HPOG-0Abnormality of brain morphology!Mode of inheritance3%Abnormality of metabolism/homeostasis12#Abnormality of the endocrine system#)Mendelian inheritance3cn%Abnormal CSF metabolite concentration,1gAbnormal inflammatory response|5Clinical course2Clinical modifier. Abnormality of the immune systemAll*+ Abnormal cellular physiology01_"Abnormal nervous system morphology>0Morphological central nervous system abnormality+Abnormal forebrain morphology/!Abnormality of the nervous system$vPhenotypic abnormality-Autosomal recessive inheritance5*'Abnormality of immune system physiology01^"Abnormal nervous system physiology-1hDecreased inflammatory response./ Abnormal hypothalamus physiology-)Abnormality of the diencephalon Adult onset<`.Abnormality of the hypothalamus-pituitary axisZOnset<0v2v)cn1g*|522 v+ 1_1_0vv)* 1^1h1g/`)1^) Z`2Z|5RuSTAT2 Z*+ 01^1_1gcn|5)M GNB22` Z*01^1_1g|5)=CDK5 Z01^1_|5)6=NAGLU  Z*1^|5)LIM2)JiMGME12 *+ 01^1_|5))RARA *1^1g4,CCDC17401^1_)=)CTCF  Z*01^1_|5)7ًFRMD4A 01^1_)A ESS2 2 *+ 01^1_):ePOC1A 201^1_)JSCCND12 Z*+ 01^1_|5)N AGATA32 Z*+ 01^1_1g|5).UUROC1 *1^)M$NDE12` Z)*01^1_|5)OXIST|5!BDP1Z|5)= FZD4  Z01^1_|5)JCREB3L3)1CCR1 *1^1_1g%)MTX2Z|5)>, USP18 Z01^1_|5)A5+FKRP Z)01^1_|5),oF1001_)/ZSETD1B01^1_)! ATP6V1B1)4EDARADD Z*1g|5)4vITK  Z*+ 1g|5)5'OPTN  Z1^1_|5)A FLNB 2`Z01^1_|5)7 5DZIP1L  *1^1g|5))CD70 *+ )& IFRD101^1_2 ~CDC4501^1_) CEL2)8>ARX 2Z01^1_|5):REEP1  Z*1^1_|5)1CCNF Z1^1_|5) GJA3)AUTSHR 2`Z01^1_|5)%M1AP Z|5):USH2A 201^1_)3ZNF5132Z1^|5)6+PLPBP 01^1_)EATN1  Z*01^1_1g|5)8WNT10B)#!lCDC14AZ|5)J gSP1102 *+ 01^1_1g)E SGCH1 2Z01^1_cn|5)P2RY111^8MN1  Z01^1_|5)B GALNS  Z*1^1_1g|5)PLAT)*5ITSN101^1_?XZSWIM6 2`Z01^1_|5)0PPP2R1A01^1_)$7jANKRD55 *1g;ySLC4A1  Z*1^1g|5)MIP)BRPL10 2 Z*01^1_|5)8FGB  Z01_|5)/YZNF29201^1_)!#{BPY2 Z|5)<!0PPFIBP1 Z01^1_|5)1LHX1201^1_BMYD88  *+ 01^1_1g)KsNDUFV12Z+ 01^1_cn|5)6EPS8L3)# SFTPA1 Z|5)Y4POLG2 Z)*+ 01^1_1g|5);ATSGA10)34HEPHL1 *1^1g)AAAAS 2`Z01^1_|5)BDNAI2  Z*01^1_1g|5)FCPSF3  Z*01^1_|5)&[TRIM21^1_)BuPOMT2 Z)01^1_|5)2PRKCZ2 01^1_)mRTN21^1_|5)-kPIGM Z1^|5)..MYOD101^1_)9!TRHR 2`01^1_)7(ZBTB18 Z01^1_|5).PRKCH Z01_|52FOXI12Z1^|5)1SOX62 Z*1^|5)69STAC3 01^1_)>j/VPS4A 2 *01^1_|5)6yTULP3  Z1^|5)>TAF13 2Z01^1_|5)"GHMCN1 Z|5)*eEPKDCC1^1_)>H]MAGT1  Z*+ 1^1g|5)TMIE)E[SLC39A14  Z01^1_|5)?DIS3L2 2 01^1_)1MST12 *+ 1^1gCIL11RA  Z*01^1_1g|5)5+CHP1 Z01^1_|5):#P4HA2 2 *1^1_1g)A IGHM  Z*+ 1_1g|5)<TUBB1Z|5)6"!RIPK1  Z*+ 1g|5)4/CYP11A12`01_=PLAU  Z01^1_|5)CATP1A2  Z01^1_|5)APCCB  *01^1_1g)MPRF1 Z*+ 01^1_1g|5)++SLC7A9 *)*ۋLMOD31^1_)75SPTAN1 Z01^1_|5)9SCP2 2)01^1_)/7TMEM53Z1^1_|5)8^SCD5)'f PRPF3121^)GSPRTN)Q GJA12 Z*+ 01^1_1g|5)FvEDNRB 2 Z*01^1_|5)/ZNF711Z1^1_|5)BuPSAT1 Z01^1_cn|5)84FTO Z01^1_|5)&!DITGA8Z|5)6ZXSTOX1 2 Z*1^|5'COL9A31^)#ZNBEAL2 |5)CYP2C9)% IHMBS1^1_)" KRT17 *1g)HNDUFAF6 Z+ 01^1_cn|5)HlNDUFB10 2+ 01^1_cn|5)9GITCH 2 *+ 1^1g)JSCN9A Z*01^1_1g|5)GSCARB2 2 *+ 01^1_|5)$+SLC6A14 *+ 4~ IRF2BP2 *+ 1^1g)7TRIM36 Z01_|5)66TRPC3  Z01^1_|5) ROBO4)"YtCARD8 *1g)BLOC1S3)AXMEG3 2 *01^1_1g|51gAQP22Z1^|5)"RDRAM21^)CRYBA4)4u;SH3KBP1 *+ 1^1g)_ PLCZ1)6nITGB6 201^1_)BATASP1  Z*01^1_|5)1zPPOX2 Z1^|5)DiLRIT3)"LCASQ11^):SALL1 2Z01^1_|5).PRKD101^1_)DxNDUFA11 2+ 01^1_cn)'JSLC9A71^1_)4SET Z01^1_|5)-[JARHGEF1821^)6lYWHAG Z01^1_|5).M4ATCAY01^1_)4NREL  Z*+ 1g|5);ZUNC45A  *01^1_)=TPM3  Z*1^1_1g|5)MAPKAPK3),TACSTD2Z1^|5)DI)POLR3GL 2` *01^1_):#MAP1B  Z01^1_|5)Ca1KNSTRN  *+ 01^1_1g)EvATL1  Z*01^1_1g|5))RIC1 *1^)GREM2)>PDE6D Z)01^1_|5))'%HCN4 Z1^|5)FHL2 >qPTH1R 2 01^1_|5)(CA8Z1^|5)ErMEFV  Z*1^1_1g|5)9ՈTMEM106B Z01^1_|5)PTPN31EMP2 *1^1g)6jvFREM1 201^1_)"RPL3LZ|5):TGFB2  *01^1_1g)?ޏFAM20C Z01^1_|5)%?ADAMTS101^)* ,FOLR11^1_)#ANGPT2Z|5).) NOP5601^1_|5):KMT2C 2 *01^1_):bBRAT1 Z01^1_|5))NEK221^),AGKZ1^|5)BeMTRFR )01^1_cn|5)"4A2ML1 *1g)>;ASXL3 2 *01^1_|5)2oRP1L12Z1^|5)9NIRF4 2 *01^1_1g%RHOH *1g)<MPZ  Z1^1_|5) umSLC40A12)/9LZTFL12Z1^|5))eNEXN Z|5)5PAX4 2 Z*|5)& CATIP Z|5)- HPS1 *1^1g)+COL9A2Z1^|5)VNODAL2` Z)*/01^1_1g|5)9SNCA  Z01^1_|5)8 HTT 201^1_))!IRS22 Z|5)78TBC1D7 201^1_) FYB1)"JLOXL3Z|5)7hSTRADA 201^1_)+KHAVCR2 *1g)AjMDRC1  Z*01^1_1g|5).Z9CDK1901^1_)-yZIC101^1_)PAPOA2)1jINTU01^1_|5)BKCNQ1 2 Z01^1_|5)YkZNF3651^0AK22 *+ 1g)*kYWHAE01^1_%bHCN2Z1^|5)=JNSIK1 2 *01^1_|5)#3uALG10B Z|5)=!FELP1  Z*1^1_|5)= IGF2 2` *01^1_)3!BKCNAB22 01^1_/ PTCHD1Z1^1_|5)+jTNRC6A Z1^|5)B IBA57 Z+ 01^1_|5)N)STAG22` )*/01^1_1g)#8GREB1LZ|5)6 bFOXA2 2`01^1_AYRAB3GAP1 2Z01^1_|5)9DLG4 2Z01^1_|5)+fGAPVD1 *1^1gN(PDHA1 Z*+ 01^1_1gcn|5),)XCOLEC101^1_)<MTR Z01^1_|5)'IL10RA *1g)-#OSMR Z1_|5)BRDT)=DNA2 + 01^1_|5)ADAMTS17)4 PGRN 01^1_|5)+MTRIM7101^1_)nRNF431_)6UCHL1 01^1_|5):PLCE1  Z*1^1g|5)9JAG1 2Z01^1_|5)B[1SYNE1  Z01^1_|5)N?(DOCK8 Z*+ 01^1_1g|5)*QtRBM20 Z|5) KRT2);CHMP1A Z01^1_|5)B\PPARG 2 Z*1^1g|5)KRELT)2AP2S12 *1^1g)ZNYX)9TAF8 Z01^1_|5)9MUSK Z01^1_|5).־THG1L01^1_)7FCGR3A  Z*+ 1g|5).f=INTS101^1_)'!"SEMA7AZ|5)2ABCG501^1_)82CYP17A1 2`01_)4JPOU2AF12 *+ 1^1g3YCEP15201^1_)J SHMGCL *+ 01^1_1g|5)3$hTRIP12201^1_);KMFSD2A Z01^1_|5)*USP53 Z|5)BEPM2A  *01^1_1g|5)nJSLCO1B3?UATP8B1 2 Z*1^1g|5)([XSPECC1LZ1^|5):EIF5A 2Z01^1_|5)B>TRIM8 2 *01^1_1g);ezCHMP2B  Z01^1_|5)KCNJ81^=;B9D2  Z01^1_|5)HSXPA2 *+ 01^1_1g)2CAMK2G1^))0kARSI01^1_6[MACF1 Z01^1_|5)! HBG2 Z|5)<\HEPACAM Z01^1_|5)9UROS  Z*1^1g|5)5e9POT1  Z1^1_|5). ZHMOX1 *+ 1g)GkCREBBP 2 Z*01^1_1g|5)=CYBB  Z*+ 1_1g|5)*YITGA201^1_>TNNT2  Z*01_|5)E!TP63 2` Z*01^1_1g|5))SOX501^1_),oTMEM38BZ1^|5)PPRKAR1A2` Z*01^1_1g|5)R(!STUB12 Z*01^1_1g|5)=o5PIGS Z01^1_|5)2vLARP701^1_)-ASPN):WNT2B)ETRNH 2 *+ 01^1_1gcn2MMP142Z1^|5)//CEP85L01^1_)F GTF2I 2 )*01^1_1g|5<SLC20A2  Z01^1_|5)6NKAP1^)>ETOR1A  Z01^1_|5)8SLC39A7  Z*+ 1g|5)5TLL1  *01_1g);h_LMBRD2 2Z01^1_|5)FoZAP70  Z*+ 01_1g|5)/,GIMAP5 Z*|5)"$KIF3B Z|5)9\SSR4 Z01^1_|5)/fuB3GAT301^1_)9HFAR1 Z01^1_|5)DEIPW 2` Z*01^1_|5)2\PRRT201^1_)YSDHA2 Z*+ 01^1_1gcn|5)/4SH3BP2 Z1^|5):PRPS20 2` 01^1_/FFERMT3 Z*1g|5):OSALL4  Z01^1_|5)&,PODXL01^1_7BMPR1A 2`01^1_)/JARID2201^1_JERCC12 Z*01^1_1g|5)5CD3D  Z*+ 1g|5)/dCFAP45 Z*1g|5)#[LRTOMTZ|5),C8A *1_)/tTIMM22+ 1_)CRYGS)8FGG  Z01_|5).NOVA201^1_)*]AGBL521^)!DPON11^1_agTERT2` Z)*+ /01^1_1g|5)6 HINT1  Z1^1_|5)1+BVES Z1^|5)!&MYO6Z|5);25NEXMIF 2Z01^1_|5)0gNXN *1^1g|5),POU6F2 )'=CFAP52 *1g)_TECTA)"ǥRDH111^)4JZCOL25A1Z1^1_|5)? aARID1A 2 *01^1_1g);*^PDE10A Z01^1_|5)GHRL)JׯFANCI2` *+ 01^1_)@ADORA2A 2 *01^1_|5/PNPLA8Z1^|5)2YANO1001^1_)-%PUM101^1_|5)#dPTGER2 *)FBUB1B 2 *+ 01^1_);FCGR2A  Z*1^1g|5)@%AUH  Z01^1_|5)<LCFAP300  *01^1_1g))ALAD 1^)yCHST8))YSNRNP20021^)PSLC12A32 Z*01^1_1g|5)8+iCIT Z01^1_|5)LNF12 Z*01^1_1g|5).RAB7A *1^1_1g)) HPCAZ1^|5)'KZNF341 *1g)4tPRX Z1^1_|5): HCFC1 Z01^1_|5)1rSTAR2 *1^)*~ITPR32 *1^:!CUL4B 2 *01^1_) GNAI11^)L"C2ORF69 Z*01^1_1g|5)=!CUL3 2Z01^1_|5)68>COQ8B  *1^1g|5),NEUROD12 Z|5))+IL1RAPL11^1_)BSCN1B 2 Z01^1_|5)*KPCARE21^)6ALPK3 Z01_|5)=_MDH2 201^1_cn)-LIN28B1_+>DIAPH3 Z1^|5)ESOX2 2`Z)01^1_|5)5*EBF3 Z01^1_|5)?fZBTB20 2Z01^1_|5)/PIK3R201^1_)PRKACG)6#HACD1  Z*1^1g|5)*DMRT32`01_6bZC4H2 Z01^1_|5).CDH1501^1_)0MET Z*1g|5)!TRNP1^)ASERPING1  Z*1^1_|5)?jqMMADHC Z01^1_|5)D[hATP13A2  Z01^1_|5).JIREB2Z1^1_|5),(;MARCHF6 Z1^|5)KRANBP2 Z)*01^1_1g|5):JLAMB3  Z*1^1g|5)<*\TUBGCP2 Z01^1_|5)MCOG6 Z*+ 01^1_1g|5)=e:RTTN  *01^1_1g)+[TSPYL11^|5)=TEXT2 2Z01^1_|5)/|SLC5A2 *1^)BCD79B  Z*+ 1_1g|5)%'bGPC61^)'STEAP32` ):ZLPIN1  Z*1^1g|5).KISS12Z1^|5)6%NUP93  *1^1g|5)>&KMT2B  Z*01^1_|5)"PER31^)/COL4A4 *1g|5)'JCCDC62 Z|5)5*KCNQ1OT1201^1_):ENARS1 Z01^1_|5)@MGP  *01^1_1g|5)$M5COL27A11^):8PGAP1 Z01^1_|5)EFDOHH  Z*01^1_|5)5*TRAF3IP2 *1^1g);f*ABCA12  Z*1^1g|5)&DLEC1 5hGBA2 01^1_|5)S#`SLC7A72` Z*+ 01^1_1g|5)=ZzMAPK8IP3 2Z01^1_|5)2'UBAC2 *1^1_1gITHRB2` Z*01^1_|5)R7CSPP12` Z*01^1_1g|5)6ECOX7B Z01^1_|5)>JALG11 Z01^1_|5)1IL10 *1^1_1g.;DDHD1Z1^1_|5)DkCBS  Z*01^1_1g|5)LSSLC46A1 Z*+ 01^1_|5);PRDM13 2Z01^1_|5) FTH1)BPROK2 2`)/01^1_)7CDKN2A 2 01^1_)PDE3A)#C5 *1g)5 fH4C9  Z01^1_|5)&zSTAT621^1_%CA5A1^)>ILUQCC2 Z+ 1^1_cn|5)9NAA151^)1UGDH01^1_);uDONSON Z01^1_|5)2LTBP3 *1^1_1g)8֓TRMT10C Z1_cn|5)8"SYNGAP1 Z01^1_|5)-"COPA Z*1g|5).sTUBG101^1_)C"EIF2B4 2Z01^1_|5)6 G6PC1 2 Z*1g|5)5(EMG1 01^1_|5)% ADAMTS19Z|5)6a8LEMD2 01^1_)4eBCR  *01^1_%9NAB221^1_:PYCR1 Z01^1_|5):URIPK4 Z01^1_|5)& LTBP41^)MPEX52 Z*+ 01^1_|5)<TKT 2 Z*1^1g|5)*MAGED22)C_mJMJD1C 2 *+ 01^1_1gnF9)#+FTRIOBPZ|5)8RNASEH1 01^1_|5).:CDAN1 Z+ |5)7HPOLR1B 2 01^1_)$NjGALZ1^|5)MXOCRL2 Z*+ 01^1_1g|5):ERBB4  Z01^1_|5);S NIPAL4  Z*1^1g|5)8C4A  *1^1_1g)TYRP1)>NR0B1 2` Z01_|5)TSLCO2A12` Z*01^1_1g|5)<SHROOM4 2 *01^1_),PPP1R3A2 Z|5)5IL21  Z*+ 1g|5)2 nKLRC4 *1^1_1g>|ITPR1  Z01^1_|5)-UMOD Z*1g|5)'+PSENEN *1g)27gAAGAB Z01_|5)6RAPSN Z01^1_|5)A4ALG8 2Z01^1_|5)0SMS01^1_)!vRHCE *|5JKARS12Z+ 01^1_cn|5)CRYM)C"EIF2B2 2Z01^1_|5)"[ABCA51^)=[zCRB1 2Z01^1_|5)5%;BAG3  Z1^1_|5))f"TRAF3IP121^)$JUP Z|5)$RP921^)#*TXNL4AZ|5)DZpCIC  Z*01^1_1g|5)O%ACADVL Z*+ 01^1_1g|5);[GPR161 2`01^1_|5@7TXNDC15  Z01_|5)rNR2F22),AGL *1^);DIAPH1 Z01^1_|5).1RSPO201_).C1QBP2 Z|5)E!}CASK 2 Z01^1_|5)A GNB1 2 Z*01^1_|5)SLC2A9)C%=POLR1C 2 Z01^1_|5),"CACNA1I01^1_6MFAP5  Z01_|5)6PHKA2 2 Z*1^|5)F ALG14 2 Z01^1_|5)!\|SMPX Z|5)gPPIB):f?LYSET Z01^1_|5)S(SEC23B2 Z*+ 01^1_1g|5)"DCTN4 *+ 6?NUP88 Z01^1_|5)/9LFBXO1101^1_)JASAH1 Z*+ 01^1_1g|5)%PHIPZ1^|5)KyNDUFV22Z+ 01^1_cn|5)<)DARFGEF2 Z01^1_|5)'SLC51BZ|5)ACLN8 )+ 01^1_|5)BHYDIN  Z*01^1_1g|5)"LZNF811^1_:OGDHL Z01^1_|5)9 DPH1 Z01^1_|5) JRDXZ|5)DIAPH2)) PRCD21^).sSTX1B01^1_)BFEZF1 2`)/01^1_))QIRF7 Z*|5)K]MEI1)0C4B Z*1_1g|5A<NAGA  Z01^1_|5)USDHD2 Z*+ 01^1_1g|5)9CPA6 Z01^1_|5)(UQCRFS11^)=ASS1 Z01^1_|5)6SCN3A Z01^1_|5)2aLMOD2Z01_|5)'ACAT21^12UFC101^1_)?%HS2ST1 2Z01^1_|5)9BMP2 2 01^1_)7SCNN1A 2 Z*1g|5)"SCN3B Z|5)=mGMNN 2` *01^1_)1=MC1R 01^1_).ZACVR101^1_)ASANO5  Z*1^1_1g|5)H'ATP6AP2  Z*+ 01^1_|5)+%ZNF59201^1_B5|THOC6  Z*01^1_|5)5iMLH3 2`01^1_|5)*BLVRA Z|5)BFRODAD4  Z*01^1_1g|5):)FARS2 01^1_|5)%GNB41^1_|5)BLHCGR 2` *01^1_1g)B>YIPF5 2Z01^1_|5)(COL10A1Z1^|5)$KLF6)3!>MMP23B2 01^1_JPEX192 Z*01^1_|5).TRPV62 1^):uCEP41 2`01^1_)?ACTL6B 2Z01^1_|5)6Y{DHX30 Z01^1_|5)QLIG32 Z*+ 01^1_|5)>1DTYMK Z01^1_|5))SIRS12 Z|5)MXI1)CmSLC1A4  Z*01^1_|5)B9FRAS1 2 *01^1_|5);DNAAF1  *01^1_1g)*~MEOX11^1_)NFANCB2` Z*+ 01^1_|5)H IL62 Z*01^1_1g|5)8SLC18A3  *01^1_)>RPE65 2Z01^1_|5)$ANG1^1_)JFARSA2` Z01^1_|5)$ƑSLC26A8 Z|5)67NHEJ1  *+ 01_:85SPEF2  *01^1_1g)CCDC781^)2&KIF1401^1_)B]KCTD7 Z+ 01^1_|5)M KDSR2 Z*01^1_1g|5)- GLI1 Z1^|5)>9EDEM3 Z01^1_|5){ADGRG6)K&WASHC52` Z*01^1_|5)iTHAP11^)'TSPAN71^1_)9 |SNORD118 01^1_|5)8 GLS Z01^1_|5)3[NUP18801^1_)'SLC6A2Z|5)>HBLTP1 Z01^1_|5)'[POFUT1 *1g)B DGCR6 2 *+ 01^1_)1SCO1+ 01_)"НCLIC5Z|5)*hOPLAH *1g)B#AIFM1 Z+ 01^1_cn|5):&NR1H4 2 Z*1^|5): RGRIK2 Z01^1_|5).!PRKRA1^1_|5)B\(LEMD3 2 *01^1_1g)MUC7 *)82TMEM165 01^1_)B GP1BA  Z*01^1_|5):"AP3D1  *01^1_)%FJPH2 Z|5)GRBCKDHB  *01^1_1g|5)eRRFX6);ׄDNAAF2  *01^1_1g)&( SPRY2 Z|5)6M IL12A-AS1 *1^1_1g6G{EXOC8 01^1_|5)GPROKR2 2`)/01^1_|5)P#SLC25A42 Z+ 01^1_cn|5)!CDK4 1^)*8TRPM301^1_)(SPP1 *1^1g9#XPR1  Z01^1_|5)<'RASGRP1 2 *+ 1^1g)(*SLC27A4 *1g):ABCC8 2 Z1^1_|5)Q*WFS12` Z*01^1_|5)OXSAMD9L Z*+ 01^1_|5)9[1DOK7 Z01^1_|5)1THPO 01^1_|5)!DAZ2 Z|5)4ALB  *+ 1^|5)9*4GJB6  *01^1_1g)9ASPM Z01^1_|5)*TNNT1Z1^|5)MGMT 1^3) SEMA4D2 *+ 1^1g/iwCYFIP201^1_)2SASS601^1_)?ZNF148 2`Z01^1_|5)B[TNPO3 2 Z*+ 1^1g|5)<DNAJB13  *01^1_1g)8-TMEM240  Z01^1_|5)$4RBMY1A1 Z|5)-CUX101^1_)E GUSB  Z*01^1_1g|5)+oCHRNA2 Z1^|5)=IGSX2 Z)01^1_|5)'STEEP11^1_)TRPM1)9cLDHA  Z*1^1g|5)*&ACAT1 1^)%WMARVELD2Z|5)eLHFPL5)6)CELF2 Z01^1_|5)VWF)G^VPS37D 2 )*01^1_1g|5FHACTG2 2 Z*01^1_1g|5)APCCA  *01^1_1g)-CST6 *1^1g).EDA2R2`01_5PMS1 2`01^1_|5)Bf TCTN3 2 )*01^1_)*HATRIP01^1_2mADCY32Z1^|5)MobDLL12` )*/01^1_1g)@(SLC30A9 Z01^1_|5)%!vPDXK1^|5)CF+MCIDAS  Z*01^1_1g|5).CLCN401^1_)H%$ADAMTS3  *+ 01^1_1g)ACPOMC 2`Z01^1_|5)B IGBP1  Z*01^1_1g|5))YMRAS2 1^)9 BRF1 Z01^1_|5)7XFLVCR2 01^1_)<GTHUMPD1 Z01^1_|5)CRYBB2)4TAT 01^1_)!5ACP21^);VQRICH1 Z01^1_|5)J!uYARS1 Z*01^1_|5)QANK12` Z*01^1_1g|5)VCAN)!YATF61^)DC9ORF72  Z+ 01^1_|5)FMPV17  Z*1^1_1gcn|5)DSLC12A2 2Z01^1_|5)"_ILDR1Z|5)@[ZFYVE26 201^1_|5).XYLT201^1_)?+!B4GAT1 Z01^1_|5)CCDKN1B 2` *01^1_1g)@SLC18A2 Z01^1_|5) CYP2A6)4ANXA5)$EGF1^)>:VPS50 Z01^1_|5)6tPYCR2 01^1_|5)FpABCC6 2 *01^1_1g);EIF2S3 2`01^1_)7jSLC1A2 Z01^1_|5)-NFIA01^1_)25PBRCC32`01^1_9ŶNUS1 Z01^1_|5)?BHGSNAT 2 Z*+ 1^|5)6PLCG2 2 Z*+ 1g|5)1TNFRSF1B *+ 1^1g"ZNF411^1_:&TELO2 Z01^1_|5): @GATA2  *01^1_1g):iVPS41 Z01^1_|5)@'$GNE 2 Z+ 1^1_|5)WRSPO1)5NEFL Z1^1_|5);lNCAPG2 Z01^1_|5)&TAPBP *1g)=INF2  Z*1^1_1g|5)9*PDHB + 01^1_)&)MASP2 *1g)CMCC):ԨSASH3 2 Z*+ 1g|5))ELP2Z1^|5)4OCAT 2 *1^1g)B,NRNF13  Z*01^1_|5) *ZPPP1R17)FASXL1  Z*01^1_1g|5)EDLAT Z+ 01^1_cn|5)A`BCOR 2 *01^1_1g)2RINT1 Z1^|5)S7SRD5A32` Z*01^1_1g|5)HSMARCA2  Z*01^1_1g|5)%׬BBS721^))\BCL6 *1_TAL2 5NEU1  01^1_)+\ARL2BP21^))gSLCO1B1B$CRIPT  Z*01^1_|5).TGFBI Z1^|5)7COL4A3  *1^1g|5)>rMSTO1 2`01^1_)N&RBM8A Z*+ 01^1_1g|5)(EPITPNM3Z1^|5)j`GNMT)< [FXN 2Z+ 1^1_|5)SCHST11) CD244 *=RERE 2 Z01^1_|5)APLEC  Z*1^1_1g|5):bBOLA3 Z+ 1^1_|5)9TRNV 201^1_cn)2YNT5C201^1_)7+MAN1B1 01^1_)0RP22 Z1^|5)(EMDZ1^|5)7tOCARD10  Z*+ 1g|5);KLINGO1 Z01^1_|5)%$TJP2Z|5)FPDE4D 2` Z*01^1_|5)KCNQ31^)KPIK3R12 Z*+ 1^1_1g|5).tARCN101^1_)BTG4)4SLC16A12Z1^|5)G_WRAP53 2 *01^1_1g)7wSLC3A1 2 *+ 1^)BDGCR8 2 *+ 01^1_)SqSLC2A1 Z)*+ 01^1_cn|5)+7vKCTD17 Z1^|5)(LYRM4)DAOA1^)+#DYRK1B01_) #|VCY Z|5):KIF5A  Z01^1_|5)INRAS2 Z*+ 01^1_|5)%ɣCATSPER2Z|5)-ɊNBASZ1^|5)MFGF82` )*/01^1_1g) rTERF2IP 1^/ GABRB201^1_)3~SDR9C7 *1^1g)HETV6 )PNF22` Z)+ /01^1_|5)")nPAICSZ|5)FPRPS1 2 Z*01^1_|5).yKRIT101^1_)ARTL1 2 *01^1_1g|5>NPHS1 2 Z*1^1g|5):ACSL4 Z01^1_|5)GNDUFS7 2+ 01^1_cn|5)8iPLEKHG5  Z1^1_|5)>VEMC10 2Z01^1_|5)(ZFR01^1_*6UVSSAZ+ |5);[TARDBP + 01^1_|5)(CAP2 $HdSLC10A71^)$ AMH2Z|5)/9KLHL1501^1_)+NLGN4X2Z1^|5):<LRRK2  Z01^1_|5)%SVILZ|5)9USP7 2 *01^1_)PATM2 Z*+ 01^1_1g|5)% NME5 *1g)!DNAH10)'ENAM)>@MEIOB 2` Z01_|5)HhEDA2` Z*01^1_1g|5)9 GCLC  *+ 1^1_)1aECE12 Z*1^|5)ANPPA  Z01^1_|5)Y /HLA-DQB12 Z*+ 01^1_1g|5)!,SOBP1^)PLOD2)NDNMT1 Z*+ 01^1_1g|5)Q 1NCF12 Z)*01^1_1g|5)3PABPN1 Z1^1_|5)Q6ACP52` Z*01^1_1g|5)VERCC42` Z*+ 01^1_1g|5)*dLMOD1 Z*|5)$COL14A101_3ZFBXW11201^1_)(fDCTZ1^|5).EAGGF101^1_ENFIX 2 Z*01^1_1g|5)2'#SH2B3 01^1_)<TNDN 2` *01^1_%EMX201_-PHKB *1^)>SATB1 2 *01^1_|5)*]CLPXZ|5)(ԸMOV10L1 Z|5) nSLITRK11^)8TNR Z01^1_|5)GSDME);SCNN1G 2 Z*1g|5)3pDALRD301^1_):߁TTC7A 2 Z*+ 1g|5)JQZNFX1 Z*01^1_1g|5)8SLC41A1  Z*1^|5)2 qGFPT1Z1^1_|5)" GSTM3 *+ 7TTC21B)* \IDH3B21^);ZNF335 Z01^1_|5)% DSC2 Z|5)9<TUBB Z01^1_|5)>$PEX16 201^1_|5)GSPATA16)=SMN1  Z*1^1_|5).PLAG12 *1^)>MIPEP Z01^1_|5)/CLDN11Z1^1_|5)E`CPT2  Z+ 01^1_|5)EKjHPDL 2Z01^1_cn|5)IDNSD12 Z*01^1_1g|5)IjLYST Z*01^1_1g|5)6ܟKCNQ5 Z01^1_|5)JPRMT72 Z*01^1_1g|5)EeECM1  Z*01^1_1g|5)B#BMP15 2`Z01^1_|5)BIPEX12 2Z01^1_|5)9CYTB 2+ 01^1_)MMP19)@&rPLEKHM1 2 Z*1_1g|5)@SMARCD1 2 *01^1_1g):&CENPE Z01^1_|5),DSTZ1^|5)9%PIGB 01^1_|5)>jSHOC1 2` Z01_|5),yFAM111B2 *1g)08CCDC1342Z1^|5)6 GABRD 2 01^1_)DPRKAR1B  Z*01^1_1g|5)NlMECP22 Z*+ 01^1_cn|5)F\FLRT3 2`Z)/01^1_|5)9oTLR8 2 Z*+ 1g|5)ELRP5 2 Z01^1_|5)N8uTTC262` Z*01^1_|5)1TTC82Z1^|5)<08SLC6A19  *1^1_1g)?ٗPOLR3B 2Z01^1_|5)*PDZD8Z1^|5)*ԍNLGN32Z1^|5)4iDCX Z01^1_|5)) GPD1 Z|5)3*MAPRE201^1_)*pIFT4301_)9%4TECR Z01^1_|5)-RORA01^1_)B(5TRAIP  Z*01^1_|5)>7JRDH12 2Z01^1_|5)JWMCCC2 Z*+ 01^1_1g|5)*4MATN3Z1^|5)֐BPNT2)-'FUBA2 Z*1^|5)*CLIC201^1_)ADCY10)!ASPHZ|5))7HPS6 *1^)" HPRT11^)9TAF2 Z01^1_|5)6 IL2RB  Z*+ 1g|5).9L1CAM01^1_)ASOX9 2` Z*01^1_|5)DDRGK1 );SEXOSC5 Z01^1_|5)J*?CPLX12 Z*01^1_1g|5)9SC5D  01^1_)2ABCA3 Z*1g|5)2DDX1101^1_)$SLC45A21^)UAKR1C4).LMAN101_)NOBOX)GPET100 Z+ 01^1_cn|5)(1KIZ21^)<tDSE  *01^1_1g)FRAD51 2` *+ 01^1_)7 GABRA1 Z01^1_|5)2$COX5AZ+ 1^|5)>)PTF1A 201^1_|5)2 +GPR352 *+ 1^1g1%ARHGEF10 Z1^1_|5)AK1)%CELSR1 )-aAPRT Z*|5)TNNT3)F[DMXL2 2`Z01^1_|5)Y5SMARCAL12` Z*+ 01^1_1g|5)@SLC16A2 2`Z01^1_|5)EǯSBDS 2` *01^1_1g)E HGBE1  Z01^1_|5)%'PRG4 *1g)#MRPS23+ )IPIGA Z*01^1_1g|5)>NALCN Z01^1_|5)3&?PTDSS1201^1_)NPR2)CLCN5|5)+ANAPC7Z1^|5).&TRPM6Z1^|5)4SULT2B1 *1^1g):/DHX37 2`01^1_)&9IHKDC1 Z|5)0PPP2R2B01^1_)BARVCF 2 *+ 01^1_1gMdTERC2 Z*01^1_1g|5)DOPN1LW1^),NEUROG32Z|5)(kTUB21^).<PSMB4 *+ 1g)BERBB2 2 Z*1^1_|5)6;TRPS1  *01^1_))-PDK31^1_|5)aCHMZ|5)NDLAMA2 Z*01^1_1g|5)M*!WDR42` Z*01^1_|5)8DYNC1H1 Z01^1_|5)7CDKN2C 2` 01^1_6OAPOA1  Z*1g|5)FY`MORC2  Z*01^1_1g|5)/IL10RB Z*1g|5)+(TOMM4001^1_,UNG *+ 1g)@dADA 2 Z*+ 1^1g|5)>"HERC1 Z01^1_|5)]XRCC3)=AHI1 2`01^1_)B6CARS2 Z+ 01^1_|5):dDSTYK Z01^1_|5). H3-3A01^1_)CNKX3-2)$'RASGRP2Z|5)&ALDOB1^)<CWF19L1 Z01^1_|5):>ASH1L 2Z01^1_|5)4COL12A1Z1^1_|5)3PPOU3F42`01^1_).9XALPK1 Z1^|5)6jSRPX2 2`01^1_)ERNF2 2 Z*01^1_1g|5);KRIL17RC  Z*1^1g|5)<TNFAIP3  Z*1^1g|5):fKIFBP Z01^1_|5);UQCRC1  Z01^1_|5)2\MCM102 Z*|5)BcSKIC2 2 Z*+ 1^1g|5)/c\RILPL1 Z1^|5)F$;BCL7B 2 )*01^1_1g|5:*PRDX3  Z01^1_|5)1jiBBS92Z1^|5)ɓMETTL13)?TP53RK  *01^1_)9!ARV1 Z01^1_|5)EuSLC25A24  Z*01^1_1g|5)KMnSHANK3 Z*01^1_1g|5)<LHB 2` Z01_|5)RPL21)5bPIGV 01^1_)4\TSPAN1201^1_)D FTL  Z)01^1_|5)'>FBXO381^1_|5)/OPOU3F301^1_)HPIK3C2A 2 )+ 01^1_)JMTHFR2` Z01^1_|5)8+SUPT16H Z01^1_|5)"!DDX3Y Z|5)JfsPHGDH2 *01^1_1g|5) NARL6IP621^6 "HLA-B 2 *1^1_1g6PRKG1  Z01_|5)%?DVL1Z1^|5) HOXA11):HSHMT2 Z01^1_|5)?׎RNF220 Z01^1_|5)*'NR2E321^)4%RB1  01^1_)$%NRL21^))qCOA3+ 1^)#MYO15AZ|5)PTPRJ)=&MAFB  Z01^1_|5)I GALC Z*01^1_|5)?RPL35A  Z01^1_|5)-Z]PHF801^1_):[KAT6B 2 *01^1_){GRK1)*(MERTK21^)M7RNASEH2B2 *01^1_1gcn)4[SLC44A101^1_)J1CDIN1 )DCOL11A1  *01_1g|5):VAMP1  Z*1^1_|5)2tGPSM201^1_)At@BLNK  Z*+ 1_1g|5) HSD11B12)8PAH  *01^1_1g*CERKL21^)*h3CDHR121^)"`GPR881^);%CEP135 Z01^1_|5)PLD1)2 GHRHR2`01_).AXL2)/BELOVL1Z1^1_|5)5 GYG1  Z+ 1^|5);ALOXE3  Z*1^1g|5)(SLC10A2Z|5)eTMEM98)1MMAA Z1^|5)CCOL3A1  *01^1_1g)1UROD *1^1g)DMME  Z*01^1_1g|5)H,SLC26A2  Z*01^1_|5)5 IL6R  Z*+ 1g|5)/9YCFAP4301^1_)DPLG  Z*01_1g|5)>CLCN3 2Z01^1_|5),}TNFRSF4 Z*|5)BߏSNX14  Z01^1_|5)9(COG5  01^1_)7mF8  Z01^1_|5)I KRT5 Z*+ 01^1_1g|5)ɥKLF131^)1 FMO3 *1^1g)DKNBN  *+ 01^1_1g)$TNF *1^)A)DLL3  Z*01^1_|5)eAPPL12)CPAPPA2 2Z01^1_|5)AMMP1 2 Z*+ 1^1g|5)>lPGAP3 Z01^1_|5)HgARMC2)2PTPRO *1^1g)AHDPM3  Z01^1_|5)F$LONP1  *01^1_1gcn)PTPN14)D)@SLC19A2 2 Z01^1_|5)!EPON21^1_&ASCL11^1_|55hCRAT Z01^1_|5):!EIF3F Z01^1_|5)"ZsCLCC11^)D%CCDC103  Z*01^1_1g|5)1PHYH 1^1_))APERPZ1^|5)E\*ORC6  Z*01^1_1g|5)CSNK1D1^)/IMEGF10Z1^1_|5)Cw.DNAAF4  Z*01^1_1g|5)?98CEP290 2` 01^1_)A!wMADD 2`01^1_|5)?KCNMA1 2Z01^1_|5)&[ SASH12Z|5).qKCNK401^1_)9[TGDS  *01^1_1g)F%CLIP2 2 )*01^1_1g|5?SaCHAMP1  Z*01^1_|5)>9COASY Z)01^1_|5)1 aGDF1 01_): EPRS1 Z01^1_|5)6LREPS1 01^1_|5)47+DYNC2H101_)?֥SDHAF2 2 Z01^1_|5)TIMP3)7COL4A5 2 *1^1g|5)&PRODH1^)K(SEMA3A2` Z)/01^1_|5)+CYB561Z|5)9YODC1  *01^1_)pPTHLH)%TAC321^)ANPM1 2 *01^1_1g)6$MED27 201^1_):%(PMPCB 01^1_|5):~ADH1C  Z01^1_|5)WEE2)C\NDUFA6 2+ 01^1_cn)HND52 *+ 01^1_1gcn)2+CHEK22 01_)LBWT12` Z*01^1_1g|5)DCHCHD10  Z+ 01^1_|5)TNSLC39A42 Z*+ 01^1_1g|5)ADKC1 2 *01^1_1g)=iRFX5  *+ 1^1_1g)*!^APOL1 *1^1g> \NR3C1 2 *01^1_1g).WBP1101^1_)3eyNECAP101^1_)E aIDUA  Z*01^1_1g|5)MMOGS2 Z*+ 01^1_|5)- GJA801^1_).YFNTNG1201^1_ACD19  Z*+ 1_1g|5)7#SLC6A5  Z*1^1g|5)?CDKN1C 2` *01^1_);ՔGTPBP2 Z01^1_|5)>DOCK3 2Z01^1_|5)-NMCM501_)F$MYO5A  Z*01^1_|5)6!CDK13 Z01^1_|5)NhNSUN22 Z*01^1_1g|5)5%ATG5 Z01^1_|5)>ZMCCC1  Z01^1_|5)9 RBPJ  Z01^1_|5)PTXPC2 Z*+ 01^1_1g|5)FɑLIPT1 Z+ 01^1_cn|5)>e}DNAH1 2 *01^1_1g)6IMPG2 2 Z1^|5)FhGORAB  Z*01^1_1g|5)PXDN)B|ABCB4 2 Z*1^1g|5).MAP3K8)%kTFAMZ|5)VEGFC)5\SHPK  *01_1gV 3SMC1A2` Z)*/01^1_1g|5):KCNQ2 Z01^1_|5)=QDPR Z01^1_|5)!"TIMELESS1^)AFP)E\SIM1 2` )*/01^1_> HSPA9  *01^1_1g)>3ACOX1 Z01^1_|5)7hADARB1 01^1_)9'CD96  *01^1_|5)<CACNA1B  *01^1_)-ԫANLN *1^1g)RwRFWD32` Z*+ 01^1_|5))DLX4 *1^1g) HOXD10)RPL13)"";CD164 Z|5)SAA1219OOPA301^1_))PYGL21^):#COPB1 Z01^1_|5)KxNDUFS82Z+ 01^1_cn|5)? IFNGR1  *+ 1^1_1g)>jPGAP2 Z01^1_|5)F'HFARSB  Z*01^1_|5)=<ETFA + 01^1_|5))CSTBZ1^|5)ǹANGPTL4)6XRPS27  01^1_)KevMMACHC Z*01^1_1g|5)BYMNLRP1 2 Z*+ 1^1g|5)/"MCM3APZ1^1_|5)&7CAPN11^1_)=)KAT5  Z*01^1_|5);\FRRS1L Z01^1_|5)[HARS2)5SMN2  Z1^1_|5)2xCHRNDZ1^1_|5)ASOX17)-[CAV3 Z1^|5)VACTL9)8"PCDHGC4 Z01^1_|5)7YXSEC31A 01^1_|5)$SYP1^1_))ENO3 Z|5):eC2CD3 Z01^1_|5)M&:KIAA05862` *01^1_1g)H GAA Z*01^1_|5)6FOXF1  01^1_|5)SYN21^);ZITGA2B Z01^1_|5)AYCCT5  Z*1^1_1g|5)0 CACNA1S2Z1^|5)!LIPHZ|5)!CDH3 *)*MS4A2 *+ 1g)C"cSUCLA2 Z+ 01^1_|5)>ȢCDC40  Z01^1_|5):iNPHP3  Z01^1_|5):XVARS2 Z01^1_|5)>jRFXAP  *+ 1^1_1g)>KSMPD4 201^1_|5); GUCY2D Z01^1_|5)2CEBPE *1_)F8NUP85  *01^1_1g|5)M -HLA-DQA12 *+ 01^1_1g)1JCBX22`01_)AYCAV1 2 Z*1^1g|5)&TRNL22+ 1^3CPSMB10 Z*1g|5))GRAP)*TNNC1 Z|5):NLAMC2  Z*1^1g|5)(SLC10A1Z|5):]THSD1  Z01^1_|5)-eCATL3 *1^1_1g)&]CD320Z|5)M(9APC22 Z*01^1_1g|5)7COL4A6  Z*1^1g|5)GQBCKDHA  *01^1_1g|5)++KDELR2Z1^|5)%PMP21^1_|5):)xRBCK1  Z*1^1g|5)9rTOE1 Z01^1_|5)/(CYP3A42Z1^|5)&H;ZFP5721^)DRD21^8ZARHGEF9 Z01^1_|5)6 LZTR1 2 1^1_)<MSELENOI Z01^1_|5)=^C12ORF57 Z01^1_|5)yPGR)Q7ALG92` Z*01^1_1g|5)8COL13A1  Z*1^1_|5)UzZIC22` Z)*/01^1_1g|5)*MOCOS Z|5)R#PDGFB2` Z)+ /01^1_|5)&AURKC Z|5)BCXCR4  Z*+ 1^1_1g|5)" TRPM4 *1g) HDC1^)*iACAD8+ 1^)A"mDPM1  Z01^1_|5)ERAG1 2 Z*+ 1_1g|5)LORICRIN)2&MED13201^1_)3MED12L01^1_)&CSF3R *)(COL11A2 *1g); COL6A3  Z*1^1_|5)"PITX31^).FOXC12`01_)JaFANCM2` *+ 01^1_);'TOPORS 2)01^1_)9LIFR 2 Z*1^|5)3PXK  Z1^1_|5)*IPRPH221^)J4ALG122 *+ 01^1_1g)E HSD17B10 Z+ 01^1_cn|5)2(OLAMC301^1_).MCASQ2 Z1^|5)3ePOLR1AZ01_|5)&1NTHL11_);NOTCH1  Z01^1_|5)(PML *1^1gMiAFF42` Z*01^1_1g|5)*?FIGLA2`01_6PLCD1 2 *1^1g)7FCGR3B 2 *1_1g|5:`KMT2E 2Z01^1_|5)AePIGU  Z*01^1_|5)1SERPINF201_)6VWA3B 01^1_|5)R CGATA62` Z*01^1_1g|5)2 GNPAT01^1_)0eTBC1D8B *1^1g)7ZYPLXND1 2 *1^1_1g|5"DCAF81^1_)*PDE6G21^)*1KRT83Z1^|5)FXYLT1  Z*01^1_1g|5)UPMM22` Z*+ 01^1_1g|5)GYNDUFA4 Z+ 01^1_cn|5)F:KAT6A  Z*01^1_1g|5)C*PNPLA6 2`Z01^1_|5)3+PDCD10Z01^1_|5)@~SLC52A3  Z*01^1_|5)6KIF5C Z01^1_|5)/eGIGYF201^1_)1 EHLCS *1^1g)+(TKLHL411^1_)78SPTBN2 Z01^1_|5):8KDHDDS 201^1_);&TECPR2  *01^1_)FKATAD1  Z*01^1_1g|5)C,KCNJ18 2` Z01^1_|5)$#ARHGEF1 *)MRAP2)-rEDN101^1_)<MAF  *01^1_1g)%LRP11^1_)G^NDUFA8 Z+ 01^1_cn|5) SERPIND1)&9FLAD11^)&]RB1CC1)-COCH Z1_|5)IwMKS12` Z01^1_|5)NPRIM12 Z*+ 01^1_|5)9 ZIDH2 2` 01^1_)3'ADNAJB6 Z1^1_|5)2PCYT201^1_)8((SIGMAR1 01^1_|5):ELANE  Z*+ 1^1g|5)=_LHX4 2`01^1_|5):VPS53 Z01^1_|5)="CTSF  Z01^1_|5)3ȍZBTB7A Z*1^1g|5).FOXL22`01_)ONKX2-52 Z*+ 01^1_1g|5)C2 *): NDST1 Z01^1_|5)2)\MTHFS01^1_)+9COX6A11^1_|5)7 D2HGDH 01^1_)9CPDX1 2 Z1^1_|5)3EIF4G101^1_|5)*CNGA121^)[TEAD1|5).ǬMRPS2Z1^|5) 7TTC21A)J'KDNM1L2Z+ 01^1_cn|5)GRNF168  *+ 01^1_1g); COL6A2  Z*1^1_|5)BvPEX26 2Z01^1_|5)DPPP1R21  Z*01^1_|5)<EIF2AK2  Z01^1_|5)"٢TENM31^):#PLOD3 Z01^1_|5)HPNP Z*+ 01^1_1g|5)1PAX301^1_):MANBA  Z*1^1_|5)RTGFB12 Z*+ 01^1_1g|5)9 GAD1 Z01^1_|5)3KRT85)"CANT11^)%P2RY12)C*AFG3L2  Z+ 01^1_|5)-XVWA1Z1^1_|5)5޹COQ9 01^1_):"WASF1 2 *01^1_)F_6UBE3B  Z*01^1_|5),mSLC7A1421^)* WHMGA12 Z|5)6<RPS10  01^1_)+5MIR140 *1^)cPADI6)E GPC3 2 *+ 01^1_|5)SNRPE)6ޒPRDM8 01^1_|5))MYRF Z1^|5)=MIA3 2 Z*1^1g|5)"ZbRABL32 )0#[PSTPIP12 *+ 1g)6gDCTN1  Z1^1_|5)*CTPS1 *+ )C_ZNF699  *01^1_1g)ATP2A21^),JKIRREL301^1_:OSYCP3 2` Z01_|5)ALDH2)FTARS1  *+ 01^1_1g)>CDH11 Z01^1_|5)(TUBB4B)9NAPB Z01^1_|5)5\^PLD3  Z01^1_|5)]SUFU2` Z)*+ /01^1_|5)DmTRMT10A 2Z01^1_|5)EFKTN  Z01^1_|5).j1DISC1 *01_:ɽPPIL1  01^1_|5)!-DTNA Z|5)/KLHL102`01_)6BSCYL1  01^1_)0TREN01_)7eIGEMIN5 Z01^1_|5)<)SPR Z01^1_|5)'C9 Z*|5)5LIPA 2 Z1^|5)7WBCL11A Z01^1_|5)9rNME8  *01^1_1g).KBCAT21^1_). 1RBM1001^1_)HaNDUFA10 Z+ 01^1_cn|5)EtICOS  Z*+ 1_1g|5)1 DGATMZ+ 1^|5)*ELMO221^)A H4C3  Z*01^1_1g|5)0ALOX5AP Z01_|5%eaPNKDZ1^|5)B)YPOMT1 Z)01^1_|5).yCHRNEZ1^1_|5).7MYH14+ 1^1_|5))RORC2 Z|5)JGLIS2)!DRD31^|5):aYIF1B Z01^1_|5)&'KCNE321^);^PCDH12 Z01^1_|5)LǴIER3IP12 Z*01^1_|5)=!8PEX3 201^1_|5)ITRNW2 *+ 01^1_1gcn)6KCNB1 Z01^1_|5)#7ZNF750 *1g)0!ATR01^1_)%dtSLC39A131^)2 GLRA2 Z*1^1g|5)C[3SMCHD1 2 Z01^1_|5)I[ATP6V0A2  Z*01^1_|5)= FSHB 2` Z01_|5) #HLA-C *1g-6SPTB *1^1g)@;COL18A1  Z01^1_|5)FLGR42)1 GJB101^1_|5)@TRAPPC4 2Z01^1_|5)?דVPS13D  Z01^1_|5)! MYF51^)=MYCN  *01^1_1g) 1BHLHA9)NLMX1B Z*01^1_1g|5)5MIR184)!JRK1^ FRA16E1^@ HSD11B2 2Z01^1_|5)SSLC6A185TBXT Z01_|5)2&LRIG2 Z*1^|5);)>SPTLC1  *01^1_1g)1TET301^1_)@ TRH 2`)/01^1_)-iPPA2Z1^|5)B)HYOU1  Z*+ 1_1g|5)NFGFR12` )*/01^1_1g)AYSYT2  Z*01^1_|5)2MASP101^1_):[eNCAPH Z01^1_|5)KSRP72)5(MYL9  *01_))}gLGI4Z1^|5)AiTPK1 Z01^1_cn|5)3׭RCBTB12 Z1^|5)1RIT12 *1^1g)#JZNF4691^)NMSMO12 Z*01^1_1g|5)(JXDH *1g)&7zBBS1021^)ENPC1  Z01^1_|5)M TRAPPC112` *01^1_1g)6CD247  Z*+ 1g|5)&OXCT1Z|5)=qALX4 2Z01^1_|5)0cCBL2 *1^1g):MFSD8 Z01^1_|5)"OVOL21^)Z6SIPA1L3)4aSKI 2 01^1_).9TRPC6 *1^1g)QCDON2` )*/01^1_1g|5)<PSRY 2` *01^1_1g)LDNAJB112` Z*01_1g|5)!QRPSA Z|5)Q7EFL12` Z*01^1_1g|5)>)OTUD5  Z01^1_|5)NDHCR72 Z*01^1_1g|5)"SCN2B Z|5)*@RPS14 Z*|5NFIB1^)<qANKRD11  *01^1_1g)"PPOC1B1^)>PROP1 2`01^1_):FOXE3  Z01_|5)GMPLKIP  *+ 01^1_1g)2}CEP5501_|5)MYH81^)%ǞMECR1^|5):CNOT3 2Z01^1_|5)WACTN1)"YHCHSY11^)"PDE6C1^)&tMYL11Z|5))PKLR Z|5).*MALT12 *1g)\APOL21^).fHSPB8 Z1^1_|5)*FPSMC3Z1^|5);BEXOSC3 Z01^1_|5)?$HS6ST1 2`)/01^1_)JPSEN1 Z*01^1_1g|5)%ZREST Z|5)-MSX201^1_)+CSF2RB *1g):ZODAD2  *01^1_1g)mACP4)!CANO1Z|5)9*CLP1 Z01^1_|5)2?LAS1L201^1_)=PKD1 2` *01_1g)92ACO2 Z01^1_|5)BEXOC2  Z)01^1_|5)B IL2RG 2 Z*+ 1_1g|5)&%RIMS21^)D {B4GALT1 2 *01^1_1g)1ZMESD01^1_)JDGUOK Z+ 01^1_|5)GMRPS25 2Z+ 01^1_|5)#3TENT5A1^)PLS1)NTRNL12` *+ 01^1_1gcn)/G TLCD3B Z1^|5)ACYBA  Z*+ 1_1g|5)=BUB1 2 *01^1_)&pADCY61^1_)B IGF1R 2Z01^1_|5)%KNG1 Z|5)CRYBB1)F[SPIDR 2`Z01^1_|5)5MIR204)<'SLC12A6 01^1_|5)LSLC29A32` *01^1_1g)>lSYCE1 2` Z01_|5).FGF1201^1_)%CYC11^)/YqCEP16401^1_)1*MSL3201^1_)ESMG9  Z*01^1_1g|5)= +HLA-DPB1 2` *1^1_1g<ATXN8OS  Z01^1_|5))TYK2 *+ )/sCHRNA701^1_)7WC11ORF80)DERF 2` Z*01^1_1g|5):7SUGCT 201^1_);"NMNAT1 Z01^1_|5)6RPL15  01^1_)?fOPTPN22 2` *1^1_1g)'CFAP44 Z|5):RAB23 2 01^1_)8 GLA 2Z01^1_|5)9ORC1 Z01^1_|5)9fSACS Z01^1_|5)$HOMER2)!4MLPHZ|5)>URSPO4)1GESPN01^1_)DSON  Z*+ 01^1_|5)BSMAD2  Z01^1_|5)+DNASE1 *1^1g)#7TAF1A )NOS1 *1^1g.,3PARK7 Z1^|5)EPHX2):EWDR81 Z01^1_|5)Ca0CCDC32 2 Z01^1_|5)?ARID1B 2 *01^1_1g) MAD1L1)<uCFB  Z*1_1g|5)GhMCOLN1 2Z+ 01^1_|5),ZARL6IP1Z1^|5)44SLC26A42Z1^|5)GMAP2K2 2` Z01^1_|5)-aLCP2 *+ 1g)29NFHOD3 Z01_|5)KeSSAMHD12 *01^1_1gcn):7 MCPH1 + 01^1_)/RAB39B01^1_)5ARHGAP31 01^1_)4 HGD  Z*1g|5)D(fTFG  Z*1^1_1g|5)M&FIG4 Z*01^1_1g|5)*jfGPKOW)01_)DLX5Z1^|5)ڽCFC1 )9BNC1 2`01^1_)-JOAS1 Z*+ |5):NPHS2  Z*1^1g|5)SLC6A41^)GZF1)%SRELB *1g)-QCHD1 Z*1^|5)=ZEOGT  Z01^1_|5)IHGTF2IRD2 2 )*01^1_1g|5/SLC6A101^1_)DȤZMYND10  Z*01^1_1g|5)E COMT 2 *+ 01^1_1g)(>NECTIN4Z|5)7LRRC8A  *+ 1_1g)TCHH)>{STT3B Z01^1_|5)unRAX)7FH 201^1_)ATYMS  Z*+ 01^1_|5 IL1BG]eNSMCE2 2` *01_1g))TBCL2 *1_'HELMOD3 Z|5)59RPS7  01^1_)Q IFNG2` Z*01^1_1g|5)>ZRPS28  Z01^1_|5)-7CLMPZ1^|5)+ANKFY1 *1^1g; HSD3B2 2`01^1_)1(HAX1 Z*1^|5):ACARS1 201^1_)FdECHS1 Z+ 01^1_cn|5)B"vFGF17 2`)/01^1_)*DSPP),%RAPGEF2 Z1^|5)=WMSH5 2` Z01_|5)7dATXN10  Z01^1_|5)+VSX2)MQTSC22` Z*01^1_|5)&wPPM1B2+ 1^-ATP82`01^1_<PTS Z01^1_|5)1{ZIC3 Z01_|5)3#oCLDN102Z1^|5)>{YARS2 201^1_|5)3SNAP25 Z*1^1_|5)AAC14ORF39 2` Z01_|5)PRCC)F#KIF1A  Z*01^1_|5)|TNFSF41^FANOS1 2`Z)/01^1_|5)$DNAJC121^),|HELLPAR01^1_$yBGN01_)>[RPS29  Z01^1_|5).hIL17F *1^1g)EARSB  Z*01^1_1g|5))CD8A Z*|5):[DAAM2  Z*1^1g|5)CSPTBN4  Z*01^1_|5)U EGBA12 Z*+ 01^1_1g|5)KDRZ|5)=TPM2  Z*1^1_1g|5)9TAFAZZIN  Z*+ 1^|5)3fALKBH801^1_)8RPGRIP1  01^1_)J TNFRSF13C  Z*+ 1_1g|5)}CFAP65):wRSRC1 Z01^1_|5)7޼VPS35L Z01^1_|5)9#PIGQ 201^1_)7 WGRIN2A  *01^1_): NR5A1 2`01^1_)/)}POLR3F *01_))RRELA01^1_)?/COX4I1 + 01^1_cn)GiTIMM50 Z+ 01^1_cn|5)N)FBLN5 Z*01^1_1g|5)=LRP2 Z01^1_|5)5S4HCN1 Z01^1_|5)?MYBPC3  Z01_|5)2+WDR4501^1_)7[NEDD4L Z01^1_|5)#RGS9BP1^)HRZ|5).0POLD1201_)=RALGAPA1  *01^1_)ETMSH2 2` Z01^1_|5)7#RHBDF21^)BkMARS2 2`Z01^1_|5)JCLCN7 Z*+ 01^1_1g|5) OCFP *)6*SF3B2 Z01^1_|5)@OTC  Z01^1_|5)9YRPIA 01^1_cn)6KMT2A 2`01^1_)&DSG3),C8B *1_)<~CRX 2Z01^1_|5)NiBCS1L2 Z*01^1_1g|5)1$NTN1201^1_)#d+SCARF2Z|5)9FGF3  Z*1^1_1g|5):$<COPB2 Z01^1_|5)7ATP1A1 01^1_|5))$OTOFZ1^|5)CeNDUFB3 2+ 01^1_cn)V, TREX12 Z*01^1_1gcn|5)>2GDAP2  Z01^1_|5)"GLRMDA1^)J 6NADK2 *+ 01^1_1g|5)SLC17A8)=MPC1 Z01^1_|5)#-CYP7A1 *1gCLRRC56  Z*01^1_1g|5)8KPOMGNT2 01^1_)2ZTEX152`01_)@CACNA1C 2 Z*1^1g|5)%GNA141^>TAOK1  *01^1_1g)^IKIF4A1^)~BCO1).KCNC301^1_|5)KgRAX21^)FTIAM1 2Z)01^1_|5).LUSP4501^1_)9LMF1 2 Z*1g|5)<.DNAJC19 201^1_)MIB1)7&4PIEZO1 2 *1^1g)2$UBE4A01^1_)%PDAXX2 1_-PRICKLE201^1_'ATP2B2 Z|5)#xCLDN9) "CACNA1H1^)ARL2Z|5)*u9TBX21 Z*|5)KPRKACA2` Z*01^1_1g|5)7TH Z1^1_cn|5)" ~HOXA11^)#TRPA1Z|5)I H4C52 Z*01^1_1g|5). HOXB1Z1^1_|5).AP2M101^1_)FILAMB2  Z*01^1_|5)5 HADH 2Z+ 1^|5)?#LARGE1 Z01^1_|5)=ȫPOMP  Z*+ 1^1g|5)'kF701_)B;jTSEN2  Z*01^1_|5)4ZDENND5A01^1_)J'| MKRN3-AS1 2` Z*01^1_|5)#GLT8D11^1_BS6MYO1H  Z*1^1_1g|5)#PLAGL121^D CFH  Z*01^1_|5)#'>MAMLD121^)?!RFXANK  *+ 1^1_1g)8քTMEM260 01_|5)TNNI2)Bk%HTRA2  01^1_cn|5)}ITPR2)= UBR1 201^1_|5)6uEDNRA  Z*+ 1^|5) GP6Z|5),NOATZ1^|5)"wFGF16)!SERPINC1|5)ABCC2)8ND3 2+ 01^1_cn6%RUBCN Z01^1_|5): IL1RN  Z*1^1g|5)9FDXR + 01^1_)?ATP1A3  Z01^1_|5)0EPB41L101^1_)JFOXP32 Z*+ 01^1_1g|5)=MYMK Z01^1_|5)# IFNAR2 *)%JAK12 *1g)1"MBD4 Z1_|5)+#UNC119 *1^1g)6;3BEAN1  Z01^1_|5) IL13 *)9SOX3 2`01^1_)2ǛABHD5 1^1_)CTRIM37  Z*01^1_|5)%]RRAS2 1^6SFYCO1)(MAK21^)=EDAG1 Z01^1_|5)J4NUP37 Z*01^1_1g|5)%KLK4)&ALAS2 Z|5)LELN2 Z)*01^1_1g|5)9ǃTMX2 Z01^1_|5)IMMUT Z*01^1_1g|5)CRYGB)WCTNNB12` Z)*01^1_1g|5)[:RNF212).erSH2B1201^1_&TTERB1 Z|5).PITX22`01_))7ePPCS Z|5);4TSEN34  *01^1_)M;INSR2 Z*01^1_|5)&HYMAI21^)2ZKANK1Z01^1_|59 nGFAP  Z01^1_|5)AE5B3GALNT2 Z01^1_|5)9>MC2R 2 Z*1^|5).CERS3 Z*1g|5) KRT6A) NR0B2)@SMARCC2 2 *01^1_1g)4HaTMEM22201^1_)0SYK Z*+ 1g|5)6ALDOA 2 Z1^|5)KoNDUFS12Z+ 01^1_cn|5)4CTNNBL1 Z*+ |5)F\NPAP1 2` Z*01^1_|5)B7ALG13  Z*01^1_|5)PJVK)2ȋDACT1201^1_)<iTTN  Z+ 1^1_|5)ITRNN2Z+ 01^1_cn|5)' SPAG17 Z|5)/`1HS6ST201^1_)>6TCTN1 2` 01^1_)A~KIF7 Z)01^1_|5)VSSBP1)<GAN 2`Z01^1_|5)#KCNQ4|5)-%eGDF3Z1^1_|5)UTCHD72` Z)*/01^1_1g|5)CRYBA1)Kc SNORD116-1 2` Z*01^1_|5)*ABCB7Z1^|5) HBG1 )OCC2D2A2` Z01^1_|5)9 oGFER + 01^1_).