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Neuberg Centre For Genomic Medicine (NCGM), NCGM

General information

Neuberg Centre For Genomic Medicine, NCGM
NCGM
Near GTPL House, Opp. Armieda, Sindhu Bhavan Road, Bodakdev
Ahmedabad
Gujarat
India - 380059
https://ncgmglobal.com/
Organization ID: 508108

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 4780

Gene

GeneSubmissionsLast Updated
AAAS3Dec 7, 2023
AARS14Dec 9, 2023
AARS22Oct 19, 2023
ABCA125Jun 13, 2024
ABCA22May 2, 2024
ABCA31Oct 19, 2023
ABCA47Jun 20, 2024
ABCA76Oct 19, 2023
ABCB1114May 2, 2024
ABCB48Jun 7, 2024
ABCC27Jun 20, 2024
ABCC64Jun 7, 2024
ABCC88May 2, 2024
ABCC92Jun 7, 2024
ABCD18Feb 18, 2024
ABCD42Oct 19, 2023
ABCG51Feb 2, 2022
ABCG82Oct 27, 2023
ABHD14A-ACY12Jun 13, 2024
ABHD51Jun 20, 2024
ACADM5Jun 7, 2024
ACADS2Dec 9, 2023
ACADVL1Dec 12, 2023
ACAN3Oct 19, 2023
ACAT15May 18, 2024
ACD2Jun 20, 2024
ACE6May 2, 2024
ACO22Oct 27, 2023
ACOX13Oct 27, 2023
ACP53Oct 19, 2023
ACSF31Jun 7, 2024
ACTG11Oct 27, 2023
ACTL6B2Oct 19, 2023
ACTN11Dec 7, 2023
ACTN21Dec 7, 2023
ACVR11Feb 2, 2022
ACY12Jun 13, 2024
ADA2Oct 27, 2023
ADA24Nov 24, 2023
ADAMTS101Nov 24, 2023
ADAMTS133May 2, 2024
ADAMTSL41Oct 19, 2023
ADAR1Feb 2, 2022
ADCY103Oct 30, 2023
ADCY54Jun 7, 2024
ADGRG19Nov 24, 2023
ADGRV17Dec 7, 2023
ADH1C1Dec 12, 2023
ADNP2May 2, 2024
ADPRS1Oct 19, 2023
ADSL2Mar 8, 2024
AFF31Jun 7, 2024
AFF41Jun 7, 2024
AFG3L22Oct 27, 2023
AGBL11Dec 7, 2023
AGL14May 18, 2024
AGPAT24May 2, 2024
AGRN5Jun 7, 2024
AGTPBP11Oct 19, 2023
AGXT7Jun 20, 2024
AHDC13May 2, 2024
AHI13Nov 24, 2023
AIMP11Oct 19, 2023
AIMP21Nov 24, 2023
AIRE8Feb 18, 2024
AKAP101Oct 19, 2023
AKR1D12Oct 19, 2023
AKT11Oct 19, 2023
ALAS22Jun 7, 2024
ALDH18A11Jan 9, 2023
ALDH3A21Jan 9, 2023
ALDH5A14Oct 27, 2023
ALDH7A13May 2, 2024
ALG111Oct 19, 2023
ALG134Oct 19, 2023
ALG141May 2, 2024
ALG32Jun 20, 2024
ALG61Nov 23, 2023
ALG81Feb 2, 2022
ALMS18Jun 20, 2024
ALPK33Dec 12, 2023
ALPL2Nov 3, 2023
ALS23Nov 3, 2023
AMD11Oct 19, 2023
AMN1Oct 19, 2023
AMPD21Oct 19, 2023
AMT1Jun 7, 2024
ANK114Jun 20, 2024
ANK22Dec 7, 2023
ANK38May 2, 2024
ANKRD115Nov 23, 2023
ANKRD262Jun 7, 2024
ANLN2Oct 19, 2023
ANO31Oct 19, 2023
ANO52May 2, 2024
ANTXR11Dec 9, 2023
ANTXR22Oct 19, 2023
ANXA51May 2, 2024
AOPEP2Oct 27, 2023
AP1S11Dec 9, 2023
AP3B11Oct 19, 2023
AP3D11Jun 20, 2024
AP4B16Dec 7, 2023
AP4B1-AS15Dec 7, 2023
AP5Z13May 2, 2024
APC7Mar 15, 2024
APOB1May 2, 2024
