrome-4Chanarin-Dorfman syndromeA m-Epileptic encephalopathy, early infantile, 63&8Hyper-Igd syndromeA c-Dyskeratosis congenita, autosomal recessive 5$@Paragangliomas 1 + ORetinitis pigmentosa 35H a4Methylmalonic aciduria and homocystinuria, Cblj type= \|)Agammaglobulinemia 2, autosomal recessive< >(Fanconi anemia, complementation group D1B@.Xeroderma pigmentosum, complementation group G0sMyopia 2, autosomal dominant/Glycogen storage disease Ib, f7Bardet-Biedl syndrome 142+Apolipoprotein C-II deficiency*9Elsahy-Waters syndrome< e(Morbid obesity and spermatogenic failure, r^Spermatogenic failure 47L p8Diencephalic-mesencephalic junction dysplasia syndrome 2A n-Microcephaly 23, primary, autosomal recessiveK h7Seizures, cortical blindness, and microcephaly syndromeA ]Z-Epileptic encephalopathy, early infantile, 12, lSpermatogenic failure 23/2Hypercalcemia, infantile, 1B@.Xeroderma pigmentosum, complementation group AVp(BEhlers-Danlos syndrome, autosomal recessive, cardiac valvular form2 oLymphoproliferative syndrome 3; p!'Robinow syndrome, autosomal recessive 2E jY1Cholestasis, progressive familial intrahepatic, 5A kA-Epileptic encephalopathy, early infantile, 49)0Ataxia-telangiectasiat `Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardationN ]:Short-Rib thoracic dysplasia 4 with or without polydactyly3 pCiliary dyskinesia, primary, 429 T>%Spastic ataxia 3, autosomal recessiveBW.Cutaneous photosensitivity and colitis, lethal, f8Bardet-Biedl syndrome 15L8Charcot-Marie-Tooth disease with ptosis and parkinsonism%)Tay-Sachs disease<2(Thyrotropin-Releasing hormone deficiencyF v 2Bone marrow failure and diabetes mellitus syndromeYANeurologic disease, infantile multisystem, with osseous fragility< b(Colorectal cancer, susceptibility to, 12 6 :"Muscular dystrophy, congenital, 1B?+Acrofacial dysostosis syndrome of rodriguez@;,Camptodactyly syndrome, guadalajara, type III Mv5Short stature and facioauriculothoracic malformations2 dAmyloidosis, cutaneous bullous8$Porphyria, congenital erythropoietic3 Y+ENDOCRINE-CEREBROOSTEODYSPLASIA" 0(Rhyns syndrome$ ]Masp2 deficiency; b'Maple syrup urine disease, mild variantD b 0Combined oxidative phosphorylation deficiency 11+ ]Retinitis pigmentosa 456 h\"Epilepsy, progressive myoclonic, 9::&Right ventricular hypoplasia, isolated, nSpermatogenic failure 31-ȶMacdermot-Winter syndromeB kh.Ichthyosis, congenital, autosomal recessive 12:&Hypomandibular faciocranial dysostosisJ 0X6Ventriculomegaly with defects of the radius and kidney1ˊDystonia 3, torsion, X-linked i JHUMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6"j*NONDISJUNCTIONA m-Epileptic encephalopathy, early infantile, 61- Y{Faciocardiomelic syndrome, stSpermatogenic failure 55+ c&Card11 immunodeficiency< `%(Cutis laxa, autosomal recessive, type IBH e4Mitochondrial complex III deficiency, nuclear type 8+ ]Retinitis pigmentosa 40R lF>Gaze palsy, familial horizontal, with progressive scoliosis, 20SCorpus callosum, agenesis ofw EcLeukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadismB.Anhidrosis, isolated, with normal sweat glands]EMyasthenia, congenital, refractory to acetylcholinesterase inhibitors7 OO#Ceroid lipofuscinosis, neuronal, 10C Iz/Neuronopathy, distal hereditary motor, type IIB O m;Short-Rib thoracic dysplasia 19 with or without polydactyly?ZR+Ventriculomegaly with cystic kidney disease/lGlycogen storage disease II/ ^Hermansky-Pudlak syndrome 83 DNewfoundland rod-cone dystrophy/ =Cardiomyopathy, dilated, 1K 4 O Deafness, autosomal recessive 67P [V*Spastic paraplegia 44, autosomal recessiveB.Ciliary dyskinesia with excessively long ciliaM H 9Deafness, congenital neurosensory, autosomal recessive 394 N Glutamine deficiency, congenitalR ]>Megaloblastic anemia due to dihydrofolate reductase deficiencyA k<-Developmental and epileptic encephalopathy 48\HAdrenal hypoplasia, congenital, with absent pituitary luteinizinghormone-~Echo virus 11 sensitivity '8Tyrosinemia, type I# M Nanophthalmos 23:Lymphoid interstitial pneumonia+ H|Retinitis pigmentosa 265:!Pulmonary venoocclusive disease 24 u Liver disease, severe congenitalL k8Aortic aneurysm, familial thoracic 11, susceptibility to > _@*Mental retardation, autosomal recessive 164 r ENDOVE syndrome, limb-brain type[~GAdrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency"yBFanconi anemiaL ,'8Fallot complex with severe mental and growth retardationE 01Cholestasis, progressive familial intrahepatic, 3F2Ehlers-Danlos syndrome, spondylodysplastic type, 1$ KEmanuel syndromeh 8TMicrocephaly 2, primary, autosomal recessive, with or without cortical malformationsA g-Microcephaly 14, primary, autosomal recessiveB g.Fibrosis of extraocular muscles, congenital, 55 l!Deafness, autosomal recessive 106@,Alpha-Ketoglutarate dehydrogenase deficiency$M(Coach syndrome 1/GM1-gangliosidosis, type IIB _.Spinocerebellar ataxia, autosomal recessive 12R -L>Microcephaly, corpus callosum dysgenesis, and cleft lip/palate+<\Carbimazole sensitivity,OCULOTRICHODYSPLASIA2Ciliary dyskinesia, primary, 1/ uyCardiomyopathy, dilated, 2GM ]9Rajab interstitial lung disease with brain calcifications/TMucolipidosis II alpha/beta4^ Microcephaly-Micromelia syndromeY oESpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3$dHYDROXYLYSINURIAJN6Pseudohermaphroditism, female, with skeletal anomalies@,Oculocerebral syndrome with hypopigmentation6"Ceroid lipofuscinosis, neuronal, 5< f(Monocarboxylate transporter 1 deficiency2 \rAlpha-1-Antitrypsin deficiency6 o"Amelogenesis imperfecta, type IIIC-Parana hard-skin syndrome3$Short-rib thoracic dysplasia 12' WImmunodeficiency 68Fl.Pseudohermaphroditism, male, with gynecomastia9 .%Spastic paraplegia and Evans syndromec (;OAtrioventricular septal defect with blepharophimosis and anal andradial defectsbNRod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction>&X*Subaortic stenosis--short stature syndrome-Acth deficiency, isolated3 jCiliary dyskinesia, primary, 357 r#Coenzyme Q10 deficiency, primary, 93 bCiliary dyskinesia, primary, 19( tOvarian dysgenesis 9UAOphthalmoplegic neuromuscular disorder with abnormal mitochondria- k*Myopathy, myofibrillar, 88/$Ataxia-Deafness-Retardation syndrome$hDuodenal atresia. mOocyte maturation defect 47 jB#Pontocerebellar hypoplasia, type 2F/ cmCataract 19, multiple types-vErythema of acral regions- :Huntington disease-like 3&A4Joubert syndrome 1> Q*Mitochondrial phosphate carrier deficiency+Senior-Loken syndrome 157L!Mismatch repair cancer syndrome 1' _Nephronophthisis 13]HIChondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndromeL a8Hypogonadotropic hypogonadism 11 with or without anosmiafsRComplement hyperactivation, angiopathic thrombosis, and protein-losing enteropathyk 8HWLeber congenital amaurosis-3 (LCA3)/Retinitis pigmentosa, juvenile, autosomal recessive4 p Osteogenesis imperfecta, type XX06Tryptophanuria with dwarfism, ufSpermatogenic failure 73?