%,LITAF Z1^1_|5)EGPC4 2 *+ 01^1_|5)5 GLRB  Z*1^1g|5)3(SLC9A601^1_|5)6PTPRC  Z*+ 1g|5)KRT13)1SERPINI101^1_)&7ZFHX41^1_)!3OTOG1^)2YWDFY3201^1_)-IBBS42Z1^|5)BKCNJ2 2 Z01^1_|5)-cCHN101^1_):CRYAB  Z1^1_|5)VIMZ|5)>uDARS2 01^1_cn|5).ZmFCHO1 Z*1g|5)) GPD22 Z|5)C!SLC4A4  Z01^1_|5),(DSP Z|5)&4KRT86Z1^|5)-PAX1 *1^1g)'CSF2RA *1g)BYRRAS2 2` *01^1_1g)!(YAP11^)=MBD5  Z*01^1_|5)#'CALCRL|5)=lUBR7 2Z01^1_|5);SLC26A5)<5$CCDC28B 2 Z*1^|5). AMER101^1_)ErPDHX Z+ 01^1_cn|5)IPAFAH1B1  Z*01^1_1g|5)LRP62)=CDH1  Z*1^1_1g|5)*%CALM2Z1^|5))SCGATC2+ |5)PTPN12)6ACSF3 01^1_)"#TBX18 Z|5):l1ODAD1  *01^1_1g))WSLC25A421^)& YMUC5B *+ )-dMTO1Z1^|5)B=HDAC8 2 *01^1_1g)5 SLC25A11201^1_)4WST3GAL301^1_)7JCOX4I2  Z*1^1g|5)$5CYP21A22)LMO11_8SCPE 2`01^1_)*OHPSE2 *1^)9dSLC25A46 01^1_|5)< GH1 2`Z01_|5)4MAG 01^1_|5)"PLAMP21^)Q>CLPB2 Z*01^1_1gcn|5)3ڡRAB5IF01^1_)FITRAF7 2`)+ /01^1_)5+VAX1 201^1_)']FBXO43 Z|5)M}MEN12` Z*01^1_1g|5)BvSTAT3 2 Z*+ 1^1_1g|5)SLC24A4)6فSCYL2 01^1_|5)6YzTRAK1 01^1_|5)ZDNMBP)5NEK1 01^1_)!\AGPS)YAPOC3&NR3C22Z|5)DTSPEAR) C1R *1g)$"EEDZ1^|5)%ING1)BFANCG 2` *+ 01^1_27SNIP101^1_))$ARHGAP29 *1^1gN*_SRCAP2 Z*01^1_1g|5) GNAL1^)E[bADNP 2` Z*01^1_|5)EǨTRAPPC12 Z01^1_cn|5)4#ARHGEF201^1_)=dCOG4  *01^1_)SARDH1^# CYP1B1Z|5)"TRAF6 *1g8>WRN 2Z01_|5).)MYO9A *1^1_); COL5A1  *01^1_1g)0 IGH2 *1_1g%)LBX1Z|5),AGT01_)=PLP1  Z*01^1_|5)KNFE2L2 Z*+ 01^1_1g|5)"ANKS6Z|5)1ALX101^1_) mPICALM )4'AVP 2`01^1_)gSERPINH1)=g-COG7  *01^1_)1!SPIB2 *+ 1^1g5AKT2 2 Z1^|5):MOCS1 01^1_|5)9UPB1 Z01^1_|5)BdNIPBL 2 *01^1_1g);!,PRSS12 Z01^1_|5)8DMD  Z1^1_|5)&(SYCP2 Z|5)B!DCHS1 2Z01^1_|5)E';TOM1 2 Z*+ 01_1g|5)GNOTCH3 2 Z+ 01^1_|5)CTCF7L2 2 Z01^1_|5)9]RFC1  Z01^1_|5)&DNAH8 Z|5)ISUOX Z*01^1_1g|5):GLMBR1 Z01^1_|5)38 ZC3H1401^1_) FLT3 )*PTPN12 Z|5);%SNCAIP  Z01^1_|5)OpNDUFS22Z)+ 01^1_cn|5)BPRDX1  Z01^1_|5)=jTTPA 2Z01^1_|5)* bATXN801^1_)H^DCC2`Z)/01^1_|5)-FARHGAP24 *1^1g*RLBP121^)E,NSD2 2 Z*01^1_1g|5))SORD1^1_)0SLC34A12+ 1^)2DKIF12 Z*1g|5)2\REV3L2 *1^1_1g|5"[YNCSTN *1g)I GLUL Z*01^1_cn|5)* PRSS12 *1g)@$MICOS13 Z01^1_|5)GȠMBTPS2  Z*01^1_1g|5)JFGFR3 Z*01^1_1g|5)GeSETBP1 2 Z*01^1_1g|5)=PIGP 2Z01^1_|5)"IMPA11^)+¿SCAPER21^)-?SBF2Z1^1_|5)=)MAPT  Z01^1_|5)/&RIPOR2 Z1^|5)G%ZMINPP1 2 Z*01^1_|5)JSOX102` Z)/01^1_|5)?ZVPS13A  01^1_|5)8TBP  Z01^1_|5)!MYL4 Z|5)%CARTPT)gZP2)"ROTOGLZ|5)4CRELD1Z|5)$;`SLC44A4 Z|5)&"RASA22 1^1vTFE32 *1^1g)$aMMP20)5SVBP 201^1_)?MTHFD1  *+ 1^1_1g)?MRPS34 01^1_cn|5);RAB27A  Z*+ 1^|5)> VLDLR Z01^1_|5)$SLC17A9 Z|5)(LPL *1g)-wARF101^1_)CEIF2B1 2Z01^1_|5)E FUT8 2 Z01^1_|5)FCYB5A 2`Z01^1_|5);APOL41^)8GLDN)2&MAGI2 *1^1g)!TBX51^)NKWLMNB22 Z*01^1_1g|5)-CD81 *+ 1g)N"BCL102 Z*+ 1^1_1g|5)=SOX4 2 *01^1_1g)+#MSEMA5A01^1_KnNDUFC2 Z*+ 01^1_|5)-EKLC2Z1^1_|5)O$~SNAP292 Z*01^1_1g|5)*BEST121^):PRKCD 2 *+ 1^1g)=CDK5RAP2 Z01^1_|5)H NDUFB11 2Z+ 01^1_cn|5)J"HERC22` Z*01^1_|5)6JNTNG2 201^1_)8ZTMEM218 Z01^1_|5))$DSG1 *1g)׮P3H2)2hINTS801^1_)) IL4R *+ 1g)5` TSR2  01^1_)) BNC2 *1^1g)P HFE2 Z*+ 01^1_|5)-I2COQ501^1_)$HCEACAM6 *+ PAX9Z|5):UFSP2 Z01^1_|5)GjNDUFB8 Z)01^1_cn|5)")CNPY31^):(TUBB3 Z)01^1_|5)7rSLC2A2 2 Z1^|5). -HYAL1 Z*1g|5)LǟNDUFAF12Z+ 01^1_cn|5) SP71^)1;LNPK01^1_)F IRGM *1g1dCBY12`01^1_ANGPT1)BRARS2 Z01^1_cn|5)BFXDNAL1  Z*01^1_1g|5)\NKCNE51^2\TNUP6201^1_)6LTBP1  Z*1^1g|5)4*6SDCCAG82 *1^1g)C!DNAH11  Z*01^1_1g|5)&KIF221^1_)$HAND2 PLA2G2A)( GPI 1^)1wCRKL *01^1_)*YFTCD 1^),!OGT01^1_)9FJAM3 Z01^1_|5)%"CCN61^)uCHRNB21^)1$TCN2 *+ 1^)&"MTMR21^1_),;RD301^1_)>KIF11  *01^1_1g)8lDDC Z1^1_cn|5)7PCDH19 Z01^1_|5)6KORAI1  *1^1g|5)?KCASP10 2 Z*+ 1^1g|5):FOXC2 2 *1^1_1g)H^DTNBP1)2QACTN4 *1^1g|5)6!pDEGS1 01^1_|5)%eCHD5Z1^|5)LDAPC2` Z*01^1_1g|5)%gbCCNQ1^1_)9)TBR1 2Z01^1_|5)"޲CABP41^)"ޯACKR3Z|5)7UQCRC2 01^1_)N 0IARS12 Z*01^1_1g|5)$DYNLT2BZ|5))pSTRAC Z*|5)("&TNFSF12 *+ 1gFYEXTL3  *+ 01^1_1g)OySTAT5B2` *+ 01^1_1g)2[COBSL1Z01_|5)@[RET 2 *01^1_1g|5)QBRAF2` Z)*01^1_1g|5) HGF)#+CEP2501^)B:ACTA1  Z*1^1_1g|5)4 GP9  Z*1^|5)9"IMPDZ Z01^1_|5)5FCSK Z01^1_|5)9TTSHB 2`01^1_)>Z7KIF1B 2 Z01^1_|5)=ESRP1)#FAM20A2)B[ITGA3  Z*01_|5)" ABCC1 Z|5)GեPERCC1) RAD54L) *mSLC26A1)BeAUTS2  Z*01^1_1g|5)2<GDAP1Z1^1_|5)0VDR2Z1^|5)HUNDP2 Z)*01^1_|5)93CTSC  *01_1g)%JDTMEM185A+ 1^:KCNH1  Z01^1_|5):ATXN2  Z01^1_|5)]AKT12` Z)*+ /01^1_1g|5)SLC22A18)IMGJC2 Z*01^1_1g|5)2[XRCC101^1_|5)]}FAM83H)5~JAM2 )01^1_)3[NCAPD301^1_)B9RARMC9 2`Z01^1_|5)D bCFI  Z*01^1_1g|5)wBFSP1)DCXR:HNF1A 2 Z*1^|5)* GNAI301^1_)V&RTEL12 Z*+ 01^1_1g|5)8F"OH19-ICR 2`01^1_)6CIDEC 2 Z*1g|5)!^6TPRN1^):PRTN3 2` *1^1_1g)DRD5 Z1^|5)"ږKLHL91^1_.'gCERT101^1_)3NJPOLR1D2 1^1_),ATP5F1E+ 1^)6!PTCH2 201^1_)'TSHZ11^))&\CUL701_)EVLHX3 2`)/01^1_):[RBM28 2`01^1_)L HSD17B42` Z01^1_|5)$UBB *1^1g$$NOGZ1^|5)FMYH11  Z*01^1_1g|5)2 CBLIF Z1^|5)!UCP221^#;PKD1L1Z|5);;BCORL1 2Z01^1_|5).MEGF8 Z1^|5)SEPTIN12)-ڨFGD4Z1^1_|5)>\OSGEP  *01^1_)2EPB42 *1^1g)" _USP9Y Z|5)ZFHX3)B IL6ST 2 Z*+ 1^1g|5)(TYRZ1^|5)IRAC12 Z*01^1_1g|5)( HPD21^)FKBP51^%F`MFRP1^)%TIE1 Z|5)AJAK3  Z*+ 1_1g|5):TCF12 2Z01^1_|5)6NFKB1  Z*+ 1g|5)(HSLITRK61^)+&,TMEM94Z1^|5)"YCLCA4 *+ G GTF2E2  *+ 01^1_1g)+ BSAMD12 Z1^|5)=TBX6  Z*01_|5)pF11)BERBB3 2 *01^1_)8:IYD 2`01^1_)4CFAP251)+TREH),6ATP13A3Z1^|5)6ZDDHD2 01^1_|5)M8CFTR2` Z*+ 01_1g|5).uMDFIC Z*|5)8ALDH6A1 01^1_):+AP4S1 Z01^1_|5)rOPCML):$MED23 Z01^1_|5) NRIP1)HTMEM270 2 )*01^1_1g|5>KCNJ5 2 Z01^1_|5)YRIMS11^).CADM3 Z1^1_|5)7 GABRG2 Z01^1_|5)9 ]GCSH 01^1_|5)ERAB33B)ABMP4 2` *01^1_1g)'mTFAP2BZ1^|5)+b6LRSAM11^1_|5)?S NUTM2B-AS1  Z01^1_|5). EOMES *01_ATLR3  *01^1_cn)GVPSMD12 2 Z*01^1_1g|5)>[ TNFRSF13B  *+ 1_1g)Y'SLC25A132 Z*+ 01^1_1g|5):[GRIP1 01^1_|5)"RVHSFY1 Z|5)1[CUX2Z01^1_|5)9ALX3 2`01^1_)>KCOX15 + 01^1_cn)5 CLPP 201^1_)&WDR721^):AP3B2 Z01^1_|5)?œZNF526 2Z01^1_|5)B IGLL1  Z*+ 1_1g|5)1ɪDYNC2LI1 Z1^|5)ZKHDC3L) GUCA1A1^)==ETFB + 01^1_|5)AvSIL1 2Z01^1_|5):MDOCK7 Z01^1_|5).ǸSAR1BZ1^|5)9 IL7R 2 Z*+ 1g|5)9MMP2 2 Z*1^|5)#I:RNF1351^1_AMYL2  Z*1^1_1g|5)Kd TMEM672` Z01^1_|5)<_APP  Z01^1_|5)B H3-3B  Z*01^1_1g|5)6 HOXA2 Z01^1_|5)9ADSL Z01^1_|5),KLHDC8B *+ )"SGMS21^)FKMT2D 2 Z*01^1_1g|5)2"TAPT101_)1CDK601^1_)4_NEB Z+ 1^1_|5)<`METTL23 Z01^1_|5)7)CLDN16  Z*1^|5):* KDM5B Z01^1_|5)(bTEK *1g)%TAP1 *1g)7 xHNRNPU Z01^1_|5)2ABCA1 1^1_)6UUPF3B Z01^1_|5)+LZNF407Z1^|5)3ZeANKLE201^1_)EgTBL2 2 )*01^1_1g|5>~NSDHL 2Z01^1_|5)AUSHID1 2`Z01^1_|5)>!NRCAM  Z01^1_|5)ATPI1  Z*01^1_|5)<STS 2 Z01^1_|5)8INSL3))joNFU1+ 1^);cMPIG6B ):YKDM4B 2Z01^1_|5)=MYH7  Z+ 1^1_|5)A,PNKP 2 Z01^1_|5)3C3  Z*1g|5)ZNTAB21^)KZ8IQSEC22 Z*01^1_1g|5)2'APOA52`01_))nPGK1Z1^|5)DALDH5A1  Z01^1_cn|5)$SLC52A11^)ASCD46  Z*01^1_|5)?$ACADSB Z01^1_|5)>(pWARS2 Z01^1_|5) FZD6|5)*LRIF1 Z*1g|57ZNUP160  *1^1g|5)RSLC39A5)1FECH Z*1g|5)q C1GALT1C1 *>>ETFDH + 01^1_|5)IISLX42` *+ 01^1_)7IMPDH2 201^1_cn@UDBH 2`Z01^1_|5)9xDDX6 2 *01^1_)$*1SEPTIN91^1_)ANAXE Z01^1_cn|5)DYaCCDC141 2`)/01^1_)5$ LRAT 201^1_)8@MAP3K20  Z*1^1g|5)\FLRT11^1_J8PANK2 Z*01^1_1g|5)1(iTRDN Z1^|5)')SEMA3C2 *1^)DHPSZ1^|5)'qCHRNA4Z1^|5)CTNND1)O"bSUCLG1 Z*+ 01^1_cn|5)O%SEMA3E2` Z*01^1_|5)$TRAPPC21^)\ CLDN14|5)1EVC2 01^1_)3)[TXNRD22 *1^)6;ACTA2 Z01^1_|5)<WNT9B:ޥCOQ8A 01^1_cn)3ɱOTUD6B01^1_);>LMAN2L Z01^1_|5)Q GNAS2` Z*01^1_1g|5)YCPN1) CLRN2):MRTFA  *+ 1_1g),ZCCHC8)2SNRPB01^1_|5)ATRAPPC2L Z01^1_|5)/sSLC2A301^1_B9`NUBPL 2+ 01^1_cn)8!ACD  *01^1_)CRYGD)6 OGRID2 Z01^1_|5)QHRNASEH2C2 *01^1_1gcn|5) #yPRY Z|5)hZP3)2eNEPRO *1^1_):jITGB3 Z01^1_|5),9MIR17HG01^1_>RPL11  *01^1_1g)>LIPT2 Z01^1_|5)4)NSF 01^1_|5)"%TGATA5Z|5)JWDR35 Z*01^1_1g|5):ֺTTC12  *01^1_1g)6HLAMB1 01^1_|5)?`NDUFA9 + 01^1_cn)3#SOHLH12`01_)/wSPRED1 01^1_)HZLBR2 Z*+ 1^1_1g|5)<HB3GALT6  *01^1_1g)!)PMVK Z|5)A+TLK2  Z*01^1_1g|5).GUBAP1Z1^1_|5)7BSLC5A7  Z*1^1_|5)$bLCTZ|5)@'APCDD1)0 CACNA1E01^1_)3CTNNA201^1_);WDR45B Z01^1_|5)SERPINB8),?AMN *1^)N7ARMC52` Z*01^1_1g|5)& H4C11Z1^|5)- bGDF201^1_)=SOD1  Z01^1_|5)ALOX5 *)/GATAD1 Z|5)>)STAG3 2` Z01_|5)GPET117  Z*+ 1^1_cn|5)4%%ADAMTS2 *1^1g)7+ERLIN2 01^1_|5)BTNNI3  Z*01_|5)CתATAD3A 2Z01^1_|5)"PADI3Z|5)AUFD1 2 *+ 01^1_1g:FBXW7  *01^1_1g)-<COQ6Z1^|5)) G6PD Z|5)9)%ATG7 Z01^1_|5)Pe;NDUFAF32Z)+ 01^1_cn|5)J+POLG22 Z+ 01^1_|5)&EPHB21_)MJAK2 Z*01^1_1g|5)5[CPOX  Z1^|5)(kRGR21^)*GRHL3 *1^1g)=SERPINA1  Z*+ 1g|5)4fTMEM127201^1_)9k5PCLO Z01^1_|5):[AP4E1 Z01^1_|5)!#}CDY1 Z|5)07TM4SF2001^1_)ױTMLHE1^)GSPATA5  Z*01^1_|5):fpFBXL3 Z01^1_|5)4SLC45A101^1_)& GNRHR21^)6pELAC2 01^1_)NHS1^)Z.EXPH5)6 GLRA1  Z*1^1g|5)'TREC114 Z|5)7SH3GL1 )- ?GPX401_)FSCN5A  Z01^1_|5)8MPL  01^1_|5)MTBCE2` Z*01^1_|5)ADAMTS18)@#SLC33A1 Z01^1_|5)? 7LRRC32  *01^1_1g)9JGPT2 Z01^1_|5)24SPTA1 *1^1g)=8APTX  Z01^1_|5):ODARS1 Z01^1_|5);JNKX6-2 Z01^1_|5)J!PDE8B2` *01^1_1g|5)9FBBS1 2 Z*1^|5)*PINK1Z1^|5)CUKANSL1 2` *01^1_1g))dCTSA 1^)-PAK2 *1^1_)OPNPLA22 Z*01^1_1g|5)%COMP1^1_)9TRNK 201^1_cn);@SREBF1 2 Z*1^1g|5)BFDDX59  Z*01^1_|5)*PCBD121^)6cTHOC2 2`01^1_)FSIP2)*jREEP621^)*PDE6HZ1^|5)70POLR3H 2`01^1_&/KRT81Z1^|5)pCRH1^DEN1  Z*01^1_1g|5)1SCHD3Z01^1_|5): LSM11 Z01^1_|5)1\PISD01^1_)7eJPTPN23 201^1_)bCHMP4B)> MRE11 2+ 01^1_|5)"KCNN3 1^):׌LINS1 Z01^1_|5)>TBL1X 2`Z01^1_|5)9.RBL2 Z01^1_|5)+>FIP1L1 *1^1gBfHIBCH Z+ 01^1_|5)=PRNP  Z01^1_|5)=1WNT3 2 Z01_|5)!PRY2 Z|5)ECLN3  Z+ 01^1_|5)26CDC732 *1^1g)/PLA2G7 *+ 1g)'MAPK1001^1_5STX3  Z*1^|5)9gOGDH Z01^1_|5)/vMAP3K12`01_)CZATP11A 2 Z01^1_|5)1ǼRLIM201^1_)!CTSB *1g)JSNRPN2` Z*01^1_|5)*ZSYNE2Z1^|5) CFD *)"PTPN2 *1g:'MYO7A Z01^1_|5)EInCOA8 Z+ 01^1_cn|5)6u0TNPO2 Z01^1_|5)G'LRPPRC Z+ 01^1_cn|5)%RARB 1^)A<ACTB  Z*01^1_|5)<[SLC35A3 Z01^1_|5)*V\KCTD12 *1g)4ERCC6L2 01_).TRPS2301^1_)%KHSCB Z|5).MCTP2201^1_; SDHAF1 Z01^1_|5)7}EEF1A2 Z01^1_|5).)NPRL201^1_)!STK4 *)29PSMB101^1_)'MPZL2)IZSETX Z*+ 01^1_|5)% GDF51^|5)/ CLTCL1 *1^1_1gBVPS11  Z01^1_|5)6#MYO1E  *1^1g|5).[SUZ1201^1_)3"PHOX2BZ1^1_|5)EPAX2  Z*01^1_1g|5)jAQP5Z|5)%YASTL Z|5)9)CIB2 Z01^1_|5)6"GPAA1 Z01^1_|5)!PAX71^).DDX41 Z*1g|5)ISDHC2 Z*01^1_1g|5)/COL1A2Z1^|5)A$PLAA 2Z01^1_|5)fADAM10)ZBRCA12` Z*+ 01^1_1g|5);TANGO2 201^1_)<kCFAP298  *01^1_1g)NTMCO12` Z*01^1_1g|5)0 IL7 *1_1g)ECLN6  Z+ 01^1_|5)] zBAP12` Z)*+ /01^1_1g|5)1BSND2Z1^|5))EGFR *1g)+MTNR1B2 Z|5)BVARS1  Z*01^1_|5)1*EDAR Z*1g|5)9OTX2 2`01^1_)!bSERPINA6),QH19 1^1_)8 tHNRNPH2 Z01^1_|5)6 RPL26  01^1_)7*SPINK5  *+ 1^1g)?COL4A1  Z01^1_|5)}oSYNE4)D>UNC93B1  *01^1_cn)HKREMEN1)FTOP3A  Z*01^1_|5):ROBO1 2`01^1_|5: IL12B  Z*1^1g|5). KGRIA201^1_)\CASP14)667CYBC1  *1_1g)=SEXT1  Z*01^1_|5)N!STX11 Z*+ 01^1_1g|5)HND42 *+ 01^1_1gcn)15PDYN01^1_|5)1IGPHF6201^1_)% vGGT11^)AMYH6  Z*01_1g|5)[KIAA0825)E' SCO2 Z)01^1_cn|5)/&SEC24D01^1_)<cFAS 2 *+ 1^1_1g)&YTECRL Z|5)=VMSH4 2` Z01_|5)PNLIP)!vSTRCZ|5)=DNASE1L3  *1^1_1g).ICASP8 *+ 1g)=KPPP1R15B 201^1_)"GLAMA5Z|5)2SYT1401^1_|5)%UNEK8 Z|5)RHOAZ|5>HMGA2 2 *01^1_)C>GLYCTK Z01^1_cn|5)A HRAS 2 Z01^1_|5)EMGFM1 Z+ 01^1_cn|5).ٹVPS3501^1_)GIPOU1F1 2`Z01^1_|5)RORB1^))sBDNF01^1_vGIPC3):("STAG1 Z01^1_|5)5RCHD2 Z01^1_|5)CCL11 *)JiG6PC32 Z*01^1_1g|5)HWAS2 Z*+ 01^1_1g|5)+TBXAS1 *1^)<CCDC88C  Z01^1_|5)SNUNC13D Z*+ 01^1_1g|5)OPDE11A2` Z*01^1_1g|5)_CFAP91).AGTR101_)H/SLC35C1  *+ 01^1_1g)2(%UBE4B2 01^1_1 eGDF92`01_)1&WDR1 *1^1g)ZPPIP5K2)>KRT25)9CDC6 Z01^1_|5):"oBANF1 2Z01_|5);&MRPL12 + 01^1_)>SCN4A 2 Z*1^1_|5)>u.BICRA 2 *01^1_)<MTUBGCP6 Z01^1_|5))ݙRETN2 Z|5)PDE1C)9&MFN2 Z01^1_|5)1KNL101^1_)5=RBP3 2 Z1^|5)HjQRICH2)3EEXOSC101^1_)!"SRGS91^)[TDRD7)=FPEX6 201^1_|5)%[HEY201_2KCNE1 Z1^|5)"$CDY2A Z|5)1MSX1 Z*1^1g|5)LMX1A)5FAT2  Z01^1_|5)SMAGEL22` Z)*/01^1_|5)%XBBS521^)ICOX22 *+ 01^1_1gcn)?GEMIN4 Z01^1_|5) HAL1^>CIITA  *+ 1^1_1g).NPRL301^1_),)IGF2BP22 Z|5)=PUS7 2Z01^1_|5)I MTOR Z*+ 01^1_|5)1;AFF301^1_|5)C"EIF2B3 2Z01^1_|5)Bq0ACAD9 Z+ 01^1_|5)?ZUPNLDC1 2` Z01_|5)ANO6)9JHES7  *01^1_)A RGCGR 2 Z*1_1g|5)<j]TUBGCP4 Z01^1_|5)CiF5  Z*01_1g|5)&2WNT5AZ1^|5)R%6MPDU12` Z*01^1_1g|5)!TGM3Z|5)5tPGM1 2 *1^1g)>EPAS1 2 Z01^1_|5)%NPR31^)3uUBQLN2 Z1^1_|5).KAOPEP Z1^|5)$BLOC1S51^)I TMEM126A) +TNC).KCNH2 Z1^|5)\CHI3L11^)@mPTH 2Z01^1_|5)6/RNPC3 2`01_)I\PIGN Z*01^1_1g|5)#FAM50A1^)AAGXT  Z*01^1_|5)D9RNF113A  *+ 01^1_1g)/TUBA1A01^1_)JAARS1 Z*01^1_1g|5)(7BCKDK1^$SLC9A3R1)6@LARS1 01^1_)'GDF11Z|5)CD36)%MCPA12 *1g;7B3GLCT 2`01^1_)BANR4A2  Z01^1_cn|5)M'AASS Z*01^1_1gcn|5)CB6TICAM1  *01^1_cn)GTGFBR1  Z*01^1_1g|5)?JGTPBP3 )+ 01^1_)N.POLA12` Z*01^1_1g|5)AHPOMK Z)01^1_|5)/YRCNKSR201^1_)EJMYPN  Z*01^1_|5)gCHIC2 )8IZTMEM107  01^1_)JATP7A2 Z*01^1_1g|5)I ;GAS12` )*/01^1_1g, FLG Z*1g|5)1DNM2Z1^1_|5)/1KLHL401^1_|5)9 dCOLQ  Z*1^1_|5)*4WNT7A1_)&NHLH22Z|5)EMID1 2 Z*01^1_1g|5);PRUNE1 Z01^1_|5)&SFXN41^)8٘CCDC88A 01^1_)=KRT1  Z*+ 1^1g|5)C$IADGRG1 2`Z01^1_|5)ITPP2 Z*+ 01^1_1g|5)BiFOXP1 2 Z*1^1_1g|5)%"SGCEZ1^|5)-"OXR101^1_)7PRDM12  Z*1^1g|5)QLMNA2 Z*+ 01^1_1g|5)-_SLC25A211^1_)CbDNAAF3  Z*01^1_1g|5)*KCEP1921^)ICOX32 *+ 01^1_1gcn)S(MAD2L22` Z*+ 01^1_|5)KF^GPR1012` Z*01^1_1g|5)5EGR2 Z1^1_|5)C/INPP5E 2` 01^1_)UQCRB)5CD3E  Z*+ 1g|5)"$RAB281^)'CEP126 1^1_1CST301^1_|5)/2NANOS12`01_)#^ATP11CZ|5)JHBRIP12` *+ 01^1_)BCOX20 Z+ 01^1_cn|5)mMYOCD)V\XRCC22` Z*+ 01^1_|5)7$KL 201^1_)@;CARMIL2  Z*+ 1^1g|5)ADRB3)"FITM21^)IMMCM42` *+ 01^1_)2vLUZP12 01^1_+[mDICER121^1_)I eGRM72` *01^1_|5)]PFKM):CENPJ Z01^1_|5) PLA2G4A)"$NRXN11^)&+SEC63 Z|5)dRAD54B)HBTD Z*01^1_1g|5) 1FOS21^5 GM2A 01^1_)JSURF1Z)+ 01^1_cn|5)1aMDM22 01_)30]STING1 Z*+ 1g|5)9>CDT1 Z01^1_|5)AMTRR  Z01^1_|5)NUDT15)HND12 *+ 01^1_1gcn)5!mTCAP  Z1^|5)11CFL2Z1^1_|5)?q6FLVCR1  Z*1^1_1g|5)YDANKRD26 )" GNAT21^)RERCC82 Z*+ 01^1_1g|5)=TBX2 2` *01^1_1g)&iFOXD32 *1g)!+HPS5Z|5)=99TTI2  Z01^1_|5)6KCNA2 Z01^1_|5)9SERPINE1 Z01_|5)jCPAMD8)"fKLHL32)9UGP2  *01^1_)<CELA2A2)'=UNC45BZ1^|5)5+ LIAS 01^1_)I(GPHN Z*01^1_1g|5)ICOX12 *+ 01^1_1gcn)&8< KIAA0319L *1^9 MSH6 2`01^1_|5)K'PDGFRB2` Z01^1_|5);DHCR24  01^1_)2"PROM12Z1^|5)-KRT9 *+ 1^);CAPN15 Z01^1_|5)EPS8L2).'KCNE2 Z1^|5)2NIPA101^1_|5)6"AP1S2 Z01^1_|5) YHMMR).ATXN701^1_)<GPOR 2`01^1_|5)%iINVS1^)! EPS8Z|5)KFANCD22` *+ 01^1_)>MAPK1  *01^1_1g);ՂUGT1A1 Z01^1_|5)!KLF112)6CNNM2 01^1_)"LTBP21^)KTIMM8A Z*+ 01^1_1g|5)ZIQCE) dGRM6);G'RSPH4A  *01^1_1g)KPIK3CD Z*+ 01^1_1g|5)FDPS),GANGPTL601^1_2FGF14Z01^1_|5)?ZHTNRC6B 2 *01^1_1g)/ǪZDHHC901^1_)&J\GNPTG1^)LqNDUFAF42Z+ 01^1_cn|5);H[ADGRV1 Z01^1_|5)/PRKAG2 Z1^|5)=MITF  Z01^1_|5)GTGFBR2 2` *01^1_1g|5)-TCHD4201^1_)Kf0IFT1722 Z*01^1_1g|5) HRG)9PAK1 Z01^1_|5)%:BAATZ|5)5>YTGM6  Z01^1_|5)BqSETD2 2 *01^1_1g)>HPEX10 201^1_|5)- AFF201^1_)IPKD22` Z*01_1g|5)./MAT1A1^1_)3+CORO1A Z*1^|5)>&ARNT2 2`01^1_)7DNAAF6  *01^1_1g)%SUN5)=]CPS1 Z01^1_|5),[DNAJC1301^1_, WSNORA31 *1_)5 FLT4  Z*1^1g|5):GPIDD1 Z01^1_|5)H7fTBL1XR1  Z*01^1_1g|5)8"ALDH1A2  Z*1_|5)%PCHD8Z1^|5)6YJCILK1 201^1_)7 GABRB1 Z01^1_|5)#SLC24A1)JFANCC2` *+ 01^1_)(SAG21^)FNOP10 2 *01^1_1g)CUCAVIN1 2 Z*+ 1^1g|5)BzCHRNG 2Z01^1_|5)JKRT14 Z*+ 01^1_1g|5)=Y}FAN1 2`01^1_|5),gCFAP41821^)2 HADHB2Z1^|5)KHK.KCOX141_cn)27ROGDI01^1_)=tALG6 2Z01^1_|5)DCPLANE1 2` )01^1_)?SPATA7 2Z01^1_|5)FSMAD4 2 Z01^1_|5)EYDPF2 2 Z*01^1_1g|5)* PRSS22 *1g)JUTDGF12` )*/01^1_1g"KPNA31^1_+NSTARD7 Z1^|5)7`OTULIN  Z*+ 1g|5)IUBA1 Z*01^1_1g|5)!ANK21^).HECW201^1_)@VCP  Z+ 01^1_|5)1qUFM101^1_)IkDDB22 *+ 01^1_1g)#%PDGFRL *1g):,RBBP8 Z01^1_|5)9FAM149B1 )01^1_);VPS37A Z01^1_|5)EBAX )1/WNT101^1_)>GACTG1  Z01^1_|5)%TAP2 *1g):"ACADM + 01^1_)DBARD1)BTRMT5  Z+ 01^1_|5)qAK7)AURKA)RERCC52 Z*+ 01^1_1g|5),HFAM161A21^)'VNKX2-62 )) HIC101^1_)@MC4R21^)4SLC12A12Z1^|5)-UPIGW1^1_)CNHLRC1  *01^1_1g|5)F9PSPG11  Z)01^1_|5)),BCTRC2 *1g)=tTUFM Z01^1_|5)1lANKH Z1^1_|5)McNHP22 Z*01^1_1g|5)+&/EIF4A3Z1^|5)0 IGHMBP21^1_|5):iDNAI1  *01^1_1g)BTACR3 2`)/01^1_))FCCM201^1_): GLUD2  Z01^1_|5)/ GABRA501^1_)TMEM132E)M7"USB12 Z*01^1_1g|5)[CYP4V2)J7pPALB22` *+ 01^1_)<NEUROD2 2Z01^1_|5)!)GNB51^). PDCD1 Z1^1_|5<TBC1D23  *01^1_)9 &MNX1  Z*1^1_1g|5):HqNSRP1 Z01^1_|5)6)CERS1 Z01^1_|5)"BMPR2 Z|5)BtMEIS2  Z*01^1_1g|5) IGFALS2% ^HMX11_),SLC22A5+ 1^)3ΝANTXR22 Z*|5)EPHA2)29~CEP6301^1_)1J#MCM82`01_)C%SEC24C 2 *+ 01^1_1g1TUBA3D))P3H1Z1^|5)1UMPS *+ 1^)%ABL1 1^)GeATPAF2 Z+ 01^1_cn|5) IGFBP7)5PCNA 01^1_|5)tUBIAD1)-)IVNS1ABP *+ 1g)6PRR12 Z01^1_|5)&STRA6 1^)7 HIVEP2 Z01^1_|5)<DYNC1I2 Z01^1_|5)A IGF1 2Z01^1_|5)I FLNA Z*+ 01^1_1g|5)&\&PDSS11^)FSTIM1  Z*01^1_|5)$SLC26A32)(%TMEM63A1^1_)5VSLC25A26Z+ 1^|5)HpLEP2` *+ 01^1_1g)1DMPK201^1_))CCL201_)"պCNGB31^)EFEMP11^)@MAB21L1  *01^1_1g)%ADAMTSL41^)GKCNJ11 2` Z01^1_|5)*ǿIRAK4 *+ )HLJNDUFA13 Z+ 01^1_cn|5)!BPGM ),ATP5MC3 Z1^|5)ITBX12 *+ 01^1_1g)7(CITED2  *01_1g)q5IFT81)* CXCR2 Z*|5)&EFHC1Z1^|5)*\7CD2AP *1^1gERELN  Z01^1_|5)& !NLRP7 Z|5)C7 *)'!DNAH17 Z|5)=!fMAPKAPK5 Z01^1_|5)Q|EPG52 Z*+ 01^1_1g|5)>YVPS16  Z)01^1_|5)/%`GABBR201^1_)QPOU4F11^)&JMECOM 1^)+ MICAL1 Z1^|5)MYC *&$GRHPR *)jRBMX1^)DLX3 )%CSTA *1g)9j*IL37  Z*1^1g|5).KCNC101^1_|5)E+}KPTN  Z*01^1_1g|5)+GCLDN192 *)B"SGPL1 2 01^1_|5)TPMT)@"CACNA1G  *01^1_1g|5)>YCNOT1 2Z01^1_|5)9}TFRC  *+ 1_1g)F%CEP57 2` *01^1_)-FKIAA154921^)6/KRT74  Z*+ 1g|5)&iBBBIP121^)4I]CCDC115 Z1^|5)1lKLLN2 *01^1_=TRAPPC14 Z01^1_|5)+NT5E)"،CIROPZ|5)MATP6V0A1 Z*01^1_1g|5)L JDNAJC212` *01^1_1g)-SNCB01^1_)M[RPGRIP1L2` Z01^1_|5)58ROR2  Z*1^1g|5).jmAHDC101^1_)+COL9A1Z1^|5):(kABCA7  Z01^1_|5)=SLC25A10 + 01^1_)6FOXJ1  *01^1_1g)I GLB1 Z*01^1_1g|5).LIMS2Z1^|5) MAOA1^)C0CAMK2B  Z*01^1_1g|5);9HSD3B7  Z*1^1g|5)&KRT10 *1g)M%jCDC42BPB2` Z*01^1_1g|5):7TUSC3 Z01^1_|5)ZFLG2)9PCTU2 Z01^1_|5)C"EIF2B5 2Z01^1_|5)'pCHRNA3 *)FޠKIF15  Z*01^1_1g|5)=uMRM2 + 01^1_|5)BABCD4  Z01^1_|5)-AGRN *1^1_)3)uERLIN101^1_|5):@ASCC1 Z01^1_|5)2CLRN12Z1^|5)@_#DYNC2I2  *01^1_)Q\APOE2 Z*01^1_1g|5)"MZFHX21^);(TUBB4A  Z01^1_|5)3Z}NUP205 *1^1g)6PLOD1  *1^1_1g)> NLAGE3  *01^1_1g)CMCCDC65  Z*01^1_1g|5)"CNTN21^)"KCNA5 Z|5))#SELENBP1 Z|5)JgESCO22` + 01^1_|5)2iITGB2 Z*1g|5):PLIN1 2 Z01_|5)ATTLR7  Z*1^1_1g|5)BDNAH5  Z*01^1_1g|5)RERCC22 Z*+ 01^1_1g|5)5ASNS 01^1_|5)2 MGRIA4201^1_)JNGLY1 Z*01^1_cn|5)9TGM1  Z*1^1g|5)2vTTC1901^1_)?KSERAC1  *01^1_):SRC)8DYM  *01^1_)1ZEYA1201^1_)MLTWNK2 Z)+ 01^1_|5)aCBFB )=FPUS3 Z01^1_|5) xGSR)LOXHD1).ǾCEP8301^1_).KIF2A01^1_)PVIPAS392 Z*01^1_1g|5)5ZrNCDN Z01^1_|5):ǶNAA20 Z01^1_|5)AIvCOG8  *01^1_1g)GTTC29)> KIDINS220 Z01^1_|5)ANO31^);5'MBOAT7 Z01^1_|5);SLC6A9 Z01^1_|5)=JPIGO Z01^1_|5)?CAST)2'dPQBP101^1_|5)1۶MRAP2 *1^)BFACTC1  Z*01_1g|5)*4BACH2 *+ 1g)<!:CNTNAP1 Z01^1_|5)9TNXB 2 *01^1_)-UBTF01^1_):PDE2A Z01^1_|5)FBUD23 2 )*01^1_1g|5&BBS1221^)3@DPYSL5201^1_)9HARL6 2 Z*1^|5)6?|NUAK2 Z01_|5))IFT57)BTGFB3  Z*01^1_1g|5)>WRPS26  Z01^1_|5)!YuARSG1^)?gVPS13B 2` 01^1_)3գCYP2R12Z1^|5),4COLEC111^1_)!IGNAS-AS12)KZKATNIP2` Z*01^1_|5)-%DSG2 Z|5)ATCF3  Z*+ 1_1g|5)E RAG2 2 Z*+ 1_1g|5)9SOST 2 Z1^1_|5)(VCL Z|5)@ԿRETREG1  Z*1^1_1g|5)1NOD2 *1^1_1g)gELP4Z|5)A"TDLK1 2 *01^1_1g|5;eSCUBE3 Z01^1_|5)3ECLEC7A *1^1g)پTPH21^))SOS22 1^)ELGI3  Z*01^1_1g|5)HAGA Z*01^1_1g|5).PLCB401^1_)ESPG7  Z+ 01^1_|5)1 MKKS2Z1^|5)Q7FAT42 Z*+ 01^1_1g|5)E HBA1  Z*01^1_1g|5)"FGF23 ):#AP4M1 Z01^1_|5).pMEF2C01^1_)MST1R)9CRBN Z01^1_|5)LMVK Z*+ 01^1_1g|5)&KITLGZ|5):*~CFHR3  Z*1^|5). UQCC3Z1^|5)VHCDH232` Z*01^1_1g|5)45RPS6KA301^1_|5)8 ATP6V1A 01^1_)#YY1AP11^)! GNB31^)9 DPH2 Z01^1_|5))P4HB01^1_)+EHSF2BP)5ٵHHAT 01^1_)MCTNS2 Z+ 01^1_|5)\I5DNAJC302 Z)*+ 01^1_1g|5)=@PEPD  Z*+ 1^1g|5)A7MYRDC 2Z01^1_|5)2TCF20201^1_) EPOR1^:%SKIC3 2 *+ 1^1g)950FA2H Z01^1_|5)!DMP1 ) ɤSCGB3A2 *)%CA12Z|5)F!nCDK10  Z*01^1_1g|5)`SMARCE12` Z)*+ /01^1_1g|5)USDHB2 Z*+ 01^1_1g|5)S"NUP1072` Z*01^1_1g|5)9HAMP 2 Z1^|5). gTRRAP01^1_)#"MBTPS11^)&lREEP21^|5)@CFAP410  Z*1^1_1g|5)A(ZMPSTE24 2Z01^1_|5))SLC25A38Z|5). IGSF12`01_)CTNNA1)3MRPS14Z+ 1^|5)%ATIC1^)+CLCNKA2Z1^|5 HOXC13)2 DIP2B Z*1^1g|5)9#NEMF Z01^1_|5)!RMYMXZ|5)9xADD3 Z01^1_|5)'&RPL10L Z|5)һA4GALT) HTR2A1^)FSOX11 2 Z*01^1_1g|5)$SLC25A3+ )Y[STIL2` Z)*/01^1_1g|5)QNCASR2 Z*01^1_1g|5)CFAP70)+CTNND201^1_R/ENPP12 Z*01^1_1g|5)5AHSG 201^1_)ACACA)"ZPLCB11^)LTK2 Z*+ 01^1_1g|5)TRIM44)8eCNTNAP2 201^1_)/\PNPLA1 Z*1g|5).SCN4B Z1^|5)+CACNB4 Z1^|5)ODNMT3B Z*+ 01^1_1g|5);pADAM22 Z01^1_|5)6o"FOXP2 Z01^1_|5)E"ATRX 2 Z*01^1_|5)7(YRXYLT1 01^1_)Hg&NDUFAF2 2+ 01^1_cn|5)F7TCTN2 2` Z01^1_|5)(dSLC30A2 *1g)FALMS1 2` *01^1_1g)+4CARD14 Z*1g|5)>MSIAH1  Z*01^1_1g|5)RNF6 Nm NOTCH2NLC Z*01^1_1g|5)1mLDLR01^1_)ATIA1  Z01^1_|5)FMGAT2 2 *+ 01^1_)#CLEC3B Z|5)=RAF1 2 Z1^1_|5)#%NUP155Z|5)CMAP3K7 2 Z*01^1_1g|5)*POP1)egKANK2)28SPDZD701^1_)7{TWIST1  Z01^1_|5)KMCM2|5)1SOS12 Z1^|5)!8wSTN11^)1ZTNIK01^1_)#ZNF141Z|5)$TSLC24A51^)> VGRIN1 2Z01^1_|5)#ZEXOC6B1^)!ACAN1^)'TRIM28 6 HADHA 2Z+ 1^|5)JDCDC2 Z*01^1_1g|5)9fTTC5 Z01^1_|5)<KIT  *01^1_1g)>ZPMPCA Z01^1_|5).PALS1201^1_4IRF2BPL01^1_|5)RICCDC50)&VMA211^|5)#uPHF21A21^)6FDFT1 01^1_):[BICD2 Z01^1_|5)1LRP42Z1^1_|5)"iKCNK91^1_)*KLKB1 Z|5);PCDH15 Z01^1_|5)EjcCOQ2 2 Z01^1_|5)/IFT122 Z*|5)7ICARD11  Z*+ 1g|5)D)EBP  Z*01^1_1g|5)SRGAP12)$LYZ *1g) HSF4),FAH2 1^)2AMPD201^1_))UMSH321_)=MTTP 2 *1^1_1g)OSTXBP2 Z*+ 01^1_1g|5)0ޗPOGLUT1 *1g|5):ZGSPART Z01^1_|5)>rLETM1 2 *01^1_1g)+FCGR2B *1^1g)6(NDRG1 Z+ 1^1_|5)N&MED122` Z*01^1_1g|5)KIRF1)%|TFR22 )BGRSPH3  Z*01^1_1g|5)6]SMOC1 01^1_|5):&}RUSC2 Z01^1_|5)-LIPC2 Z|5)mMEF2A)/pTUBB2A01^1_)^ERCC62` Z*+ 01^1_1gcn|5)(ռSLC6A201^):KCNJ6  *01^1_1g)V_PTCH12` Z)*/01^1_1g|5)J?MED25 Z*01^1_1g|5)2qCASZ12 01^1_F CISD2 2 *+ 01^1_)SYN11^)<zWAC  Z*01^1_|5)$ECEL1)& rGFRA1Z|5)%THBD Z|5)O PLA2G6 Z*01^1_1g|5)%eTOR1AIP1|5))TPM1 Z|5).SPARC01^1_)= GOT2  *01^1_)*ABCD3 Z|5)*iCLIP101^1_HDUX4.*AVPR22Z1^|5)/NUTUBB2B01^1_)IRPGR2 Z*01^1_1g|5)=[BRD4 2 *01^1_1gALPIGY  Z*1^1_1g|5)-"GBF1 Z1^1_|5)IFITM5Z|5)/"SPINK12 *1g)+KSPPL2A *+ )5^MDH1 01^1_):FGF13 2Z01^1_|5)G" RNU7-1 2 *01^1_1g)ETAF1  Z*01^1_1g|5)CEBPA )-*SGCAZ1^|5)!TMPRSS15)AZVPOGZ  Z*01^1_|5)#SLC6A6Z|5):CDKL5 2Z01^1_|5)EY COG2 2`Z01^1_|5)*CNGA3Z1^|5)-@DAB101^1_|5)QgADAR2 Z*01^1_1gcn|5)?NOTCH2 2 *01^1_1g)M9)CTC12 Z*01^1_1g|5))CD40 *+ )GCDYRK1A 2` Z*01^1_|5)9C18ORF32 Z1^1_|5),:CYP27B121^)= IGKC 2 *+ 1_1g)<!RNASET2 Z01^1_|5)82CYP26C1  01^1_)kPRDM6)' GALNT3Z|5)>oADCY5 2Z01^1_|5);?~RNF170  Z01^1_|5)5DPYS 01^1_)H6TMEM231 2` Z01^1_|5)FTACO1 Z+ 01^1_cn|5)3iZBTB1101^1_)2eWIPI201^1_)4VKORC1)2KCNJ12Z1^|5)*#AICDA *+ ):SPAG1  *01^1_1g)*KCNK181^)% MYF61^1_|558UBA5 01^1_|5)3>AKR1D1 Z*1g|5)9'*PIGK Z01^1_|5)4NIN 201^1_)>tSNX10  *01^1_1g):_ITGA7  Z*1^1g|5)7JKISS1R 2`01^1_)6$MED17 01^1_|5)&iUQCRQ1^)WNK42)ASB10)?DNASE2 2 Z*1^1g|5)5]CUBN  Z*1^|5)<ABHD16A Z01^1_|5)xaADGRE2)7<COX6B1 01^1_cn):SARS1 Z01^1_|5):dSHOC2  *01^1_1g) GAB1)3,LEXOSC801^1_)`PAK91^1_6ŷIL21R  Z*+ 1g|5)"AMPD11^)E)RAI1 2 *+ 01^1_1g)9ATP6V1E1 01^1_)TLR2 )MARL32` Z*01^1_|5)' VHMGCS21^)<eANKRD17 2 *01^1_)E]CRB2  Z*01^1_1g|5)/KCNJ1301^1_)9J(GON7 Z01^1_|5)>WDR19  Z*1^1g|5)ISHOX)3KCKAP2L01^1_)ǎTNNI3K)FւFOCAD 2 Z*1^1_1g|5)@!TNFSF11  *01^1_1g)0tSEC61A1 *1^|5).(SF3B401^1_)Y2POLE2` Z*+ 01^1_1g|5):שSETD5 Z)01^1_|5); COL6A1  Z*1^1_|5)5 H1-4 Z01^1_|5)CRYBB3)*PDE6A21^)%`PFN11^1_)8COL17A1  Z*1^1g|5)=MYLK  *01_|5).DKDM3B01^1_)"lCCNK1^)))KLF12 Z|5)*!CALM1Z1^|5):ODAD3  *01^1_1g) חNADSYN1|5)#COL8A21^))MYL1Z1^|5)*[ SIN3B01^1_>Y+PUF60 2`Z01^1_|5)"2KCNV21^);SLC6A8 Z01^1_|5)CRY11^)$,B4GALT71^)*>NIPA201^1_!7ROR1Z|5)6MS4A1  Z*+ 1g|5)NATP7B2 Z*01^1_1g|5)"7ESRRBZ|5)F۴BTNL2 2 Z*1^1_1g|5)6KCNN2 Z01^1_|5)7&FRMPD4 Z01^1_|5)-(IRX52Z1^|5):YPLCH1 Z01^1_|5)APCNT 2 *01^1_)KNUP133 Z*01^1_1g|5)6[yMLYCD 01^1_)AKXIAP  Z*+ 1^1_1g|5)O56GNPTAB Z*+ 01^1_1g|5)6يPACS1  *01^1_);qCCDC22 2 *01^1_|5)$KSLC26A9 *+ 8YTFASTKD2 01^1_)&^TPRPF621^)5 GHSR 2`01_)YP2RX2)=fRFT1 Z01^1_|5)ӽCYCS)0ALDH1A3Z1_|5);PC Z01^1_|5)WGRXCR1)/[]MED13L Z*1^|5):'CENPF  Z01_|5):vDDX3X 2Z01^1_|5)!-PPM1D1^)1TRNE2+ 01^1_+MTWIST2Z1^|5)& AMHR22Z|5)!PKP2 Z|5)7qMRPS28 01^1_)"FXYD21^)>tNLRC4  Z*+ 1_1g|5)-ELF4 Z*1g|5)H^METTL27 2 )*01^1_1g|5N'LABCC9 Z*01^1_1g|5)EjDDB1 2 Z*01^1_1g|5),MPI2 Z|5)BkITGB4  Z*1^1_1g|5)=SLC30A10  01^1_)8CAD Z01^1_|5)5%[H6PD 2 Z*1g|5)<NECTIN1 2 Z*1^1g|5)?"_PEX11B 201^1_|5)*#@BRSK201^1_FABCD1 2` *01^1_|5)3SLC9A101^1_|5)?MAP2K1 2 01^1_|5)!!DSC3Z|5)EXPIGG  Z*01^1_1g|5)-MYH9 Z*1g|5):SLC38A8)*FIRAK1 *1^1g)$GCM221^)N(TUBB8)3&IQSEC101^1_)0[NNT2 *1^)2"TDRD92`01_)-FDX22 1^)'mTUBA4A1^1_)*QRSL12+ |5)gMYOF)JSTX1A2 )*+ 01^1_1g|51MMAB Z1^|5)5OCHAT  Z*1^1_|5)6 IGHG2 2 *+ 1_1g= GLE1 Z01^1_|5);)ySTAMBP Z01^1_|5)ACTSD Z+ 01^1_|5)^WNT3A1^b)TBL1Y)2 IL2RA2 *+ 1g)5 OGCDH 01^1_))vRYR2 Z1^|5)6&6MATR3  Z1^1_|5)5CD3G  Z*+ 1g|5)25MMEL12 *+ 1^1g3[lEXOSC2201^1_)%(IRF9 *1g)< IL12RB1 2 *+ 1^1g)B GNA11 2 *01^1_1g) IL31RA) GPRASP2Z|5)E~SIX6 2`Z)01^1_|5)=eTKFC  *01^1_1g)= HBA2  *01^1_1g)2ZJNFASC01^1_)2wSTAT4 *1^1_1gBRMND1 Z01^1_cn|5).qWDPCP21^1_)2YMAST1Z01^1_|5)I[PSPH Z*01^1_1g|5);8DCAF17 2`01^1_)YWNLGN11^)(fBLOC1S6 *1g)MԵRIN22 Z*01^1_1g|5).\*ATOH7 Z*1g|5)GWNDUFA2 Z+ 01^1_cn|5)H HBB2` *01^1_1g|5)BZHYLS1 2` 01^1_|5)6 IKBKB  Z*+ 1g|5)2IFT8001_)V@PSMB82` Z*+ 01^1_1g|5)I%aGTF2IRD1 2 )*01^1_1g|50)ZMAB21L22Z1^|5)"REWSR1 1_NeVSIN3A2` Z*01^1_1g|5) e&PLEKHG41^1_P0CYP11B12 Z*01^1_1g|5)E7SLC25A22 2 *01^1_|5)4)HSLC34A2 Z1^|5)"TAF151^1_8lTTR  Z01^1_|5)+TGFBR301^1_:ZMYT1L 2Z01^1_|5)A'ALG3 2 *01^1_)5ABAT 01^1_|5)"+cPRDM51^)( yGSS 1^)(~MSN *+ 1g)"eTENM41^|5)@&TMEM237 2` 01^1_)AzHIRA 2 *+ 01^1_1g;ZCAMTA1 Z01^1_|5)/ERMARD01^1_)D NCKAP1L  Z*+ 1_1g|5)R GP1BB2 Z*+ 01^1_1g|5)%>RBP4 *1g):CD79A  *+ 1_1g)9 GLDC 01^1_|5)PRICKLE3)FCARD9  Z*+ 1_1g|5)>|SPG21  Z01^1_|5)$MIF *+ 1gH _IDS Z*01^1_1g|5)*CES1)-!NDGKE *1g|5)F8PWAR1 2` Z*01^1_|5)!|PDLIM4)76POLR2A  *01^1_)%FBN2Z1^|5)4 FUS + 01^1_)U FMR12` Z*+ 01^1_1g|5)FFGFR2  Z*01^1_1g|5)NC2CD6 Z|5C"SQSTM1 2+ 01^1_|5)2AP1G101^1_):>NUDT2 Z01^1_|5) NFKBIL1 *1ADH52 01^1_>vMYORG  Z01^1_|5)/TALDO1 *1^)7ANAPC1 2 *1^1g)LVNDUFAF82Z+ 01^1_cn|5)-ZEB1 *1^1g)UCP3)CvNDUFS6 2+ 01^1_cn)zTRPV31^)8 UGCK 2 Z1^1_|5).FPLVAP2 *+ )C$RECQL4 2 *01^1_)BwSTT3A  Z01^1_|5)3JMYO18B01^1_)$C1S2 *1g)NNFKB22` Z*+ 01^1_1g|5)(GEYS21^)4"ST3GAL501^1_)EFC19ORF12  Z01^1_|5)J HSPG22 Z*01^1_|5);!ABCB11 2 Z*1^|5)6PCGF2  *01^1_)2euPARS201^1_)O,GTF2H5 Z*+ 01^1_1g|5)*ljMRPS72Z|5)1FBP101^1_)(LOX01_)Q)IPO82 Z*+ 01^1_1g|5)9#BUB3 2 *01^1_O:VPS33A Z*+ 01^1_1g|5):CLCN2 201^1_)3'BCAP3101^1_)=PRKN  Z01^1_|5)FMTFMT Z+ 01^1_cn|5)5SYT1 Z01^1_|5)6DOCK6  01^1_)*DOCK2 Z*|5)N!bAP3B1 Z*+ 01^1_1g|5)5 DPP6 Z01^1_|5)MUTYH)M TCF42 Z*+ 01^1_1g|5)JZGANAB2` Z*01_1g|5)KRT71Z|5)- FRG1Z1^1_|5)&!DGAT1Z|5)2MIEF2Z+ 1^|5)?$nZNHIT3  *01^1_)/ADAM17 *+ 1g)L$EIF2AK32 Z*01^1_|5)>ZEXOC7 Z)01^1_|5)-%MAPK8IP12 Z|5)"Z5TTLL51^)E7TMEM126B 2+ 01^1_cn)&#tCLDN1 *1g).AP1S1Z1^|5)>(PIKZF1  Z*+ 1^1g|5)qF12)8XPNPEP3  *1^1_1g)= GNAQ  *01^1_1g)7lTFAP2A 2 01^1_)JqUBE2T2` *+ 01^1_)CEXOSC9  Z*01^1_|5)# GK21^)L)?SLC35A1 Z*01^1_1g|5),4CYP19A12Z|5)>tSTAT1 2 *01_1g)7nCHRNA1  Z1^1_|5)KǍMLXIPL2 )*01^1_1g|5)C&CEP104 2`Z01^1_|5)A"DFADD  *01^1_|5)<ALOX12B  Z*1^1g|5)%$uTGM5 *1g)#YUNC13A1^1_CTSEN15  Z*01^1_|5)$EPO2Z|5)-!MNS1 Z*1g|5)9xITPA Z01^1_|5)-CLTC01^1_)1FGD12`01^1_)*FGF10 *1^1g)1DLST201^1_)KRT6B)ITRNQ2 *+ 01^1_1gcn)2(ERAP1 *1^1_1g;SEMA4A 2`01^1_):jRRP7A Z01^1_|5)(!MLX *1^1g)uRHAG *+ |5)0CYP26B1Z1_|5)'7CAMKMT2+ 1^@1CYP11B2 2Z01^1_|5)<-RIPPLY2  *01^1_)DHODH):HACE1 201^1_)CևDNAAF5  Z*01^1_1g|5)ETOCA2 2` *01^1_). 9GARS1 Z1^1_|5)ApOPA1 2Z01^1_|5)9'vTSFM + 01^1_|5)=[[SIK3  *01^1_1g)>$mTRIP4 2 Z*1^1_|5)5pST14  Z*1^1g|5)(iEIF2AK1Z1^|5)' FKBP101^)!TMC1Z|5)FPRKDC  Z*01^1_1g|5)77 SH3TC2 Z01^1_|5)!eNSMF21^)`7FRMD7Z|5)>SCN1A  Z01^1_|5).TBX1501_))GBBS221^)57]COLGALT101^1_)=ATP6 2+ 01^1_cn)&PHKA1 Z|5)/JRNF21301^1_)CRYBA2)5TDP1 01^1_)7cF2  Z01_|5)?u8EFEMP2  *01^1_1g)A$TRIO  Z*01^1_|5);YTRIM32 2 Z1^1_|5)B&HDAC4  Z*01^1_1g|5)>ORPS19  Z01^1_|5)!uSLC22A12)C6 *)0 GHR2Z1^|5)-FHL1 Z1^|5)2&PDE6B2Z1^|5)PCK2)1EML101^1_)"MMP131^)EPAX6  Z*01^1_1g|5)@CSNK2A1  *+ 01^1_)FISRP54 2` *01^1_1g),dACE01_)7PIK3CG  Z*+ 1g|5)<ARHGDIA  Z*1^1g|5)%bMDM42 *1g) КGRXCR2)<'PDCD6IP Z01^1_|5)'ZNF687 Z|5)I&{KIAA0753 2`Z)01^1_|5)LBTK2` Z*+ 01^1_1g|5)DQSLC13A3 Z01^1_cn|5)9CD27  *+ 1_1g)7[PIK3R5 01^1_|5)&mMTPAP1^|5)"߃MSRB3Z|5)1#USF32 *01^1_4 GUCY1A101^1_)&)PDHA2 Z|5).^LFTSJ1Z1^1_|5)*SRSF2 *1^1g!QDAZ1 Z|5):ZZMIZ1 2Z01^1_|5)8EHJV 2 Z1^|5),KPRTN4IP1Z1^|5)"CABP2Z|5)_CFAP47) BFSP2)5LDHD 01^1_)PLS3)9ZMLC1 Z01^1_|5);OTOA)CSH2D1A  Z*+ 1^1_1g|5)+IKERA)6dFASLG 2 *+ 1^1g)6PDSS2 01^1_) wRHD *|5>ARID2 2 *01^1_1g);eABHD12  Z01^1_|5)C֝RNF125 2 *01^1_1g)JSMPD12 Z*01^1_|5)25LACC1 Z*1g|5)*FLAMA4 Z|5)&qBRWD3Z1^|5)>$ITM2B  Z01^1_|5)5RPL5  01^1_): HSPD1 Z01^1_|5)*'AKAP9Z1^|5)+">RAB11A01^1_%ZFTA01^1_B#CTDP1 2Z01^1_|5)FtNLRP3 2 Z*1^1_1g|5)/$RAB11B01^1_)![LCAT )7fNLRP12  Z*1^1g|5)L;TMEM2162` Z)01^1_|5)5PPT1 01^1_)+,SCN11A *1^)E$COG1  Z*01^1_|5)20NAT8L01^1_); CSGALNACT1 01^1_)K`NSMCE32 *+ 01^1_1g)!9MBL2 *1g) CYSLTR2 *1gTBXA2R)6V9LAMA1 01^1_)I[SH3PXD2B  Z*01^1_1g|5)ARR3)ALK1_'SRA12)<ƞDHH 2`Z01^1_|5)1 lGDNF2 *1^1_)CDHTKD1  Z01^1_|5)EYA4 *)1$VAPB Z1^1_|5)ITRNF2 *+ 01^1_1gcn)TdTIMMDC12 Z*+ 01^1_cn|5)9q DCPS Z01^1_|5) IGF2R *1gTSMARCB12` )*+ /01^1_1g)(DIABLO|5)BHNF1B 2 Z01^1_|5)*PROS101_)2\RUNX2 *1^1_1g),>DUT2 Z|5)>TAF4B 2` Z01_|5)(CRTAP|5)6-NELFA  *01^1_1g,\LCK Z*1g|5)<-HIKESHI Z01^1_|5)' HOXA13 *1g|5)B_RREB1 2 *+ 01^1_1g<DCLRE1C 2 Z*+ 1g|5)>rTMTC3 Z01^1_|5)DǓSEPSECS  Z*01^1_|5);)YME1L1 Z01^1_|5)"SERPINB7)%DLG1 *1^1gPRKACBZ|5)9x]VSX1  Z01^1_|5)&ADRB2 *)A FLNC  Z*01^1_|5)=TRNT  Z01^1_|5)<CYP4F22  Z*1^1g|5)=CTSK 2` 01^1_)CCOL1A1  Z*+ 01^1_|5)=PAX8 2`Z01^1_|5)/ATP2A1Z1^|5)BABCG8  Z01^1_|5)B`RSPH9  Z*01^1_1g|5)>JPEX13 201^1_|5)A hHNMT  Z*01^1_|5)fERAL1)5eWNK1 2Z1^1_|5)7 ZGRIN2D Z01^1_|5)>rF13A1  Z*01_1g|5)$TMPRSS3Z|5);/CAMK2A Z01^1_|5)7PPP2CA Z01^1_|5)%X*ARSKZ|5)5PKP1  Z*1^1g|5)9oTDP2  01^1_)6VAMP2 Z01^1_|5)JFANCE2` *+ 01^1_)'RBM121^)()EARFGEF1Z1^|5)@VHL 2 Z01^1_|5):(MICU1  01^1_)E YIDH1 2` *01^1_1g)HHPOMGNT1 2Z)01^1_|5)SPOU4F3)B GALK1 2 *01^1_)LSLC35A22` Z*01^1_|5)A#SMC3 2 *01^1_1g)*(CALM3Z1^|5)! ANK31^)!THRA21^):'[HUWE1 2Z01^1_|5)9ARG1 Z01^1_|5)UTP532` Z*+ 01^1_1g|5)ROBO2)5+UADAMTS1301^1_)J?CCBE12 *+ 01^1_1g)9"ZPR1  01^1_)>xFNIP1  Z*+ 1^1g|5)!MMP9Z|5)"'LPAR6Z|5) C1QTNF51^)> LGRIA3  Z*01^1_|5)=PHEX 2 Z01^1_|5)%C1QA *1g)+(SEC23AZ1^|5)RgBSCL22 Z*01^1_1g|5)<SLC25A32)#KCNJ162)QCNBP2` Z*+ 01^1_|5)=PNCF2  Z*1_1g|5):LTC4S 01^1_|5).+NACC101^1_)"fNPHP41^)3BCL11B Z*1^1g|5)7SCN10A  Z*1^|5)&)bPRPF821^)CEACAM16)*>VCFHR5 *1g|5)HMMP21 )LFOXRED12Z+ 01^1_cn|5)2 GNAO1201^1_):IL12A 2 *+ 1^1_1g5PROC Z01^1_|5)FGF5)TSMO2` )*+ /01^1_|5):%ISG15  *01^1_)'KaATP5MK1^|5)CALCR)#ىYEATS21^|5),DTMEM63CZ1^|5)" GNAI2 Z|5)K* SNORD115-1 2` Z*01^1_|5)SFRP4).EFNB101^1_).KCNC2Z1^1_|5)&OSBPL2).%bGOSR2Z1^|5)7CFAP69)0aPHACTR101^1_)6PRRX1 Z01_|5)5NONO 2`01^1_)AEPEX1 2Z01^1_|5)2HRURFZ|5)4!ALDH4A11^1_cn)3ATP2B3Z01^1_|5)13PPP1R12A01^1_)7SCNN1B 2 Z*1g|5)QKRAS2` Z*+ 01^1_|5)88(PYROXD1  Z*1^|5)?'KIF20A  Z*01_|5)I"KYNU Z*01^1_1g|5)*>NUMA1 *1^1g4-XSLC34A32Z1^|5)HND62 *+ 01^1_1gcn)GLCP2 Z)01^1_|5)2 dHNF4A2 Z1^|5)$cqCREB3L1Z|5)4CFAP221 *01^1_1g=SLC25A20 + 01^1_)CNOT21^)NsMYSM1 Z*+ 01^1_1g|5)JPTCD3 )*+ 01^1_1g)9oGCNA 2` Z01_|5):PCSK1 2`01^1_)F8BICC1 2` Z*01_1g|5)5!IRS4 2`Z01_|5)%OMCM6 Z|5)=vPGM3  *+ 1^1_1g)"INAVA *1g)=uF13B  Z*01_1g|5)8SMARCD2  Z*1^1g|5)E"rDPM2  Z*01^1_|5)1_SIX1201^1_)nAKR1C2)B?SPRY4 2`)/01^1_); XGRIN2B 2Z01^1_|5)74INPPL1  Z*1^|5)>VPS51  *01^1_)%MTAP *1g|5)CTYROBP  Z01^1_|5)N BGATA42` Z*01^1_1g|5)J!EIKBKG Z*+ 01^1_1g|5)CSTXBP1  Z*01^1_1g|5)+PRKCSH Z|5)-'AKT301^1_)3&NCAPD201^1_)SERPINB6)OfVPS33B2 Z*01^1_1g|5)U)'RNASEH2A2 Z*01^1_1gcn|5)@hYY1 2` *01^1_).YKDM1A01^1_)<\WDNAAF11  *01^1_1g):ZSLFN14)2KCNT101^1_|5)B&EARS2 Z+ 01^1_|5)2[vZFPM22`01^1_)KLHL24Z|5)KRNHLRC2 Z*+ 01^1_|5) YMAPKBP1|5)5zqNAGS 01^1_)gRS1)TyTBC1D242 Z*01^1_1g|5)*CNGB121^)?9DNAJC5  Z+ 01^1_|5)06SLC52A21^1_|5)&#PRPF321^)PBLM2 Z*+ 01^1_1g|5)5ZEMC1 01^1_|5)K&qZBTB24 Z*+ 01^1_1g|5)=LIG1  Z*+ 1^1g|5)-3%PRICKLE11^1_|5)CHCHD21^)9-SGCG  Z*1^1g|5)>HTRA1  Z01^1_|5)50SGSH  Z*1^|5)9MTM1  *01^1_1g)'ADGRG2)3\IL17RA *1^1g)+ZBTB16 *1^1g>ETRMT1 2Z01^1_|5)9هTRMU  Z*+ 1^|5)'iSLC1A11^)6wTULP1 201^1_)ESLC25A19 Z01^1_cn|5))?DSG4Z1^|5)5EEF2  Z01^1_|5)=(ECCNO  *01^1_1g|5)\MLLT10 ))AVIL)B)COX16 Z+ 01^1_|5)*&9DHX3821^)"AGTR21^1_ CA421^3 GABRB3Z01^1_|5)6)KIF1C 01^1_|5)>CTBP1 2 *01^1_1g)KCNMB1)+ ~IFNAR1 Z*|5)/5TTMEM43 Z1^|5)"&YKEAP121_VFANCF2` Z*+ 01^1_1g|5)S&IFT1402` Z*01^1_1g|5).[DMPEG1 Z*1g|5)- !GAMTZ1^|5)< FN1 2 Z01^1_|5)2ǚIFT5201^1_)cOPN1SW1^)@ HK1  Z01^1_|5)4fLDLRAP101^1_)HLSS2 Z*01^1_1g|5)6ATXN1  Z01^1_|5)Z_KDM6B1^)1PRLR2`01_) PIKFYVE1^)BtGMPPA 2`Z01^1_|5):,/VPS45  Z*+ 1^|5)9ItGFM2 01^1_cn)ATPP1 Z+ 01^1_|5)6TBX20  *01_1g)7EGLN1)GqMRPS22 2`Z01^1_|5)$CTH1^)% GYS21^)-CD28 *+ 1^1g*WARS1Z1^1_|5)?)#PITRM1 Z01^1_|5);0DUOXA2 2`01^1_)3ATP2B1Z01^1_|5)?VNDUFA1 2+ 01^1_cn)&+ IFT2721^):MOCS2 01^1_|5)tSLC16A12): /USP9X 2 *01^1_)& HTR1A21^)A9DDR2  *01^1_1g)(>?TMEM1991^)ADRA2B1^= B4GALNT1 201^1_|5)1 GALT2 *1^)2""CRADD01^1_) AMELX)2FIL23R *1^1_1g=uRYR1  Z*1^1_1g|5)2!IMPG12 Z1^|5)6JRPS17  01^1_)A&oZEB2  *+ 01^1_1g)ITBCD Z*01^1_1g|5)=WWOX 2` 01^1_)fFGF20)-MYOC)%)CIB1 *1g)=tEDN3 2 *01^1_)+ HOXD1301_)"QPAM161^):"SYNJ1 01^1_|5)=iB9D1 2` 01^1_)6ASXL2 Z01^1_|5)1eWHRN01^1_)6RARS1 01^1_)E^RFC2 2 )*01^1_1g|5+$PDGFRA *1^1g) JDAO1^1_DMRT12&YIKZF3 *1g)&PLCB31^|5)! dMSTN1^)!FPON31^1_6#ACER3 01^1_|5)) BIRF8 *1g)-4ESR22`01_) <GPX1)?RNF216 2`01^1_)<FAM111A 2 01^1_)E3ESR1 2` *01^1_1g)RERCC32 Z*+ 01^1_1g|5)"8THSD4 Z|5)-5POLH *1^1g)B9-IFT74 2 Z01^1_|5)8DLD + 01^1_)@SMARCA4 2 *01^1_1g)R4RRM2B2` Z+ 01^1_cn|5)0iLAT *+ 1g|5)AGRP);CYP2U1 Z01^1_|5)#SPINK2)tCPSF1)+jATP10A01^1_6 RPL27  01^1_)JޘPSMG2 Z*01^1_1g|5)1_ACY101^1_)C& SETD1A 2 Z*01^1_|5)6TRPV4 Z01^1_|5)@TPO 2`Z01^1_|5)=BPTF 2 *01^1_1g)",MARK3Z|5)6wOPHN1 Z01^1_|5)=ALPL  *01^1_|5)'USP27X1^1_)B PSEN2  Z01^1_|5)2UBE3A01^1_)CYP2D6)<NGF  Z*1^1_1g|5)!TRNI1^)J DNAA102 Z*01^1_1g|5)<ND2 2+ 01^1_cn)-LIPE2 Z|5)>KCNA1 2Z01^1_|5):*GIPC1  Z*1^1g|5)2fTANC2201^1_)Bf{FBXL4  *+ 01^1_)GGPR1431^)6e<ACBD5 01^1_)2[NRROS01^1_)@CACNA1D 2Z01^1_|5)/SLC9A3 *+ 1g)j0DISC21^)APEX2 2 01^1_|5)1<MAFA2 Z1_|5):EPHB4  *01^1_1g)7(CACNG2 Z01^1_|5)1%ADAMTSL2 *1^1g)(PLN Z|5)""2ADAM91^)7ZNF462 Z01^1_|5)6v TNFRSF11BZ+ 1^|5)D]DBT  *01^1_1g|5)2 [IDH3A2Z1^|5)C~TG 2` *01^1_1g)F"EIF4H 2 )*01^1_1g|5:TREM2  )01^1_)2!RASA1 01^1_)HtPSMC3IP 2`Z01^1_|5)-PAK301^1_)2XACTN2 Z1^|5)6'DNAL4 201^1_)I FLI12 *01^1_1g|5)9[HAAO Z01^1_|5)JGCDCA7 Z*+ 01^1_|5)/@SLURP1 Z*1g|5) 7jGSCZ|5)2_TEX112`01_)/߆ERGIC1Z1^|5)% RALAZ1^|5)>KPEX14 201^1_|5)% HCRTZ1^|5)2RPL31 01^1_2!SOCS12 Z*1g|5);VCEP120 2`01^1_)Q`PTEN2 Z*+ 01^1_1g|5)B!STX16 2` *01^1_1g)+9WNT10AZ1^|5)5 _GRM1 Z01^1_|5);NCC2D1A Z01^1_|5);^ACVRL1  *01^1_) FZD21^)0'HNRNPDL Z1^|5).PCSK901^1_)CBPOLRMT  Z01^1_|5);MAN2C1 2)01^1_)9RAPOB Z01^1_|5)(EZR01^1_?KCNJ10 2Z01^1_|5)BNSUN3 Z+ 01^1_|5)YYDZIP1)SRAD51C2` Z*+ 01^1_|5)\WBP2)=`CHKB Z01^1_|5)!CCR6 *1^66FREM2 01^1_|5)* !HLA-A *1^1g؟ZBTB42)EbTYMP 2Z+ 01^1_|5)%*PPARGC1A1^1_AMuALG2 2Z01^1_|5)ETP73  Z*01^1_1g|5)VTRNS12 Z*+ 01^1_1gcn|5)FUBE2A  Z*01^1_1g|5)CRYGC1^).SNTA1 Z1^|5)21CLTRN *1^1_1g"KRT121^|5)6 MIR96)HPPP2R3C 2` Z01_|5)#LSIZ|5)K(HTCIRG1 Z*01^1_1g|5).\AIPL101^1_)HZNF644)&&TRPM71^1_) yAXIN2) GUCY2C)"PRKG2Z|5)& GNRH121^)#MYBPC11^)\"RIGI)+;COX6A2Z+ |5)RPI4KA2` Z*01^1_1g|5)<YPLEKHG2 Z01^1_|5)HڟNDUFA12 Z+ 01^1_cn|5)-+SGCBZ1^|5)!COA5Z|5)8DES  Z1^1_|5)$ HSD17B32)9GUF1 Z01^1_|5)'oCFAP58 Z|5)PPP2R1B))GALM *).qNR2F101^1_)M GLI22` )*/01^1_1g)%GRDH51^)PTPRF)TODAPH)gGREM12(GPNMB)FGF9),CD4 Z*1g|5)2CPT1C Z1^1_|5)SMAD9Z|5)"KCNK3 Z|5). GLUD12Z1^|5)N#TBX192` Z*01^1_1g|5)[SF3B1 *1gEPMFBP1)5PRPH  Z1^1_|5)JTRNS22 *+ 01^1_1gcn)%&NRTN2 *1^G$gTRIP13 2 *+ 01^1_)JՙP4HTM Z*01^1_1g|5)HALDH3A2  Z*01^1_1g|5)BDNAH9  Z*01^1_1g|5)Z4ARHGAP26 )=NOS3  Z01^1_|5)KELOVL4 Z*01^1_1g|5)APURA  Z*01^1_1g|5)9OALS2 Z01^1_|5)G7ZNF408 2 Z01^1_|5)6$'AIMP1 01^1_|5)Jq"OSTM1 Z*01^1_1g|5)"$NS1PR2Z|5)=#^NFS1 2 *+ 1^1g|5)7_rRSPRY1  01^1_)=%TBX4  *01^1_1g):7EHMT1 2 *01^1_)= FLII 2 *01^1_1g:(PIBF1 2`01^1_)FbLYRM7 Z+ 01^1_cn|5)1TNFRSF1A *1^1g)"CAPN5 *1g)&PATL2 Z|5)MqTBK1 Z*+ 01^1_cn|5))#LGI1 Z1^|5)iATP2C1)ҐMYO3A)MvMYLK2)M!!OFD12 Z)*01^1_1g|5)2[TEX142`01_)1PYGM Z1^|5)*#HSPB3 Z1^|5)/<FERMT1 *1^1g)/%NOS1APZ1^|5);PIEZO2 01^1_|5)*<CD10901^1_ KRT4)'8MRPL44Z|5)8CNP Z01^1_|5)E#USP8 2` *01^1_1g)@ATP6AP1  Z*+ 1^1_|5)5bEZH2 Z01^1_|5))SPINT2)N\0AMACR2 Z*01^1_1g|5)D SLC37A4 2 Z*1^1g|5)@9GFUZ 2 *01^1_1g)&RNU1201^1_1OIRF52 *+ 1^1g! MYH21^)5SBF1 01^1_|5)DsMFF Z)+ 01^1_|5)fCHRDL1)0zRHO2Z1^|5)-%9BAG5 Z|5)"EPB41 )CޫCCDC47  *01^1_1g)&dFSCN221^)A"OCLN  Z01^1_|5)IY=DOLK Z*01^1_1g|5)-#FIBP 1^1_)1+LDB3 Z1^|5)8)GPIHBP1  Z*1g|5)"CLCN61^)*PTPRQZ1^|5)? PCYT1A  *01^1_1g)&KCNN4 *+ )%hSQOR1^)6KCND3  Z01^1_|5)>?ISCA1 Z01^1_|5)U`SIX32` Z)*/01^1_1g|5)M 3HLA-DRB12 Z*+ 1^1_1g|5)>uLRP12  Z01^1_|5)3PTPN112 1^1_)70VPS13C 01^1_|5)>:TPRKB  *01^1_)`KRT6C)8AMT 01^1_|5)BCSF1R  Z01^1_|5) ZFYVE271^)&CD151 *1g)" GFI1BZ|5)-MIRF3 *1^1_)PESHH2` )*+ /01^1_1g)JSAMD92 Z*01^1_1g|5)"gCNNM41^)6+RPL35  01^1_)##RPS4Y2 Z|5)5AHCY 01^1_)D5NDUFAF5 2+ 01^1_cn)J"FOXH12` )*/01^1_1gCIL17RD 2`)/01^1_)KkNDUFB92Z+ 01^1_cn|5)=TBX3 2` Z01_|5):JDUOX2 2`01^1_)!MYL3Z|5)DMPO  Z01^1_|5)ITET2 Z*+ 01^1_1g|5)G/uCCDC39  Z*01^1_1g|5)WDR481^1_5PIGH 01^1_);CCDC40  *01^1_1g)9CYLD  Z01^1_|5)> 2KDM5C  Z*01^1_|5)7CDKN1A 2` 01^1_(VqSLC36A21^)hPGAM2)6RPL18  01^1_);%-SPTLC2  Z*1^1_1g|5)!DGATB2)LRPAP1)U^PPM1K)%FXR11^|5)/%DEPDC501^1_).PRKCG01^1_|5)5CDSN  Z*+ 1g|5)PRIMPOL)"NUTM1 1_<|SLC12A5 Z01^1_|5) IHH)CUUTSEN54  Z*01^1_|5)/CETP)5ŻDEF6  Z*+ 1g|5)-TSMARCAD1 Z*1g|5)/tCHRNB1Z1^1_|5)E GJB2 2 Z*01^1_1g|5)AiPNBEA  Z*01^1_1g|5)C%CHST14  Z*01^1_1g|5)),:TMC6 *1g)9)PLK4 Z01^1_|5)P`SGO1)RNR11^A)QNPC2  Z01^1_|5)"[ TNFRSF10B)GLMBRD1  Z*01^1_1g|5)!BMP11^)5FLCN 201^1_)(SDPY19L2 Z|5)=DPYD Z01^1_|5).FCHST6Z1^|5)* IGSF3 *1g)6(+CWC27 201^1_)2PITX1Z01_|5)2ڧKLHL72Z1^|5):ELAMA3  Z*1^1g|5)0IEVC 01^1_) ?HLA-G *)6FZMYM2 Z01^1_|5)*XAPOC2 *1g)IMLH12` Z01^1_|5);SLC5A5 2`01^1_)9NEFH  Z1^1_|5).+MRPL3Z1^|5)#sCLDN2)88cWLS Z01^1_|5)FKWDR73  Z*01^1_|5)3NT5C3A)EALG1 2 *01^1_|5)&CNTN11^|5)=PIRF6  Z*1^1_1g|5)#[CFAP53Z|5)OCLCNKB2 Z*01^1_1g|5):'cUSH1C Z01^1_|5)1 GYS101^1_)BrDDOST 2 Z*1^1_|5)8CACNA1A 01^1_|5):ّVAC14 01^1_|5)QmTBCK2` Z*01^1_1g|5),&AMMECR1Z1^|5)TBX22)GDNAJC3 2 Z01^1_|5)%KDF1 *1g)ƑTAS2R161^6$CHST3 Z01^1_|5)*pCSRP3 Z|5)7kSLC1A3 Z01^1_|5):VWDR62 Z01^1_|5)8sGATAD2B Z01^1_|5).'HDAC601^1_|5)JKDM6A2 Z*01^1_1g|5)DIO12)<ADK Z01^1_|5)=4SPATA5L1 Z01^1_|5)1HSLC7A6OS Z1^|5)S+xPOLR3A2` Z*01^1_1g|5):)AP4B1 Z01^1_|5)<DTMEM138 2`01^1_)@FGA  Z*01_1g|5)>9^TARS2 Z01^1_|5)FGCOX8A  *01^1_cn|5)MFBN12 Z*01^1_1g|5).FBLN101^1_)KRT161^)/AELOVL501^1_|5)*STK112 Z|5)ONKX2-12` Z*01^1_1g|5)0EIF2AK4 Z|5)&^CPT1A1^)A MYH3 2 *01^1_)-DCD55 *+ 1g)'EHHADHZ+ |5)*kCHRM3 *1^)RNASEL)99EDC3 Z01^1_|5)!IwHPS3Z|5)DFTRAPPC9 2Z01^1_|5)2 FOXE12 1^1_)AdRAB3GAP2 2 *01^1_)9MUC1  Z01_|5)?);AGPAT2 2 Z*1^1g|5)6~CCND2 Z01^1_|5)9GPEX7  01^1_)5 HCCS Z01^1_|5)9ORC4 Z01^1_|5)//KYZ1^1_|5){ABCB1 *1gsGPR179)@fSELENON  Z*1^1_1g|5)% hGDI11^1_)1wPHC101^1_)*SORL101^1_>PMP22  Z1^1_|5)QPTSC12` Z*+ 01^1_|5):-MARS1 2 Z1^1_|5)HS3ST6)A.GJB4 2 *01^1_1g)FTPNPT1 Z+ 01^1_cn|5):TRIT1 Z01^1_|5)BPTRH2 2Z01^1_|5)}ADH1B1^<ASL Z01^1_|5)OrNDUFS32 *+ 01^1_1gcn))#$NOL3 Z1^|5)99PUS1 201^1_). uACOX2Z1^|5)9 HEXB  Z1^1_|5)5ARSA 01^1_)B m HNRNPA2B1  *01^1_1g)MATP6V1B22 Z*01^1_1g|5)$SLC11A1 *+ 6%LPIN2 2 *1^1g)*JTUBB6Z1^1_|5)CACNB2)G7SPTBN1 2 *01^1_1gcn)6ABCA4 2 Z1^|5)>#ACADS Z01^1_|5),qLAMTOR2 *+ )1)PDPN2 01^1_SMAD61^)7$iTRIP11  Z*1^|5)2YUNC8001^1_)KָTMEM70 Z*+ 01^1_|5)7gIL36RN  Z*1g|5),KZFYVE19 Z|5):PHKG2 2 Z*1^|5)1TLR4 *1^1_1g2GITGA6 Z*1g|5):^RSPH1  *01^1_1g)<*SLC38A3 Z01^1_|5)NRAD212 Z*01^1_1g|5)?BMPR1B 2`Z01^1_|5)-RAC2 *+ 1g)JKDISP12` )*/01^1_1g7CDKN2B 2` 01^1_6YRAB18 201^1_) KRT31^)>,BCAS3 2Z01^1_|5)6HPORCN Z01^1_|5)CUNUP214  Z01^1_|5)LOXL1):AIMP2 Z01^1_|5)-%MYOT Z1^|5),$(TSPOAP11^1_cnZIFIH12 Z*+ 01^1_1gcn|5),GSLC4A11 Z|5)JǗTRNT1 Z*+ 01^1_|5)?3INPP5K 201^1_|5)E FSHR 2`Z01^1_|5)A SPI1 2 Z*+ 1_1g|5)4C12ORF401^1_)7TLE6)._TUBA801^1_)M HPGD2` Z*01^1_1g|5)_PIK3CA2` Z)*+ /01^1_1g|5)-CDK801^1_)QhADA22 Z*+ 01^1_1g|5)6QARS1 01^1_|5)1PIGC01^1_)>AEBP1 2 Z*1^1g|5))[ISCUZ+ |5)XXPNPEP23CYB5R301^1_)6SCN8A Z01^1_|5):)CORIN 2 Z*1^|5)JBRCA22` *+ 01^1_)uDMGDH) [GCNT2)=7 NDNF 2`)/01^1_).3NTRK201^1_)iANKRD1 6 JGRIA1 2 Z*1^|5)O$CYP7B1 Z*01^1_1g|5)FLIMK1 2 )*01^1_1g|56%TCOF1 2 Z1^1_|5)@gSLC17A5  01^1_|5)>#KRT18  Z*1^1g|5)^SMOC2) SLC11A2)JFANCA2` *+ 01^1_)ɘCATSPER1)7ENTPD1 201^1_)CTSH1^J ?GATA12 Z*01^1_1g|5)1RPA1 Z*+ |5)5KIF21A) GYPC $MOG21^)CRYAA)>ǧKMT5B  Z*01^1_1g|5)%!cFCN3 *1g)-(2SPEGZ1^1_|5)@ALDH7A1 Z01^1_|5)0ZRHOBTB201^1_)FEP300 2 Z*01^1_1g|5)G8HL2HGDH  Z*01^1_|5)# GABRA321^6@GLIS3 2 *1^1g)+#dPAPSS22 *1g)4PPP2R5D01^1_)9COA7 01^1_|5)1HFM12`01_)@CA2 2 + 01^1_)B8DUSP6 2`)/01^1_)$ CACNA1F1^).[CLCF11^1_|5)&#PRPF421^)RPFANCL2` Z*+ 01^1_|5)3)SEMA6B *01^1_)2KCNA401^1_):ISOX18  Z*1^1g|5)%&>BMS11^1_)KoAR2` Z*01^1_1g|5)bDCNZ|5)NADAT32` Z*01^1_1g|5);IMPDH1 2Z01^1_|5)TAL1 .HCEP78 Z1^|5)%DLG31^1_)F^XRCC4 2 *+ 01^1_)(DLC1)1TRNC201^1_) jANGPTL3)xIKZF5)/MTMR14Z1^1_|5)kADCY1)6ROBO3 Z01^1_|5)PBX11^)&JBIRC32 *1gH<SLC2A10  Z*01^1_1g|5)ACDH2  Z)01^1_|5)1kADAMTSL1201^1_: CFHR1  Z*1^|5)AGBL1)AASPA Z01^1_cn|5)R"X TNFRSF11A Z*+ 01^1_1g|5)3qMETTL501^1_)6[SATB2  *01^1_)6QISCA2 01^1_|5)<ZAGTPBP1 Z01^1_|5)QPARN2 Z*01^1_1g|5)< vGSN  Z*1^1_1g|5)GPRDM16 2 Z01^1_|5);1ATP8A2 Z01^1_|5)>[ETHE1 Z01^1_|5). MHMGB301^1_)1[&SZT201^1_); COL5A2  *01^1_1g))COA6Z+ |5)*VAMP72`01_4HDYNC2I101_)"ZPACS2 1^)2FOXG101^1_)LPP )$<CEACAM3 *+ F WIPF1 2 *+ 01^1_1g)/FKBP14Z1^|5)(0TMPRSS61^)-JMCEEZ1^|5)AMTNZ|5)Q1RNU4ATAC2 *+ 01^1_1g|5)NQO2)9 ZLIPN  Z*1^1g|5)4ATP5F1DZ+ 1^|5)-JPH301^1_)AsLFNG  Z*01^1_|5): #@CRPPA 01^1_|5)5"UFBP2 Z01^1_|5)9 GJA5  Z01^1_|5)MɔPIGT2 Z*+ 01^1_|5);JFGFRL1 2 *01^1_)CMMRPS16 Z+ 01^1_|5)GPR68)9MCM9 2`Z01_|5)/VACTL6A201^1_2 HABP22 Z1_|5)6RTN4R1^)CIBAR1)=ZLTOGARAM1 Z01^1_|5)4IZMYND152`01_)@}TBC1D20 2Z01^1_|5)>2NTRK1  Z*1^1_1g|5)!ZFAT2 *1gP#YAIP2` Z*01^1_1g|5)CCD40LG  Z*+ 1^1_1g|5)%C1QB *1g)"EPHA41^1_:j STK36  *01^1_1g)4KIRREL1 Z*1g|5)1JAG2 Z1^|5)CSPRED2 2 Z01^1_|5)1DHFR01^1_)JNPHP12` Z01^1_|5)&7YLRRK11^)>CDC42 2 *01^1_)F%mPREPL 2`Z+ 01^1_|5)GMAN2B1  *+ 01^1_1g)B&mGINS1  Z*01_1g|5)2%MYO5B Z1^|5)8oPOF1B2)*[NABP1 *1^1g5YSPEN 2 01^1_)5QNCF4  *1_1g) SLC22A4 *%{CHUKZ|5)IALDH18A1  *01^1_1g|5)B9MESP2  Z*01^1_|5)6=KCNT2 Z01^1_|5)F HELLS  Z*+ 01^1_|5)1 cDYSF Z1^|5).%IQCB101^1_)7 vHNRNPK 201^1_)<7B2M  *+ 1^1_1g). HSPB1 Z1^1_|5)6URPS24  01^1_)2!DHX1601^1_) xAXIN1 *1gBtGMPPB Z)01^1_|5)&!FOXN1 *1g)ULIG42 Z*+ 01^1_1g|5)05MAX201^1_)׽PANK4Z|5)%YDKK101^1_MVD)1HKAT8201^1_)M GJB32 Z*01^1_1g|5)ADVL31^)69CENPT 201^1_)"%KIF231^)(AHR21^)7BRPS15A  01^1_)(7CYP24A11^)F!FKBP6 2 )*01^1_1g|5REPCAM2` Z*01^1_1g|5)1ǭCOQ401^1_);GAS2L2  *01^1_1g):SMAD3  *01^1_1g) 0PRSS56)+'oARPC1B *1g)B[cLARS2 2`Z01^1_|5)1ӫNANS01^1_)$$ARHGEF61^1_DENG  Z*01^1_|5)N)DEAF12 Z*01^1_1g|5)8dCR2  *+ 1_1g)FMKRN3 2` Z*01^1_|5)7'TIL18BP 2 *1^1g))dCIZ101^1_9'DLL4  Z01^1_|5)%+/ZPBP Z|5):$CRLF1  *1^1_1g|5)=BDNAH2)$ (GGN Z|5)9$&CACNA2D2 Z01^1_|5)' \OPN1MWZ1^|5)-RAC301^1_)6ABCA2 01^1_);߀VANGL2 2` 01_)BGLRX5 2 + 01^1_)*SPAST1^1_|5)?PLXNA1 Z01^1_|5)"$AP1S3 *1g)$qRACGAP1Z|5)!CCN2 *1^/$EFTUD201^1_)MFAIRE2 Z*01^1_1g|5)' GUCA1B21^)'SLC51AZ|5)OASPRV1)NTGIF12` )*/01^1_1g)6BMPER 01^1_)F9hWDR26 2 Z*01^1_1g|5)+ZNF142Z1^|5)1LRBA2 *+ 1g)?(<KATNB1  Z01^1_|5)!AMBNZ|5)9VRK1 Z01^1_|5)5 LCA5 Z01^1_|5)6PKHD1  *1^1g|5)%mCACNA2D41^)3|PPP1CBZ01^1_|5)MqLEPR2` )*+ 01^1_).HCCDC801_),SLC19A1 Z|5):SNAI2 Z01^1_|5)JHCOX10 Z)01^1_cn|5)IٻNAXD Z*01^1_1g|5)7ZFBXO28  *01^1_)37FBXO3101^1_)(6SLC6A1721^)L9CYP27A12 Z+ 01^1_|5)"IFT8821^ZGPD1L)=|SHQ1 Z01^1_|5)5CD59 Z1^1_|5):ZSUMF1  01^1_))YWNT42 *1g)>dFBXO7  Z01^1_|5)TMPO =ARSL 2 *01^1_)>ATXN3  Z01^1_|5)#]ACVR2B Z|5)= )HLA-DPA1 2` *1^1_1g9DBR1  Z*1^1_|5)IRMRP2 Z*+ 1^1_1g|5)CCOL7A1 2 Z*+ 1^1g|5)77ANXA11  Z1^1_|5):JHYCC1 Z01^1_|5)PtSLC39A8 Z*+ 01^1_cn|5)CDNMT3A 2 Z01^1_|5).CLCN1 Z1^|5){SLC5A1)'gSEMA3D2 *1^9޹TRAPPC6B 01^1_|5)4&TNFSF152 *+ 1^1gJ"tHESX12`)/01^1_|5)9{PNPO 01^1_cn)) FLT12 *1^,BSLC30A82 Z|5)-?GDF601^1_)-NBCHE *1^))ŹATP6V0A4Z|5)2USH1G01^1_)% pGFI1 *1g)=PIGF 2Z01^1_|5)+NFKBIA Z*|5)9 >GAS8  *01^1_1g)2$GGPS1Z+ 1^|5) GNAT1)& HARS11^1_)&J*JAGN1 *1g)AհPDP1 Z+ 01^1_|5)F%PRORP 2 *01^1_1g):AARS2 01^1_|5)"PER21^)8Z>TBC1D2B Z01^1_|5)FTONSL 2 *+ 01^1_1g)1 SPOP201^1_)@ jHNRNPA1  Z01^1_|5)'POPDC31^)=PMS2 2`01^1_|5)4RP1 2 Z1^|5)B7sNARS2 Z01^1_cn|5)JAP1B1 Z*01^1_1g|5)9CLN5 + 01^1_)RٓIARS22` Z*01^1_1g|5)B' DGCR2 2 *+ 01^1_)%SDC3)EfjNEK9 2 *01^1_1g)'jTF2 *)# IFNGR2 *)?HANTXR1 2Z01^1_|5);SLC6A3 Z1^1_cn|5),KBTBD131^1_|5)SALL2)#<SRD5A22)&3DNHD1 Z|5)?DPAGT1 Z01^1_|5)TOP2A1_%C1QC *1g);[WASHC4 Z01^1_|5)DRD41^)' SFTPA2 *+ )##FCGR2C01_.YdWDR3701^1_)CPOLR3K 2Z01^1_|5)=׍SMG8  *01^1_1g)+GLMN)M!SLC25A12 Z*01^1_1g|5)5 uGGCX  Z01_|5)^QPANX1+ )BMYOZ2Z|5)2]RUNX1 *1_1g)"YPALLD2 )%>TMC8 *1g)KZSWIM72` Z01^1_|5)B9CAPN3  Z*1^1_1g|5):&AP5Z1 01^1_|5)@ATP5F1A Z01^1_|5),.INS21^1_)8*ZMYND11 Z01^1_|5)/CSNK2B01^1_)1TAF601^1_)9%PIGL  01^1_)L;@SLC19A3 Z+ 01^1_cn|5):֘ADPRS Z01^1_|5).BPSMB9 *+ 1g) [dPIP5K1C|5).ADSS11^1_|5)OtNDUFS42 Z+ 01^1_cn|5)/PPP3CA01^1_)BCTLA4 2` *+ 1^1_1g)9jAGO2 2Z01^1_|5)OCOL2A12 Z*01^1_1g|5)&0MAT2A01_HOGA1)0SPNS2)$YZP1 Z|5)PHOX2A);Z2ZNF423 2`01^1_)6:TTBK2  Z01^1_|5)MPSAP Z*+ 01^1_|5):TRAF3  *01^1_cnJ٥WDR112`)/01^1_|5)}PHB1)-݀JPH1Z1^1_|5)1 GALE Z1^|5)(ZSLC35D1Z|5)8USLC13A5 01^1_)!DAZ3 Z|5)G?VANGL1 2 Z*01^1_|5)28iGRHL2 *1^|5)F JPWRN1 2` Z*01^1_|5)9,SGCD  Z1^1_|5)NfTINF22 Z*+ 01^1_1g|5)6BRPF1 Z01^1_|5)!ASIX51^1_)CEP112)9FMN2 Z01^1_|5)F#GBAZ1B 2 )*01^1_1g|5@SLC25A1  *01^1_)VISL1 *qCTNNA3Z|5)7&eDNAJC6 Z01^1_|5)&8TERB2 Z|5).a+MCFD201_)EdTXN2 Z+ 01^1_cn|5)*'JABCB6Z1^|5)-+#MID2Z1^1_|5)^HPS4):R.NEK10  *01^1_1g)BLK2)=PCK1 Z01^1_|5); GALNT2 201^1_)1'COQ7Z1^1_|5)E4SECISBP2 2`Z01^1_|5)I GLI32` )*01^1_|5)%ND4L+ 1^)-DNM101^1_)H GNS Z*+ 01^1_1g|5):SCN2A 2Z01^1_|5).֚SARS22 Z|5)J FUCA12 Z*01^1_|5)CARL13B 2`Z01^1_|5)E'SLC25A15  *01^1_1g)/COL4A201^1_)K"SLC5A6 Z*+ 01^1_|5)2'SFTPB Z*1g|5)LT LOC111365204)4IVD  01^1_)8SERPINF1)" \KDM5D Z|5)9+CALR  *01^1_1g)1BIN1Z1^1_|5)3 GABRA201^1_)' DNAJB21^|5))ROM121^)0(SYNCRIP201^1_2(SFTPC *+ 1^1g):'RAD50 + 01^1_)JLMNB1 Z*01^1_1g|5)"+ \PFrontonasal dysplasia 3B <-*Spastic paraplegia 14, autosomal recessive G r3Mitochondrial complex II deficiency, nuclear type 2" LTukel syndrome>&X*Subaortic stenosis--short stature syndrome- :Huntington disease-like 3A-Hennekam lymphangiectasia-lymphedema syndrome> *SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL6"Osteoporosis-Pseudoglioma syndromeR [&>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2> S*Spastic paraplegia 32, autosomal recessivee sQNeurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia6 k"Peroxisome biogenesis disorder 10B+ CSenior-Loken syndrome 3/ ZEGlycogen storage disease XIK >7Spinal muscular atrophy, distal, autosomal recessive, 2M79Microcephalic osteodysplastic primordial dwarfism, type I_ KKSpondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-sprangertypeP n S*Mental retardation, autosomal recessive 11B `>.Hyperglycinemia, lactic acidosis, and seizures8 @$Ehlers-Danlos syndrome, classic-likeY s>EIntellectual developmental disorder and hypogonadotropic hypogonadismB ]`.Spinocerebellar ataxia, autosomal recessive 10\ YBHPolyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract0 sAicardi-Goutieres syndrome 8?+INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO'*Testes, rudimentarygSGranulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II?.+Mitochondrial myopathy with lactic acidosis$ sDEGCAGS syndrome)Stiff-Person syndrome 8 f$Bleeding disorder, platelet-type, 19RN>Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 E O1Neurodegeneration with brain iron accumulation 2B2 *D-2-Hydroxyglutaric aciduria 1; k'FANCONI ANEMIA, COMPLEMENTATION GROUP UC \/Combined oxidative phosphorylation deficiency 7' *3HYPERTRYPTOPHANEMIAh+TTetramelic deficiencies, ectodermal dysplasia, deformed ears, andother abnormalities7x#Keratoconus posticus circumscriptusC/Hemophagocytic lymphohistiocytosis, familial, 1-HMucopolysaccharidosis IVA6L"Methemoglobin reductase deficiency4 ^^ Osteogenesis imperfecta, type VI'Ragweed sensitivity + Pili torti, early-onsetKhb7Diverticulosis of bowel, hernia, and retinal detachment`bJLPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathyA p-Epileptic encephalopathy, early infantile, 83B u&.Developmental and epileptic encephalopathy 101@,Growth hormone deficiency, isolated, type IAb cNHypotonia, infantile, with psychomotor retardation and characteristic facies 1N tW:Heterotaxy, visceral, 10, autosomal, with male infertilityQ o=Brain abnormalities, neurodegeneration, and dysosteosclerosisO o7;Intellectual developmental disorder, autosomal recessive 67& cImmunodeficiency 8+ Q'Retinitis pigmentosa 36.(]Hemifacial spasm, familialU#ASpinal muscular atrophy with microcephaly and mental subnormality.Microphthalmia, isolated 1/ e,Premature ovarian failure 9, lhSpermatogenic failure 182 B+Ciliary dyskinesia, primary, 2(88Blue diaper syndromet nr\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 ; R'Fanconi anemia, complementation group NU i;ALeukodystrophy and acquired microcephaly with or without dystonia`LLeukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis&ʴAlpha-mannosidosis2 bLymphoproliferative syndrome 2$ KBruck syndrome 2X oDGastrointestinal ulceration, recurrent, with dysfunctional plateletsj;VCamptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases1|Hyaline fibromatosis syndrome+ bNUsher syndrome, type IKD;40Spondylocostal dysostosis, autosomal recessive 1=t)Dihydrolipoamide dehydrogenase deficiency0 uPremature ovarian failure 20' mcImmunodeficiency 554 n Deafness, autosomal recessive 57t jn\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 =<)Cardioauditory syndrome of sanchez cascosF n2Mitochondrial complex I deficiency, nuclear type 78<$Camptomelic syndrome, Long-Limb type.Marinesco-Sjogren syndromeI5Parkinson disease 15, autosomal recessive early-onsetL t!8Deafness, autosomal recessive 118, with cochlear aplasia<(Hyperbilirubinemia, conjugated, type IIIuaAutoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasiaT k@Lung disease, immunodeficiency, and chromosome breakage syndrome; .'Trichoepithelioma, multiple familial, 1 L8Basal ganglia calcification, idiopathic, childhood-onsetk YWSeizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalanceP 7d43-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency] sEINeurodevelopmental disorder with cerebellar atrophy and motor dysfunctionC Ri/Surfactant metabolism dysfunction, pulmonary, 34 ` Deafness, autosomal recessive 96D (Pseudovaginal perineoscrotal hypospadias21$Pericardial effusion, chronic( YCone-Rod dystrophy 94 N Deafness, autosomal recessive 51] isICorpus callosum, agenesis of, with facial anomalies and cerebellar ataxia0 jSedoheptulokinase deficiency&'lGillespie syndrome( fOvarian dysgenesis 4< ](Cardiomyopathy, familial hypertrophic, 9 &Haim-Munk syndrome1ȎLysine malabsorption syndrome8?$Celiac disease, susceptibility to, 1+ ]Meckel syndrome, type 8N:Short-rib thoracic dysplasia 9 with or without polydactylyC/Alpha-aminoadipic and alpha-ketoadipic aciduria1ˊDystonia 3, torsion, X-linked 1 cLeber congenital amaurosis 17%0Lambotte syndromeF.Congenital disorder of glycosylation, type IIcA p4-Epileptic encephalopathy, early infantile, 77= Z)Hypotrichosis and recurrent skin vesicles! Vici syndrome6"Ceroid lipofuscinosis, neuronal, 2B s}.Spinocerebellar ataxia, autosomal recessive 29$(8Filippi syndromeb ]NMyopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-relatedB _.Spinocerebellar ataxia, autosomal recessive 12_ KPseudopapilledema, ocular hypotelorism, blepharophimosis, and handanomalies; *Oral and digital anomalies with ichthyosis> W*Spastic paraplegia 35, autosomal recessive/ tCardiomyopathy, dilated, 2FC `/Combined oxidative phosphorylation deficiency 99 k%Preimplantation embryonic lethality 2C/Leukodystrophy, adult-onset, autosomal dominant +AREDYLD< -(Aprosencephaly and cerebellar dysgenesis&NHolzgreve syndrome3%Brachyolmia type 1, Toledo type. iLOocyte maturation defect 2(Fundus albipunctatusA k<-Developmental and epileptic encephalopathy 48# sWHIM syndrome 26"SPERMATOGENIC FAILURE, X-LINKED, 2B Q[.Xeroderma pigmentosum, complementation group B< ][(Muscular dystrophy, limb-girdle, type 2QE:1Succinyl CoA:3-oxoacid CoA transferase deficiency&Urofacial syndrome)€Letterer-Siwe disease? kJ+Epilepsy, early-onset, vitamin b6-dependent.]Gaucher disease, type IIIC4 J Atrial fibrillation, familial, 2 ` iLDevelopmental delay with short stature, dysmorphic features, and sparse hair/,Orofaciodigital syndrome IV. @Smith-Lemli-Opitz syndrome'Neu-Laxova syndrome/|Prepapillary vascular loops4 Wiedemann-Rautenstrauch syndrome7 m#Leukodystrophy, hypomyelinating, 14=f)Sucrase-isomaltase deficiency, congenital' snImmunodeficiency 813 `Systemic lupus erythematosus 16, tASpermatogenic failure 58<(Aldosteronism, glucocorticoid-remediable ]HIChondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndromeP Thrombophilia due to protein C deficiency, autosomal recessiveX `@Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 6 tN"Rhizomelic dysplasia, Ain-Naz typeV [;BImmunodeficiency due to purine nucleoside phosphorylase deficiencyp h\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2)Sick sinus syndrome 2 9 g%Trichothiodystrophy 2, photosensitive?\+Metaphyseal dysplasia without hypotrichosist o`Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression>*Autoimmune polyendocrine syndrome, type IIJ6Muscular dystrophy, congenital, with rapid progressionK M7Mitochondrial DNA depletion syndrome 2 (myopathic type)R i>Microcephaly, congenital cataract, and psoriasiform dermatitis= n)Neuropathy, congenital hypomyelinating, 3=N)Coloboma of macula and skeletal anomalies6 ."Spondylospinal thoracic dysostosisB@.Xeroderma pigmentosum, complementation group A( Z4Zechi-Ceide syndrome4 W Diabetes mellitus, ketosis-prone, ufSpermatogenic failure 735\!Albinism, oculocutaneous, type IAe jQShort stature, brachydactyly, intellectual developmental disability, and seizuresDl0Dyssegmental dysplasia, Silverman-Handmaker typeX EDIchthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis5vT!Epiphyseal dysplasia, multiple, 4=P0)Nail disorder, nonsyndromic congenital, 3;'Pyruvate kinase deficiency of red cells8 fb$2,4-Dienoyl-Coa reductase deficiency6Neurofaciodigitorenal syndromeo L[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 0 jZHermansky-Pudlak syndrome 10Iƚ1Lymphoblastic transformation, intrinsic defect in5:!Pulmonary venoocclusive disease 2A s-Congenital disorder of glycosylation, type 2VT rB@Cleft palate, proliferative retinopathy, and developmental delayX (:DMale pseudohermaphroditism/mental retardation syndrome, Verloes typeE h'1Epidermolysis bullosa simplex with nail dystrophy0 rWSpermatogenic failure 46 'xNemaline myopathy 3' dImmunodeficiency 154 IG Atrial fibrillation, familial, 1 *'Sugarman brachydactylyA l-Epileptic encephalopathy, early infantile, 55+ ]Retinitis pigmentosa 39qqEncephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degenerationC/Ciliary dyskinesia with defective radial spokesrw^Factor V and factor VIII, combined deficiency of, with normal proteinc and protein C inhibitor.kDysautonomia-Like disorder, oeSpermatogenic failure 35>*Retinitis pigmentosa inversa with deafness/ nNephrotic syndrome, type 18. oqOocyte maturation defect 6#(Lissencephaly 2e udQNeurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizuresH s[4Mitochondrial complex IV deficiency, nuclear type 22%GalactosialidosisD hv0Spondylocostal dysostosis 6, autosomal recessive- Pseudotrisomy 13 syndrome ,RqMuscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibersF@.Xeroderma pigmentosum, complementation group Fu ]aInfections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformationsB l.Multiple mitochondrial dysfunctions syndrome 5OX;Ichthyosis, hepatosplenomegaly, and cerebellar degenerationfRGranulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type IHf4Abnormal hair, joint laxity, and developmental delay% aSeckel syndrome 7K?h3Cerebellar ataxia and hypogonadotropic hypogonadism( nOvarian dysgenesis 7D o0Combined oxidative phosphorylation deficiency 38A `k-Congenital disorder of glycosylation, type IR#WxFraser syndrome0 fPoretti-Boltshauser syndromeA ?2-Spinocerebellar ataxia, autosomal recessive 1B i}.Congenital disorder of glycosylation, type IIP$ (Escobar syndrome' dImmunodeficiency 18MT5Neuropathy, hereditary sensory and autonomic, type II5V!Albinism, oculocutaneous, type VI4 c4 Osteogenesis imperfecta, type XV0sMyopia 2, autosomal dominantH - 4Lethal short-limb skeletal dysplasia, al Gazali typeBp.Spinal and bulbar muscular atrophy, X-linked 1 *UBaller-Gerold syndrome4 R Osteogenesis imperfecta, type XI)FNuchal bleb, familial= t)Brunet-Wagner neurodevelopmental syndromeN t:Dyskinesia with orofacial involvement, autosomal recessive n Diarrhea 9U fARetinal dystrophy, juvenile cataracts, and short stature syndrome, nfSpermatogenic failure 28' eImmunodeficiency 23?