`+Hydrocephalus with associated malformations.Renal tubular acidosis III, tSpermatogenic failure 64$'Summitt syndrome% iISeckel syndrome 9C i/Dyskinesia, limb and orofacial, infantile-onset< -(Athabaskan brainstem dysgenesis syndromej l VNeurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies(Immunodeficiency 102 @ a,Microcephaly 8, primary, autosomal recessive0 rdSpermatogenic failure 48 > e*Spastic paraplegia 63, autosomal recessiveV aVBPulmonary fibrosis and/or bone marrow failure, telomere-related, 1 ! s VISS syndrome3 XCiliary dyskinesia, primary, 10B.Hutterite cerebroosteonephrodysplasia syndrome" t%SIMHA syndromeo L[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 @ `$,Charcot-Marie-Tooth disease, axonal, type 2P<(Muscular dystrophy, limb-girdle, type 2C4 o Deafness, autosomal recessive 999%Focal segmental glomerulosclerosis 10&'lGillespie syndrome= aU)Mitochondrial pyruvate carrier deficiencyO j7Retinal dystrophy with or without extraocular anomalies D s0Combined oxidative phosphorylation deficiency 539 o%Fetal akinesia deformation sequence 41bhDermochondrocorneal dystrophyC l6/Erythrokeratodermia variabilis et progressiva 4Y uEIntellectual developmental disorder with autism and dysmorphic facies4 dt Deafness, autosomal recessive 76+yFanconi-Bickel syndrome, ^Hydrolethalus syndrome 2#*Mcleod syndrome <B(Trichothiodystrophy 4, nonphotosensitives @"_Mental retardation, microcephaly, growth retardation, joint contractures,and facial dysmorphismn aZMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8+ ]Retinitis pigmentosa 38H m4Amyotrophic lateral sclerosis, susceptibility to, 25 ( YCone-Rod dystrophy 9-wFaciocardiorenal syndromer p^Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizuresk QTWPalmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal] s9IGrowth restriction, hypoplastic kidneys, alopecia, and distinctive facies/ iNephrotic syndrome, type 12> P5*Spastic paraplegia 30, autosomal recessive/ a Auriculocondylar syndrome 24 Amelogenesis imperfecta, type IE7 gp#Myasthenic syndrome, congenital, 17- KSchindler disease, type I0 rHermansky-Pudlak syndrome 11G 33Mitochondrial DNA depletion syndrome 1 (MNGIE type)T I@Deafness, autosomal recessive 32, with or without immotile spermC p'/Ectodermal dysplasia 15, Hypohidrotic/hair typeN%:Spondyloepiphyseal dysplasia tarda with mental retardation"Meleda disease=;)Ataxia with isolated vitamin E deficiencyf 8RCardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1; j0'Cerebral palsy, spastic quadriplegic, 3BCutis verticis gyrata, thyroid aplasia, and mental retardation2( uwHoloprosencephaly 14F u\2Cholestasis, progressive familial intrahepatic, 10& ]=Long QT syndrome 6 ' LNemaline myopathy 15!Retinal degeneration and epilepsy- PGaucher disease, atypical*8Bowen-Conradi syndrome=u)Nail disorder, nonsyndromic congenital, 1; q'Hypoparathyroidism, familial isolated 2>5*Spastic paraplegia 20, autosomal recessiveE5-3-Methylcrotonyl-CoA carboxylase 1 deficiency 02Cognitive function 1, social6 K"Ceroid lipofuscinosis, neuronal, 9; O'Glycosylphosphatidylinositol deficiencyR n>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8&-Thrombocytopenia 3H r64Mitochondrial complex IV deficiency, nuclear type 18X oDGastrointestinal ulceration, recurrent, with dysfunctional plateletsS;?VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1* GRetinitis pigmentosa 7- nOrthostatic hypotension 2= a)Cardiomyopathy, familial hypertrophic, 21 a mJMNeurodevelopmental disorder with microcephaly, seizures, and cortical atrophy% ],Seckel syndrome 4% DMeckel syndrome 3.|Nijmegen breakage syndromeK a7Spinal muscular atrophy, distal, autosomal recessive, 5,&Neuraminidase deficiencyF2Amelogenesis imperfecta, hypomaturation type, iia170#Atonic-Astatic syndrome of foerster: b&Ectodermal dysplasia 9, Hair/nail type -j THREONINEMIAA a-Peroxisome biogenesis disorder 3A (Zellweger)A-Hennekam lymphangiectasia-lymphedema syndrome& 8Nephronophthisis 3NS:Agenesis of the corpus callosum with peripheral neuropathy' KFoveal hypoplasia 2+Meckel syndrome, type 7$-Ascites, chylous. r{Osteogenesis imperfecta 21T I@Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire typex m\dNeurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive#>Hypotrichosis 8E`t1Deafness, conductive, with malformed external ear9 i%Heart and brain malformation syndromed ZPEncephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 29%Immunoosseous dysplasia, Schimke typeB.Amyloidosis, hereditary, transthyretin-related S qH?Basal ganglia calcification, idiopathic, 8, autosomal recessive2 NComplement factor H deficiencyZ pFNeuropathy, hereditary motor and sensory, type VIC, with optic atrophy0 f Orofaciodigital syndrome XIV> S*Mental retardation, autosomal recessive 12*(Laurence-Moon syndrome;C'Cerebrocortical degeneration of infancyj oVIntellectual developmental disorder with short stature and variable skeletal anomalies) ]Cone-rod dystrophy 15" )5CODAS syndromeU 8qAMitochondrial complex V (ATP synthase) deficiency, nuclear type 1,Hyperprolinemia, type IIK-f7Arthropathy, progressive pseudorheumatoid, of childhoodHCraniosynostosis-Mental retardation syndrome of lin and gettig_ ,KKDiaphragmatic defects, limb deficiencies, and ossification defects of skull= :)North american indian childhood cirrhosis8$LACTIC ACIDURIA DUE TO D-LACTIC ACID- tSGalloway-Mowat syndrome 9F `I2Arterial calcification, generalized, of infancy, 2# 1DESMOSTEROLOSIS? o+Spondyloepiphyseal dysplasia, Kondo-Fu type5!Sarcoidosis, susceptibility to, 1 . b3Leptin receptor deficiencyG r+3Mitochondrial complex IV deficiency, nuclear type 79%3-methylglutaconic aciduria, type III$0Pendred syndromeb nNPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2V iBCerebellar atrophy, visual impairment, and psychomotor retardationH`4Mitochondrial complex III deficiency, nuclear type 13mSchopf-Schulz-Passarge syndrome+ ]Retinitis pigmentosa 59<y>(Fanconi anemia, complementation group D2n~ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1L%4Anemia, hypochromic microcytic, with iron overload 1Ku7Epidermolysis bullosa, junctional, with pyloric atresia4 8 Left ventricular noncompaction 1 jsLanguage delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmiaB@.Xeroderma pigmentosum, complementation group Ej r[VIntellectual developmental disorder with speech delay and axonal peripheral neuropathy7#Pa polymorphism of alpha-2-globulin&vMcdonough syndrome/1Orofaciodigital syndrome IX.