+Acrofacial dysostosis syndrome of rodriguez+Meckel syndrome, type 7e tQNeurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis*YCystic disease of lung+ nUsher syndrome, type IVO c;Multiple congenital anomalies-hypotonia-seizures syndrome 3)8Tyrosinemia, type III' eNephronophthisis 183Mucopolysaccharidosis type IIICA f-Microcephaly 12, primary, autosomal recessive0 ,Odontomicronychial dysplasia,DMyopathy, congenital= Z)Pituitary hormone deficiency, combined, 1/ TCataract 17, multiple typesR g>Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 H b4Mitochondrial complex III deficiency, nuclear type 5D{0Hypogonadotropic hypogonadism 23 without anosmia^ sJCentral hypoventilation syndrome, congenital, 2, and autonomic dysfunction/v"EPILEPSY-TELANGIECTASIAV oTBCongenital disorder of glycosylation with defective fucosylation 2H lK4Retinal dystrophy with or without macular staphyloma, eSpermatogenic failure 13: K&Spondylometaphyseal dysplasia, type A4/ \2Cardiomyopathy, dilated, 1S -~Echo virus 11 sensitivity D0Neurodegeneration with brain iron accumulation 1A m-Microcephaly 21, primary, autosomal recessive> e*Spastic paraplegia 61, autosomal recessive0 bbAicardi-Goutieres syndrome 61 _*Leber congenital amaurosis 167/"Thymic aplasia with fetal death2' gImmunodeficiency 39H pf4Spastic tetraplegia and axial hypotonia, progressiveB `.Ehlers-Danlos syndrome, kyphoscoliotic type, 27 lD#Pituitary adenoma 5, multiple types F L-2Epiphyseal dysplasia, multiple, with miniepiphyses0 NPitt-Hopkins-Like syndrome 1=u)Nail disorder, nonsyndromic congenital, 1(1Hypomelanosis of ito8 tp$Immunodeficiency 89 and autoimmunity- mGalloway-Mowat syndrome 4= -)Agammaglobulinemia 1, autosomal recessiveX$DSpondylocostal dysostosis with anal atresia and urogenital anomalies3ICircumvallate placenta syndromef RRPseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency_ 2bKDistal renal tubular acidosis 3, with or without sensorineural hearing lossG mX3Glycosylphosphatidylinositol biosynthesis defect 16Dj0Indolylacroyl glycinuria with mental retardation olHypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalitiesP h *Mental retardation, autosomal recessive 503gMetaphyseal acroscyphodysplasiaDh0Orthostatic hypotension 1, due to DBH deficiency+ .vRetinitis pigmentosa 19D .0Cholestasis, progressive familial intrahepatic 2#:Buerger diseaseFl.Pseudohermaphroditism, male, with gynecomastia3EZunich neuroectodermal syndromeAk-Dyskeratosis congenita, autosomal recessive 13 oHydatidiform mole, recurrent, 4A v-Microcephaly 29, primary, autosomal recessive-Glomuvenous malformations#Oliver syndrome) Y1Cone-rod dystrophy 12U pACerebellar atrophy with seizures and variable developmental delayXjDPeripheral neuropathy, ataxia, focal necrotizing encephalopathy, and+ ZRHadziselimovic syndromeA 1-Spondyloepimetaphyseal dysplasia, Shohat type7 N#Bleeding disorder, platelet-type, 8, JCd8 deficiency, familialF;2Tumoral calcinosis, hyperphosphatemic, familial, 1@ _u,Microcephaly-Capillary malformation syndrome` oLNeurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination8 Q$Cerebrooculofacioskeletal syndrome 4F `I2Arterial calcification, generalized, of infancy, 26 Dm"Focal cortical dysplasia of taylor 8 -$Charcot-Marie-Tooth disease, type 4CK e7Microphthalmia/coloboma and skeletal dysplasia syndrome1 YhLeber congenital amaurosis 134 N Deafness, autosomal recessive 55/ qProteinuria, chronic benign, eSpermatogenic failure 147#Kaufman oculocerebrofacial syndromeB i.Congenital disorder of glycosylation, type IIN3 ]0Beaulieu-Boycott-Innes syndrome;'Hyperphenylalaninemia, BH4-deficient, A+͎Megaepiphyseal dwarfismJ j66Neutropenia, severe congenital, 7, autosomal recessive+ ]Retinitis pigmentosa 59< c(Muscular dystrophy, limb-girdle, type 2R9 s%Diarrhea 12, with microvillus atrophy:<}&Cardiac valvular defect, developmentalL `98Ichthyosis, spastic quadriplegia, and mental retardationG n3Glycosylphosphatidylinositol biosynthesis defect 18"Perry syndrome 4 Ichthyosis and male hypogonadism7 t#Pontocerebellar hypoplasia, type 16<(Muscular dystrophy, limb-girdle, type 2C7 h#Leukodystrophy, hypomyelinating, 12.Immunoglobulin M, level of : ;]&Myoclonic epilepsy, familial infantile' rJoubert syndrome 37H d*Spastic paraplegia 72, autosomal recessive0 rRitscher-Schinzel syndrome 33 _Hydatidiform mole, recurrent, 2B@.Xeroderma pigmentosum, complementation group E-Pituitary dwarfism IV#Jejunal atresiao L[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 1 qImerslund-Grasbeck syndrome 2K7Molybdenum cofactor deficiency, complementation group AE1Anemia, sideroblastic, and spinocerebellar ataxiaA m-Epileptic encephalopathy, early infantile, 60= kx)Nemaline myopathy 11, autosomal recessive6#"Acrocephalopolydactylous dysplasia' tImmunodeficiency 92\ HHCraniosynostosis, calcification of basal ganglia, and facial dysmorphism? rw+Mandibuloacral dysplasia progeroid syndrome)GCholesterol pneumoniaS 7?Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant K h7Epilepsy, hearing loss, and mental retardation syndrome@ :,Microcephaly 3, primary, autosomal recessiveJj6Hemolytic anemia with thermal sensitivity of red cellsmImmunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes) t Cone-rod dystrophy 224 b2 Leptin deficiency or dysfunction5 r]!Mismatch repair cancer syndrome 49G%3-@methylglutaconic aciduria, type IVJ fV6Neutropenia, severe congenital, 6, autosomal recessive0/@Thyrocerebroretinal syndromeA h-Microcephaly 16, primary, autosomal recessive9 eW%Immunodeficiency, common variable, 113 jThauvin-Robinet-Faivre syndromeX iDImmunodeficiency-centromeric instability-facial anomalies syndrome 4- uBraddock-Carey syndrome 2= _)Nail disorder, nonsyndromic congenital, 9G o3Mitochondrial complex I deficiency, nuclear type 25I HT5Charcot-Marie-Tooth disease, recessive intermediate A/ iNephrotic syndrome, type 13A a-Peroxisome biogenesis disorder 3A (Zellweger), u2Spermatogenic failure 694 >z Deafness, autosomal recessive 277:#Renal and mullerian duct hypoplasia9 f%Polyendocrine-Polyneuropathy syndromeI J5Spondylometaphyseal dysplasia with cone-rod dystrophy7-#Fetal akinesia deformation sequence\ sHNeurodevelopmental disorder with dysmorphic facies and variable seizuresO nw;Intellectual developmental disorder, autosomal recessive 64, CMicrocephaly, Amish typeL @t4Parkinson disease 7, autosomal recessive early-onset D t0Hypogonadotropic hypogonadism 27 without anosmiaG o3Mitochondrial complex I deficiency, nuclear type 26& ].Brachyolmia type 2/Progesterone resistancedLAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis2G o3Mitochondrial complex I deficiency, nuclear type 19a vMNeurodevelopmental disorder with microcephaly, hypotonia, and absent language2s5Myopathy, tubular aggregate, 1 . _4Nephrotic syndrome, type 6H \4Arthrogryposis, renal dysfunction, and cholestasis 2- [Roifman-Chitayat syndrome3 ^Ciliary dyskinesia, primary, 166"Ceroid lipofuscinosis, neuronal, 38 k$Bleeding disorder, platelet-type, 21k swWNeurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities? ^+Immunoglobulin kappa light chain deficiency%hDubowitz syndromedPAlaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitusF n2Mitochondrial complex I deficiency, nuclear type 82RSecretory component deficiencyB jz.Congenital disorder of glycosylation, type IAAG n3Mitochondrial complex I deficiency, nuclear type 17- jMyopathy, myofibrillar, 7T@Hypokalemic alkalosis, familial, with specific renal tubulopathy5 b !Deafness, autosomal recessive 84BH,4Arthrogryposis, renal dysfunction, and cholestasis 1D t0Combined oxidative phosphorylation deficiency 543 aCiliary dyskinesia, primary, 174j Amelogenesis imperfecta, type IC- CSpinocerebellar ataxia 17 J eG6Hyperammonemia due to carbonic anhydrase VA deficiencyH Microcephaly, short stature, and impaired glucose metabolism 2L,8Metachromatic leukodystrophy due to saposin B deficiencyQ @=Immunodeficiency 41 with lymphoproliferation and autoimmunity* (Macrocytosis, familial= /)Amyotrophic lateral sclerosis 5, juvenileS?Pelger-Huet-Like anomaly and episodic fever with abdominal painD kc0Anterior segment dysgenesis 6, multiple subtypes+ \Retinitis pigmentosa 58D1,Thyroid hormonogenesis, genetic defect in, 5 g Dystonia 27>?c*Cerebellar ataxia and ectodermal dysplasia+ j?Retinitis pigmentosa 75n`ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3] s9IGrowth restriction, hypoplastic kidneys, alopecia, and distinctive faciesB g.Spinocerebellar ataxia, autosomal recessive 20( lOvarian dysgenesis 59*%Gillessen-Kaesbach-Nishimura syndrome] u9INeurodevelopmental disorder with neuromuscular and skeletal abnormalities2HYPERLEUCINE-ISOLEUCINEMIAA p-Epileptic encephalopathy, early infantile, 81= k\)Bile acid synthesis defect, congenital, 6  VITILIGOVTLG- *Gallbladder disease 1 ' OsImmunodeficiency 259%Robinow syndrome, autosomal recessives A_MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5c tOCholestasis, progressive familial intrahepatic, 7, with or without hearing loss.EGriscelli syndrome, type 1; 'Peroxisomal acyl-coa oxidase deficiencyHX0Interstitial pneumonitis, desquamative, familialg pSIntellectual developmental disorder with short stature and behavioral abnormalitiesU6AGyrate atrophy of choroid and retina with or without ornithinemia]EMyasthenia, congenital, refractory to acetylcholinesterase inhibitors!zPYGMY2M9Macrocephaly/megalencephaly syndrome, autosomal recessive=%Immunoglobulin D level in plasma, low n tOZEpidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive'yFactor X deficiency9%HYPERVITAMINOSIS A, SUSCEPTIBILITY TO48x Tyrosine transaminase deficiency+Hemochromatosis, type 1Q p=Hyper-IgE recurrent infection syndrome 4, autosomal recessiveE g1Myasthenic syndrome, congenital, 3B, fast-channelH r/4Mitochondrial complex IV deficiency, nuclear type 12+ ]Retinitis pigmentosa 38&THeimler syndrome 1# T0Mungan syndromeC/Mental retardation syndrome, Mietens-Weber typeA oo-Microcephaly 25, primary, autosomal recessive>o*Hypothyroidism, congenital, nongoitrous, 5C/METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY/lAcetophenetidin sensitivity:.&Macrosomia with microphthalmia, lethalJj6Neuropathy, hereditary sensory and autonomic, type III1 CAl-Gazali-Bakalinova syndrome/ V(Cardiomyopathy, dilated, 2ARV>Craniosynostosis-Mental retardation syndrome of lin and gettigCL/Hyperbilirubinemia, familial transient neonatall TTDiarrhea 3, secretory sodium, congenital, with or without other congenital anomaliesJL$6Cleft lip/palate with abnormal thumbs and microcephaly5!Methylmalonic aciduria, Cblb typeC٠/Motor neuropathy, peripheral, with dysautonomiaH G4Slowed nerve conduction velocity, autosomal dominant ! t Zaki syndrome> te*Spastic paraplegia 84, autosomal recessiveB eX.Spinocerebellar ataxia, autosomal recessive 160 LGoldberg-Shprintzen syndrome@ n,Diarrhea 10, protein-losing Enteropathy typeP VVH *Chondrodysplasia calcificans metaphysealis- 9Spinocerebellar ataxia 11 QI=Chromosomal instability with tissue-specific radiosensitivity& YImmunodeficiency 9 )< TAURODONTISM4 7 Deafness, autosomal recessive 20K j7Autoinflammation, panniculitis, and dermatosis syndrome6 -"Ischemic stroke, susceptibility to _ -KCardiomyopathy, dilated, 1C, with or without left ventricular noncompaction > _*Mental retardation, autosomal recessive 286~"Focal epithelial hyperplasia, oralY l3ENeurodevelopmental disorder with midbrain and hindbrain malformations+ t^Retinitis pigmentosa 921 -Cataract, age-related nuclearO d;Short-Rib thoracic dysplasia 10 with or without polydactylyX DPolycystic kidney disease 4 with or without polycystic liver disease> _*Mental retardation, autosomal recessive 30& (Fryns macrocephaly,Achondrogenesis, type IA+Hyperprolinemia, type IY sEEncephalitis, acute, infection (viral)-induced, susceptibility to, 11Ts@Adrenocortical unresponsiveness to acth with postreceptor defect; Homocystinuria-megaloblastic anemia, cblg Complementation type06Tryptophanuria with dwarfism/ t{Oocyte maturation defect 11Y q{ESeizures, early-onset, with neurodegeneration and brain calcification% bCowden syndrome 5 + ]~Retinitis pigmentosa 47,Musk, inability to smellb iNHypotonia, infantile, with psychomotor retardation and characteristic facies 3'MPCockayne syndrome AH b4Mitochondrial complex III deficiency, nuclear type 2> a#*Cataract, autosomal recessive congenital 5C o/T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE. tYGalloway-Mowat syndrome 10O d;Intellectual developmental disorder, autosomal recessive 414. Right atrial isomerism (Ivemark)9%Mental retardation, buenos Aires type:&Retinitis pigmentosa, late-adult onsetC /Surfactant metabolism dysfunction, pulmonary, 1*?@Cephalin lipidosis4 ?v Amyotrophic lateral sclerosis 21 = n)Extraoral halitosis due to MTO deficiency+LKapur-Toriello syndrome5 b!Osteogenesis imperfecta, type XIV? e+Growth hormone deficiency, isolated partial1VRenal hypodysplasia/aplasia 1, YPorphyria, acute hepatic8 Q$Cerebrooculofacioskeletal syndrome 25!Glutathione synthetase deficiency3 sCiliary dyskinesia, primary, 46A q-Epileptic encephalopathy, early infantile, 88/ jOrofaciodigital syndrome XV4 r ENDOVE syndrome, limb-brain type(fDihydropyrimidinuria5 o!Deafness, autosomal recessive 115A J-Congenital disorder of glycosylation, type IEB T*Corticosteroid-binding globulin deficiency, tSpermatogenic failure 65? <+Cerebral palsy, ataxic, autosomal recessiveZ [FHydrops fetalis, nonimmune, with gracile bones and dysmorphic featuresa o{MShort stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis:&Alopecia-Mental retardation syndrome 1.(BSyndesmodysplasic dwarfism@ i ,Rhizomelic chondrodysplasia punctata, type 5Z t8FCerebellar ataxia, brain abnormalities, and cardiac conduction defects_ bKEctodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessiveH q4Spondylometaphyseal dysplasia with corneal dystrophy; 5O#Citrullinemia, type II, adult-onset <(Polysyndactyly with cardiac malformation, nSpermatogenic failure 31G b3Mitochondrial complex IV deficiency, nuclear type 6' d,Immunodeficiency 123:Lymphoid interstitial pneumonia,NAdducted thumbs syndromeA ,-Congenital disorder of glycosylation, type Id1V.Craniotelencephalic dysplasia(PYKNOACHONDROGENESISM m 9Myopathy, centronuclear, 6, with fiber-type disproportionA bo-Ichthyosis, congenital, autosomal recessive 9* n%Tetraamelia syndrome 2,2Mandibuloacral dysplasiaA D)Spastic paraplegia 7, autosomal recessive F2Phosphoenolpyruvate carboxykinase 2, mitochondrial> gM*Mental retardation, autosomal recessive 48/ ]UTreacher collins syndrome 20 rPremature ovarian failure 17+ (Fatal familial insomnia H r-4Mitochondrial complex IV deficiency, nuclear type 10O j7Retinal dystrophy with or without extraocular anomalies CN|+Collagenosis, familial reactive perforating' Z46XY sex reversal 5-bLymphokine deficiencyY oECancer, alopecia, pigment dyscrasia, onychodystrophy, and keratodermaG,3Arthrogryposis multiplex congenita, Neurogenic type%l,DYSOSTEOSCLEROSISS D?Vitamin K-dependent clotting factors, combined deficiency of, 2> jD*Mental retardation, autosomal recessive 54A g-Epileptic encephalopathy, early infantile, 29.dGM1-gangliosidosis, type I7 jB#Pontocerebellar hypoplasia, type 2FC ^/Combined oxidative phosphorylation deficiency 8* tLoeys-Dietz syndrome 6 ?+Pilodental dysplasia with refractive errors+@Polydactyly, preaxial IJ N2Systemic lupus erythematosus, susceptibility to, 6 R +>Aplasia cutis congenita, high myopia, and cone-rod dysfunction@,Alpha-Ketoglutarate dehydrogenase deficiencyA)Myopathy with giant abnormal mitochondriaN:Retinal dystrophy, reticular pigmentary, of posterior pole; F'Corneal dystrophy, gelatinous drop-like?+Hypogonadism, primary, and partial alopeciaB I.Aromatic L-amino acid decarboxylase deficiency; q'Mitochondrial DNA depletion syndrome 193 +Deafness, autosomal recessive 6: L&Acromesomelic dysplasia, Demirhan type, ssSpermatogenic failure 549 u%Immunodeficiency 105, severe combinedG d 3Retinitis pigmentosa with or without situs inversusL J8Bifid nose with or without anorectal and renal anomalies: *&Dwarfism, familial, with muscle spasms=%Platelet prostacyclin receptor defectD b#0Combined oxidative phosphorylation deficiency 158~$Osteopetrosis, autosomal recessive 26 J$"Leukodystrophy, hypomyelinating, 2m ["YMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6B q0.Spinocerebellar ataxia, autosomal recessive 28! f@ Analbuminemia8$Bleeding disorder, platelet-type, 17(Peters-Plus syndrome:3("Tinea imbricata, susceptibility toOp;Spinal muscular atrophy with progressive myoclonic epilepsy. /Leishmaniasis, tegumentary0vGlycogen storage disease ixb, f5Bardet-Biedl syndrome 12/ cmCataract 19, multiple typesr q:^Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethalufaMicrospherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma0 PAicardi-Goutieres syndrome 4R>Dentin dysplasia, type I, with microdontia and misshapen teeth9 .K%Trichothiodystrophy 1, photosensitiveE J1Myasthenic syndrome, congenital, 1B, fast-channelJ I6Epilepsy, idiopathic generalized, susceptibility to, 3+ -Martinez-Frias syndrome4 3 Deafness, autosomal recessive 17n dZVentricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness2 \rAlpha-1-Antitrypsin deficiency> q*Spastic paraplegia 82, autosomal recessive=!,)Amyotrophic lateral sclerosis 2, juvenile/Muscular hypertonia, lethal?6+Pituitary dwarfism with large sella turcica<~(Lethal congenital contracture syndrome 1; q;'Mitochondrial DNA depletion syndrome 184 p Osteogenesis imperfecta, type XX4Miyoshi muscular dystrophy 1 `LPrune belly syndrome with pulmonic stenosis, mental retardation, anddeafness3 dPCiliary dyskinesia, primary, 27Cl/Spondylometaphyseal dysplasia, Sedaghatian type& lAl Kaissi syndromeH >4Parkinson disease 6, autosomal recessive early-onset> by*Spastic paraplegia 54, autosomal recessive\qDProliferative vasculopathy and hydranencephaly-hydrocephaly syndrome3 Y+ENDOCRINE-CEREBROOSTEODYSPLASIAR ]>Megaloblastic anemia due to dihydrofolate reductase deficiency; S'Isobutyryl-CoA dehydrogenase deficiency7 s#Ventriculomegaly and arthrogryposis( ABETALIPOPROTEINEMIAD fm0Combined oxidative phosphorylation deficiency 22C P/Tumoral calcinosis, normophosphatemic, familial$$Multiple myeloma $Stromme syndromeCP/Erythrokeratodermia variabilis et progressiva 1/ DGlucocorticoid deficiency 2G t3Immunodeficiency 93 and hypertrophic cardiomyopathy8$Osteopetrosis, autosomal recessive 5G Z}3Optic atrophy 7 with or without auditory neuropathy- gfCole-Carpenter syndrome 2o cQ[MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12> P5*Spastic paraplegia 30, autosomal recessive+ h`Retinitis pigmentosa 734 6H Deafness, autosomal recessive 16' /Friedreich ataxia 2C f/Peroxisomal fatty acyl-CoA reductase 1 disorder# qGalactosemia IV/ eAuriculocondylar syndrome 3> n*Isolated growth hormone deficiency, type V1 [Leber congenital amaurosis 14-9Usher syndrome, type IIIA@ ^e,Dyskeratosis congenita, autosomal dominant 2> _*Mental retardation, autosomal recessive 33WCHirschsprung disease with polydactyly, renal agenesis, and deafnessA@-Spinocerebellar ataxia, autosomal recessive 2A J-Congenital disorder of glycosylation, type Il>9*Hypertrophic neuropathy of dejerine-sottas, lxSpermatogenic failure 191 Exudative vitreoretinopathy 1 & 4Dermatitis, atopico of[Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature*dDiaphragmatic hernia 2[GCarnitine palmitoyltransferase II deficiency, myopathic, stress-induced5,!Arteriosclerosis, severe juvenile-Parana hard-skin syndromeV nBCongenital disorder of glycosylation with defective fucosylation 1GJ3Prader-Willi habitus, osteopenia, and camptodactyly#PhenylketonuriaB g .Spinocerebellar ataxia, autosomal recessive 18 aHypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodesT 1@Bartter syndrome, type 4A, neonatal, with sensorineural deafness,Gaucher disease, type II' rImmunodeficiency 76%lAlzheimer disease (vImmunodeficiency 32B' hImmunodeficiency 44UAOphthalmoplegic neuromuscular disorder with abnormal mitochondria^ lXJSpastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophyVvBEpiphyseal dysplasia, multiple, with early-onset diabetes mellitusLz8Hypophosphatemic rickets with hypercalciuria, hereditaryN f:Microcephaly and chorioretinopathy, autosomal recessive, 2=-B)Thoracic dysplasia-hydrocephalus syndrome= .)Phosphoglycerate dehydrogenase deficiency7#Peroneus tertius muscle, absence of% rHKilquist syndrome"MCohen syndrome] 8IBlepharophimosis with facial and genital anomalies and mental retardation> ]*Cataract, autosomal recessive congenital 4ENCHANDSA pT-Epileptic encephalopathy, early infantile, 80$ cShaheen syndromeL P8Arrhythmogenic right ventricular dysplasia, familial, 11:(&Tapetoretinal degeneration with ataxia'`Deafness and myopia.;fVitamin A metabolic defectO n\;Neurodevelopmental disorder with spasticity and poor growthR _D>Encephalopathy, acute, infection-induced, susceptibility to, 4+Porphyria cutanea tardaL \ 8Autoimmune disease, multisystem, with facial dysmorphism/ c1Ataxia-Oculomotor apraxia 3? Ic'Ribose 5-phosphate isomerase deficiency. OPachygyria, frontotemporalR fa>Microcephaly, short stature, and impaired glucose metabolism 17 i#Leukodystrophy, hypomyelinating, 13. QNephrotic syndrome, type 3+ RCPotocki-Lupski syndrome4 Y Deafness, autosomal recessive 71L+s8Aplasia cutis congenita with intestinal lymphangiectasian~ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1C/Myeloproliferative disease, autosomal recessive' hJoubert syndrome 24O L;Syndactyly, mesoaxial synostotic, with phalangeal reduction4^ Microcephaly-Micromelia syndrome8$Hypertrophic neuropathy and cataractZ )FIntrauterine growth retardation with increased mitomycin C sensitivityB u.Developmental and epileptic encephalopathy 106I Q5Neutropenia, severe congenital 3, autosomal recessive;'Mosaic variegated aneuploidy syndrome 1R o>Encephalopathy, acute, infection-induced, susceptibility to, 9Y DESpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1UAAdrenal hyperplasia, congenital, due to 21-hydroxylase deficiency6 a"Osteogenesis imperfecta, type XIIIL8Retinopathy, pericentral pigmentary, autosomal recessive;:,'Bulbar palsy, progressive, of childhood'vLowry-Wood syndromem -YGrowth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction_ IGNeuropathy, hereditary sensory and autonomic, adult-onset, with anosmia 7 H#Platelet glycoprotein IV deficiency, cMeckel syndrome, type 11D E0Neuronopathy, distal hereditary motor, type VIIB G o3Mitochondrial complex I deficiency, nuclear type 27@ f,Charcot-Marie-Tooth disease, axonal, type 2S7ƨ#Spatial visualization, aptitude forR>Sjogren-Larsson-Like ichthyosis without CNS or eye involvement_ sKInfantile-onset multisystem neurologic, endocrine, and pancreatic disease 23Pancreatic agenesis, congenital& Anencephaly> h*Spastic paraplegia 75, autosomal recessive7 t#Heterotaxy, visceral, 12, autosomal8 Q$Macular degeneration, age-related, 4 " 3CDAGS syndromeO j;Short-Rib thoracic dysplasia 16 with or without polydactyly1 -KMyopathy, myofibrillar, 1 " Z3mc syndrome 2: >v&Citrullinemia, type II, neonatal-onset6 u"Osteogenesis imperfecta, type XXIID t0Dystonia, early-onset, and/or spastic paraplegia A I-Congenital disorder of glycosylation, type Ik5 ]!Osteogenesis imperfecta, type XII$ rgCoach syndrome 2Akd-Anemia, dyserythropoietic congenital, type II3Laryngoonychocutaneous syndrome0 _Pitt-Hopkins-Like syndrome 2'wNEthanolaminosis6 ^"Leukotriene C4 synthase deficiency< g_(Lethal congenital contracture syndrome 8C#/Spinal muscular atrophy with mental retardation1HHypoadrenocorticism, familial=)Hyperphosphatemia, polyuria, and seizures+ڽMucolipidosis III gamma3 bCiliary dyskinesia, primary, 208 dX$Triosephosphate isomerase deficiency@-(Thanatophoric dysplasia, glasgow variantY . ELung agenesis, congenital heart defects, and thumb anomalies syndromeA p5-Hepatitis, fulminant viral, susceptibility to@ C,Spastic paralysis, infantile-onset ascending7 r#Coenzyme Q10 deficiency, primary, 9> E`*Spastic paraplegia 24, autosomal recessiveA#-Spinocerebellar ataxia, autosomal recessive 3Bn .Ectodermal dysplasia and neurosensory deafnessY uEIntellectual developmental disorder with autism and dysmorphic facies$ ]Masp2 deficiencyG3Acyl-Coa dehydrogenase, medium-chain, deficiency ofB c.Spinocerebellar ataxia, autosomal recessive 14/ +XVan den Ende-Gupta syndrome0&Sudden infant death syndrome ̌ Cervical rib< g8(Lethal congenital contracture syndrome 6M Z:9Hemolytic uremic syndrome, atypical, susceptibility to, 2= )Spondyloarthropathy, susceptibility to, 2: ^*&Alopecia-Mental retardation syndrome 33 d:Ciliary dyskinesia, primary, 25+ l\Meier-Gorlin syndrome 80 iPremature ovarian failure 120 rdSpermatogenic failure 48 -hvDohle bodies and leukemia=)Pituitary hormone deficiency, combined, 2T@Leukemia, acute myelocytic, with polyposis coli and colon cancer' rImmunodeficiency 79, e^Oocyte maturation defect/ MCataract 22, multiple typesF i2Retinitis pigmentosa and erythrocytic microcytosisI5Polycystic kidney, cataract, and congenital blindness> pM*Hypothyroidism, congenital, nongoitrous, 7+ ]Meier-Gorlin syndrome 52.Short stature-obesity syndrome-Immune deficiency disease' gNephronophthisis 196 T"Pontocerebellar hypoplasia, type 6:&Hypomandibular faciocranial dysostosisH q4Chronic granulomatous disease 5, autosomal recessiveD0Oculocerebral hypopigmentation syndrome of preus3 rfArthrogryposis, distal, type 1C$ KEmanuel syndromeA X-Congenital disorder of glycosylation, type IQ1 Q4Leber congenital amaurosis 12N%:Spondyloepiphyseal dysplasia tarda with mental retardation' EImmunodeficiency 67= ])Complement component 8 deficiency, type I*8Bowen-Conradi syndrome+ ()Retinitis pigmentosa 12O u;Neurodevelopmental disorder with epilepsy and brain atrophyA g-Microcephaly 14, primary, autosomal recessive' nJoubert syndrome 355<!White forelock with malformations? I'Insulin-Like growth factor I deficiency8t$Osteopetrosis, autosomal recessive 1[ tGCongenital heart defects, multiple types, 8, with or without heterotaxy1 8 Poikiloderma with neutropenia!t Paraoxonase 1# gaOptic atrophy 9E jY1Cholestasis, progressive familial intrahepatic, 50 rHermansky-Pudlak syndrome 118 W$Jervell and Lange-Nielsen syndrome 2. 8;Cataract 9, multiple types"WCrome syndrome> bw*Spastic paraplegia 49, autosomal recessive1 ULeber congenital amaurosis 10VBBranchial myoclonus with spastic paraparesis and cerebellar ataxia ULABiotinidase deficiencymultiple carboxylase deficiency, late-onsetW(CProteasome-associated autoinflammatory syndrome 1 and digenic formsF92BRACHYMETAPODY-ANODONTIA-HYPOTRICHOSIS-ALBINOIDISM3 BhGlucose/galactose malabsorption/ ^Hermansky-Pudlak syndrome 4A c-Microcephaly 11, primary, autosomal recessive& WJoubert syndrome 8H4Popliteal pterygium syndrome, Bartsocas-Papas type 1A G]-Congenital disorder of glycosylation, type Ij< (Spastic ataxia, Charlevoix-Saguenay type) GCone-rod dystrophy 13D b0Combined oxidative phosphorylation deficiency 134 C} Deafness, autosomal recessive 30D b 0Combined oxidative phosphorylation deficiency 12&Rhabdomyosarcoma 17@#Xeroderma pigmentosum, Variant type-2Atelosteogenesis, type IIW ]xCHYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCYJu(6Epidermolysis bullosa dystrophica, autosomal recessiveC P/Combined oxidative phosphorylation deficiency 3A T-Arrhythmogenic right ventricular dysplasia 12 .:Van bogaert-hozay syndrome(9Kyphomelic dysplasia% Ackerman syndrome<9(Bowen syndrome of multiple malformations' h*Joubert syndrome 23> q*Spastic paraplegia 81, autosomal recessiveh 8TMicrocephaly 2, primary, autosomal recessive, with or without cortical malformations% /Trimethylaminuriao OS[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 d PPEncephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1E r1Proteasome-associated autoinflammatory syndrome 4"3mc syndrome 1G o3Mitochondrial complex I deficiency, nuclear type 21? j^+Striatonigral degeneration, childhood-onset' eImmunodeficiency 24) cCone-Rod dystrophy 18"=Wilson disease2 dComplement factor B deficiency; c#Ceroid lipofuscinosis, neuronal, 13 / :]Cardiomyopathy, dilated, 1I ?v+Ichthyosis, split hairs, and amino aciduria, u[Spermatogenic failure 72r JZDrug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, includedIV5Craniosynostosis-Mental retardation-clefting syndrome0 uDystonia 35, childhood-onset6 ."Ceroid lipofuscinosis, neuronal, 6: 3"Myasthenic syndrome, congenital, 5 $Opsismodysplasia# 1Grange syndromeU s;ANeurodevelopmental disorder with seizures and gingival overgrowth' jJoubert syndrome 274= Lysosomal acid lipase deficiency7 _6#Myasthenic syndrome, congenital, 16"Ramon syndrome+fSpermatogenic failure 1?ZR+Ventriculomegaly with cystic kidney diseaseP X_ j*Mental retardation, autosomal recessive 57:K*&Cleft-Limb-Heart malformation syndrome/ aWeill-Marchesani syndrome 3G l3Microcephaly, short stature, and limb abnormalitiesVpBEctodermal dysplasia, ectrodactyly, and macular dystrophy syndromeC _/Surfactant metabolism dysfunction, pulmonary, 5/ iLymphedema, hereditary, III>*Multiple acyl-CoA-dehydrogenase deficiency@ u ,Epidermolysis bullosa, junctional 3B, severe8/$Ataxia-Deafness-Retardation syndrome2 V,Ciliary dyskinesia, primary, 78 \x$Immunodeficiency, common variable, 6VuBEpilepsy, photogenic, with spastic diplegia and mental retardationd ZPEncephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 23 ]Ciliary dyskinesia, primary, 14, lySpermatogenic failure 20D j0Combined oxidative phosphorylation deficiency 30o f[Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delaymYProgressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessiveL a8Hypogonadotropic hypogonadism 12 with or without anosmia/ [KWeill-Marchesani syndrome 4" ]C1q deficiencyR lF>Gaze palsy, familial horizontal, with progressive scoliosis, 2O7Polycystic liver disease 1 with or without kidney cysts '>Martsolf syndrome 1F (2Vitamin D hydroxylation-deficient rickets, type 1B.Frontofacionasal dysplasia! Mohr syndrome5 g%!Osteogenesis imperfecta, type XVI"]TDoors syndrome#*Mcleod syndrome (Ocular motor apraxia<y>(Fanconi anemia, complementation group D2; h'Ullrich congenital muscular dystrophy 2=^)Deafness, congenital, with total albinismaoMEctodermal dysplasia, hypohidrotic, with hypothyroidism and ciliarydyskinesia) Glutaric aciduria IIIPP-Dwarfism, proportionate, with hip dislocation7 E#Skin fragility-woolly hair syndrome' \Nephronophthisis 11S f?