&Angiolipomatosis, familial)<Urbach-Wiethe diseaseJ eG6Hyperammonemia due to carbonic anhydrase VA deficiency9 o%Fetal akinesia deformation sequence 3? )(+Aplasia cutis congenita of limbs, recessive(PYKNOACHONDROGENESISo cQ[MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12^ - JChondrodysplasia, lethal, with long bone angulation and mixed bone density .AOBESITY= g )Chronic atrial and intestinal dysrhythmiaK _7Emery-Dreifuss muscular dystrophy 7, autosomal dominant 7 `#Coenzyme Q10 deficiency, primary, 6/<`Weill-Marchesani syndrome 1=f)Sucrase-isomaltase deficiency, congenitalG/3Thumb agenesis, short stature, and immunodeficiency5ZMonocyte chemotactic disorder6 MY"Chromosome 10Q26 deletion syndrome+ 4:Meckel syndrome, type 2-Papillon-Lefevre syndromeA I-Congenital disorder of glycosylation, type Iki%QAnemia, nonspherocytic hemolytic, associated with abnormality of redcell membrane$$Multiple myeloma Q=Ichthyosiform erythroderma, corneal involvement, and deafness+ nRetinitis pigmentosa 84/Erythrocytosis, familial, 2D \0Factor V and factor VIII, combined deficiency of+ aUsher syndrome, type IJMyxedema0 ] Cardiomyopathy, dilated, 1GG3 aCiliary dyskinesia, primary, 188Š$Miller-Dieker lissencephaly syndrome, D^Smith-Mccort dysplasia 12s5Myopathy, tubular aggregate, 1 B _U.Spinocerebellar ataxia, autosomal recessive 11D a.0Combined oxidative phosphorylation deficiency 10'fNeuropathy, painful.Marinesco-Sjogren syndromeD m0Combined oxidative phosphorylation deficiency 34, f;Bardet-Biedl syndrome 18@ 8,Microcephaly 4, primary, autosomal recessive> [**Spastic paraplegia 45, autosomal recessive-դGalloway-mowat syndrome 12Jumping frenchman of maineU pACerebellar atrophy with seizures and variable developmental delayO L;Syndactyly, mesoaxial synostotic, with phalangeal reduction-) Tatsumi factor deficiencyB Mn.Deafness, neurosensory, autosomal recessive 42_ UKEpilepsy, progressive myoclonic 3, with or without intracellular inclusions2 rOculomotor-abducens synkinesis+ /Usher syndrome, type IEVC:Cerebral sclerosis similar to pelizaeus-merzbacher disease4#Anemia, autoimmune hemolytic/ rNephrotic syndrome, type 246 Dm"Focal cortical dysplasia of taylor 4 b Deafness, autosomal recessive 70$*Teratoma, pineal"Raine syndromeM H5Muscular dystrophy, limb-girdle, autosomal dominant 2 -HMucopolysaccharidosis IVAH I4Neuropathy, hereditary sensory and autonomic, type V.Aortic aneurysm, abdominal4| Eosinophil peroxidase deficiencyD b0Combined oxidative phosphorylation deficiency 137 a3#Brown-Vialetto-Van laere syndrome 21ADe Sanctis-Cacchione syndrome1|Hyaline fibromatosis syndromeV oTBCongenital disorder of glycosylation with defective fucosylation 2. ^Stickler syndrome, type IV+ NyRetinitis pigmentosa 32L9T8Ulna and fibula, absence of, with severe limb deficiency4 ] Deafness, autosomal recessive 61= j_)Crisponi/cold-Induced sweating syndrome 3< ](Cardiomyopathy, familial hypertrophic, 9 Y nEEctodermal dysplasia 14, hair/tooth type with or without hypohidrosisa vMNeurodevelopmental disorder with microcephaly, hypotonia, and absent language48 Schwartz-jampel syndrome, type 1# )Schizophrenia 34v Nephrolithiasis, calcium oxalate+ ]Meier-Gorlin syndrome 3` ePLMicrocephaly, progressive, with seizures and cerebral and cerebellar atrophyC/Homocystinuria-megaloblastic anemia, cbl E type, uSpermatogenic failure 668 o$Hypoalphalipoproteinemia, primary, 2' nImmunodeficiency 58? -i+Deafness, progressive, with stapes fixationA0D-Thyroid hormonogenesis, genetic defect in, 2A8 M$Thyroid hormone metabolism, abnormalD r0Combined oxidative phosphorylation deficiency 50;8'Mucus inspissation of respiratory tractD t0Combined oxidative phosphorylation deficiency 548 ^$Focal segmental glomerulosclerosis 64 ` Deafness, autosomal recessive 86@ E,Charcot-Marie-Tooth disease, axonal, type 2HN:Respiratory underresponsiveness to hypoxia and hypercapnia*0Retinoschisis of foveaMޖ9Muscular dystrophy, adult-onset, with leukoencephalopathy?Ѽ'Metaphyseal chondrodysplasia, Pena typeJ e6Leukoencephalopathy, progressive, with ovarian failure' sMahvash disease ,DMyopathy, congenitali pUNeurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, +Achondrogenesis, type IB# ^Lissencephaly 44 m Butyrylcholinesterase deficiencyJ!6Amyotrophic lateral sclerosis with polyglucosan bodies4 b2 Leptin deficiency or dysfunction+ kRetinitis pigmentosa 78M `b9Rigidity and multifocal seizure syndrome, lethal neonatall [ XMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4jVMullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly ZTqStargardt macular degeneration, absent or hypoplastic corpus callosum,mental retardation, and dysmorphic features1 *Fryns microphthalmia syndrome? e+Growth hormone deficiency, isolated partialH q4Spondylometaphyseal dysplasia with corneal dystrophy> u*Spastic paraplegia 87, autosomal recessiveT X*@Bone fragility with contractures, arterial rupture, and deafness>*Retinitis pigmentosa inversa with deafnessA j-Microcephaly 17, primary, autosomal recessiveD l0Combined oxidative phosphorylation deficiency 325]!Ventricular tachycardia, familial ' aNephronophthisis 148 tp$Immunodeficiency 89 and autoimmunity$(8Filippi syndrome+ S;Retinitis pigmentosa 37H q4Chronic granulomatous disease 5, autosomal recessive; ^?'Fanconi anemia, complementation group P) fCatel-Manzke syndromeG r,3Mitochondrial complex IV deficiency, nuclear type 8\ FoHMuscular dystrophy, congenital, merosin deficient or partially deficient7 m#Leukodystrophy, hypomyelinating, 15Y s>EIntellectual developmental disorder and hypogonadotropic hypogonadism' KKanzaki disease T@Dystonia, DOPA-responsive, with or without hyperphenylalaninemia3 IIchthyosis prematurity syndrome3 c~Ciliary dyskinesia, primary, 215!Glutathione synthetase deficiency=#)Bile acid synthesis defect, congenital, 2>!*Spastic paraplegia 5A, autosomal recessive.Otoonychoperoneal syndromeY DESpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 17 X%#Pontocerebellar hypoplasia, type 2BO j;Intellectual developmental disorder with cardiac arrhythmiaD d0Combined oxidative phosphorylation deficiency 183 cECongenital short bowel syndromey -eFacial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs5 o!Deafness, autosomal recessive 115= X6)Dystonia 17, torsion, autosomal recessiveA j-Epileptic encephalopathy, early infantile, 376"Polyhydramnios, chronic idiopathicR p>Cortical dysplasia, complex, with other brain malformations 10- [Spinocerebellar ataxia 30 B I.Aromatic L-amino acid decarboxylase deficiency7/"Thymic aplasia with fetal death25 t_!Deafness, autosomal recessive 119' sMartsolf syndrome 24 C? Deafness, autosomal recessive 22+ CSenior-Loken syndrome 3;'Myotonia congenita, autosomal recessive< i{(Muscular dystrophy, limb-girdle, type 2W4 I5 Deafness, autosomal recessive 35) eWebb-Dattani syndromeD h0Combined oxidative phosphorylation deficiency 27B@.Xeroderma pigmentosum, complementation group C' jHarel-Yoon syndrome=)Pituitary hormone deficiency, combined, 27 e{#Pontocerebellar hypoplasia, type 10mYProgressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive- P4Retinal cone dystrophy 3Bw pcNeurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, oeSpermatogenic failure 35<~(Lethal congenital contracture syndrome 1G E3Charcot-Marie-Tooth disease, demyelinating, type 1Ff+|RAplasia of extensor muscles of fingers, unilateral, with generalizedpolyneuropathyCt/Epidermolysis bullosa dystrophica neurotrophicaI l5Cerebellar atrophy, developmental delay, and seizuresB `.Congenital disorder of glycosylation, type IIl< aX(Facial paresis, hereditary congenital, 3#"XTangier disease?X+Cutis verticis gyrata and mental deficiencyCu/Epidermolysis bullosa, junctional, Herlitz typeIb15Deafness, sensorineural, Autosomal-Mitochondrial type)Sick sinus syndrome 2 VOBCongenital heart defects, hamartomas of tongue, and polysyndactyly9U%Craniosynostosis with fibular aplasiaTs@Adrenocortical unresponsiveness to acth with postreceptor defect5 r]!Mismatch repair cancer syndrome 4N-6Arthrogryposis multiplex congenita with whistling face'Glutaric acidemia I, PKoolen-De Vries syndrome7 E#Skin fragility-woolly hair syndrome? e+Diarrhea 7, protein-losing Enteropathy type> a*Spastic paraplegia 53, autosomal recessiveA g-Dyskeratosis congenita, autosomal recessive 6G o 3Mitochondrial complex I deficiency, nuclear type 32D e0Cholestasis, progressive familial intrahepatic 4+ ]Retinitis pigmentosa 20# ]Achromatopsia 4& iEven-Plus syndrome& lAl Kaissi syndromeA-Lipodystrophy, congenital generalized, type 2! s Anencephaly 2)Myasthenia gravis2 ; S'Isobutyryl-CoA dehydrogenase deficiencybNRadioulnar synostosis, unilateral, with developmental retardationand hypotoniaP 1k u*Attention deficit-hyperactivity disorder 8r i^Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to < e(Sacral agenesis with vertebral anomaliesC p;/Night blindness, congenital stationary, type 1ID hb0Short-Rib thoracic dysplasia 14 with polydactylyr JZDrug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included4 ty Hengel-Maroofian-Schols syndrome/ sAlzahrani-Kuwahara syndromeD L0Muscular dystrophy, congenital, merosin-positive+Dupuytren contracture 1 3 dLCiliary dyskinesia, primary, 26@@,Microcephaly, primary autosomal recessive, 1! ) ABCD syndromeT*@Teeth, noneruption of, with maxillary hypoplasia and genu valgum< ,(Muscular dystrophy, limb-girdle, type 2FO d;Intellectual developmental disorder, autosomal recessive 41, jSpermatogenic failure 167 `#Coenzyme Q10 deficiency, primary, 5\ sHNeurodevelopmental disorder with dysmorphic facies and variable seizures8 c$Osteosclerotic metaphyseal dysplasia: p&Diarrhea 11, malabsorptive, congenital( \Aromatase deficiency3JCitrulline transport defectG /Ceroid lipofuscinosis, neuronal, 6B (Kufs type) O ^;Multiple congenital anomalies-hypotonia-seizures syndrome 1E s1Facioscapulohumeral muscular dystrophy 4, digenic $ (kGonadal agenesisH;4Methylmalonic aciduria and homocystinuria, Cblc typeC ^/Combined oxidative phosphorylation deficiency 86"Leukodystrophy, hypomyelinating, 3VvBHyperlysinemia due to defect in lysine transport into mitochondriaL<8Cardiomyopathy associated with myopathy and sudden deathJ _v6Arthrogryposis, perthes disease, and upward gaze palsyH s[4Mitochondrial complex IV deficiency, nuclear type 22S X?Inflammatory bowel disease 25, early onset, autosomal recessive"z4GONADOBLASTOMAF u2Cholestasis, progressive familial intrahepatic, 12Ak-Dyskeratosis congenita, autosomal recessive 1D b#0Combined oxidative phosphorylation deficiency 15H >4Parkinson disease 6, autosomal recessive early-onset742#Beemer lethal malformation syndrome/ sCardiomyopathy, dilated, 2EV [;BImmunodeficiency due to purine nucleoside phosphorylase deficiency, pSpermatogenic failure 39@ ^e,Dyskeratosis congenita, autosomal dominant 2E u 1Epidermolysis bullosa, junctional 4, intermediatei HUVater-Like defects with pulmonary hypertension, laryngeal webs, and growth deficiency, iYou-Hoover-Fong syndrome' `AJoubert syndrome 16G l3Microcephaly, short stature, and limb abnormalities> E`*Spastic paraplegia 24, autosomal recessiveG3Acyl-Coa dehydrogenase, medium-chain, deficiency of2 mOrofaciodigital syndrome XVIII) I7Sick sinus syndrome 13ECervical vertebrae, agenesis of/ jOrofaciodigital syndrome XV&Netherton syndrome: )`"Muscular dystrophy, scapulohumeral=%Platelet prostacyclin receptor defectL S8Polyhydramnios, megalencephaly, and symptomatic epilepsySޗ?Thrombophilia due to deficiency of activated protein C cofactor 7 o#Pontocerebellar hypoplasia, type 122 rBile acid conjugation defect 1' tImmunodeficiency 96& 6Sickle cell anemia, _Meckel syndrome, type 10$Stromme syndrome6 ^"Epilepsy, progressive myoclonic, 6J Ch646XY gonadal dysgenesis with minifascicular neuropathyG n3Mitochondrial complex I deficiency, nuclear type 16QI9Ciliary discoordination due to random ciliary orientationR j>Arthrogryposis, distal, with impaired proprioception and touch3 iCiliary dyskinesia, primary, 33A d-Congenital disorder of glycosylation, type Ix, nSpermatogenic failure 34W oM?Basal ganglia calcification, idiopathic, 7, autosomal recessive ? ^+Immunoglobulin kappa light chain deficiency4. Right atrial isomerism (Ivemark)1$Pericardial effusion, chronicT k@Lung disease, immunodeficiency, and chromosome breakage syndromeM t9Leukoencephalopathy, hereditary diffuse, with spheroids 2 DU 0Craniometaphyseal dysplasia, autosomal recessive& IuJoubert syndrome 3= k\)Bile acid synthesis defect, congenital, 6 < CARNOSINEMIARh>Hypogonadism with low-grade mental deficiency and microcephaly*DUBIN-JOHNSON syndromeXDRetinitis pigmentosa, deafness, mental retardation, and hypogonadism-b^DERMATOLEUKODYSTROPHY' B\Fumarase deficiency$ cShaheen syndrome7 s&#Pontocerebellar hypoplasia, type 15@ ]+,Chromosome 17q11.2 deletion syndrome, 1.4-mb[ qFGMyopathy, congenital, with respiratory insufficiency and bone fracturesD e*Spastic paraplegia 62, autosomal recessiveV nBCongenital disorder of glycosylation with defective fucosylation 1*YCystic disease of lung4 N Deafness, autosomal recessive 51C:/Hypogonadotropic hypogonadism 7 without anosmia.(]Hemifacial spasm, familialRN>Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 G n3Mitochondrial complex I deficiency, nuclear type 17< jp(Muscular dystrophy, limb-girdle, type 2Y4 u] Neurocardiofaciodigital syndromeE s61Oculogastrointestinal neurodevelopmental syndrome< c(Muscular dystrophy, limb-girdle, type 2R$ҼCRYOHYDROCYTOSIS/Agnathia-Otocephaly complexF X2Amelogenesis imperfecta, hypomaturation type, iia26 El"Pontocerebellar hypoplasia type 1A2RSecretory component deficiency, _QWarburg micro syndrome 2. GDIAPHANOSPONDYLODYSOSTOSISU c<AMitochondrial complex V (atp synthase) deficiency, nuclear type 4> Mf*Epidermolysis bullosa, lethal acantholytic=%Immunoglobulin D level in plasma, low + gRetinitis pigmentosa 71/Glucocorticoid deficiency 1G o3Mitochondrial complex I deficiency, nuclear type 22;'Discrimination, two-point, reduction inR c>Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)<((Hallux varus and preaxial polysyndactyly2 O,Microphthalmia with coloboma 36|"Histiocytosis, familial lipochromeA s-Congenital disorder of glycosylation, type 2V,Achondrogenesis, type IA; m8'Fanconi anemia, complementation group W3 nPolydactyly, postaxial, type A8EX1Corneal opacification with other ocular anomaliesE d1Autoimmune lymphoproliferative syndrome, type IIIM q9Heterotaxy, visceral, 9, autosomal, with male infertility- NRetinal cone dystrophy 3AqqEncephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degenerationO