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 125 rU!Deafness, autosomal recessive 1162Craniometadiaphyseal dysplasiaKu7Epidermolysis bullosa, junctional, with pyloric atresia8 S$Charcot-Marie-Tooth disease, type 4JE Q-Spinocerebellar ataxia, autosomal recessive 8 I *5Scid, autosomal recessive, T-Negative/b-Positive typex ZdMyopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay6 MY"Chromosome 10Q26 deletion syndrome8d$Pyruvate dehydrogenase E2 deficiency;F#3-methylglutaconic aciduria, type I 4 [ Deafness, autosomal recessive 25D L0Muscular dystrophy, congenital, merosin-positive+ f-Bardet-Biedl syndrome 2= t|)Immunodeficiency 91 and hyperinflammation1 Pulmonary hypoplasia, primaryJ o&6Fibrosis, neurodegeneration, and cerebral angiomatosisE O*1Pyridoxamine 5-prime-phosphate oxidase deficiencyH F4Spondyloenchondrodysplasia with immune dysregulationO sW;Megacystis-microcolon-intestinal hypoperistalsis syndrome 2+ jPeeling skin syndrome 5b oLNIntellectual developmental disorder with cardiac defects and dysmorphic facies)Factor XII deficiency+ ]Meier-Gorlin syndrome 4B lc.Ichthyosis, congenital, autosomal recessive 14/ qSuleiman-El-Hattab syndrome:&Radial heads, posterior dislocation of+ 4:Meckel syndrome, type 26 r"Oculocutaneous albinism, type VIIIn aZMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8. ^Stickler syndrome, type IV> .*Hyperinsulinemic hypoglycemia, familial, 2! X^ C6 deficiency r}Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosisD qW0Combined oxidative phosphorylation deficiency 42= I)Cardiomyopathy, familial hypertrophic, 10 6"Hyperlysinuria with hyperammonemia, (6Warburg micro syndrome 1/4Glycogen storage disease IV0vOculopalatocerebral syndromeR n>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8) u:Ovarian dysgenesis 10_)GMitochondrial myopathy with A defect in mitochondrial-protein transport0 [+GABA-transaminase deficiency' cPerrault syndrome 48TX$Cranial nerves, recurrent paresis ofF2Persistent mullerian duct syndrome, types I and II5 Z!Asphyxiating thoracic dystrophy 3' i$Immunodeficiency 46> h*Spastic paraplegia 9B, autosomal recessive' l*Immunodeficiency 52> jV*Spastic paraplegia 77, autosomal recessivep @ \Intellectual developmental disorder with short stature, facial anomalies, and speech defects03Transcobalamin II deficiency8E$Charcot-Marie-Tooth disease, type 4A& iEven-Plus syndromek 8HWLeber congenital amaurosis-3 (LCA3)/Retinitis pigmentosa, juvenile, autosomal recessiveA a-Peroxisome biogenesis disorder 6A (Zellweger)A Gh-Congenital disorder of glycosylation, type IhR k}>Cerebroretinal microangiopathy with calcifications and cysts 24 ]5 Deafness, autosomal recessive 83QI9Ciliary discoordination due to random ciliary orientation,9Usher syndrome, type IIAQ u=Keratoderma-ichthyosis-deafness syndrome, autosomal recessive8$LACTIC ACIDURIA DUE TO D-LACTIC ACIDI fg5Charcot-Marie-Tooth disease, recessive intermediate D-Knobloch syndrome, type 1G n3Mitochondrial complex I deficiency, nuclear type 13Ip5Ehlers-Danlos syndrome, type VII, autosomal recessive;^'Acrorenal syndrome, autosomal recessive3 pCiliary dyskinesia, primary, 42, tSpermatogenic failure 62O f+;Intellectual developmental disorder, autosomal recessive 452 e#Bone marrow failure syndrome 2B ,.Ichthyosis, congenital, autosomal recessive 4A-) Tatsumi factor deficiency/ gKAtaxia-Oculomotor apraxia 4, lSpermatogenic failure 21D sz0Combined oxidative phosphorylation deficiency 52! O6 C7 deficiencyF n2Mitochondrial complex I deficiency, nuclear type 4D I0Spondylocostal dysostosis 2, autosomal recessiveD~0Hypogonadotropic hypogonadism 24 without anosmia@ n,Growth hormone deficiency, isolated, type IV52!Hypercholesterolemia, familial, 16h"Diabetes insipidus, nephrogenic, 2A:-Vas deferens, congenital bilateral aplasia of, Bernard-Soulier syndrome8/n$Ataxia, deafness, and cardiomyopathy4 FM Deafness, autosomal recessive 370 v#Cardiac valvular dysplasia 2#IMINOGLYCINURIAK h7Seizures, cortical blindness, and microcephaly syndromeM H5Muscular dystrophy, limb-girdle, autosomal dominant 2 9 i%Heart and brain malformation syndrome, u7Spermatogenic failure 715 `_!Pseudohypoaldosteronism, type IID7 X&#Pontocerebellar hypoplasia, type 2C' WImmunodeficiency 68Z oFGlobal developmental delay, progressive ataxia, and elevated glutamineB g.Fibrosis of extraocular muscles, congenital, 5Q=Ichthyosiform erythroderma, corneal involvement, and deafnessO d;Short-Rib thoracic dysplasia 11 with or without polydactylyI \5Myopathy, lactic acidosis, and sideroblastic anemia 2bNRadioulnar synostosis, unilateral, with developmental retardationand hypotonia9ȸ%Leukocyte adhesion deficiency, type I3Hypoplastic left heart syndrome> `&*Cutis laxa, autosomal recessive, type IIIBA s-Microcephaly 28, primary, autosomal recessiver^Amino aciduria with mental deficiency, dwarfism, muscular dystrophy,osteoporosis, and acidosisR r>Short stature, oligodontia, dysmorphic facies, and motor delayH;4Methylmalonic aciduria and homocystinuria, Cbld type' aImmunodeficiency 295 b!!Deafness, autosomal recessive 18B7:J#Brown-Vialetto-Van laere syndrome 1Q (=Pancreatic beta cell agenesis with neonatal diabetes mellitus9 T>%Spastic ataxia 3, autosomal recessiveA S-Deafness, sensorineural, and male infertility" 0(Rhyns syndrome',Isovaleric acidemia> G*Spastic paraplegia 25, autosomal recessive3 bArthrogryposis, distal, type 5DNS:Cortical blindness, retardation, and postaxial polydactyly- m*Spinocerebellar ataxia 46 @,Plasma clot retraction factor, deficiency ofO ^;Multiple congenital anomalies-hypotonia-seizures syndrome 1<(Internal carotid arteries, hypoplasia of9 dh%Parkinson disease 19a, juvenile-onset7 g##Myasthenic syndrome, congenital, 15  Pyle disease4Magnesium, elevated red cell( bUrofacial syndrome 2& PIMevalonic aciduria; T'Lymphangiectasia, pulmonary, congenital8 t$Immunodeficiency 86, mycobacteriosis9 nZ%Epilepsy, familial adult myoclonic, 6 B&.Phosphoglycerate mutase, muscle, deficiency of. rOocyte maturation defect 8" t%SIMHA syndromeR I>Ciliary dyskinesia, primary, 3, with or without situs inversus#Pyloric atresia( 7Cone-rod dystrophy 3& G[Joubert syndrome 27 ]#Pontocerebellar hypoplasia, type 2DGuZ3Epidermolysis bullosa, junctional, Non-Herlitz type: [u&Glomerulosclerosis, focal segmental, 5 1zFascial dystrophy, congenital> [**Spastic paraplegia 45, autosomal recessive> t*Ferguson-Bonni neurodevelopmental syndromeG r(3Mitochondrial complex IV deficiency, nuclear type 4@ aC,Adenine phosphoribosyltransferase deficiency$ <Paragangliomas 3 5 o!Deafness, autosomal recessive 100D:0Cholestasis, progressive familial intrahepatic 1A-Ichthyosis, congenital, autosomal recessive 24 p Polydactyly, postaxial, type A10D o+0Visual impairment and progressive phthisis bulbi\ QHDeafness, congenital, with inner ear agenesis, microtia, and microdontia1~tFleck retina, familial benign'nHalothane hepatitisRU>Craniosynostosis with anomalies of the cranial base and digitsP s N*Hyperinsulinemic hypoglycemia, familial, 4$4Oguchi disease 1S s?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type)' t>Joubert syndrome 40, ?3Transaldolase deficiencyD d0Arthrogryposis, mental retardation, and seizures[~GAdrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency%)Tay-Sachs diseaseZ nFOsteochondrodysplasia, brachydactyly, and overlapping malformed digitsUP>AContractures, congenital, torticollis, and malignant hyperthermia- _Stickler syndrome, type VYEHypertrichosis, congenital anterior cervical, with peripheral sensory35Bifid nose, autosomal recessiveH`4Mitochondrial complex III deficiency, nuclear type 1D r0Combined oxidative phosphorylation deficiency 506 g&"Epilepsy, progressive myoclonic, 80Carey-Fineman-Ziter syndromeR>Hemolytic anemia, nonspherocytic, due to hexokinase deficiency> ]*Complement component 8 deficiency, type II5 hC!Deafness, autosomal recessive 104>!*Spastic paraplegia 5A, autosomal recessive3 nPolydactyly, postaxial, type A8K h(7Neuropathy, hereditary sensory and autonomic, type VIIIC K$/Combined oxidative phosphorylation deficiency 15h!Agenesis of cerebral white matterc&@OAnemia, nonspherocytic hemolytic, possibly due to defect in porphyrinmetabolism; n'Ehlers-Danlos syndrome, classic-like, 2+ NyRetinitis pigmentosa 32I _5Hypermethioninemia due to adenosine kinase deficiencyRH>Cutis verticis gyrata, thyroid aplasia, and mental retardation2F Id2Mandibuloacral dysplasia with type B lipodystrophy, lSpermatogenic failure 223 :Myoclonic epilepsy, juvenile, 2_ oKNeurodevelopmental disorder with seizures and speech and walking impairment@ hi,Dyskeratosis congenita, autosomal dominant 68D$Cerebrooculofacioskeletal syndrome 1A rt-Developmental and epileptic encephalopathy 89K q`7Muscular dystrophy, limb-girdle, autosomal recessive 26: p&Diarrhea 11, malabsorptive, congenital4 Un Dystonia with cerebellar atrophyP d\*Mental retardation, autosomal recessive 38VBImmunodeficiency-Centromeric instability-facial anomalies syndrome"7Bloom syndromeG mR3Glycosylphosphatidylinositol biosynthesis defect 151 g Cerebellofaciodental syndrome. EGriscelli syndrome, type 25 X#!Sarcoidosis, susceptibility to, 2 @ 1!,Ectodermal dysplasia 8, Hair/tooth/nail type, -Stuve-Wiedemann syndrome% BSeckel syndrome 2h qTArthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosumI i5Chorea, childhood-onset, with psychomotor retardation> b{*Spastic paraplegia 55, autosomal recessive ^ AcatalasemiaF s12Immunodeficiency 80 with or without cardiomyopathy6 G"Pontocerebellar hypoplasia, type 3&*Takayasu arteritis(+hApnea, central sleep)Myasthenia gravis2 r4^Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalitiesof the hands and feetB uV.Spinocerebellar ataxia, autosomal recessive 323 B9Glut1 deficiency syndrome 1!4P Behr syndrome3 aCiliary dyskinesia, primary, 18. \Microphthalmia, isolated 6e rQNeurodevelopmental disorder with cerebral atrophy and variable facial dysmorphismp jm\Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3[GLimb defects, distal transverse, with mental retardation and spasticity3 d9Ciliary dyskinesia, primary, 24G u3Glycosylphosphatidylinositol biosynthesis defect 258 f$Aortic aneurysm, familial thoracic 9 ` +LMidline malformations, multiple, with limb abnormalities and hypopituitarism4 Fructose intolerance, hereditary4' Anodontia of permanent dentition-Acth deficiency, isolatedF2Membranoproliferative glomerulonephritis, X-linkedA 4 -Congenital disorder of glycosylation, type Ic6 b"Peroxisome biogenesis disorder 14B1 .Exudative vitreoretinopathy 4Z - FBrachycephaly, deafness, cataract, microstomia, and mental retardation(Reticular dysgenesiaA>-Cataract-Ataxia-Deafness-Retardation syndromeO ^;Intellectual developmental disorder, autosomal recessive 14_ eKEpileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta- ^Hepatic lipase deficiency& gBMeckel syndrome 127 a#Pontocerebellar hypoplasia, type 1BB c.Multiple mitochondrial dysfunctions syndrome 39 in%Preimplantation embryonic lethality 1% lFraser syndrome 3. GDIAPHANOSPONDYLODYSOSTOSISi jUEncephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum:3&Squamous cell carcinoma, head and neckO o;Intellectual developmental disorder, autosomal recessive 706"Albinism, oculocutaneous, type III4| Eosinophil peroxidase deficiency+ ]|Retinitis pigmentosa 49/ m^Alkuraya-Kucinskas syndromeS qH?Basal ganglia calcification, idiopathic, 8, autosomal recessive"AYoung syndrome> ` *Spastic paraplegia 46, autosomal recessive4 Alpha-Methylacetoacetic aciduria+ `UV-sensitive syndrome 2b nNPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2C n/Hennekam lymphangiectasia-lymphedema syndrome 3+ eMitchell-Riley syndromeD g0Combined oxidative phosphorylation deficiency 234~Neutrophil actin dysfunctionH Y4Adenylate kinase deficiency, hemolytic anemia due toF W*2Epidermolysis bullosa simplex with pyloric atresia/\Hypophosphatasia, infantile-vErythema of acral regions8.$Renal-hepatic-pancreatic dysplasia 1d aPEncephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 66 ^"Epilepsy, progressive myoclonic, 6A =-Charcot-Marie-Tooth disease, axonal, type 2B1IQ85Corneal endothelial dystrophy and perceptive deafnessA j-Epileptic encephalopathy, early infantile, 37Bo$.Cleft lip/palate-ectodermal dysplasia syndrome> b*Spastic paraplegia 43, autosomal recessive+ hRetinitis pigmentosa 72@;,Camptodactyly syndrome, guadalajara, type IIv qbMyopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies^ twJNeurodevelopmental disorder with hypotonia and gross motor and seech delayL8Tubulointerstitial kidney disease, autosomal dominant, 2 NS:Agenesis of the corpus callosum with peripheral neuropathyD b 0Combined oxidative phosphorylation deficiency 116(H"Microphthalmia with limb anomalies3 Retinal arteries, tortuosity of e 8vQRenal tubular acidosis, proximal, with ocular abnormalities and mentalretardation6 p"Infantile liver failure syndrome 35!Peroxisome biogenesis disorder 3B] iIOptic atrophy 10 with or without ataxia, mental retardation, and seizures' _ Hyperbiliverdinemia1Pfeiffer-Palm-Teller syndrome#OJalili syndrome5^!Acrofrontofacionasal dysostosis 2A [-Spondylo-Megaepiphyseal-Metaphyseal dysplasia4 Mucopolysaccharidosis, type IIIDf 8RCardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1B 8*Spastic paraplegia 11, autosomal recessive 5!Acrofrontofacionasal dysostosis 1.oEctopia lentis et pupillae_ `KMicrocephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome' cNemaline myopathy 8C 5/Hemophagocytic lymphohistiocytosis, familial, 2' bPerrault syndrome 2+ 8ZHemochromatosis, type 3$ pSitosterolemia 2& ?fPropionic acidemia;.P'Thrombocytopenia-absent radius syndromeO m-;Intellectual developmental disorder, autosomal recessive 61$ȊSneddon syndromeRR>Osteogenesis imperfecta congenita, microcephaly, and cataracts6 :"Muscular dystrophy, congenital, 1BF ip2Hypotonia, infantile, with psychomotor retardation0 ]Leber congenital amaurosis 7Rb>Ichthyosis, mental retardation, dwarfism, and renal impairment3 +Deafness, autosomal recessive 9- PGaucher disease, atypical$3Tibial hemimeliaC \/Microcephaly, seizures, and developmental delay@ qb,Hypervalinemia or hyperleucine-isoleucinemia% Pulmonic stenosis+ ]*Spastic paraplegia 48, autosomal recessiveK a7Hypogonadotropic hypogonadism 8 with or without anosmia; o'Trichohepatoneurodevelopmental syndromeZS|FCorpus callosum, agenesis of, with facial anomalies and Robin sequence% Hooft disease, r$Spermatogenic failure 446 Q"Epiphyseal dysplasia, Baumann type2 ICiliary dyskinesia, primary, 5-3Oliver-Mcfarlane syndrome-ȶMacdermot-Winter syndrome4v Nephrolithiasis, calcium oxalateg oSNeurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia8 \w$Immunodeficiency, common variable, 50Gm1-gangliosidosis, type IIID 0Pulmonary atresia with intact ventricular septumA J-Pyruvate dehydrogenase phosphatase deficiencyB Sn.Congenital disorder of glycosylation, type IIhG s3Mitochondrial complex I deficiency, nuclear type 37Y aEShort stature, onychodysplasia, facial dysmorphism, and hypotrichosisV><BCataract, microcephaly, failure to thrive, kyphoscoliosis syndrome+?Xanthinuria, type In [ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2G fY3Glycosylphosphatidylinositol biosynthesis defect 11, uSpermatogenic failure 67F2Amelogenesis imperfecta, hypomaturation type, iia14! Spastic diplegia, Infantile type+ BUsher syndrome, type IGI ] 5Charcot-marie-tooth disease, recessive intermediate B_;GVitiligo, progressive, with mental retardation and urethral duplicationQ j=Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)6M"Growth factors, combined defect of, D^Smith-Mccort dysplasia 14 g Familial adenomatous polyposis 3(46,xy sex reversal 7> g*Mental retardation, autosomal recessive 47\,HArthrogryposis, distal, with mental retardation and characteristicfacies+ pUsher syndrome, type 1M2Alopecia universalis congenita/Spondylocostal dysostosis 52 \ Fanconi renotubular syndrome 2# k'Lissencephaly 8& 6Long QT syndrome 3 6 R"Ceroid lipofuscinosis, neuronal, 7) +LKennerknecht syndrome6="Cataract and congenital ichthyosis2tEpilepsy, pyridoxine-dependent4 T{ Deafness, autosomal recessive 63%Fountain syndromeM t9Leukoencephalopathy, hereditary diffuse, with spheroids 2 *$Retinitis pigmentosa 6C/Retinopathy, pigmentary, and mental retardation?+Deoxyribose-5-Phosphate aldolase deficiency*(Laurence-Moon syndrome5 l!Deafness, autosomal recessive 107;`'Hypospadias-Mental retardation syndrome2 dAmyloidosis, cutaneous bullous$Sandhoff disease\ ]HMethylmalonic aciduria, transient, due to transcobalamin receptor defect- Y{Faciocardiomelic syndromeH\<4Dandy-Walker malformation with postaxial polydactyly< a(Sinoatrial node dysfunction and deafness! ,~ Naxos disease> h*Spastic paraplegia 74, autosomal recessive0Glycoprotein storage disease=G)Bile acid synthesis defect, congenital, 4A5"-3-Methylcrotonyl-CoA carboxylase 2 deficiency4 < Deafness, autosomal recessive 264 u Liver disease, severe congenital> ^*Spastic paraplegia 47, autosomal recessive> `V*Thrombophilia due to thrombomodulin defect > t*Spastic paraplegia 86, autosomal recessive4 Glutamate monosodium sensitivity^+FTetra-Amelia with ectodermal dysplasia and lacrimal duct abnormalities9>%Second metatarsal-metacarpal syndromeM 6)9Myopathy, myofibrillar, 9, with early respiratory failure ' oImmunodeficiency 628 -$Dyssegmental dysplasia with glaucoma- DBothnia retinal dystrophyE1Hypertelorism, microtia, facial clefting syndromei HUVater-Like defects with pulmonary hypertension, laryngeal webs, and growth deficiency7 a2#Ceroid lipofuscinosis, neuronal, 116 ,"Dental anomalies and short stature3fPErythrocytosis, familial, 85 S!Asphyxiating thoracic dystrophy 2+ɺHypomagnesemia 3, renalS?Achondroplasia, so-called, and severe combined immunodeficiencyL d8Macular degeneration, age-related, 15, susceptibility to + >~Spondyloocular syndrome- _Brittle cornea syndrome 2s d_Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity: &Hall-Riggs mental retardation syndrome8 $Cardiac valvular dysplasia, X-linked3 o<Ciliary dyskinesia, primary, 40F X2Amelogenesis imperfecta, hypomaturation type, iia2I c5Charcot-Marie-Tooth disease, recessive intermediate C5!Glaucoma 3, primary congenital, AK a7Spinal muscular atrophy, distal, autosomal recessive, 5% DMeckel syndrome 3$YlCYSTATHIONINURIA5 An!Albinism, oculocutaneous, type IVo r[Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies5p!Myosclerosis, autosomal recessiveO a;Monocyte and dendritic cell deficiency, autosomal recessive( \Aromatase deficiency[ _GEncephalopathy due to defective mitochondrial and peroxisomal fission 1; ^?'Fanconi anemia, complementation group P2 rBile acid conjugation defect 13 dQCiliary dyskinesia, primary, 28s k_Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies3Hyperoxaluria, primary, type IIH r4Myopathy, epilepsy, and progressive cerebral atrophy+ \Retinitis pigmentosa 56/@Premature ovarian failure 1 " Omodysplasia 1H4Olivopontocerebellar atrophy II, autosomal recessiveF n 2Tumoral calcinosis, hyperphosphatemic, familial, 24 8 Left ventricular noncompaction 1 D s0Combined oxidative phosphorylation deficiency 533 cECongenital short bowel syndrome0 ENiemann-pick disease, type B$zBruck syndrome 1 V Dystonia 165ZMonocyte chemotactic disorder3Achalasia-Microcephaly syndrome) nJaberi-Elahi syndrome3 IIchthyosis prematurity syndrome. DPatent ductus arteriosus 1&8Hyper-Igd syndrome8 s$Portal hypertension, noncirrhotic, 2' iMJoubert syndrome 25G r3Mitochondrial complex I deficiency, nuclear type 36/ZAcrocraniofacial dysostosisE`t1Deafness, conductive, with malformed external ear4 [ Deafness, autosomal recessive 79> S*Mental retardation, autosomal recessive 129S%Cranial nerves, congenital paresis of? r+Insulin-Like growth factor I, resistance to< b(Colorectal cancer, susceptibility to, 12 D m0Combined oxidative phosphorylation deficiency 36' FNAlzheimer disease 3 L e8Familial idiopathic steroid-resistant nephrotic syndromeA;Intellectual developmental disorder, autosomal recessive 68>*Vestibulocochlear dysfunction, progressiveZ tFNeurodevelopmental disorder with hyperkinetic movements and dyskinesia(e$DIASTEMATOMYELIAc OlOMental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome8 fB$Focal segmental glomerulosclerosis 7 H e4Mitochondrial complex III deficiency, nuclear type 8! A Lig4 syndrome]tIMale infertility with large-headed, multiflagellar, polyploid spermatozoaG a3Charcot-Marie-Tooth disease, demyelinating, type 4F# FHypotrichosis 64 o Deafness, autosomal recessive 995Zf!Cystinosis, adult nonnephropathic^ ]JMycobacterial and viral infections, susceptibility to, autosomal recessive/ pbNephrotic syndrome, type 21O j;Intellectual developmental disorder, autosomal recessive 741 @Hypotonia-cystinuria syndrome'|Dwarfism, Levi type< jp(Muscular dystrophy, limb-girdle, type 2Y0KTooth agenesis, selective, 4K a,7Immunodeficiency, common variable, 8, with autoimmunity, kBardet-Biedl syndrome 21%Lymphoma, hodgkinBF.Mesoaxial hexadactyly and cardiac malformation=)Mucopolysaccharidoses, unclassified types*dDonnai-Barrow syndrome< -(Athabaskan brainstem dysgenesis syndrome= j>)Lethal congenital contracture syndrome 10; b'Mitochondrial DNA depletion syndrome 11A t-Intellectual disability and myopathy syndrome, t~Spermatogenic failure 60N q3:Respiratory papillomatosis, juvenile recurrent, congenitalz mfNeurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, tSpermatogenic failure 647#Spinal muscular atrophy, X-linked 29 l%Auditory neuropathy and optic atrophy4 -* Deafness, autosomal recessive 12y (NeAutosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)+ ZGlioma susceptibility 3A b -Congenital disorder of glycosylation, type It6 d"Infantile liver failure syndrome 17#Endometriosis, susceptibility to, 1R;H:Visceral myopathy, familial, with external ophthalmoplegia> _@*Mental retardation, autosomal recessive 1657L!Mismatch repair cancer syndrome 1*hlDk phocomelia syndrome o Cataract 48= j_)Crisponi/cold-Induced sweating syndrome 3^ 0JNephropathy, progressive tubulointerstitial, with cholestatic liverdiseases o,_Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum; K'Fanconi anemia, complementation group IC g/Night blindness, congenital stationary, type 1G9 ](%Spastic ataxia 4, autosomal recessive` oLNeurodevelopmental disorder with microcephaly and structural brain anomalies\i HDwarfism, low-birth-weight type, with unresponsiveness to growth hormoneD m0Combined oxidative phosphorylation deficiency 34-Fingerprint body myopathy3 b>Focal facial dermal dysplasia 49%N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY/ a Auriculocondylar syndrome 24 / Deafness, autosomal recessive 158 t5$Immunodeficiency 87 and autoimmunity5]!Ventricular tachycardia, familial A ji-Epileptic encephalopathy, early infantile, 40Nv:Epiphyseal dysplasia of femoral head, myopia, and deafnessA h -Epileptic encephalopathy, early infantile, 50:&Ectodermal dysplasia with adrenal cyst26 El"Pontocerebellar hypoplasia type 1A+6T-SUBSTANCE ANOMALY''Anonychia congenita8 W$Osteopetrosis, autosomal recessive 7S?Hypogonadism, malehypogonadism and testicular atrophy, includedj YjVExocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosisCu/Epidermolysis bullosa with diaphragmatic hernia lqNeurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizuresZ҄FMetaphyseal modeling abnormality, skin lesions, and spastic paraplegia00Shwachman-Diamond syndrome 1C s/Microcephaly, epilepsy, and diabetes syndrome 2@(Supranuclear palsy, progressive atypical CƆ+Lymphoblastic transformation, inhibition ofR ]>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9n DZHypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degenerationO se;Megacystis-microcolon-intestinal hypoperistalsis syndrome 4R]>Split-Hand/foot malformation 1 with sensorineural hearing loss< k(Muscular dystrophy, limb-girdle, type 2ZB.Amyloidosis, hereditary, transthyretin-related }iHyperuricemia, infantile, with abnormal behavior and normal hypoxanthineguanine phosphoribosyltransferaseB Cs.Congenital disorder of glycosylation, type IIDI r5Neuropathy, hereditary motor, with myopathic features# C(Scheie syndromeOz;Megacystis-microcolon-intestinal hypoperistalsis syndrome 1Y nEEctodermal dysplasia 14, hair/tooth type with or without hypohidrosis' b:Joubert syndrome 20A n-Epileptic encephalopathy, early infantile, 68A u-Dworschak-Punetha neurodevelopmental syndrome( oURIDINE-CYTIDINEURIAA"-Acromesomelic dysplasia, Hunter-Thompson typeF2Visceral neuropathy, familial, autosomal recessive1 JzWaardenburg syndrome, type 2DL k8Aortic aneurysm, familial thoracic 11, susceptibility to 8 o$Hypoalphalipoproteinemia, primary, 2E M1Spastic paraplegia, optic atrophy, and neuropathy0 _Cranioectodermal dysplasia 4\2DGamma-Glutamylcysteine synthetase deficiency, hemolytic anemia duetoL n&8Humerofemoral hypoplasia with radiotibial ray deficiency, rSpermatogenic failure 53- mGalloway-Mowat syndrome 3^ [`JNight blindness, congenital stationary (complete), 1C, autosomal recessivej cVMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14A|-Ichthyosis, congenital, autosomal recessive 1&HYPOASCORBEMIA/Glucocorticoid deficiency 1  GALACTORRHEA] MwITalo-Patello-Scaphoid osteolysis, synovitis, and short fourth metacarpals[ hGSpastic tetraplegia, thin corpus callosum, and progressive microcephalyBCone-rod synaptic disorder syndrome, congenital nonprogressive9U%Craniosynostosis with fibular aplasias_Retinal degeneration with nanophthalmos, cystic macular degeneration,and angle closure glaucomaRw>Eyebrows, duplication of, with stretchable skin and syndactylyR j>Encephalopathy, progressive, with amyotrophy and optic atrophy/ CThyroid dyshormonogenesis 6:<&Carnitine deficiency, systemic primaryD r0Combined oxidative phosphorylation deficiency 48G fA3Breasts and/or nipples, aplasia or hypoplasia of, 2>/^*Dihydropyrimidine dehydrogenase deficiency`'LAniridia, partial, with unilateral renal agenesis and psychomotorretardationkWMitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathySI?Ciliary dyskinesia due to transposition of ciliary microtubules@(Cardiomyopathy, familial hypertrophic, 4 * VHypouricemia, renal, 2) I<Burn-Mckeown syndrome8 !$Wolfram syndrome, mitochondrial form! s Anencephaly 2AD^-Peroxisome biogenesis disorder 2A (Zellweger)F n2Mitochondrial complex I deficiency, nuclear type 32{Visceral steatosis, congenital' cEstrogen resistanceC:/Hypogonadotropic hypogonadism 7 without anosmia> b*Mental retardation, autosomal recessive 35B k.Congenital disorder of glycosylation, type IIq7Intrinsic factor deficiency J Z6Neuropathy, hereditary sensory and autonomic, type IIB. rOocyte maturation defect 9L p8Diencephalic-mesencephalic junction dysplasia syndrome 2^ rDJNeurodevelopmental disorder with microcephaly, seizures, and brain atrophyA IR-Lipodystrophy, congenital generalized, type 17k#Mitochondrial complex II deficiency t- Dystonia 31, c6Smith-Mccort dysplasia 2; 5K'Fanconi anemia, complementation group F# VgRiddle syndromeg gOS3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropeniaD m0Neurodegeneration with brain iron accumulation 7' KFoveal hypoplasia 2B i|.Congenital disorder of glycosylation, type IIO"Arima syndrome7 `#Coenzyme Q10 deficiency, primary, 3-pRothmund-Thomson syndromeD FO0Hypotrichosis-Lymphedema-Telangiectasia syndrome; qj'Diabetes mellitus, permanent neonatal 4)Zinc, elevated plasmalRXAdrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency9 )%Aminopterin syndrome sine aminopterin+ UHypomagnesemia 4, renal9 _,%Craniosynostosis and dental anomalies5 f!Macular dystrophy, vitelliform, 4 9 [i%Factor XIII, A subunit, deficiency of=q)Microphthalmia, isolated, with coloboma 4A *-Deafness, neurosensory, autosomal recessive 52 ZLymphoproliferative syndrome 1/ rHypercholanemia, familial 2+ gRetinitis pigmentosa 71<(Muscular dystrophy, limb-girdle, type 2H=@)Roussy-Levy hereditary areflexic dystasia " UySalih myopathyB J .Congenital disorder of glycosylation, type IIe= R)Phosphoserine aminotransferase deficiencyG o3Arthrogryposis multiplex congenita 3, myogenic typeI Mv5Short stature and facioauriculothoracic malformations< e(Morbid obesity and spermatogenic failure<2(Thyrotropin-Releasing hormone deficiency ]NoThiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)% <[Noonan syndrome 2r r^Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse faciesI l5Structural heart defects and renal anomalies syndrome2 mOrofaciodigital syndrome XVIIIEb1Deafness, neural, with atypical atopic dermatitisV aWBPulmonary fibrosis and/or bone marrow failure, telomere-related, 2 , pSpermatogenic failure 42< i{(Muscular dystrophy, limb-girdle, type 2W+ \Senior-Loken syndrome 7X ]$DMicrocephaly, postnatal progressive, with seizures and brain atrophy5 [!Hypermanganesemia with dystonia 1= u)Immunodeficiency 97 with autoinflammationB \.Congenital disorder of glycosylation, type IIiG o3Mitochondrial complex I deficiency, nuclear type 22F n2Mitochondrial complex I deficiency, nuclear type 94+ Tetraamelia, autosomal recessive: b&Ectodermal dysplasia 5, Hair/nail typeA n-Microcephaly 22, primary, autosomal recessiveX nMDPolycystic kidney disease 6 with or without polycystic liver disease $jRudiger syndromeA^-Gastroschisisabdominal wall defects, included' m'Joubert syndrome 33 d SARCOSINEMIA#"XTangier disease)XHYPER-BETA-ALANINEMIAZ `cFMental retardation, autosomal recessive 34, with variant lissencephalyG n3Glycosylphosphatidylinositol biosynthesis defect 17*[Hypouricemia, renal, 10Odontoonychodermal dysplasia2;Von willebrand disease, type 3L8Neuromyotonia and axonal neuropathy, autosomal recessive0 PAicardi-Goutieres syndrome 35!Peroxisome biogenesis disorder 2B/Glycogen storage disease IbG o 3Mitochondrial complex I deficiency, nuclear type 28, jSpermatogenic failure 17= f?)Familial dysalbuminemic hyperthyroxinemiaG qE3Rhizomelic limb shortening with dysmorphic featuresA a-Peroxisome biogenesis disorder 5A (Zellweger)> k6*Mental retardation, autosomal recessive 58O k;Short-Rib thoracic dysplasia 17 with or without polydactyly7Amyotrophic lateral sclerosis 1 I q5Mitochondrial complex III deficiency, nuclear type 10+ f0Bardet-Biedl syndrome 7?+Scapuloperoneal myopathy, X-linked dominant L a8Hypogonadotropic hypogonadism 13 with or without anosmiaA e-Epileptic encephalopathy, early infantile, 23He4Pyruvate dehydrogenase e3-binding protein deficiencyR [%>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3A fs-Microcephaly 13, primary, autosomal recessive3 feCiliary dyskinesia, primary, 30d uPNeurodevelopmental disorder with seizures, microcephaly, and brain abnormalities1'HMultiple sulfatase deficiency> e*Spastic paraplegia 64, autosomal recessive)eDiastrophic dysplasia, pSpermatogenic failure 39*Megaloblastic anemia 19N%Coloboma, ocular, autosomal recessive, dgCandidiasis, familial, 8D qg0Combined oxidative phosphorylation deficiency 44:D&Fructose-1,6-Bisphosphatase deficiencyDw0Factor V and factor VIII, combined deficiency of( .Cone-Rod dystrophy 6G r3Mitochondrial complex II deficiency, nuclear type 4N S:Intellectual developmental disorder, autosomal recessive 7E 01Cholestasis, progressive familial intrahepatic, 3+ ,kIron overload in africat `Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardationF,2Arterial calcification, generalized, of infancy, 1Q=Hemosiderosis, pulmonary, with deficiency of gamma-A globulin9!Larsen-like syndrome, Lethal type. sGlanzmann thrombasthenia 2/ *6UV-sensitive syndrome 1)!Spastic paraplegia 23= -%Short stature syndrome, Brussels type+ hxGlioma susceptibility 9 O n7Muscular dystrophy, limb-girdle, autosomal recessive 23 8 hz$Cerebrooculofacioskeletal syndrome 3$0Pendred syndrome2 uCarey-Fineman-Ziter syndrome 27 s(#Pontocerebellar hypoplasia, type 1F1ADe Sanctis-Cacchione syndrome0 OAicardi-Goutieres syndrome 2% bCowden syndrome 6 ??r+Cerebellar ataxia and neurosensory deafnessW՚CBand-Like calcification with simplified gyration and polymicrogyria$0Gilbert syndromeL hD8Emery-Dreifuss muscular dystrophy 3, autosomal recessive(Central core disease' `AJoubert syndrome 167#Pa polymorphism of alpha-2-globulin2 `Febrile seizures, familial, 11, nSpermatogenic failure 33F82Hydrocephalus, nonsyndromic, autosomal recessive 14 6 Deafness, autosomal recessive 145 a!Peroxisome biogenesis disorder 7B<ޠ(Muscular dystrophy, limb-girdle, type 2AP WgGaze palsy, familial horizontal, with progressive scoliosis, 14 B Cree mental retardation syndromeIun5Epidermolysis bullosa simplex with muscular dystrophyM \9Agenesis of the corpus callosum and congenital lymphedema/<`Weill-Marchesani syndrome 18$Hyperostosis corticalis generalisata.f Dicarboxylicamino aciduria2 gkLipoyltransferase 1 deficiencyP q L<*Spastic paraplegia 28, autosomal recessiveT X*@Bone fragility with contractures, arterial rupture, and deafnessS u?Peripheral motor neuropathy, childhood-onset, biotin-responsiveK c7Muscular dystrophy, limb-girdle, autosomal recessive 18S#y?Spinal muscular atrophy, type I, with congenital bone fractures& oLong QT syndrome 8 *0Retinoschisis of foveaB a.Peroxisome biogenesis disorder 10A (Zellweger): uR&Autoinflammatory-pancytopenia syndrome> dC*Spastic paraplegia 79, autosomal recessive# nHyperekplexia 4> cv*Mental retardation, autosomal recessive 369`%Infantile sialic acid storage disease(MYunis-Varon syndrome7 s.#Leukodystrophy, hypomyelinating, 21 -ALACRIMA) jAlazami-Yuan syndrome5 t_!Deafness, autosomal recessive 119H _?4Hyperphosphatasia with mental retardation syndrome 3_ ,KKDiaphragmatic defects, limb deficiencies, and ossification defects of skullR k>Immunoskeletal dysplasia with neurodevelopmental abnormalitiesQ /G=Lymphedema, cardiac septal defects, and characteristic facies4Oculorenocerebellar syndromeS b?Facial dysmorphism, immunodeficiency, livedo, and short stature( n^Ovarian dysgenesis 6, f3Bardet-Biedl syndrome 10= 6)Hypercholesterolemia, autosomal recessiveJ!6Amyotrophic lateral sclerosis with polyglucosan bodies> u*Attention deficit-hyperactivity disorder 89 e%Ataxia-Telangiectasia-Like disorder 2M =9Cardiomyopathy, dilated, with woolly hair and keratoderma/ kLopes-Maciel-Rodan syndrome(NEPHROSIALIDOSISD j0Myasthenic syndrome, congenital, 20, presynaptic= YT)Agammaglobulinemia 6, autosomal recessive,&Neuraminidase deficiency#HPycnodysostosis= W)Cardiomyopathy, familial hypertrophic, 11  H BRADYOPSIAK Q(7Hypoaldosteronism, congenital, due to CMO II deficiency(Septooptic dysplasia\ IpHMidface hypoplasia, obesity, developmental delay, and neonatal hypotonia- FHypercholanemia, familial, dzVan maldergem syndrome 2YbEMetachromatic leukodystrophy, adult-onset, with normal arylsulfatasea " 5Omenn syndrome; l|'Maleylacetoacetate isomerase deficiency= :)North american indian childhood cirrhosis; ='Myopathy, proximal, and ophthalmoplegiaO p;Intellectual developmental disorder, autosomal recessive 71f.RPineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesO r@;Neurodevelopmental disorder with seizures and brain atrophyIb15Deafness, sensorineural, Autosomal-Mitochondrial type: qX&Alopecia-mental retardation syndrome 4m s\YOnychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome4 d Deafness, autosomal recessive 88D N0Spondylocostal dysostosis 3, autosomal recessive7 r#Epilepsy, progressive myoclonic, 12. tStuve-Wiedemann syndrome 26"Polyhydramnios, chronic idiopathic+ _$Retinitis pigmentosa 61B`.Ophthalmoplegia totalis with ptosis and miosis:;&Rickets, vitamin D-resistant, type IIAD g0Combined oxidative phosphorylation deficiency 25. n Oocyte maturation defect 51 e)Renal hypodysplasia/aplasia 2'Immunodeficiency 48%Nathalie syndrome*lHyperlysinemia, type IA .j-Yemenite deaf-blind hypopigmentation syndrome, iYou-Hoover-Fong syndromeA h-Epileptic encephalopathy, early infantile, 35L{8Femur, unilateral bifid, with monodactylous ectrodactyly HYPERLEXIAC4/Beta-aminoisobutyric acid, urinary excretion of' eImmunodeficiency 20h sTNeurodevelopmental disorder with motor and speech delay and behavioral abnormalities, PKoolen-De Vries syndrome> _*Mental retardation, autosomal recessive 25e pQNeurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements] m#IShort stature, hearing loss, retinitis pigmentosa, and distinctive faciesJN6Pseudohermaphroditism, female, with skeletal anomalies%T Gapo syndromeA )AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF+ WMeckel syndrome, type 6S `e?Psychomotor retardation, epilepsy, and craniofacial dysmorphism5 a!Peroxisome biogenesis disorder 9B+Senior-Loken syndrome 1J r6Blistering, acantholytic, of oral and laryngeal mucosa uvNeurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophyO p;Intellectual developmental disorder, autosomal recessive 72$ o#Hypotrichosis 14N:Granulomatous disease with defect in neutrophil chemotaxisB a.Peroxisome biogenesis disorder 13A (Zellweger)B i.Spinocerebellar ataxia, autosomal recessive 21A (-Deafness, neurosensory, autosomal recessive 3,-Glanzmann thrombastheniaD ik0Combined oxidative phosphorylation deficiency 29( AKufor-Rakeb syndrome2 ^Complement factor D deficiency+ 2Retinitis pigmentosa 250 rPremature ovarian failure 18Q j=Dyskinesia, seizures, and intellectual developmental disorderb iaNHypotonia, infantile, with psychomotor retardation and characteristic facies 2% iISeckel syndrome 93Pyruvate carboxylase deficiency**Pellagra-Like syndromer j"^Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2B q.Combined oxidative phosphorylation defiency 46@%",Spondyloepimetaphyseal dysplasia, Irapa typeB a.Spinocerebellar ataxia, autosomal recessive 13< f(Palmoplantar keratoderma and woolly hair3tSpinal muscular atrophy, type I4~ Folate malabsorption, hereditaryA d4-Epileptic encephalopathy, early infantile, 183JCitrulline transport defect.Renal tubular acidosis IIIA ]Z-Epileptic encephalopathy, early infantile, 124 D Deafness, autosomal recessive 33+ ndPeeling skin syndrome 68$Adrenal hypoplasia, Cytomegalic typeCd/Micromelic bone dysplasia with cloverleaf skull: b&Ectodermal dysplasia 6, Hair/nail typefsRComplement hyperactivation, angiopathic thrombosis, and protein-losing enteropathyL8Charcot-Marie-Tooth disease with ptosis and parkinsonism+ Argininemia& 6Sickle cell anemia+ _%Retinitis pigmentosa 62V GaBPeriventricular heterotopia with microcephaly, autosomal recessiveP/| I*Ehlers-danlos syndrome, Beasley-Cohen type8 sF$Arthrogryposis multiplex congenita 6DU 0Craniometaphyseal dysplasia, autosomal recessive'= Ichthyosis vulgarisS.?Spondyloepiphyseal dysplasia with congenital joint dislocations# M Nanophthalmos 2F m2Hydrocephalus, congenital, 3, with brain anomalies/Acid phosphatase deficiency6 ^x"Nestor-Guillermo progeria syndrome? ue+Dentici-Novelli neurodevelopmental syndromel `XCraniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies;'Allergic bronchopulmonary aspergillosis , mSpermatogenic failure 27G f3ACTH-independent macronodular adrenal hyperplasia 2 7 i#Myasthenic syndrome, congenital, 193$Short-rib thoracic dysplasia 12A oX-Epileptic encephalopathy, early infantile, 71O k;Intellectual developmental disorder, autosomal recessive 60. `]Wiskott-Aldrich syndrome 2' ULong QT syndrome 10 A W-Ichthyosis, congenital, autosomal recessive 6( _Ovarian dysgenesis 3+ hrRetinitis pigmentosa 74-Scalp-Ear-Nipple syndrome2= s)Cardiomyopathy, familial hypertrophic, 28 _KHypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included# _]Hypotrichosis 95 eF!Moyamoya disease 6 with achalasiaN:Respiratory underresponsiveness to hypoxia and hypercapniaM Vb9Ventricular tachycardia, catecholaminergic polymorphic, 2D d0Combined oxidative phosphorylation deficiency 17(Prune belly syndrome4 ( Nivelon-Nivelon-Mabille syndrome,+173470 integrin, beta-35!Sarcoidosis, susceptibility to, 1 H l0Combined oxidative phosphorylation deficiency 33 > i*Spastic paraplegia 76, autosomal recessive> e*Spastic paraplegia 63, autosomal recessiveK 87Spinal muscular atrophy, distal, autosomal recessive, 1D e0Cholestasis, progressive familial intrahepatic 4&ʾMannosidosis, betal oQXEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2K t.7Muscular dystrophy, limb-girdle, autosomal recessive 27bNRod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction3 jCiliary dyskinesia, primary, 35&pBjornstad syndrome4 gN Amelogenesis imperfecta, type IF9%Lipoid congenital adrenal hyperplasiaD:0Oculodentodigital dysplasia, autosomal recessive, jSpermatogenic failure 16+ ^FSpermatogenic failure 9No:Hypophosphatemia, renal, with intracerebral calcificationsG n3Mitochondrial complex I deficiency, nuclear type 103 Y)Ciliary dyskinesia, primary, 11; Y'Leukocyte adhesion deficiency, type IIIQ q=Hyper-IgE recurrent infection syndrome 5, autosomal recessive^JUridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to7 X#Myopathy, congenital, compton-northf8RBladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT=;)Ataxia with isolated vitamin E deficiency1XGaucher disease, type III m o4YNeurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia  GALACTOSEMIA#BMulibrey nanismA V-Congenital disorder of glycosylation, type IN- bBrachydactyly, type A1, CJ em6Short stature with microcephaly and distinctive facies# `Hyperekplexia 26 (O"Ceroid lipofuscinosis, neuronal, 89a<%Deafness, neural, congenital moderateF u\2Cholestasis, progressive familial intrahepatic, 10'Friedreich ataxia 1G3Hepatic venoocclusive disease with immunodeficiency3 h!Ciliary dyskinesia, primary, 32- gSpinocerebellar ataxia 41 H e4Mitochondrial complex III deficiency, nuclear type 72 KHyperthyroidism, nonautoimmune= gZ)Spastic paraplegia 73, autosomal dominant /Erythrocytosis, familial, 2H e4Melanoma, cutaneous malignant, susceptibility to, 10 Y _EMyopathy, areflexia, respiratory distress, and dysphagia, early-onset5 o!Deafness, autosomal recessive 112$ riCOACH syndrome 3) qeAnauxetic dysplasia 34 FD Craniolenticulosutural dysplasia-\Cylindromatosis, familial L9T8Ulna and fibula, absence of, with severe limb deficiency= \~)Agammaglobulinemia 4, autosomal recessiveT@Dystonia, DOPA-responsive, with or without hyperphenylalaninemia= ])Cardiomyopathy, familial hypertrophic, 20 4 \M Deafness, autosomal recessive 91$RKindler syndrome@ u,Epidermolysis bullosa, junctional 2B, severe= X6)Dystonia 17, torsion, autosomal recessive5 f&!Deafness, autosomal recessive 102G3Multicentric osteolysis, nodulosis, and arthropathyG r,3Mitochondrial complex IV deficiency, nuclear type 806Palant cleft palate syndrome%*Anus, imperforate)<Urbach-Wiethe disease5 l!Epiphyseal dysplasia, multiple, 7E Z1Macrocephaly, alopecia, cutis laxa, and scoliosisR j>Arthrogryposis, distal, with impaired proprioception and touch'Immunodeficiency 43D d0Neurodegeneration with brain iron accumulation 6/zLipase deficiency, combined0nRosselli-Gulienetti syndromeI i5Parkinson disease 23, autosomal recessive early-onsetH r54Mitochondrial complex IV deficiency, nuclear type 174 c Albinism, oculocutaneous, type V6"Myopathy, congenital, bailey-bloch+ ]Retinitis pigmentosa 458 _9$Bleeding disorder, platelet-type, 11, ;qBrooke-Spiegler syndrome xURdCraniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosisB ^c.Dyskeratosis congenita, autosomal recessive, 2F$2Spondyloepimetaphyseal dysplasia, Sponastrime type,;Campomelia, Cumming typeC f/Macular dystrophy with central cone involvement\k2DCerebellar ataxia, mental retardation, and dysequilibrium syndrome 1H;4Methylmalonic aciduria and homocystinuria, Cblf type*DUBIN-JOHNSON syndrome= t)Agammaglobulinemia 9, autosomal recessiveH dV4Alacrima, achalasia, and mental retardation syndromee qQNeurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia1 [Waardenburg syndrome, type 4BZ qnFNeurodevelopmental disorder with hypotonia, microcephaly, and seizuresV ojBMicrocephaly, growth deficiency, seizures, and brain malformations5h!Protoporphyria, erythropoietic, 1A o-Epileptic encephalopathy, early infantile, 76@,3-Hydroxyisobutyryl-Coa hydrolase deficiency, sSpermatogenic failure 56; l'Joint laxity, short stature, and myopiaI _5Platelet-Activating factor acetylhydrolase deficiencyx m\dNeurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveG3Myoglobinuria, acute recurrent, autosomal recessive4 Y% Deafness, autosomal recessive 1B8$Immunodeficiency 59 and hypoglycemiaV [TBMuscular dystrophy, congenital, due to integrin alpha-7 deficiency4 3 Deafness, autosomal recessive 13#RBehcet syndrome5 L!Filaminopathy, autosomal dominant <W(Cutis laxa, autosomal recessive, type IAT&@Angiomatosis, diffuse corticomeningeal, of divry and van bogaert/ _Hermansky-Pudlak syndrome 9:&Frontonasal dysplasia with alar cleftsT n@Inflammatory bowel disease, immunodeficiency, and encephalopathy&Netherton syndrome& LAl-Gazali syndromeN _:Myopia, high, with cataract and vitreoretinal degeneration5 -!Peroxisome biogenesis disorder 1B#GHyperekplexia 1/*Navajo neurohepatopathy O t;Intellectual developmental disorder, autosomal recessive 735?6Premature centromere division<(Nemaline myopathy 2, autosomal recessive>X*Cutis laxa, autosomal recessive, type IIIA^'FAnhidrosis, familial generalized, with abnormal or absent sweat glandsB l.Spinocerebellar ataxia, autosomal recessive 263 v Intestinal dysmotility syndromeB@.Xeroderma pigmentosum, complementation group DL ,'8Fallot complex with severe mental and growth retardation> _*Mental retardation, autosomal recessive 239 .%Spastic paraplegia and Evans syndrome$'SULFOCYSTEINURIAA.-Asthma, nasal polyps, and aspirin intolerance3 oCiliary dyskinesia, primary, 41" 'Eiken syndrome' `Joubert syndrome 17Z oFGonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathyb \^NHemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency/ UCardiomyopathy, dilated, 1X-Mckusick-Kaufman syndromeFP2Mandibulofacial dysostosis with mental retardation. r{Osteogenesis imperfecta 21I q5Neurodegeneration, infantile-onset, biotin-responsiveQ e=Polyglucosan body myopathy 1 with or without immunodeficiency+mMeier-Gorlin syndrome 1/ m7Nephrotic syndrome, type 163 c:Polydactyly, postaxial, type A6G n3Mitochondrial complex I deficiency, nuclear type 11H&0Sucrosuria, hiatus hernia and mental retardation' lqImmunodeficiency 538 c$Osteosclerotic metaphyseal dysplasia%Pancreatic cancer + m5Retinitis pigmentosa 80} -qiSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive/ gcLichtenstein-Knorr syndrome;8'Mucus inspissation of respiratory tract1 ]Leber congenital amaurosis 15P#CWoolly hair, hypotrichosis, everted lower lip, and outstanding ears< nD(Cardiomyopathy, familial hypertrophic 27, +Achondrogenesis, type IB.~`Flaujeac factor deficiency4 ^ Deafness, autosomal recessive 89E s1Cholestasis, progressive familial intrahepatic, 6C i/Dyskinesia, limb and orofacial, infantile-onset< k(Ectodermal dysplasia 13, Hair/tooth type)OsteochondrodysplasiaA bn-Ichthyosis, congenital, autosomal recessive 7<(Megalocornea-Mental retardation syndrome@ Y,Interleukin 1 receptor antagonist deficiency- omGalloway-Mowat syndrome 8= \})Agammaglobulinemia 3, autosomal recessive9<%Cardioskeletal syndrome, Kuwaiti type"Krabbe diseasec~BOFibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly+ edRetinitis pigmentosa 69[ j~GEncephalopathy due to defective mitochondrial and peroxisomal fission 2v`bDeafness, nerve type, with mesenteric diverticula of small bowel andprogressive sensory neuropathy8 ; Cortisone reductase deficiency 1 H qG4Myopathy, congenital proximal, with minicore lesions3 iCiliary dyskinesia, primary, 33 tu Dystonia 32H44Acheiropody acheiropodia acheiropody, Brazilian type7#Isovaleric acid, inability to smell.pEllis-Van creveld syndromeI `5Neuropathy, hereditary sensory and autonomic, type VI6"Leukodystrophy, hypomyelinating, 3b 1NSkeletal dysplasia and progressive central nervous system degeneration, lethalj gVMyasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiencyCu/Epidermolysis bullosa, junctional, Herlitz type' tImmunodeficiency 95:&Isotretinoin embryopathy-like syndrome_ uKNeurodevelopmental disorder with speech delay and variable ocular anomalies&GLUTATHIONURIAa lMEncephalopathy, neonatal severe, with lactic acidosis and brain abnormalities5RMacular dystrophy, corneal, 1L p8Hemolytic anemia due to glutathione reductase deficiency, mSpermatogenic failure 26W ^CImmunodeficiency-Centromeric instability-facial anomalies syndrome24 \ Deafness, autosomal recessive 85N [:Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki typeM u)9Epidermolysis bullosa, junctional 6, with pyloric atresia;L'Cleft palate, deafness, and oligodontia1 pLeber congenital amaurosis 19D l0Combined oxidative phosphorylation deficiency 32L i8Spinal muscular atrophy with congenital bone fractures 2: Pv&Alopecia-Mental retardation syndrome 2- ttAcromesomelic dysplasia 4h rqTNeurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities7 i#Coenzyme Q10 deficiency, primary, 8P t` \*Ectodermal dysplasia-syndactyly syndrome 2T(Dimethylglycine dehydrogenase deficiencyT .i@T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY$Fish-Eye disease, f8Bardet-Biedl syndrome 15p t\Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism5 rY!Mismatch repair cancer syndrome 3, mSpermatogenic failure 25%̨Meckel syndrome 1'YCysteine peptiduriai%USpondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures> _*Mental retardation, autosomal recessive 279 ,%Neuronal intestinal dysplasia, type B6 f"Leukodystrophy, hypomyelinating, 9, f<Bardet-Biedl syndrome 19H r44Mitochondrial complex IV deficiency, nuclear type 16R Neuropathy, congenital hypomyelinating, 1, autosomal recessive3 qCiliary dyskinesia, primary, 44Q M=Obesity, early-onset, with adrenal insufficiency and red hair9 eH%Polymicrogyria, bilateral perisylvian+ tBoudin-Mortier syndromeA a-Peroxisome biogenesis disorder 8A (Zellweger)+ c&Card11 immunodeficiency+ puRetinitis pigmentosa 86PՐ ^*Spastic paraplegia 52, autosomal recessive+ FPeeling skin syndrome 43?,Cenani-Lenz syndactyly syndrome2 \Von willebrand disease, type 2H h54Mitochondrial complex IV deficiency, nuclear type 139 qo%Retinal dystrophy with leukodystrophyy -eFacial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebsZ -FEctrodactyly of lower limbs, congenital heart defect, and micrognathia(5JSitosterolemia 1 2&NSubaortic stenosis, membranous` cqLHypomyelination with brainstem and spinal cord involvement and legspasticity' rLi-Campeau syndrome9%Diarrhea 2, with microvillous atrophy3 AAmyotrophic lateral sclerosis 3 #Sclerosteosis 1R p>Cortical dysplasia, complex, with other brain malformations 10N>F:Optic disc anomalies with retinal and/or macular dystrophy; 2'Acromesomelic dysplasia, Maroteaux typeA ZU-Epileptic encephalopathy, early infantile, 39< ,(Muscular dystrophy, limb-girdle, type 2F+ ]Meier-Gorlin syndrome 2(TOvarian dysgenesis 1B c.Combined d-2- and l-2-hydroxyglutaric aciduria*Fructosuria, essential70#Atonic-Astatic syndrome of foerster' sMartsolf syndrome 2+ f/Bardet-Biedl syndrome 5@ `$,Charcot-Marie-Tooth disease, axonal, type 2P+;|Hypophosphatasia, adultU d/AMitochondrial DNA depletion syndrome 13 (encephalomyopathic type)G o3Mitochondrial complex I deficiency, nuclear type 18; s'Cardiomyopathy, familial restrictive, 6/ OSenior-Loken syndrome 6M `b9Rigidity and multifocal seizure syndrome, lethal neonatal, dWarburg micro syndrome 48$Porphyria, congenital erythropoietic2Jumping frenchman of maineA g-Epileptic encephalopathy, early infantile, 28b B4NMental retardation, obesity, mandibular prognathism, and eye and skinanomaliesDb60Deafness, sensorineural, with pituitary dwarfism+ pLessel-Kubisch syndromeN:Osteodysplasty, precocious, of danks, mayne, and kozlowskiA m-Epileptic encephalopathy, early infantile, 61/ cARetinitis pigmentosa 66 _ oKNeurodevelopmental disorder with impaired speech and hyperkinetic movements.Phenformin 4-hydroxylation4 \ Hyperoxaluria, primary, type IIIU J)ALeukoencephalopathy, arthritis, colitis, and hypogammaglobulinemaG r+3Mitochondrial complex IV deficiency, nuclear type 7. cLNephrotic syndrome, type 8>6*Histidinuria due to A renal tubular defect- nOrthostatic hypotension 2+ W Oculoauricular syndrome) I7Sick sinus syndrome 1& TJoubert syndrome 7^ - JChondrodysplasia, lethal, with long bone angulation and mixed bone density^ 5GJHypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss$ KPierson syndrome5!D-bifunctional protein deficiency#Z4Cystic fibrosis> _*Mental retardation, autosomal recessive 19? m+Amyloidosis, primary localized cutaneous, 39%Intracranial hypertension, idiopathic4 O Deafness, autosomal recessive 5998%Onychotrichodysplasia and neutropenia# C&Hurler syndrome5 fj!Deafness, autosomal recessive 103S;?VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1A b-Microcephaly 10, primary, autosomal recessive' sMahvash disease N`:Short-Rib thoracic dysplasia 6 with or without polydactyly=~)Achalasia-Addisonianism-Alacrima syndrome7#Freesia flowers, inability to smellE"1Spastic paresis, glaucoma, and mental retardation. jHypercalcemia, infantile 22 rOculomotor-abducens synkinesis/SCramps, familial adolescent3 rOocyte maturation defect 10 , gCandidiasis, familial, 98`$Hyperparathyroidism, neonatal severe7 n#Leukodystrophy, hypomyelinating, 170wFaciothoracogenital syndromeG3Hypoparathyroidism-Retardation-Dysmorphism syndromeR U>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4C Qv/Combined oxidative phosphorylation deficiency 46 j"Heterotaxy, visceral, 8, autosomal0kDysmyelination with jaundice?Ѽ'Metaphyseal chondrodysplasia, Pena type;.'Asthma, short stature, and elevated iga8 M$Thyroid hormone metabolism, abnormal jsLanguage delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia, r^Spermatogenic failure 47' dImmunodeficiency 16X3jDAural atresia, multiple congenital anomalies, and mental retardationZ LFMental retardation, keratoconus, febrile seizures, and sinoatrialblock< 8~(Muscular dystrophy, limb-girdle, type 2EQs4=Endocardial fibroelastosis and coarctation of abdominal aortaF n2Mitochondrial complex I deficiency, nuclear type 6R ft>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7D0Myopathy with exercise intolerance, Swedish type: A&GLYCINE N-METHYLTRANSFERASE DEFICIENCYP 1kGlycine encephalopathyB 5.Congenital disorder of glycosylation, type IIfT \@Disordered steroidogenesis due to cytochrome P450 oxidoreductaseG n3Mitochondrial complex I deficiency, nuclear type 15G t3Charcot-Marie-Tooth disease, demyelinating, type 1H - olGalloway-Mowat syndrome 7,p ECTRODACTYLY-POLYDACTYLY7|0#Fever, familial lifelong persistent- ISpinocerebellar ataxia 20 7 nA#Parkinsonism-Dystonia, infantile, 2{ q-gNeurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation7 `#Coenzyme Q10 deficiency, primary, 50 rPremature ovarian failure 19NΜ:Intellectual developmental disorder, autosomal recessive 1= D)Cardiomyopathy, familial hypertrophic, 25 "8Short syndrome + kXRetinitis pigmentosa 77= s)Immunodeficiency 14B, autosomal recessiveF i2Split-Foot malformation with mesoaxial polydactylyA 1-Congenital disorder of glycosylation, type Ibi [#UMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1-Amyloidosis, Finnish type < Z(Nijmegen breakage syndrome-like disorder+ ]Meier-Gorlin syndrome 3H ^H4Chronic granulomatous disease 3, autosomal recessiveB.Anhidrosis, isolated, with normal sweat glands7 r?#Leukodystrophy, hypomyelinating, 20,lRichards-Rundle syndrome-zFarber lipogranulomatosis#German syndrome+~~Fleck retina of kandori, tSpermatogenic failure 61:"Alpha-2-deficient collagen disease2 RComplement factor I deficiency+ kRetinitis pigmentosa 789 %Pulmonary bullae causing pneumothoraxi vUDevelopmental delay with short stature, dysmorphic facial features, and sparse hair 2' ^AImmunodeficiency 51< En(Lethal congenital contracture syndrome 20 bMyoclonus, familial cortical F j=2Hydrops, lactic acidosis, and sideroblastic anemia; j0'Cerebral palsy, spastic quadriplegic, 37 `#Coenzyme Q10 deficiency, primary, 6@@,Microcephaly, primary autosomal recessive, 19;%Hypoparathyroidism, familial isolatedMX9Lymphoblastic leukemia, acute, with lymphomatous featuresi qUNeurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities@ a,Microcephaly 9, primary, autosomal recessiveG33Trichoodontoonychial dysplasia with bone deficiency0YCyanosis and hepatic disease6 ,"Supranuclear palsy, progressive, 1 "PCornea plana 27 .N#Bartter syndrome, type 1, antenatal6 h#"Infantile liver failure syndrome 2/ *^Varicella, severe recurrent < CARNOSINEMIA1 kgAnterior segment dysgenesis 89%Renal dysplasia-limb defects syndrome'DHoloprosencephaly 13 nOCiliary dyskinesia, primary, 38`LHypertrichosis terminalis, generalized, with or without gingival hyperplasia3 rEndove syndrome, Limb-Only type< 5(Spastic paraplegia 8, autosomal dominant \ JHDeafness, autosomal recessive 36, with or without vestibular involvementG /Ceroid lipofuscinosis, neuronal, 6B (Kufs type) w EcLeukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadismL u8Immunodeficiency 106, susceptibility to viral infections5 ]/!Congenital prothrombin deficiency2Mucopolysaccharidosis, type VI' NImmunodeficiency 540 l[Orofaciodigital syndrome XVIW ZI?