r;Rajab interstitial lung disease with brain calcifications 22Alopecia universalis congenitaIun5Epidermolysis bullosa simplex with muscular dystrophy/$Hermansky-Pudlak syndrome 14 Oj Deafness, autosomal recessive 447Hn#Otospondylomegaepiphyseal dysplasia3 oHydatidiform mole, recurrent, 4, XGPrekallikrein deficiencyC Q+Neutral lipid storage disease with myopathy @ Y,Growth hormone deficiency, isolated, type IBG r3Mitochondrial complex II deficiency, nuclear type 37n#Myasthenia, limb-girdle, autoimmune 5 G !Gaucher disease, perinatal lethalH pf4Spastic tetraplegia and axial hypotonia, progressive+ pUsher syndrome, type 1MX3jDAural atresia, multiple congenital anomalies, and mental retardation, dzVan maldergem syndrome 2=)Friedreich ataxia and congenital glaucoma+ m5Retinitis pigmentosa 80- uLymphatic malformation 12+ gsSenior-Loken syndrome 8ufaMicrospherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma/Specific granule deficiency3 _*Mental retardation, autosomal recessive 19D r0Combined oxidative phosphorylation deficiency 493 aCiliary dyskinesia, primary, 179%Diarrhea 2, with microvillous atrophy5h!Agenesis of cerebral white matter9;%Hypoparathyroidism, familial isolated0 f!Alpha-Fetoprotein deficiency, _NWarburg micro syndrome 30 ]Cataract, posterior polar, 2; T'Lymphangiectasia, pulmonary, congenital5 `_!Pseudohypoaldosteronism, type IID> *SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL; k'Fanconi anemia, complementation group Vr q:^Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal3fPErythrocytosis, familial, 87 `#Coenzyme Q10 deficiency, primary, 2) Glutaric aciduria III: K&Spondylometaphyseal dysplasia, type A4* C'Hurler-Scheie syndrome,ZCystinosis, nephropathic<(Hyperbilirubinemia, conjugated, type IIIG3Myoglobinuria, acute recurrent, autosomal recessiveL P8Arrhythmogenic right ventricular dysplasia, familial, 11, uSpermatogenic failure 758n$Mesomelic limb shortening and bowing6ACerebral angiopathy, dysphorick 1gWShort stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalitiesA p-Epileptic encephalopathy, early infantile, 83WCNephrosis with deafness and urinary tract and digital malformations!sf ENTEROCOLITISI s5Visceral neuropathy, familial, 2, autosomal recessive` qiLDiabetes mellitus, permanent neonatal 3, with or without neurologic features.uKohlschutter-Tonz syndrome'YCysteine peptiduria>hD&Disseminated sclerosis with narcolepsyG mR3Glycosylphosphatidylinositol biosynthesis defect 15b ]bNHemorrhagic destruction of the brain, subependymal calcification,and cataracts35Bifid nose, autosomal recessiveX iDImmunodeficiency-Centromeric instability-facial anomalies syndrome 3+ ZGlioma susceptibility 3'Neu-Laxova syndrome4 O Deafness, autosomal recessive 664 3 Deafness, autosomal recessive 135!Methylmalonic aciduria, Cblb typep#\Spinocerebellar degeneration with macular corneal dystrophy, congenitalcataracts, and myopia_ KKSpondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-sprangertype/TMICROCEPHALY-CARDIOMYOPATHYA-Globulin anomaly involving beta (2a)-globulin H dV4Alacrima, achalasia, and mental retardation syndrome6H"Grouped pigmentation of the maculaD I0Spondylocostal dysostosis 2, autosomal recessiveEW1ACTH-independent macronodular adrenal hyperplasia # _Sclerosteosis 2\ \;HAmyotrophic lateral sclerosis 12 with or without frontotemporal dementia= gV)Bile acid synthesis defect, congenital, 5` cqLHypomyelination with brainstem and spinal cord involvement and legspasticity4 [ Deafness, autosomal recessive 79F@.Xeroderma pigmentosum, complementation group F8v$Panencephalitis, subacute sclerosing+ gIPeeling skin syndrome 39*%Gillessen-Kaesbach-Nishimura syndrome0 ZPremature ovarian failure 10> YS*Polymicrogyria, bilateral temporooccipital4 \ Deafness, autosomal recessive 857-#Fetal akinesia deformation sequence3 nPolydactyly, postaxial, type A9Q r=Immunodeficiency 78 with autoimmunity and developmental delay6͘"Megalencephaly with dysmyelinationL i8Spinal muscular atrophy with congenital bone fractures 2:&Alport syndrome 2, autosomal recessive(HLacrimal duct defect+ qJRetinitis pigmentosa 88, `Preeclampsia/eclampsia 5 H r-4Mitochondrial complex IV deficiency, nuclear type 10)€Letterer-Siwe disease] u9INeurodevelopmental disorder with neuromuscular and skeletal abnormalities&Haim-Munk syndrome, rSpermatogenic failure 52#BMulibrey nanism6 i8"Woolly hair, autosomal recessive 3> .*Hyperinsulinemic hypoglycemia, familial, 2> dC*Spastic paraplegia 79, autosomal recessive<(Aldosteronism, glucocorticoid-remediable & oLong QT syndrome 8 $0Gilbert syndrome</Y Thymic-Renal-Anal-Lung dysplasia2+3Bardet-Biedl syndrome 1aVMGrowth hormone insensitivity with immune dysregulation 1, autosomal recessive&HYPOASCORBEMIAo q[Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures. _4Nephrotic syndrome, type 6A d-Congenital disorder of glycosylation, type IwA u-Dworschak-Punetha neurodevelopmental syndromeC 5/Hemophagocytic lymphohistiocytosis, familial, 47#Spinal muscular atrophy, X-linked 2G3Ankyloblepharon-Ectodermal defects-cleft lip/palateG u3Diaphragmatic hernia 4, with cardiovascular defectsO f+;Intellectual developmental disorder, autosomal recessive 45*?@Cephalin lipidosis/Spondylocostal dysostosis 5A ='-Cholestasis, benign recurrent intrahepatic, 2VvBEpiphyseal dysplasia, multiple, with early-onset diabetes mellitus@1 ,Thyroid hormonogenesis, genetic defect in, 3T 1@Bartter syndrome, type 4A, neonatal, with sensorineural deafness8 t$Immunodeficiency 86, mycobacteriosis% BSeckel syndrome 2n bZMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10' lqImmunodeficiency 532)nGm2-Gangliosidosis, ab variant=!,)Amyotrophic lateral sclerosis 2, juvenile7ƨ#Spatial visualization, aptitude for?+Deoxyribose-5-Phosphate aldolase deficiencyJ em6Short stature with microcephaly and distinctive facies> _*Mental retardation, autosomal recessive 33: ;]&Myoclonic epilepsy, familial infantile'Friedreich ataxia 1, eSpermatogenic failure 14G s3Short-rib thoracic dysplasia 21 without polydactylyB g.Multiple mitochondrial dysfunctions syndrome 4G t3Immunodeficiency 93 and hypertrophic cardiomyopathy< [9(Cutis laxa, autosomal recessive, type ICA W-Ichthyosis, congenital, autosomal recessive 6@/,Thyroid hormonogenesis, genetic defect in, 1H r44Mitochondrial complex IV deficiency, nuclear type 16o OS[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 &ʾMannosidosis, betaFj2Mitochondrial complex I deficiency, nuclear type 14 G Nablus mask-like facial syndrome9 nZ%Epilepsy, familial adult myoclonic, 6 A c-Microcephaly 11, primary, autosomal recessive1Pfeiffer-Palm-Teller syndromef.RPineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities3 liCiliary dyskinesia, primary, 37O f;Intellectual developmental disorder, autosomal recessive 44, nSpermatogenic failure 334 Cl Deafness, autosomal recessive 319%Mental retardation, buenos Aires type; \'Fanconi anemia, complementation group O+ mRetinitis pigmentosa 81L t!8Deafness, autosomal recessive 118, with cochlear aplasia0vGlycogen storage disease ixb0Glycogen storage disease III5 a!Peroxisome biogenesis disorder 4B:&Alopecia-Mental retardation syndrome 13Immunoerythromyeloid hypoplasia4 P Cold-Induced sweating syndrome 2r r^Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse faciesn [!ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5W uCDevelopmental and epileptic encephalopathy 105 with hypopituitarism4p Osteogenesis imperfecta, type IX9 k%Preimplantation embryonic lethality 2/ ,bMicrophthalmia, syndromic 94 N Deafness, autosomal recessive 47n [ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2Qb=Persistent hyperplastic primary vitreous, autosomal recessiveK R7Spinal muscular atrophy, distal, autosomal recessive, 4F n2Mitochondrial complex I deficiency, nuclear type 4Tp@Humeroradial synostosishumeroradial/multiple synostosis syndromeF2Persistent mullerian duct syndrome, types I and II2HYPERLEUCINE-ISOLEUCINEMIAdLAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis2*'Sugarman brachydactyly&NHolzgreve syndromeHט4Microtia with meatal atresia and conductive deafness4 6H Deafness, autosomal recessive 16;F#3-methylglutaconic aciduria, type I + j?Retinitis pigmentosa 75I5Prolactin deficiency with obesity and enlarged testesFRd2Corneal endothelial dystrophy, autosomal recessiveK07Phosphoenolpyruvate carboxykinase deficiency, cytosolicGuZ3Epidermolysis bullosa, junctional, Non-Herlitz type7;#Pontocerebellar hypoplasia, type 2A&THeimler syndrome 10 9yLeber congenital amaurosis 59 h%Basel-Vanagaite-Smirin-Yosef syndrome- FHypercholanemia, familial0 _Cranioectodermal dysplasia 4 r}Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosism ["YMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6S u?Peripheral motor neuropathy, childhood-onset, biotin-responsiveLz8Hypophosphatemic rickets with hypercalciuria, hereditary HYPERLEXIA0 sAicardi-Goutieres syndrome 93Hydatidiform mole, recurrent, 1' e3Nemaline myopathy 9r u^Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defectsC f/Peroxisomal fatty acyl-CoA reductase 1 disorder6 (O"Ceroid lipofuscinosis, neuronal, 8c sOMuscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome' b:Joubert syndrome 20D m0Combined oxidative phosphorylation deficiency 36H r84Mitochondrial complex IV deficiency, nuclear type 20s G_Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bonesC 1/Muscular dystrophy, congenital, Megaconial type9 s%Diarrhea 12, with microvillus atrophyVBImmunodeficiency-Centromeric instability-facial anomalies syndrome6 O"Pontocerebellar hypoplasia, type 5/ -Amelia, autosomal recessivef aSR3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndromeC²/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiencyY _EMyopathy, areflexia, respiratory distress, and dysphagia, early-onset= `)Infantile cerebellar-retinal degenerationL @t4Parkinson disease 7, autosomal recessive early-onset E uI1Cholestasis, progressive familial intrahepatic, 9I `5Neuropathy, hereditary sensory and autonomic, type VIT n@Inflammatory bowel disease, immunodeficiency, and encephalopathyV UB46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsp h\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 22 Split-Hand/foot malformation 3J sv6Leber hereditary optic neuropathy, autosomal recessive/ gcLichtenstein-Knorr syndromes d_Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity> K*Spastic paraplegia 26, autosomal recessive` ?HLaryngeal abductor paralysis with cerebellar ataxia and motor neuropathy ,EChediak-Higashi syndrome6"Ceroid lipofuscinosis, neuronal, 3; S*Spastic paraplegia 18, autosomal recessiveA J-Congenital disorder of glycosylation, type Il:@&Gastritis, familial giant hypertrophic= k)Cutis laxa, autosomal recessive, type IIC4 ^ Deafness, autosomal recessive 89*dDonnai-Barrow syndrome?\+Metaphyseal dysplasia without hypotrichosis+Heart block, congenital/"Gluteal muscles, absence of.(BSyndesmodysplasic dwarfismH - 4Lethal short-limb skeletal dysplasia, al Gazali typeF L-2Epiphyseal dysplasia, multiple, with miniepiphysesP t` i#*Mental retardation, autosomal recessive 51, f:Bardet-Biedl syndrome 17+ puRetinitis pigmentosa 86/ T?Cataract 33, multiple types7 i#Leukodystrophy, hypomyelinating, 13_ gGKNeurologic, endocrine, and pancreatic disease, multisystem, infantile-onsetIp5Ehlers-Danlos syndrome, type VII, autosomal recessiveS b?Facial dysmorphism, immunodeficiency, livedo, and short stature^ mJNeurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy+ WMeckel syndrome, type 6+ bNUsher syndrome, type IK( b@Carpenter syndrome 2D k 0Combined oxidative phosphorylation deficiency 31@ I,Microcephaly 5, primary, autosomal recessiveSL?Periodic fever, immunodeficiency, and thrombocytopenia syndromeF u(2Epidermolysis bullosa, junctional 5A, intermediateB s}.Spinocerebellar ataxia, autosomal recessive 29C/Ciliary dyskinesia with defective radial spokes" _=3-M syndrome 38 a+$Immunodeficiency, common variable, 7; Y'Cerebral creatine deficiency syndrome 2/Muscular hypertonia, lethal+ cAdams-Oliver syndrome 4B Sn.Congenital disorder of glycosylation, type IIhM V29Congenital arthrogryposis with anterior horn cell disease#Keutel syndromeV l<BIntellectual developmental disorder with neuropsychiatric features@~$,Fibular hypoplasia and complex brachydactylyI5Thrombophilia 13, X-linked, due to factor VIII defect - _Stickler syndrome, type V+ ]Meier-Gorlin syndrome 5R J :Sudden infant death with dysgenesis of the testes syndrome:%x&Iron-Refractory iron deficiency anemia7 nQ#Pontocerebellar hypoplasia, type 1D5 ]/!Congenital prothrombin deficiencyB q0.Spinocerebellar ataxia, autosomal recessive 28:&Retinitis pigmentosa, late-adult onset: A&GLYCINE N-METHYLTRANSFERASE DEFICIENCY& M/Joubert syndrome 4B t.Usmani-Riazuddin syndrome, autosomal recessive# VgRiddle syndrome0Epidermolytic hyperkeratosis, Myopia, infantile severe+ iPaget disease of bone 6 VpBEctodermal dysplasia, ectrodactyly, and macular dystrophy syndrome> ]p*Spastic paraplegia 51, autosomal recessive5 ^!Cortical malformations, occipital$=~Sengers syndrome2 qFanconi renotubular syndrome 50qAicardi-Goutieres syndrome 1_)GMitochondrial myopathy with A defect in mitochondrial-protein transport> b*Spastic paraplegia 43, autosomal recessiveL hD8Emery-Dreifuss muscular dystrophy 3, autosomal recessive-Scalp-Ear-Nipple syndrome2C/METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCYF2Membranoproliferative glomerulonephritis, X-linkedd GiPEpilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp+ ]~Retinitis pigmentosa 47# T0Mungan syndrome7#Peroneus tertius muscle, absence ofO a;Monocyte and dendritic cell deficiency, autosomal recessiveGJ3Prader-Willi habitus, osteopenia, and camptodactylyE t1Cholestasis, progressive familial intrahepatic, 8D g0Combined oxidative phosphorylation deficiency 25N f:Microcephaly and chorioretinopathy, autosomal recessive, 2) -zPatent ductus venosusV *BDeafness, autosomal recessive 4, with enlarged vestibular aqueduct/ F"Acrocapitofemoral dysplasia= kx)Nemaline myopathy 11, autosomal recessive- okGalloway-Mowat syndrome 6u ]aInfections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformationsK v7Ciliary dyskinesia, primary, 48, without situs inversus/Senile plaque formation/ oOculoskeletodental syndrome-Schneckenbecken dysplasiab ]NMyopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-relatedH \4Arthrogryposis, renal dysfunction, and cholestasis 23 b>Focal facial dermal dysplasia 40,Arterial tortuosity syndromem s\YOnychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome5 X#!Sarcoidosis, susceptibility to, 2 "[ CYSTINURIAM P9Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa< T)(Lethal congenital contracture syndrome 3Q (=Spondyloepiphyseal dysplasia tarda with characteristic facies, -.Van maldergem syndrome 1=)Mucopolysaccharidoses, unclassified types4 /x Otofacioosseous-Gonadal syndromeA#-Spinocerebellar ataxia, autosomal recessive 37 r?