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 g +SIchthyosis-Mental retardation syndrome with large keratohyalin granules in the skin= aU)Mitochondrial pyruvate carrier deficiency6Myeloperoxidase deficiency >N*Lymphoid system deterioration, progressiveG r3Mitochondrial complex II deficiency, nuclear type 37 X%#Pontocerebellar hypoplasia, type 2B8 b$Osteopetrosis, autosomal recessive 8d ZSPMicrocephaly, growth retardation, cataract, hearing loss, and unusual appearance4 C? Deafness, autosomal recessive 22.IBoucher-Neuhauser syndrome+ ]Retinitis pigmentosa 44VBCarbamoyl phosphate synthetase I deficiency, hyperammonemia due to, _QWarburg micro syndrome 26 h;"Osteogenesis imperfecta, type XVIIT*@Teeth, noneruption of, with maxillary hypoplasia and genu valgum19Sabinas brittle hair syndromeL i8Spinal muscular atrophy with congenital bone fractures 1M `R9Congenital cataracts, hearing loss, and neurodegenerationE g1Myasthenic syndrome, congenital, 4B, fast-channelkLymphopenic hypergammaglobulinemia, antibody deficiency, autoimmunehemolytic anemia, and glomerulonephritisX c3DHydrocephalus, congenital, 2, with or without brain or eye anomalies)@Cerebellar hypoplasia6 XU"Epilepsy, progressive myoclonic 1BV"fBSpastic quadriplegia, retinitis pigmentosa, and mental retardation2 O,Microphthalmia with coloboma 39&:%Striatonigral degeneration, infantileN _:Short-Rib thoracic dysplasia 5 with or without polydactyly# cLissencephaly 5. ZMetaphyseal anadysplasia 2^ZJOptic atrophy, hearing loss, and peripheral neuropathy, autosomalrecessive< g^(Lethal congenital contracture syndrome 7:&Methylmalonyl-Coa epimerase deficiency* C'Hurler-Scheie syndromeR c>Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)G o 3Mitochondrial complex I deficiency, nuclear type 33O gl;Short-Rib thoracic dysplasia 13 with or without polydactylyu DaThiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)' jFMyopathy, distal, 54 Amelogenesis imperfecta, type IE0Chondrodysplasia, Grebe typeG ZW3Leukoencephalopathy, cystic, without megalencephaly"oLEctopia lentisH b4Mitochondrial complex III deficiency, nuclear type 3) 'SPONDYLOCAMPTODACTYLYA G-Spinocerebellar ataxia, autosomal recessive 63 oCiliary dyskinesia, primary, 39> _*Amyotrophic lateral sclerosis 16, juvenileaSIALURIAI n5Muscular dystrophy, limb-girdle, autosomal dominant 4 EͶ1Thiamine-Responsive megaloblastic anemia syndromeU n#ARhizomelic skeletal dysplasia with or without Pelger-Huet anomalyo ,WAlopecia-Mental retardation syndrome with convulsions and hypergonadotropichypogonadism\0HMuscular dystrophy, congenital, with infantile cataract and hypogonadism3mSchopf-Schulz-Passarge syndrome*-LThoracomelic dysplasia4 9 Bare lymphocyte syndrome, type I+ jRetinitis pigmentosa 76$Donohue syndrome> g*Basal ganglia calcification, idiopathic, 6 O u;Neurodevelopmental disorder with language delay and seizure- ASpinocerebellar ataxia 15 = ZL)Cutis laxa, autosomal recessive, type IIBJ q]6Vertebral, cardiac, renal, and limb defects syndrome 3/ \Glycogen storage disease XV8 -o$Charcot-Marie-Tooth disease, type 4DC fF/Hennekam lymphangiectasia-lymphedema syndrome 2@ FW,Charcot-Marie-Tooth disease, axonal, type 2K? _y+Combined malonic and methylmalonic aciduria3 oHydatidiform mole, recurrent, 3+ aUsher syndrome, type IJF ub2Cholestasis, progressive familial intrahepatic, 11e lQPlatelet abnormalities with eosinophilia and immune-mediated inflammatory diseaseJ o6Cerebellar, ocular, craniofacial, and genital syndromeB@.Xeroderma pigmentosum, complementation group Cy qeMuscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, tSpermatogenic failure 63M-z9Camptodactyly-Arthropathy-Coxa vara-pericarditis syndromeE pR1Myopathy, congenital, progressive, with scoliosis' `@Joubert syndrome 15#jHMotion sicknessB2*Hypothyroidism, congenital, nongoitrous, 4F k2Amelogenesis imperfecta, hypomaturation type, IIA6K il7Muscular dystrophy, limb-girdle, autosomal recessive 25;y='Fanconi anemia, complementation group C< _(Alpha-methylacyl-CoA racemase deficiency< (Metaphyseal chondrodysplasia, Spahr typer i^Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to 1 tMucopolysaccharidosis, type XQ =Acanthosis nigricans with muscle cramps and acral enlargementU qvASkeletal dysplasia, mild, with joint laxity and advanced bone age, VyStevenson-Carey syndrome::&Right ventricular hypoplasia, isolated, f6Bardet-Biedl syndrome 13%HYDROXYPROLINEMIAG[3Mitochondrial complex IV deficiency, nuclear type 1' aImmunodeficiency 30+ _KAdams-Oliver syndrome 27 e#Pontocerebellar hypoplasia, type 2E(nFraser-Like syndrome8v$Panencephalitis, subacute sclerosing. j,Polycystic liver disease 2 &(Tardive dyskinesia*Smith-Magenis syndrome > r*Spastic paraplegia 83, autosomal recessive,~Polymyoclonus, infantileJ jj6Muscular dystrophy, congenital, Davignon-Chauveau type7 D#Coenzyme Q10 deficiency, primary, 1F#2Spinocerebellar degeneration and corneal dystrophy? -i+Deafness, progressive, with stapes fixationC P/Combined oxidative phosphorylation deficiency 2i [$UMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 28[$Leigh syndrome, french Canadian typeJ 9D6Neuropathy, hereditary motor and sensory, Okinawa type A k-Epileptic encephalopathy, early infantile, 52: )`"Muscular dystrophy, scapulohumeral> e*Spastic paraplegia 62, autosomal recessiveD ]60Spondylocostal dysostosis 4, autosomal recessiveI s5Visceral neuropathy, familial, 2, autosomal recessive7 @#Primary lateral sclerosis, juvenileL a8Hypogonadotropic hypogonadism 11 with or without anosmia0Gerstmann-Straussler disease \ aHMicrocephaly, short stature, and polymicrogyria with or without seizures' LNemaline myopathy 1@ ],Immunodeficiency due to ficolin 3 deficiencyI p5Short stature and microcephaly with genital anomaliesb uNNeurodevelopmental disorder with spasticity, seizures, and brain abnormalitiesM ^9Ventricular tachycardia, catecholaminergic polymorphic, 3/ ^Hermansky-Pudlak syndrome 5H m4Amyotrophic lateral sclerosis, susceptibility to, 25 / nNephrotic syndrome, type 17* ^Trypsinogen deficiency4 O Deafness, autosomal recessive 678 s$Hypokalemic tubulopathy and deafness4 d Asparagine synthetase deficiencyB s.Spinocerebellar ataxia, autosomal recessive 31>3*Hypothyroidism, congenital, nongoitrous, 1J Ch646XY gonadal dysgenesis with minifascicular neuropathy; Gj'Immunodeficiency with hyper-igm, type 5/>Cataract 46, juvenile-onset#&Canavan disease; G'Immunodeficiency with hyper-IgM, type 4W oM?Basal ganglia calcification, idiopathic, 7, autosomal recessive , XGPrekallikrein deficiency3 [ICiliary dyskinesia, primary, 13/ =Cardiomyopathy, dilated, 1K G q3Mitochondrial complex I deficiency, nuclear type 34A d-Congenital disorder of glycosylation, type Ix@ 9R,Amegakaryocytic thrombocytopenia, congenitalo q[Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures/ lgNephrotic syndrome, type 14.Glycogen storage disease V/ UCombined saposin deficiency8 0$Spondylometaphyseal dysplasia, axial@ Y,Growth hormone deficiency, isolated, type IB$hDuodenal atresia4 M Deafness, autosomal recessive 53? k+Thrombocytopenia, anemia, and myelofibrosisU$AAnemia, sideroblastic, pyridoxine-responsive, autosomal recessive% ,cGurrieri syndromeF .2Ehlers-Danlos syndrome, musculocontractural type 1, jBardet-Biedl syndrome 22F a2Amelogenesis imperfecta, hypomaturation type, iia4- NAminoacylase 1 deficiencyb ]bNHemorrhagic destruction of the brain, subependymal calcification,and cataractsn l7ZNeurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomaliesh ggTPeeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads'(Rapadilino syndromeA :i-Ichthyosis, congenital, autosomal recessive 5% aHSeckel syndrome 64 Cl Deafness, autosomal recessive 31-Schneckenbecken dysplasia0 \Cranioectodermal dysplasia 2+ f2Bardet-Biedl syndrome 98 ^$Focal segmental glomerulosclerosis 64 o Deafness, autosomal recessive 947 d#Episodic pain syndrome, familial, 2 ] p^INeurodevelopmental disorder with brain anomalies, seizures, and scoliosis= b)Microphthalmia, isolated, with coloboma 9)Acetylation, slowA F-Congenital disorder of glycosylation, type IiW jCCharcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.Uncombable hair syndrome 1#Keutel syndrome+ iPaget disease of bone 6 & k%Seckel syndrome 10, oSpermatogenic failure 38< h7(Lethal congenital contracture syndrome 94 \ Deafness, autosomal recessive 849 S%Spastic ataxia 2, autosomal recessive z Trichomegaly- tSGalloway-Mowat syndrome 9HJ4Cleft larynx, posteriorstridor, congenital, included) kAnauxetic dysplasia 2& ]Nephronophthisis 9' fImmunodeficiency 37/TMICROCEPHALY-CARDIOMYOPATHY+ gIPeeling skin syndrome 3> S#*Mental retardation, autosomal recessive, 4l jXEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1F n2Mitochondrial complex I deficiency, nuclear type 5H r74Mitochondrial complex IV deficiency, nuclear type 19, tSpermatogenic failure 573$Splenoportal vascular anomaliesQ n=Cortical dysplasia, complex, with other brain malformations 9- [Spinocerebellar ataxia 30 A Q-Congenital disorder of glycosylation, type Im/GM1-gangliosidosis, type II3 ]Osteogenesis imperfecta, type XA [-Lipodystrophy, congenital generalized, type 4D g0Hypomagnesemia, seizures, and mental retardation4 kQ Amelogenesis imperfecta, type IJ= a)Cardiomyopathy, familial hypertrophic, 21 "Raine syndrome; ch'Fanconi anemia, complementation group QC Iz/Neuronopathy, distal hereditary motor, type IIB 4 a Deafness, autosomal recessive 98>B`*Basal ganglia calcification, idiopathic, 1 8n$Mesomelic limb shortening and bowingR J :Sudden infant death with dysgenesis of the testes syndrome, `Preeclampsia/eclampsia 5 7 u#Pontocerebellar hypoplasia, type 17A n-Microcephaly 23, primary, autosomal recessive$ pSiddiqi syndrome8\$Jervell and Lange-Nielsen syndrome 1@W,Pituitary adenoma 4, ACTH-secreting, somatic3 bCiliary dyskinesia, primary, 19>6*Dyggve-Melchior-Clausen syndrome, X-linked7 k#Cone-rod dystrophy and hearing loss-,Argininosuccinic aciduriaHr4Keratoderma, palmoplantar, norrbotten Recessive type+ WERetinitis pigmentosa 29> i*Mental retardation, autosomal recessive 53. bMicrophthalmia, isolated 8, -.Van maldergem syndrome 1a mJMNeurodevelopmental disorder with microcephaly, seizures, and cortical atrophyR `r>Thrombophilia due to protein S deficiency, autosomal recessive3 -^*Rhizomelic dysplasia, Patterson-Lowry typeE d1Autoimmune lymphoproliferative syndrome, type IIIJ e6Leukoencephalopathy, progressive, with ovarian failure%jCowden syndrome 1 Y oESpinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3' iPJoubert syndrome 269 `W%Spastic ataxia 5, autosomal recessiveH `4Leukoencephalopathy, brain calcifications, and cysts8 <$Segawa syndrome, autosomal recessive@/,Thyroid hormonogenesis, genetic defect in, 1-$Glaucoma 1, open angle, P 2BCerebrotendinous xanthomatosis7PConotruncal heart malformations:#`&Spinal muscular atrophy, Ryukyuan type' dJoubert syndrome 22,Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency0 ,ITrisomy 18-like syndromeO f;Intellectual developmental disorder, autosomal recessive 44' KKanzaki disease , f;Bardet-Biedl syndrome 182Peroneal nerve, accessory deep" Z93-M syndrome 20Periodontitis, aggressive, 14 b Deafness, autosomal recessive 70L s8Ondontochondrodysplasia 2 with hearing loss and diabetesW _PCRetinal arterial macroaneurysm with supravalvular pulmonic stenosisI U5Krabbe disease, atypical, due to saposin A deficiency+ XRetinitis pigmentosa 46E dW1Myopathy due to myoadenylate deaminase deficiencyj oVIntellectual developmental disorder with short stature and variable skeletal anomaliesU sANeurodevelopmental disorder with seizures and brain abnormalities@ h,Charcot-Marie-Tooth disease, axonal, type 2X3 eCiliary dyskinesia, primary, 29>j*3-Hydroxyacyl-Coa dehydrogenase deficiency+ uERetinitis pigmentosa 93$'Summitt syndrome5 a!Peroxisome biogenesis disorder 4BA mH-Microcephaly 19, primary, autosomal recessive#SACCHAROPINURIA' >|Nonaka myopathy BD.Ichthyosis, congenital, autosomal recessive 4B<l(Facioscapulohumeral muscular dystrophy 2 B ^d.Dyskeratosis congenita, autosomal recessive, 36 _"Complement component 4A deficiencyC/Lecithin:cholesterol acyltransferase deficiency> du*Mental retardation, autosomal recessive 39N d":Microcornea, myopic chorioretinal atrophy, and telecanthusN-6Arthrogryposis multiplex congenita with whistling faceE t1Biliary, renal, neurologic, and skeletal syndrome. +Nephrotic syndrome, type 2@kCerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndrome:n&Red skin pigment anomaly of new guinea"yBFanconi anemiaA c-Dyskeratosis congenita, autosomal recessive 5, f7Bardet-Biedl syndrome 14+Dupuytren contracture 1 $M(Coach syndrome 1@ ]+,Chromosome 17q11.2 deletion syndrome, 1.4-mbl [ XMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4B q5.Triokinase and FMN cyclase deficiency syndrome+ VRetinitis pigmentosa 419 F%Epilepsy, familial adult myoclonic, 2  a Dystonia 23 @~$,Fibular hypoplasia and complex brachydactyly$ UElliptocytosis 1/ ^Hermansky-Pudlak syndrome 7O no;Intellectual developmental disorder, autosomal recessive 63O7*;Microcephalic osteodysplastic primordial dwarfism, type III@ 8,Microcephaly 4, primary, autosomal recessive26Hypogonadism-Cataract syndromeog[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 4 Oral sensibility, disturbance of'HChondrocalcinosis 2 J l6Vertebral, cardiac, renal, and limb defects syndrome 1 .AOBESITY: A@&Homozygous 11p15-p14 deletion syndrome' t*Joubert syndrome 39A AQ-Ichthyosis, congenital, autosomal recessive 3N H:Intellectual developmental disorder, autosomal recessive 3 *h Teeth, fused/0GLYCOGEN STORAGE DISEASE Ic4 j Familial adenomatous polyposis 4' l]Perrault syndrome 6A _W-Microcephaly, epilepsy, and diabetes syndromeO h;Seizures, scoliosis, and macrocephaly/microcephaly syndromeyeHirschsprung disease with ulnar polydactyly, polysyndactyly of bigtoes, and ventricular septal defect? o+Spondyloepiphyseal dysplasia, Kondo-Fu type9@ TYROSINOSIS> u0*Agammaglobulinemia 8B, autosomal recessiveCl/Dyssegmental dysplasia, Rolland-Desbuquois typeB Mo.Deafness, neurosensory, autosomal recessive 46+ nRetinitis pigmentosa 844 c Albinism, oculocutaneous, type VDx0Faciodigitogenital syndrome, autosomal recessive, rSpermatogenic failure 51[ /`GKeratosis linearis with ichthyosis congenita and sclerosing keratoderma\0HAtaxia-Telangiectasia with generalized skin pigmentation and early death4 Familial Mediterranean fever, ARQ o=Immunodeficiency 63 with lymphoproliferation and autoimmunity+Gaucher disease, type ID m0Neurodegeneration with brain iron accumulation 8N˸:Marfanoid habitus with microcephaly and glomerulonephritisO n};Intellectual developmental disorder, autosomal recessive 65H e$4Hyperphosphatasia with mental retardation syndrome 4- KSchindler disease, type IC 5/Hemophagocytic lymphohistiocytosis, familial, 4,0Spinocerebellar ataxia 1 % eSeckel syndrome 8Ei41Dwarfism, mental retardation, and eye abnormalityB K*Spastic paraplegia 27, autosomal recessive F n 2Tumoral calcinosis, hyperphosphatemic, familial, 37 s#Bile acid malabsorption, primary, 2,3$Atrophoderma vermiculata5!Spinal muscular atrophy, type IIID m0Short-Rib thoracic dysplasia 20 with polydactyly> _i*Mental retardation, autosomal recessive 18h S!TLeukoencephalopathy with brainstem and spinal cord involvement and lactate elevation/lGlycogen storage disease IIJ6Gastrointestinal defects and immunodeficiency syndrome( WTrehalase deficiency(FSjogren syndrome2 uMyopia 28, autosomal recessive3XMuscular dystrophy, Becker type O n;Ophthalmoplegia, external, with rib and vertebral anomalies* _<Psoriasis 14, pustularN r:Neurofacioskeletal syndrome with or without renal agenesisG uS3Phosphoribosylaminoimidazole carboxylase deficiency> ]p*Spastic paraplegia 51, autosomal recessive2 KGriscelli syndrome, type 3& QJoubert syndrome 6uaMultinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly_ rKLeukoencephalopathy, progressive, infantile-onset, with or without deafness5 Qz!Osteogenesis imperfecta, type VII4 /x Otofacioosseous-Gonadal syndrome+9Usher syndrome, type ICE`1Deafness, congenital, with vitiligo and achalasia9 U%Bestrophinopathy, autosomal recessiveV YlBDystonia, dopa-responsive, due to sepiapterin reductase deficiencyO kk;Intellectual developmental disorder, autosomal recessive 59S$?Renal tubular acidosis, distal, with progressive nerve deafnessH r34Mitochondrial complex IV deficiency, nuclear type 15"8Cornea plana 1} JiSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positiveL`8Deafness, conductive, with ptosis and skeletal anomalies3RCorneal dystrophy, Central typeA n-Spondyloepimetaphyseal dysplasia, Krakow type4 a Deafness, autosomal recessive 93& f{Mirror movements 3N ]:Short-Rib thoracic dysplasia 4 with or without polydactyly=)Omphalocele-Cleft palate syndrome, lethal8 ^$Phosphoserine phosphatase deficiency& /Nephronophthisis 2B L.Myopathy, autophagic vacuolar, infantile-onset0 ruKaya-Barakat-Masson syndrome5 k!Sudden cardiac failure, infantile< ci(Congenital disorder of deglycosylation 1& lZMeckel syndrome 13J 0X6Ventriculomegaly with defects of the radius and kidney: b&Ectodermal dysplasia 7, Hair/nail type$ \#Oguchi disease-2'Rhizomelic syndromeC ,/Atrophia maculosa varioliformis cutis, familial; b'Maple syrup urine disease, mild variantWCNephrosis with deafness and urinary tract and digital malformationsA kA-Epileptic encephalopathy, early infantile, 49<9U(Ulnar hypoplasia with mental retardation4 O Deafness, autosomal recessive 651 ENiemann-pick disease, type C2+ hSenior-Loken syndrome 9r h&^Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities] uDIIntellectual developmental disorder with or without peripheral neuropathyEr1Microcephaly with cervical spine fusion anomalies/ KGlucocorticoid deficiency 3K u7Spinal muscular atrophy, distal, autosomal recessive, 6=(.)Crisponi/cold-induced sweating syndrome 1C Y/Spondyloepimetaphyseal dysplasia, Aggrecan type6 a{"Heterotaxy, visceral, 6, autosomal; Y'Cerebral creatine deficiency syndrome 2< p2(Trichothiodystrophy 7, nonphotosensitive, n~Spermatogenic failure 30E t1Cholestasis, progressive familial intrahepatic, 8C/Night blindness, congenital stationary, type 1B2 qFanconi renotubular syndrome 5] sZIDeafness, cataract, impaired intellectual development, and polyneuropathy)Pierre Robin syndrome$Renal glucosuria0`Glycogen storage disease VII0 ZGlycogen storage disease IXc0 nSqualene synthase deficiency0 npPremature ovarian failure 15U uGANeurodegeneration, childhood-onset, with progressive microcephaly/ Q?Cataract 11, multiple types@ N,2-Methylbutyryl-Coa dehydrogenase deficiency$ hRoifman syndrome3 Y*Ciliary dyskinesia, primary, 12^ kJMuscular dystrophy, congenital, with cataracts and intellectual disability, pSpermatogenic failure 41[ qFGMyopathy, congenital, with respiratory insufficiency and bone fracturesU ^AMitochondrial complex V (atp synthase) deficiency, nuclear type 3/ 8Cardiomyopathy, dilated, 1H A X-Lipodystrophy, congenital generalized, type 3+ e-Retinitis pigmentosa 68H4Pseudohypoaldosteronism, type I, autosomal recessive0 ZXAicardi-Goutieres syndrome 5*Retinitis pigmentosa 10Genitopalatocardiac syndrome> \*Ectodermal dysplasia-syndactyly syndrome 1B q.Congenital disorder of glycosylation, type IIt4n Spinal muscular atrophy, type II8 ;[$Hypobetalipoproteinemia, familial, 23 dLeukoencephalopathy with ataxiaI U5Renal tubular acidosis, distal, with hemolytic anemia; K['Limb-girdle muscular dystrophy, type 1G a kZMColoboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness" +Brody myopathy. uStickler syndrome, type VI+Heart block, congenitalP q g*Lissencephaly 7 with cerebellar hypoplasia6 b"Myasthenic syndrome, congenital, 8' dImmunodeficiency 179 c%T-CELL RECEPTOR-ALPHA/BETA DEFICIENCYL f^8Hypogonadotropic hypogonadism 22 with or without anosmia,Wolf-Hirschhorn syndrome+ KSenior-Loken syndrome 51 f Hyperlipoproteinemia, type ID#TOrotic aciduria-ъCartilage-hair hypoplasiaG o 3Mitochondrial complex I deficiency, nuclear type 328 +{$Proprotein convertase 1/3 deficiencyM H9Deafness, congenital neurosensory, autosomal recessive 40+*6Teebi-Shaltout syndromeK v7Ciliary dyskinesia, primary, 48, without situs inversus4 L Deafness, autosomal recessive 23G q3Mitochondrial complex I deficiency, nuclear type 352QCorneal dystrophy, band-shaped5 n!Epidermodysplasia verruciformis 2a kBMDystonia, childhood-onset, with optic atrophy and basal ganglia abnormalitiesl VXMitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)/ GHermansky-Pudlak syndrome 2= k)Cutis laxa, autosomal recessive, type IID2 `Trichohepatoenteric syndrome 2O;Myotonia with skeletal abnormalities and mental retardationb pKNNeurodevelopmental disorder with cataracts, poor growth, and dysmorphic faciesR X\>Ciliary dyskinesia, primary, 9, with or without situs inversus$Hartnup disorder> ZH*Spastic paraplegia 50, autosomal recessiveA d-Anemia, congenital dyserythropoietic, type IbKb|7Leukoencephalopathy, diffuse hereditary, with spheroids <(Renal, genital, and middle ear anomalies5 dj!Parkinson disease 20, early-onset&vMcdonough syndromeD n0Myasthenic syndrome, congenital, 24, presynaptic7 s'#Pontocerebellar hypoplasia, type 1E0 ]Leber congenital amaurosis 8* GRetinitis pigmentosa 7:"Ceroid lipofuscinosis, neuronal, 16 b1"Pontocerebellar hypoplasia, type 8?2+Progeroid short stature with pigmented nevi.TCranioectodermal dysplasia, f9Bardet-Biedl syndrome 16# `Hyperekplexia 3/Pseudodiastrophic dysplasia9 o%Fetal akinesia deformation sequence 32+Apolipoprotein C-II deficiencyB f.Spinocerebellar ataxia, autosomal recessive 17G p3Oculopharyngeal myopathy with leukoencephalopathy 1 J X6Neutropenia, severe congenital, 4, autosomal recessive>*Hyperinsulinemic hypoglycemia, familial, 1R C>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5"wJawad syndromeB /.Fibrosis of extraocular muscles, congenital, 2D [a0Diarrhea 5, with tufting enteropathy, congenitalr u^Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects= W)Cardiomyopathy, familial hypertrophic, 12 I1Cone dystrophy, X-linked, with tapetal-like sheen / uyCardiomyopathy, dilated, 2GO dE;Intellectual developmental disorder, autosomal recessive 371Niemann-pick disease, type C1Hט4Microtia with meatal atresia and conductive deafness, f:Bardet-Biedl syndrome 17@f-,Rhizomelic chondrodysplasia punctata, type 2i gUMyasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency% QAlopecia areata 2A k-Epileptic encephalopathy, early infantile, 53R*T>Teeth, congenital absence of, with taurodontia and sparse hair7 gp#Myasthenic syndrome, congenital, 176"Cataract 13 with adult i phenotype7Ov#Complement component c1r deficiency6 Rc"Osteogenesis imperfecta, type VIII<l(Dystonia 2, torsion, autosomal recessive<R(Mucopolysaccharidosis type IVB (Morquio)C²/3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency6 i-"Heterotaxy, visceral, 7, autosomalq p]Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures0ADT-Peroxisome biogenesis disorder 1A (Zellweger)! Peho syndromeD m0Combined oxidative phosphorylation deficiency 35& q+Juvenile arthritisR G!>Encephalopathy, acute, infection-induced, susceptibility to, 3 H4Fundus dystrophy, pseudoinflammatory, recessive form8 a$Interstitial nephritis, karyomegalicA c-Epileptic encephalopathy, early infantile, 16K07Phosphoenolpyruvate carboxykinase deficiency, cytosolic)>Wrinkly skin syndromeQ ^%=Megalencephalic leukoencephalopathy with subcortical cysts 2A?X+Cutis verticis gyrata and mental deficiency0 sAicardi-Goutieres syndrome 9; .'Megaloblastic anemia, folate-responsive' dJoubert syndrome 217#Paroxysmal nocturnal hemoglobinuria 7 gT#Coenzyme Q10 deficiency, primary, 7> N*Cataract, autosomal recessive congenital 25 a!Peroxisome biogenesis disorder 8BYNEIchthyosis with alopecia, eclabion, ectropion, and mental retardation5 Z!Glaucoma 3, primary congenital, D;C'Cerebrocortical degeneration of infancy ioMetabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegenerationM9Hemolytic uremic syndrome, atypical, susceptibility to, 11Kenny-caffey syndrome, type 1)z Fanconi-Like syndrome6"Gastric cancer, hereditary diffuse 4 Oi Deafness, autosomal recessive 49, pSpermatogenic failure 40R o>Myopathy, congenital, with fast-twitch (type ii) fiber atrophyL.8Hair defect with photosensitivity and mental retardation# ^Lissencephaly 483$Hyperkeratosis lenticularis perstans C l6/Erythrokeratodermia variabilis et progressiva 40SCorpus callosum, agenesis of% 8 Salla disease0 I)Leber congenital amaurosis 9, T7Usher syndrome, type IIDK *I7Carnitine palmitoyltransferase II deficiency, infantiledqPEncephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts#Optic atrophy 6M Z=9Hemolytic uremic syndrome, atypical, susceptibility to, 5 6 o"Amelogenesis imperfecta, type IIIC) YRSpherocytosis, type 5Y iEOsteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type7|Granulomas, congenital cerebralD k 0Combined oxidative phosphorylation deficiency 31<\(Neuropathy, hereditary sensory, atypical0Plasmin inhibitor deficiencyD e0Combined oxidative phosphorylation deficiency 21/ nNephrotic syndrome, type 19"6Gombo syndrome(9Urocanase deficiencyF c2Ehlers-Danlos syndrome, spondylodysplastic type, 2T s@Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathyD5*Spastic paraplegia 20, autosomal recessive- k*Myopathy, myofibrillar, 8: 4"Pseudouridinuria and mental defect=9)Brachydactyly, type A2, with microcephaly+ /Usher syndrome, type IF& TNephronophthisis 7I85Indifference to pain, congenital, autosomal recessiveN~L:Fibuloulnar aplasia or hypoplasia with renal abnormalities; .e'Arthrogryposis and ectodermal dysplasiaP f i*Mental retardation, autosomal recessive 52$Alstrom syndrome u3uIntellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly> d*Spastic paraplegia 57, autosomal recessivei pUNeurodevelopmental disorder with microcephaly, cortical malformations, and spasticityVOBCongenital heart defects, hamartomas of tongue, and polysyndactyly"Fryns syndromeW4CMetaphyseal dysostosis, mental retardation, and conductive deafness8 \u$Immunodeficiency, common variable, 3+sEnterokinase deficiency$ YiKahrizi syndrome*9Elsahy-Waters syndrome,Hyperprolinemia, type II> Mf*Epidermolysis bullosa, lethal acantholyticAw-Focal facial dermal dysplasia 3, Setleis type9%Multiple sclerosis, susceptibility to .Orofaciodigital syndrome VB a.Peroxisome biogenesis disorder 12A (Zellweger)6q"Pontocerebellar hypoplasia, type 4? )(+Aplasia cutis congenita of limbs, recessive7 nQ#Pontocerebellar hypoplasia, type 1D/Agnathia-Otocephaly complex7 `#Coenzyme Q10 deficiency, primary, 25H!Chondrodysplasia, Blomstrand typeQ (=Spondyloepiphyseal dysplasia tarda with characteristic faciesnhZMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4=)Hyperphosphatasia with mental retardationN S:Intellectual developmental disorder, autosomal recessive 5W lCNeurodevelopmental disorder with microcephaly, ataxia, and seizures/fHypophosphatasia, childhoodi dTUErythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-igeD j0Short-rib thoracic dysplasia 15 with polydactylyD hb0Short-Rib thoracic dysplasia 14 with polydactylyA9V-Ulnar agenesis and endocardial fibroelastosisk tWNeurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, lSpermatogenic failure 23G s3Short-rib thoracic dysplasia 21 without polydactyly. \Forsythe-Wakeling syndrome3 dCiliary dyskinesia, primary, 23@ a,Microcephaly 8, primary, autosomal recessive( gRuijs-Aalfs syndrome( X@Factor XI deficiency2 SDystonia, focal, task-specific = `P)Hypertriglyceridemia, transient infantileFRd2Corneal endothelial dystrophy, autosomal recessive5 _!Glutathione peroxidase deficiency03-hydroxyisobutyric aciduria.dLanger mesomelic dysplasiaX -DMyelodysplasia, immunodeficiency, facial dysmorphism, short stature,X l/DNeurodevelopmental disorder with hypotonia, neuropathy, and deafness@1p,Thyroid hormonogenesis, genetic defect in, 44 Oj Deafness, autosomal recessive 44$ bAlazami syndromeJ 2Insensitivity to pain, congenital, with anhidrosis < e(Sacral agenesis with vertebral anomalies% ],Seckel syndrome 4; ?'Diabetes mellitus, permanent neonatal 1Q<=Mesangial sclerosis, diffuse renal, with ocular abnormalities#2Tiglic acidemiaD e0Combined oxidative phosphorylation deficiency 20B lp.Spinocerebellar ataxia, autosomal recessive 25@ rh,Neuropathy, distal hereditary motor, type VC ) f%Cone-Rod dystrophy 20, qLymphatic malformation 8+ kPseudo-Torch syndrome 2) `dCone-Rod dystrophy 16< [9(Cutis laxa, autosomal recessive, type IC5 rX!Mismatch repair cancer syndrome 2/$Hermansky-Pudlak syndrome 1/ tOocyte maturation defect 121 uWaardenburg syndrome, type 2F2Pyropoikilocytosis, hereditary#mEbstein anomaly>F*Diarrhea 1, secretory chloride, congenitalD d0Combined oxidative phosphorylation deficiency 19C/Myopathy due to malate-aspartate shuttle defect. k$Uncombable hair syndrome 3I5Robin sequence with cleft mandible and limb anomalies9 9%Charcot-Marie-Tooth disease, type 4B2+ oiRetinitis pigmentosa 85/ N{Cardiomyopathy, dilated, 1Q ; O'Glycosylphosphatidylinositol deficiencyBx.Nephropathy, deafness, and hyperparathyroidism \pBrachydactyly, type A1, with short stature, scoliosis, microcephaly,ptosis, hearing loss, and mental retardation$-Ascites, chylous-wFaciocardiorenal syndrome;32'Tongue, pigmented fungiform papillae of[ 1RGSevere combined immunodeficiency with sensitivity to ionizing radiation- LSpinocerebellar ataxia 26 ? B+Vascular malformation, primary intraosseous-WCurved nail of fourth toe8 A$Uveal melanoma, susceptibility to, 1 D j9,Charcot-Marie-Tooth disease, axonal, type 2T 7 `#Epilepsy, familial temporal lobe, 5' jJoubert syndrome 28F W2Ehlers-Danlos syndrome, spondylodysplastic type, 3O u;Primordial dwarfism-immunodeficiency-lipodystrophy syndrome2 dMyopia 23, autosomal recessiveEbvNeuropathy, hereditary motor and sensory, with deafness, mental retardation,and absent sensory large myelinated fibers.jOsteopenia and sparse hairc njONeurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosumP K*Spastic paraplegia 26, autosomal recessive+ (DRetinitis pigmentosa 143ECervical vertebrae, agenesis of) CwAnauxetic dysplasia 1Gb3Dextrocardia with unusual facies and microphthalmia? e+Diarrhea 7, protein-losing Enteropathy typeG3Leg, absence deformity of, with congenital cataract3VCrigler-Najjar syndrome, type I< ]:(Cardiomyopathy, familial hypertrophic, 7 ' e3Nemaline myopathy 9((Carpenter syndrome 1&A4Joubert syndrome 1+ \KFrontonasal dysplasia 20Epidermolytic hyperkeratosis5 7!Epidermolysis bullosa pruriginosa"28Graves diseaseU oAContractures, pterygia, and variable skeletal fusions syndrome 1B h= Cataract 44> u*Spastic paraplegia 87, autosomal recessiveD t0Combined oxidative phosphorylation deficiency 554 m Butyrylcholinesterase deficiency+ TMeckel syndrome, type 5j r[VIntellectual developmental disorder with speech delay and axonal peripheral neuropathy= s)Cutis laxa, autosomal recessive, type IIEE >q1Myasthenic syndrome, congenital, 4A, slow-channel%xGitelman syndromeX iDImmunodeficiency-Centromeric instability-facial anomalies syndrome 35!Opticocochleodentate degeneration3FPostaxial acrofacial dysostosisB S.Congenital disorder of glycosylation, type IIg5 j5!Hypermanganesemia with dystonia 2H ii4Hyperphosphatasia with mental retardation syndrome 6>!l*Spastic paraplegia 15, autosomal recessive= r)Sulfide:quinone oxidoreductase deficiencyH r64Mitochondrial complex IV deficiency, nuclear type 18O -;Mental retardation, microcephaly, epilepsy, and coarse face3Immunoerythromyeloid hypoplasia$ Alkaptonuria 4 5 Deafness, autosomal recessive 21A ^7-Ichthyosis, congenital, autosomal recessive 8F s2Ciliary dyskinesia, primary, 47, and lissencephaly5 G !Gaucher disease, perinatal lethalC/Homocystinuria-megaloblastic anemia, cbl E type&lZBethlem myopathy 1p\Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)UxAMethylmalonic aciduria due to methylmalonyl-coa mutase deficiency- fuSpinocerebellar ataxia 40 1 7Keratosis pilaris atrophicans? m+Congenital heart defects, multiple types, 5F n2Mitochondrial complex I deficiency, nuclear type 2%/6Thymoma, familial>*Multiple self-healing squamous epithelioma 8 u$Myopathy, congenital, nonprogressive2 ,Cerebellar ataxia, Cayman type$ )Band heterotopia6w"Faciocardiomelic dysplasia, lethali nUNeurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizuresB@.Xeroderma pigmentosum, complementation group G@d,Cholestasis, benign recurrent intrahepatic 1A '-Deafness, neurosensory, autosomal recessive 2( tOvarian dysgenesis 9' tImmunodeficiency 96F [[2Amelogenesis imperfecta, hypomaturation type, iia36 W"Leukodystrophy, hypomyelinating, 4#Achromatopsia 3> t*Spastic paraplegia 85, autosomal recessiveK _7Emery-Dreifuss muscular dystrophy 7, autosomal dominant @ B0,Myopathy, distal, with anterior tibial onset& ugMeckel syndrome 14Bpx.Ehlers-Danlos syndrome, kyphoscoliotic type, 1G/3Thumb agenesis, short stature, and immunodeficiencyO Q;Immunodeficiency due to defect in mapbp-interacting protein= g )Chronic atrial and intestinal dysrhythmia7/#Thumb, distal hyperextensibility of; k'Sudden cardiac failure, alcohol-induced+ f.Bardet-Biedl syndrome 4ZFAdrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency8$Hutchinson-Gilford progeria syndromeH sK4Popliteal pterygium syndrome, Bartsocas-Papas type 2' q_Immunodeficiency 66.Otoonychoperoneal syndromeGN3Myopathy, congenital, with fiber-type disproportionHn4Myelodysplasia and leukemia syndrome with monosomy 7& ;Wolfram syndrome 2>Q*Corneal degeneration, band-shaped spheroidFj2Mitochondrial complex I deficiency, nuclear type 1;M 'Cleidocranial dysplasia, recessive form/"Gluteal muscles, absence of#>Hypotrichosis 82 NComplement factor H deficiency: .