#Leukodystrophy, hypomyelinating, 20& eOrofacial cleft 14A v-Microcephaly 29, primary, autosomal recessive?T+Klippel-Feil syndrome 1, autosomal dominantA j<-Epileptic encephalopathy, early infantile, 38- mGalloway-Mowat syndrome 4;'Ullrich congenital muscular dystrophy 1W lCNeurodevelopmental disorder with microcephaly, ataxia, and seizuresB <-*Spastic paraplegia 14, autosomal recessive % ,cGurrieri syndromeU uGANeurodegeneration, childhood-onset, with progressive microcephalyE h'1Epidermolysis bullosa simplex with nail dystrophy3wErythroderma, lethal congenital* (Macrocytosis, familialb iNHypotonia, infantile, with psychomotor retardation and characteristic facies 32Hypergonadotropic hypogonadism. n Oocyte maturation defect 5; qj'Diabetes mellitus, permanent neonatal 47 nA#Parkinsonism-Dystonia, infantile, 24 n Deafness, autosomal recessive 57W _PCRetinal arterial macroaneurysm with supravalvular pulmonic stenosisK t.7Muscular dystrophy, limb-girdle, autosomal recessive 274 O Deafness, autosomal recessive 59J6Gonadal dysgenesis, xy type, with associated anomaliesCX/Minicore myopathy with external ophthalmoplegia7 s(#Pontocerebellar hypoplasia, type 1F; q;'Mitochondrial DNA depletion syndrome 18*[Hypouricemia, renal, 1'vLowry-Wood syndromeI i5Chorea, childhood-onset, with psychomotor retardation>6*Dyggve-Melchior-Clausen syndrome, X-linkedF82Hydrocephalus, nonsyndromic, autosomal recessive 1-Pituitary dwarfism IV- omGalloway-Mowat syndrome 8`'LAniridia, partial, with unilateral renal agenesis and psychomotorretardation+ f-Bardet-Biedl syndrome 2! A Lig4 syndrome'(Rapadilino syndrome$ pSiddiqi syndromei%USpondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fracturesJj6Hemolytic anemia with thermal sensitivity of red cells' Z46XY sex reversal 59 )%Aminopterin syndrome sine aminopterinG n3Mitochondrial complex I deficiency, nuclear type 11T _7@Nephrotic syndrome, type 5, with or without ocular abnormalitiesA s-Microcephaly 28, primary, autosomal recessive* ]cRetinitis pigmentosa 4/ ZAntithrombin III deficiency4 W Diabetes mellitus, ketosis-proneG3Hypoparathyroidism-Retardation-Dysmorphism syndromeI85Indifference to pain, congenital, autosomal recessiver h&^Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities/lAcetophenetidin sensitivityA `k-Congenital disorder of glycosylation, type IRD r0Combined oxidative phosphorylation deficiency 48<(Renal, genital, and middle ear anomalies.kDysautonomia-Like disorder# hEAchromatopsia 7(TOvarian dysgenesis 1=)Hyperphosphatasia with mental retardationm ezYNeurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities/ ^Hermansky-Pudlak syndrome 59ȸ%Leukocyte adhesion deficiency, type I6 g&"Epilepsy, progressive myoclonic, 8>o*Hypothyroidism, congenital, nongoitrous, 5< a(Sinoatrial node dysfunction and deafness+ kXRetinitis pigmentosa 77P j3 d\*Mental retardation, autosomal recessive 38^'FAnhidrosis, familial generalized, with abnormal or absent sweat glands0 [+GABA-transaminase deficiency?6+Pituitary dwarfism with large sella turcica, mSpermatogenic failure 27. QNephrotic syndrome, type 37 ['#Nephronophthisis-Like nephropathy 1; C'Meningioma, familial, susceptibility to 83$Hyperkeratosis lenticularis perstans cOMacroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance GCraniofacial abnormalities, cataracts, congenital heart disease, sacralneural tube defects, and growth and developmental retardation?y+Transient bullous dermolysis of the newborn' *3HYPERTRYPTOPHANEMIA< h7(Lethal congenital contracture syndrome 9, lSpermatogenic failure 21< c(Lethal congenital contracture syndrome 51Acrorenal-Mandibular syndromeE`1Deafness, congenital, with vitiligo and achalasia/ vNephrotic syndrome, type 26B uV.Spinocerebellar ataxia, autosomal recessive 32*Retinitis pigmentosa 1D o0Combined oxidative phosphorylation deficiency 39<ޠ(Muscular dystrophy, limb-girdle, type 2Ag gOS3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia3 ]Ciliary dyskinesia, primary, 143VCrigler-Najjar syndrome, type IIƚ1Lymphoblastic transformation, intrinsic defect in+ jgMeier-Gorlin syndrome 7' lJoubert syndrome 30(vImmunodeficiency 32B9 -&%Charcot-Marie-Tooth disease, type 4B1$Donohue syndrome< _E(Neuropathy, hereditary sensory, type IIC0 l[Orofaciodigital syndrome XVIO o>;Intellectual developmental disorder, autosomal recessive 68/ m^Alkuraya-Kucinskas syndrome#TOrotic aciduria% /Trimethylaminuria1 fRetinal dystrophy and obesity8 d $Aortic aneurysm, familial thoracic 8 > N*Hyperinsulinemic hypoglycemia, familial, 4A q-Epileptic encephalopathy, early infantile, 86? <+Cerebral palsy, ataxic, autosomal recessive8 hz$Cerebrooculofacioskeletal syndrome 3# nHyperekplexia 47 d>#Interstitial lung and liver diseaseI _5Platelet-Activating factor acetylhydrolase deficiency%0Lambotte syndrome+ /Usher syndrome, type IF9%Robinow syndrome, autosomal recessivet o`Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression+ ?tRetinitis pigmentosa 28=v)Transient erythroblastopenia of childhoode lQPlatelet abnormalities with eosinophilia and immune-mediated inflammatory diseaseV sBDevelopmental delay, impaired speech, and behavioral abnormalities/ qProteinuria, chronic benign8 \w$Immunodeficiency, common variable, 5.~`Flaujeac factor deficiency3 dCiliary dyskinesia, primary, 22X ]$DMicrocephaly, postnatal progressive, with seizures and brain atrophy'HChondrocalcinosis 2 (88Blue diaper syndromeG3Leg, absence deformity of, with congenital cataractR I>Ciliary dyskinesia, primary, 3, with or without situs inversus3Mucopolysaccharidosis type IIIA, kBardet-Biedl syndrome 218 fB$Focal segmental glomerulosclerosis 7 >*Vestibulocochlear dysfunction, progressivep jm\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3Rw>Eyebrows, duplication of, with stretchable skin and syndactyly1 .Exudative vitreoretinopathy 4.dLanger mesomelic dysplasia#WxFraser syndrome% rHKilquist syndromeHe4Pyruvate dehydrogenase e3-binding protein deficiency+ hrRetinitis pigmentosa 74[GLimb defects, distal transverse, with mental retardation and spasticity2 `Febrile seizures, familial, 11k swWNeurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalitiesI _5Hypermethioninemia due to adenosine kinase deficiencyH ]*Cataract, autosomal recessive congenital 4B i.Spinocerebellar ataxia, autosomal recessive 22? 