&Premature aging syndrome, Okamoto type# M\Majeed syndrome/ ZAntithrombin III deficiency7 kW#Mucopolysaccharidosis-Plus syndromej JVMyasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiencyD m0Short-Rib thoracic dysplasia 18 with polydactylySޗ?Thrombophilia due to deficiency of activated protein C cofactor n c ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 119 A%Melanoma, uveal, susceptibility to, 2 5 eZ!Atrial fibrillation, familial, 15742#Beemer lethal malformation syndromeU (pAPachygyria with mental retardation, seizures, and arachnoid cysts'=Winchester syndrome^ rJIntellectual developmental disorder with paroxysmal dyskinesia or seizuresXDRetinitis pigmentosa, deafness, mental retardation, and hypogonadism` ePLMicrocephaly, progressive, with seizures and cerebral and cerebellar atrophyI oE5Epidermodysplasia verruciformis, susceptibility to, 5= S)Mental retardation, autosomal recessive 6\HCochleosaccular degeneration of the inner ear with progressive cataracts7n#Myasthenia, limb-girdle, autoimmune KI3Choroid plexus calcification and mental retardationC/Tremor of intention, ataxia, and lipofuscinosisj v"VNeurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment* 8ACERULOPLASMINEMIA 9 8%Ataxia-Telangiectasia-Like disorder 1> S*Mental retardation, autosomal recessive 10,DEnhanced S-cone syndrome- mGalloway-Mowat syndrome 5= )))Hereditary motor and sensory neuropathy V 7 s#Nephronophthisis-like nephropathy 2I5Thrombophilia 13, X-linked, due to factor VIII defect ?+Carnitine palmitoyltransferase I deficiencyo cw[MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13$ 4Gracile syndromeF h92Neuropathy, hereditary motor and sensory, type VIB-Woodhouse-Sakati syndromeA b^-Epileptic encephalopathy, early infantile, 15; C'Meningioma, familial, susceptibility to 7 (4#Parkinson disease, juvenile, type 2\ aPHGlucocorticoid deficiency 4 with or without mineralocorticoid deficiencyCX/Minicore myopathy with external ophthalmoplegia5 jl!Portal hypertension, noncirrhotic' rImmunodeficiency 77 J I2Aicar transformylase/imp cyclohydrolase deficiencyRh>Hypogonadism with low-grade mental deficiency and microcephalyVNBAmaurosis congenita, cone-rod type, with congenital hypertrichosis4\ Deafness, autosomal recessive 1A?b+Pancreatic insufficiency, combined exocrine> _ *Nail disorder, nonsyndromic congenital, 10N P:Myasthenic syndrome, congenital, with tubular aggregates 1i%QAnemia, nonspherocytic hemolytic, associated with abnormality of redcell membraneB _U.Spinocerebellar ataxia, autosomal recessive 110 `Microphthalmia, syndromic 11A p-Epileptic encephalopathy, early infantile, 82W OCCerebellar ataxia, mental retardation, and dysequilibrium syndrome26 +"Deafness, autosomal recessive 8/10C p'/Ectodermal dysplasia 15, Hypohidrotic/hair type/Glycogen storage disease Ia= ])Bile acid synthesis defect, congenital, 3' n|Immunodeficiency 57 HGrowth failure, microcephaly, mental retardation, cataracts, largejoint contractures, osteoporosis, cortical dysplasia, and cerebellaratrophy3$Brachyolmia type 1, Hobaek type= S)Mental retardation, autosomal recessive 9D o0Combined oxidative phosphorylation deficiency 39/ T?Cataract 33, multiple types. b`Nephrotic syndrome, type 7HR4Metaphyseal dysplasia, anetoderma, and optic atrophyHGrowth retardation, small and puffy hands and feet, and eczema*9Usher syndrome, type I, iSpermatogenic failure 15= ^)Pyruvate dehydrogenase E1-beta deficiencyX u DAnemia, congenital dyserythropoietic, type IIIb, autosomal recessive+ ?tRetinitis pigmentosa 28D iZ0Combined oxidative phosphorylation deficiency 28B W.Microtia, hearing impairment, and cleft palateA +-Deafness, neurosensory, autosomal recessive 7( ;UMICROHYDRANENCEPHALY5 l!Deafness, autosomal recessive 106. mOocyte maturation defect 43wErythroderma, lethal congenital9 h%Immunodeficiency, common variable, 12 Ot;Polydactyly, postaxial, with dental and vertebral anomalies GCraniofacial abnormalities, cataracts, congenital heart disease, sacralneural tube defects, and growth and developmental retardationB /.Deafness, neurosensory, autosomal recessive 18) ]Cone-rod dystrophy 15=#)Bile acid synthesis defect, congenital, 2"-V3-M syndrome 16"Ceroid lipofuscinosis, neuronal, 5/TMucolipidosis II alpha/beta8 O$3-@methylglutaconic aciduria, type V:%x&Iron-Refractory iron deficiency anemiam ezYNeurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalitiesQ K!=Nephropathy with pretibial epidermolysis bullosa and deafnessD oS0Myasthenic syndrome, congenital, 25, presynaptic/ aCardiomyopathy, dilated, 2B]IHirschsprung disease with hypoplastic nails and dysmorphic facialfeatures9 o%Fetal akinesia deformation sequence 4, ^Hydrolethalus syndrome 2+ CSenior-Loken syndrome 4. k#Uncombable hair syndrome 2QN=Cutaneous mastocytosis, conductive hearing loss, and microtia5\!Myasthenia, limb-girdle, familial) -zPatent ductus venosus, +0Budd-Chiari syndrome / maGlucocorticoid deficiency 5,8Aland island eye diseasef nRMicrocephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome^JGRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVEt -S`Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis= \|)Agammaglobulinemia 2, autosomal recessive3Polydactyly, postaxial, type A5> Q*Mitochondrial phosphate carrier deficiency= k)Cutis laxa, autosomal recessive, type IICN ^:Short-Rib thoracic dysplasia 7 with or without polydactyly4 Obesity-Hypoventilation syndromeK7Molybdenum cofactor deficiency, complementation group B> _*Mental retardation, autosomal recessive 29' cNephronophthisis 16c WOHemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathyS [?Inflammatory bowel disease 28, early onset, autosomal recessive1bhDermochondrocorneal dystrophy4 ` Deafness, autosomal recessive 86s @"_Mental retardation, microcephaly, growth retardation, joint contractures,and facial dysmorphism6H"Grouped pigmentation of the macula3 lPolydactyly, postaxial, type A7< b(Lethal congenital contracture syndrome 4+LFrank-ter Haar syndrome' dImmunodeficiency 19* RXFE progeroid syndromec sOMuscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome= ."%Neural tube defects, folate-sensitive_ UKEpilepsy, progressive myoclonic 3, with or without intracellular inclusionsh a\TInterstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenitalB t.Usmani-Riazuddin syndrome, autosomal recessive7 d>#Interstitial lung and liver disease@ 9x,Ectodermal dysplasia/skin fragility syndromeB s.Spinocerebellar ataxia, autosomal recessive 307 g#Leukodystrophy, hypomyelinating, 10> V*Spastic paraplegia 39, autosomal recessiveC Z/Hemophagocytic lymphohistiocytosis, familial, 5+IChorea, benign familialJ ]6Complement component 3 deficiency, autosomal recessiveB.Ciliary dyskinesia with excessively long ciliaSL?Periodic fever, immunodeficiency, and thrombocytopenia syndrome>5*Bietti crystalline corneoretinal dystrophy6 e"Pontocerebellar hypoplasia, type 9? o+Body mass index quantitative trait locus 20w pcNeurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomaliesD r0Combined oxidative phosphorylation deficiency 49<B(Trichothiodystrophy 4, nonphotosensitive5!Methionine malabsorption syndrome4 g Amelogenesis imperfecta, type IH0 ddMicrophthalmia, syndromic 12B i.Spinocerebellar ataxia, autosomal recessive 220 _Pancreatic lipase deficiency: E&Hypereosinophilic syndrome, idiopathic2Prolactin deficiency, isolatedA k{-Epileptic encephalopathy, early infantile, 51'[D-glyceric aciduria$1ATRANSFERRINEMIAD g/0Combined oxidative phosphorylation deficiency 244 N Deafness, autosomal recessive 47G o 3Mitochondrial complex I deficiency, nuclear type 29O u;Intellectual developmental disorder, autosomal recessive 76A a-Peroxisome biogenesis disorder 7A (zellweger)9V%Holocarboxylase synthetase deficiency.Blount disease, adolescentB i.Spinocerebellar ataxia, autosomal recessive 23n `ZMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 76 "Radiculoneuropathy, fatal neonatal> i#*Mental retardation, autosomal recessive 51H ]4Mitochondrial DNA depletion syndrome 4B (mngie type)4 N Glutamine deficiency, congenital/ lNephrotic syndrome, type 15_ lKEncephalopathy, progressive, early-onset, with brain atrophy and spasticityM q9Heterotaxy, visceral, 9, autosomal, with male infertilityO [H;Intellectual developmental disorder, autosomal recessive 13&پMoyamoya disease 1w ucNeurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies\ pHNeurodevelopmental disorder with epilepsy, spasticity, and brain atrophyD Y,Sodium-Potassium-Atpase activity of red cell2Galactose epimerase deficiencyD n0Myasthenic syndrome, congenital, 23, presynaptic, nkSpermatogenic failure 292qEncephalomalacia, multilocular2 sqOsteootohepatoenteric syndrome</Y Thymic-Renal-Anal-Lung dysplasia2<(Trichorhinophalangeal syndrome, type III; m'Fanconi anemia, complementation group SA j-Epileptic encephalopathy, early infantile, 44,8Galactokinase deficiency36Aganglionosis, total intestinalH d4Epidermolysis bullosa simplex, autosomal recessive 28 L$Charcot-marie-tooth disease, type 4H*DCeroid storage disease6 h\"Epilepsy, progressive myoclonic, 912Atrioventricular dissociationi tKUDevelopmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities$@Paragangliomas 1 A ,H)Lissencephaly type III and bone dysplasia@ E,Charcot-Marie-Tooth disease, axonal, type 2H4 ty Hengel-Maroofian-Schols syndrome..Aspartylglucosaminuria5!Ghosal hematodiaphyseal dysplasia7 Z#Liver failure, infantile, transient) eCone-Rod dystrophy 19Mޖ9Muscular dystrophy, adult-onset, with leukoencephalopathy= b<)Cholestasis, intrahepatic, of pregnancy 3E u 1Epidermolysis bullosa, junctional 4, intermediate9 o%Spastic ataxia 9, autosomal recessive fGlCataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia. RMicrophthalmia, isolated 39 +%Epilepsy, familial adult myoclonic, 1 I oC5Epidermodysplasia verruciformis, susceptibility to, 4 i Cataract 454 Z Deafness, autosomal recessive 774 U5 Primary lateral sclerosis, adult ; B{'Immunodeficiency with hyper-igm, type 3O j;Intellectual developmental disorder with cardiac arrhythmiajVMullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly;'Discrimination, two-point, reduction in7 OO#Ceroid lipofuscinosis, neuronal, 10D r10Combined oxidative phosphorylation deficiency 51Z ZJFGrowth retardation, developmental delay, coarse facies, and earlydeath; m8'Fanconi anemia, complementation group W& 8Nephronophthisis 35!Retinal degeneration and epilepsyC s/Central hypoventilation syndrome, congenital, 32gLactase deficiency, congenital- Cockayne syndrome, type B3 ]Ciliary dyskinesia, primary, 15NՆ:Microcephaly and chorioretinopathy, autosomal recessive, 1Q o*=Hyper-Ige recurrent infection syndrome 3, autosomal recessive5ʂ!Manitoba oculotrichoanal syndrome' Rodrigues blindness\ jHNeurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetF2Acyl-Coa dehydrogenase, short-chain, deficiency of+Spermatogenic failure 25 ^-!Acetyl-CoA carboxylase deficiency; q'Hypoparathyroidism, familial isolated 2& IuJoubert syndrome 37 [#Parkinsonism-Dystonia, infantile, 102Cognitive function 1, social= gV)Bile acid synthesis defect, congenital, 5M ]9Rajab interstitial lung disease with brain calcifications#fHyperopia, highW _CMultiple mitochondrial dysfunctions syndrome 2 with hyperglycinemiaR j[>Neurodevelopmental disorder with microcephaly and gray scleraeL 88Congenital cataracts, facial dysmorphism, and neuropathy;'Paget disease of bone 5, juvenile-onset0<Myoclonic epilepsy of Lafora3Mucopolysaccharidosis type IIIAI ) 1Osteopetrosis and infantile neuroaxonal dystrophy0 1iEncephalopathy, ethylmalonicX0@Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia C 6/Leukoencephalopathy with vanishing white matter( 5Xanthinuria, type II-դGalloway-mowat syndrome 1#rPrenatal bowing+ S>Meckel syndrome, type 4' q Joubert syndrome 36Myxedema9 \%Epilepsy, familial adult myoclonic, 3 O r;Rajab interstitial lung disease with brain calcifications 2D k0Autoinflammation with arthritis and dyskeratosis> _*Mental retardation, autosomal recessive 24(0Athrombia, essentialWCAfibrinogenemia, congenitalhypofibrinogenemia, congenital, included- P4Retinal cone dystrophy 3BMt`5Epidermodysplasia verruciformis, susceptibility to, 1z +fTibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies' aImmunodeficiency 28C/Myasthenic syndrome, congenital, 6, presynapticNZ:Cystinosis, late-onset juvenile or adolescent nephropathic/ sAlzahrani-Kuwahara syndrome' Amyotonia congenita' nImmunodeficiency 587Hn#Otospondylomegaepiphyseal dysplasia( _46,xy sex reversal 8B -.Chorea, remitting, with nystagmus and cataract, t}Spermatogenic failure 598t$Immunodeficiency, common variable, 2W uCDevelopmental and epileptic encephalopathy 105 with hypopituitarism@ ,Epidermolysis bullosa dystrophica, pretibial5 B!Albinism, oculocutaneous, type IB6 )"Tibial muscular dystrophy, tardive S;Myopathy, granulovacuolar lobular, with electrical myotoniaA C-Congenital disorder of glycosylation, type IgQ JD=Carnitine palmitoyltransferase II deficiency, lethal neonatal.&Angiolipomatosis, familial' p&Immunodeficiency 640 ]Cataract, posterior polar, 2VC:Cerebral sclerosis similar to pelizaeus-merzbacher disease: rs&Cardiofacioneurodevelopmental syndrome)|Fibrochondrogenesis 1D b"0Combined oxidative phosphorylation deficiency 142 Split-Hand/foot malformation 3< _E(Neuropathy, hereditary sensory, type IIC% h Al-Raqad syndrome< t(Trichothiodystrophy 9, nonphotosensitive4 N Deafness, autosomal recessive 283 Sea-Blue histiocyte disease @ (9,Rhizomelic chondrodysplasia punctata, type 3( b@Carpenter syndrome 2/ nCardiomyopathy, dilated, 2CBW.Cutaneous photosensitivity and colitis, lethal5 H!Familial adenomatous polyposis, 2+ ]Retinitis pigmentosa 40k 1gWShort stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalitiesF u(2Epidermolysis bullosa, junctional 5A, intermediate< >(Fanconi anemia, complementation group D13 dLCiliary dyskinesia, primary, 26Gz3Humeroradial synostosis with craniofacial anomaliesJ P6Camptodactyly, tall stature, and hearing loss syndrome;'Hyperphenylalaninemia, BH4-deficient, DN o:Spondyloepimetaphyseal dysplasia with joint laxity, type 39%Immunoosseous dysplasia, Schimke type" _=3-M syndrome 3.}Fibrosclerosis, multifocal' c'Immunodeficiency 56M H 9Deafness, congenital neurosensory, autosomal recessive 39)BOsteoma of middle ear$ (kGonadal agenesis+ mRetinitis pigmentosa 81T I@Deafness, autosomal recessive 32, with or without immotile sperm0\2Ritscher-Schinzel syndrome 15 l!Deafness, autosomal recessive 108"Leigh syndromef LRCerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndromeB aG.Congenital disorder of glycosylation, type IIK3 nPolydactyly, postaxial, type A97 h#Epilepsy, progressive myoclonic, 10K bt7Epidermolysis bullosa, nonspecific, autosomal recessiven bZMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10r tR^Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies&=Immune suppression ,3 Restrictive dermopathy 1( fNemaline myopathy 10[ i4GSpastic paraplegia and psychomotor retardation with or without seizuresi NQEctodermal dysplasia, sensorineural hearing loss, and distinctive facial featuresQ r=Immunodeficiency 78 with autoimmunity and developmental delayd GiPEpilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp+Kifafa seizure disorder< S(Muscular dystrophy, limb-girdle, type 2L/ dOtofaciocervical syndrome 21Immunoglobulin A deficiency 1> S*Spastic paraplegia 18, autosomal recessive0 mDiamond-Blackfan anemia-like+ jgMeier-Gorlin syndrome 7C|/Fibromatosis, gingival, with distinctive facies46 Vasculitis, lymphocytic, nodularD|0Retinal telangiectasia and hypogammaglobulinemiaL S8Polyhydramnios, megalencephaly, and symptomatic epilepsyD P0Spondyloepimetaphyseal dysplasia, Genevieve type>E*Klippel-Feil syndrome, autosomal recessive pnNeurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomaliesOPp;Convulsive disorder, familial, with prenatal or early onset-Maple syrup urine diseaseI 5Absent eyebrows and eyelashes with mental retardationEL1Neutropenia, lethal congenital, with eosinophiliaH a]4Hyperphosphatasia with mental retardation syndrome 26ACerebral angiopathy, dysphoric' B\Fumarase deficiency+ `UV-sensitive syndrome 3>`*Chronic recurrent multifocal osteomyelitis:k&Muscular atrophy, malignant neurogenic >hD&Disseminated sclerosis with narcolepsy3Mucopolysaccharidosis type IIIB4b< Meralgia paraesthetica, familialY sEMyasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive7 a3#Brown-Vialetto-Van laere syndrome 2d ePVasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome# )Schizophrenia 3A ='-Cholestasis, benign recurrent intrahepatic, 2=v)Transient erythroblastopenia of childhood/ F"Acrocapitofemoral dysplasia# 8Hypotrichosis 7,Renal tubular dysgenesis+ gsSenior-Loken syndrome 8M P9Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa< T)(Lethal congenital contracture syndrome 3# _Sclerosteosis 2D qc0Combined oxidative phosphorylation deficiency 437 J#Ataxia, sensory, autosomal dominant j l VNeurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesA K-Congenital disorder of glycosylation, type IF7 s%#Pontocerebellar hypoplasia, type 14D qV0Combined oxidative phosphorylation deficiency 41B bp.Ichthyosis, congenital, autosomal recessive 10T n@Mitochondrial complex V (ATP synthase) deficiency nuclear type 5G S63Mitochondrial complex I deficiency, nuclear type 203BTranscobalamin I deficiency; ^'Mosaic variegated aneuploidy syndrome 2N D:Intellectual developmental disorder, autosomal recessive 2% ]Seckel syndrome 5s G_Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones> YS*Polymicrogyria, bilateral temporooccipital/(Anosmia for isobutyric acidA q(-Epileptic encephalopathy, early infantile, 84S ,?Porencephaly, cerebellar hypoplasia, and internal malformations- NRetinal cone dystrophy 3A" lHelix syndromeG j.3Autoimmune disease, multisystem, infantile-onset, 2-.Multiple mitochondrial dysfunctions syndrome 15 N!Peeling skin syndrome, Acral type-Hemochromatosis, neonatal7D#Leber congenital amaurosis, type II8 Ej$Immunodeficiency, common variable, 12 nBone marrow failure syndrome 44 P Cold-Induced sweating syndrome 2P [V*Spastic paraplegia 44, autosomal recessiveNG:Cholestasis with gallstone, ataxia, and visual disturbance6 K"Ceroid lipofuscinosis, neuronal, 9V *BDeafness, autosomal recessive 4, with enlarged vestibular aqueduct/ ^Hermansky-Pudlak syndrome 62Ciliary dyskinesia, primary, 1/:Orofaciodigital syndrome VII P{5Cone-Rod synaptic disorder, congenital nonprogressive* eaDesbuquois dysplasia 2> bv*Spastic paraplegia 56, autosomal recessive;#'Spinocerebellar ataxia with dysmorphismO e;Intellectual developmental disorder, autosomal recessive 43^ hSJPolymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposisH r.4Mitochondrial complex IV deficiency, nuclear type 11p#\Spinocerebellar degeneration with macular corneal dystrophy, congenitalcataracts, and myopia< f(Monocarboxylate transporter 1 deficiency92%Mercaptolactate-Cysteine disulfiduriaG3Ankyloblepharon-Ectodermal defects-cleft lip/palate2 oLymphoproliferative syndrome 3k pWNeurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia;3#Tricarboxylic acid cycle, defect of3GtCholestasis-Lymphedema syndromeA-Myopathy, myosin storage, autosomal recessive)Acrocallosal syndromeE =-Charcot-Marie-Tooth disease, axonal, type 2B2 L%4Anemia, hypochromic microcytic, with iron overload 14 ^ Deafness, autosomal recessive 29B m.Multiple mitochondrial dysfunctions syndrome 6R L>Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1*Reticulum cell sarcoma+ qRetinitis pigmentosa 90> n*Mental retardation, autosomal recessive 66+ (WBardet-Biedl syndrome 3/2Hypercalcemia, infantile, 1B kh.Ichthyosis, congenital, autosomal recessive 12F=2Palmoplantar keratoderma and congenital alopecia 20$Macrosomia adiposa congenitaI u5Developmental delay, hypotonia, and impaired language0R -L>Microcephaly, corpus callosum dysgenesis, and cleft lip/palate+yFanconi-Bickel syndromeH I4Neuropathy, hereditary sensory and autonomic, type V' m!Joubert syndrome 31< Gc(Muscular dystrophy, limb-girdle, type 2D7#Retinohepatoendocrinologic syndrome+ qJRetinitis pigmentosa 880 ZPremature ovarian failure 10*Osteoporosis, juvenileUAEpilepsy, progressive myoclonic, 4, with or without renal failure,Hydrolethalus syndrome 1G r&3Mitochondrial complex IV deficiency, nuclear type 3U )ACleft palate, cardiac defect, genital anomalies, and ectrodactylyG -3Holoprosencephaly, semilobar, with craniosynostosis";:Cahmr syndromeJ h]6Short stature, microcephaly, and endocrine dysfunctionW cdCCerebellar ataxia, mental retardation, and dysequilibrium syndrome4RӰ>Methemoglobinemia due to deficiency of methemoglobin reductase6 a"Peroxisome biogenesis disorder 11BVdBNonarteritic anterior ischemic optic neuropathy, susceptibility toJ p 6Mitochondrial DNA depletion syndrome 16 (hepatic type)? f]+Ectodermal dysplasia/short stature syndrome9 t%Craniotubular dysplasia, Ikegawa typeB \q.Congenital disorder of glycosylation, type IIjH r24Mitochondrial complex IV deficiency, nuclear type 14"Refsum disease2 R$Ciliary dyskinesia, primary, 6$vErmine phenotypeT _7@Nephrotic syndrome, type 5, with or without ocular abnormalities+8Frontonasal dysplasia 1^4JBerry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification` qiLDiabetes mellitus, permanent neonatal 3, with or without neurologic features< I(Cardiomyopathy, familial hypertrophic, 8C 1/Muscular dystrophy, congenital, Megaconial typeD h0Combined oxidative phosphorylation deficiency 27%dDIAMINOPENTANURIAEX1Neurodegeneration with brain iron accumulation 2A/ ^Hermansky-Pudlak syndrome 39 PB%Diarrhea 4, malabsorptive, congenital/ ^Heme oxygenase-1 deficiency:jz&Mullerian aplasia and hyperandrogenism2B e.Spinocerebellar ataxia, autosomal recessive 15B k.Hyperphenylalaninemia, MILD, non-bh4-deficient"dLaron syndrome0 ^N-ACETYLASPARTATE DEFICIENCYx adT-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS' k7Nephronophthisis 206 sQ"Dysostosis multiplex, Ain-Naz typeU pAMitochondrial complex V (ATP synthase) deficiency, nuclear type 66 d"Myopathy with extrapyramidal signsn +ZEpidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive8| Fetal iodine deficiency disorderF e2Amelogenesis imperfecta, hypomaturation type, iia5' YImmunodeficiency 10J l6Vertebral, cardiac, renal, and limb defects syndrome 2?;+Camptodactyly syndrome, guadalajara, type I> _*Mental retardation, autosomal recessive 31B a.Peroxisome biogenesis disorder 11A (Zellweger))xFactor VII deficiency> j*Mental retardation, autosomal recessive 56( =mCone-Rod dystrophy 8/ ^Hermansky-Pudlak syndrome 8#Osteoid osteoma@H<,Rhizomelic chondrodysplasia punctata, type 1> a*Spastic paraplegia 53, autosomal recessive/<Wernicke-Korsakoff syndrome-Gastric lymphoma, primary /Geroderma osteodysplasticum# hEAchromatopsia 7/ skCardiomyopathy, dilated, 2D. l{Birk-Landau-Perez syndromeBw.Facial dysmorphism with multiple malformations]IThrombophilia, hereditary, due to protein C deficiency, autosomaldominant& tNoonan syndrome 14Qb=Persistent hyperplastic primary vitreous, autosomal recessive) q.Beck-Fahrner syndrome+ H|Retinitis pigmentosa 26g qSImmunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia%D Mast syndrome D d0Combined oxidative phosphorylation deficiency 18! s VISS syndrome.,Nephrotic syndrome, type 1DÒ0Radiation sensitivity of natural killer activity )0Ataxia-telangiectasiaC r/Erythrokeratodermia variabilis et progressiva 7O +J;Ectodermal dysplasia with mental retardation and syndactyly=)Friedreich ataxia and congenital glaucomaD q0Combined oxidative phosphorylation deficiency 47R6Inosine phosphorylase deficiency, immune defect due to (ʦSpinal arachnoiditis+ f1Bardet-Biedl syndrome 8:9&Vacterl association with hydrocephalus, Myopia, infantile severe4 L Deafness, autosomal recessive 48]IGlutathione synthetase deficiency of erythrocytes, hemolytic anemiadue to! ) ABCD syndrome' `Joubert syndrome 148 T$Osteopetrosis, autosomal recessive 64 I5 Deafness, autosomal recessive 35` s*LNeurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasiaE r1Proteasome-associated autoinflammatory syndrome 52Multiple endocrine neoplasia 1 A a-Peroxisome biogenesis disorder 4A (Zellweger)C p;/Night blindness, congenital stationary, type 1I#4Cousin syndrome>v*Metaphyseal chondrodysplasia, Kaitila type7 V#Coenzyme Q10 deficiency, primary, 4= j)Lethal congenital contracture syndrome 115 ZDGlycogen storage disease XIII