2+Histiocytosis-lymphadenopathy plus syndromeS `e?Psychomotor retardation, epilepsy, and craniofacial dysmorphismG r3Mitochondrial complex I deficiency, nuclear type 36F=2Palmoplantar keratoderma and congenital alopecia 2U (pAPachygyria with mental retardation, seizures, and arachnoid cystsIV5Craniosynostosis-Mental retardation-clefting syndromeWCAfibrinogenemia, congenitalhypofibrinogenemia, congenital, included7Amyotrophic lateral sclerosis 1 / lgNephrotic syndrome, type 14& BNephronophthisis 4S 2?Amyloidosis of gingiva and conjunctiva, with mental retardationU s;ANeurodevelopmental disorder with seizures and gingival overgrowth3Laryngoonychocutaneous syndrome1 uWaardenburg syndrome, type 2FG s3Retinal dystrophy and microvillus inclusion disease; R'Fanconi anemia, complementation group N2Peroneal nerve, accessory deep. tStuve-Wiedemann syndrome 23Achalasia-Microcephaly syndromei [$UMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2O7Polycystic liver disease 1 with or without kidney cysts gSGranulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II*Megaloblastic anemia 1e tQNeurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis7 (4#Parkinson disease, juvenile, type 2O;Hyper-Ige recurrent infection syndrome, autosomal recessiveU n#ARhizomelic skeletal dysplasia with or without Pelger-Huet anomalyU i;ALeukodystrophy and acquired microcephaly with or without dystoniad EPCharcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessiveBp.Spinal and bulbar muscular atrophy, X-linked 1 4 Y Deafness, autosomal recessive 71A e-Epileptic encephalopathy, early infantile, 23J6Muscular dystrophy, congenital, with rapid progression%74Bangstad syndrome1'HMultiple sulfatase deficiencyd aPEncephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6p t\Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism? m+Body mass index quantitative trait locus 19"Arima syndrome= W)Cardiomyopathy, familial hypertrophic, 11 0 npPremature ovarian failure 158 \u$Immunodeficiency, common variable, 3F92BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISMD ]60Spondylocostal dysostosis 4, autosomal recessiveR X\>Ciliary dyskinesia, primary, 9, with or without situs inversusX pIDNeurodevelopmental disorder with ataxia, hypotonia, and microcephalyO k;Intellectual developmental disorder, autosomal recessive 60B u&.Developmental and epileptic encephalopathy 101$ sDEGCAGS syndrome+ _$Retinitis pigmentosa 61$ (Escobar syndromeC/Myeloproliferative disease, autosomal recessive, 1Hemochromatosis, type 2AD qc0Combined oxidative phosphorylation deficiency 43F W2Ehlers-Danlos syndrome, spondylodysplastic type, 3D qW0Combined oxidative phosphorylation deficiency 42e jQGrowth retardation, impaired intellectual development, hypotonia, and hepatopathy9!Larsen-like syndrome, Lethal type@ 9x,Ectodermal dysplasia/skin fragility syndrome%/6Thymoma, familial,8Galactokinase deficiencyC fF/Hennekam lymphangiectasia-lymphedema syndrome 2>3*Hypothyroidism, congenital, nongoitrous, 19`%Infantile sialic acid storage disease> S#*Mental retardation, autosomal recessive, 4/>Cataract 46, juvenile-onset, sSpermatogenic failure 56H&0Sucrosuria, hiatus hernia and mental retardationY q{ESeizures, early-onset, with neurodegeneration and brain calcificationB&.Phosphoglycerate mutase, muscle, deficiency of8[$Leigh syndrome, french Canadian typen +ZEpidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive& q+Juvenile arthritisE s1Cholestasis, progressive familial intrahepatic, 6" UySalih myopathy; .e'Arthrogryposis and ectodermal dysplasia6 g"Lissencephaly 6, with microcephaly4 c Albinism, oculocutaneous, type V#(Lissencephaly 2Z t8FCerebellar ataxia, brain abnormalities, and cardiac conduction defectsuaAutoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasiaB jz.Congenital disorder of glycosylation, type IAA:3("Tinea imbricata, susceptibility to$nParagangliomas 4 m - YMicrocephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs#Phenylketonuria+ dRetinitis pigmentosa 67n`ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3G ZW3Leukoencephalopathy, cystic, without megalencephaly5 7!Epidermolysis bullosa pruriginosaI q5Mitochondrial complex III deficiency, nuclear type 10.Blount disease, adolescent+ ()Retinitis pigmentosa 12(3dTRACHEOBRONCHOMEGALY/ lNephrotic syndrome, type 15Bo$.Cleft lip/palate-ectodermal dysplasia syndrome+ (Fatal familial insomnia A X-Lipodystrophy, congenital generalized, type 3I HT5Charcot-Marie-Tooth disease, recessive intermediate Aq L!]Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratodermaJ r6Blistering, acantholytic, of oral and laryngeal mucosaO u;Neurodevelopmental disorder with language delay and seizureR [%>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 tu Dystonia 32* ^Trypsinogen deficiencyP WgMuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2/ rNephrotic syndrome, type 22U )ACleft palate, cardiac defect, genital anomalies, and ectrodactylyd ePVasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome7 kW#Mucopolysaccharidosis-Plus syndromeA K-Spinocerebellar ataxia, autosomal recessive 7RR>Growth retardation, small and puffy hands and feet, and eczemaA :i-Ichthyosis, congenital, autosomal recessive 51ȎLysine malabsorption syndrome8 ; Cortisone reductase deficiency 1 M9Hemolytic uremic syndrome, atypical, susceptibility to, 1@ [,Plasminogen activator inhibitor-1 deficiency' aJoubert syndrome 18( WTrehalase deficiencyC J/Hemophagocytic lymphohistiocytosis, familial, 3A S-Deafness, sensorineural, and male infertilityAw-Focal facial dermal dysplasia 3, Setleis type_ `KMicrocephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome; m'Fanconi anemia, complementation group SB lc.Ichthyosis, congenital, autosomal recessive 14< (Spastic ataxia, Charlevoix-Saguenay typej v"VNeurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, \Warsaw breakage syndromeD m0Combined oxidative phosphorylation deficiency 35_ oKNeurodevelopmental disorder with impaired speech and hyperkinetic movements3j8Dyggve-Melchior-Clausen disease:3&Squamous cell carcinoma, head and neckQ K!=Nephropathy with pretibial epidermolysis bullosa and deafness; ='Myopathy, proximal, and ophthalmoplegiaK p7Immunodeficiency 65, susceptibility to viral infections.Thumbs, congenital clasped/ OSenior-Loken syndrome 6e mQNeurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities"-V3-M syndrome 1' snImmunodeficiency 811Niemann-pick disease, type C1D j0Combined oxidative phosphorylation deficiency 30b 1NSkeletal dysplasia and progressive central nervous system degeneration, lethal* tLoeys-Dietz syndrome 6 ! Peho syndromeH