APP1Oct 19, 2023
APTX3Jun 7, 2024
AQP21Jun 20, 2024
AQP5-AS11Jun 20, 2024
AR3Jun 20, 2024
ARFGEF11Feb 2, 2022
ARFGEF1-DT2May 2, 2024
ARFGEF21Oct 19, 2023
ARG12Dec 9, 2023
ARHGAP313May 2, 2024
ARHGEF101Jun 7, 2024
ARHGEF21May 2, 2024
ARID1A1May 2, 2024
ARID21Jan 9, 2023
ARSA14Jun 20, 2024
ARSB2Nov 23, 2023
ARSK1Nov 24, 2023
ARV11Jan 9, 2023
ARX4Feb 18, 2024
ASAH15Dec 12, 2023
ASH1L6Jun 7, 2024
ASIC4-AS11Oct 19, 2023
ASL1Nov 3, 2023
ASPA2Jan 9, 2023
ASPH1May 2, 2024
ASPM6Jun 20, 2024
ASS13Jun 20, 2024
ASXL11Jun 7, 2024
ASXL21Jun 7, 2024
ASXL32May 2, 2024
ATL11May 2, 2024
ATM36Jun 13, 2024
ATP11C1Oct 19, 2023
ATP13A24Oct 19, 2023
ATP1A12Dec 9, 2023
ATP1A1-AS12Dec 9, 2023
ATP1A23May 2, 2024
ATP1A38Jun 7, 2024
ATP6AP12Oct 19, 2023
ATP6AP21Nov 24, 2023
ATP6V0A410Jun 20, 2024
ATP6V1A2May 2, 2024
ATP6V1B14Oct 27, 2023
ATP7A3Jun 13, 2024
ATP7B41Jun 20, 2024
ATP8A22Jun 7, 2024
ATP8B17Jun 20, 2024
ATP8B1-AS14Jun 20, 2024
ATR1Jun 20, 2024
ATRIP1Jun 7, 2024
ATRIP-TREX11Jun 7, 2024
ATRX2Jun 20, 2024
AXDND11May 2, 2024
AXIN21Dec 7, 2023
B3GALNT22Nov 24, 2023
B9D11Nov 24, 2023
BAAT1Jun 7, 2024
BACH21Dec 7, 2023
BAG32Oct 19, 2023
BAG51Dec 7, 2023
BARD15Jun 20, 2024
BBS11Oct 19, 2023
BBS102Oct 19, 2023
BBS122Oct 19, 2023
BBS25Jun 13, 2024
BBS51Jan 9, 2023
BBS72Oct 19, 2023
BCAS31Nov 24, 2023
BCHE3Dec 12, 2023
BCKDHA3Nov 3, 2023
BCKDHB5Jun 7, 2024
BCL11A1Nov 23, 2023
BCL11B2May 2, 2024
BCOR1Oct 19, 2023
BCORL13Jun 7, 2024
BICD21Feb 2, 2022
BICRA2May 2, 2024
BIVM-ERCC53Jun 7, 2024
BLM3Jun 13, 2024
BLOC1S61Oct 19, 2023
BMPR1A1Jun 13, 2024
BOLA33Jun 20, 2024
BPTF1May 2, 2024
BRAF2Oct 19, 2023
BRAT12Dec 12, 2023
BRCA130Jun 20, 2024
BRCA236May 2, 2024
BRF11Jun 7, 2024
BRIP17Dec 12, 2023
BRPF11Jun 7, 2024
BRWD31Oct 19, 2023
BSCL22Dec 7, 2023
BSND1Dec 9, 2023
BTD8Jun 20, 2024
BTK5Jun 7, 2024
BUB1B1Oct 19, 2023
C11orf6517May 18, 2024
C12orf572Oct 27, 2023
C12orf601Oct 19, 2023
C17orf1076Dec 9, 2023
C19orf124Dec 9, 2023
C1QB1Nov 24, 2023
C1QC1Oct 19, 2023
C2CD34Jun 7, 2024
C31Oct 27, 2023
C51Oct 19, 2023
C61Dec 12, 2023
CA5A2Jun 13, 2024
CABP22Dec 7, 2023
CACNA1A17Jun 7, 2024
CACNA1B1Dec 7, 2023
CACNA1C5Nov 3, 2023
CACNA1C-AS12Nov 3, 2023
CACNA1D3Dec 7, 2023
CACNA1E6Jun 20, 2024
CACNA1F1Dec 7, 2023
CACNA1G4Jun 7, 2024
CACNA1S1Oct 19, 2023
CACNA2D22Dec 12, 2023
CACNB21Oct 19, 2023
CAD1Jan 9, 2023
CAMK2A1Jan 9, 2023
CAMK2B2Dec 12, 2023
CAMK2G1May 2, 2024
CAMTA12Jun 7, 2024
CAPN11Oct 19, 2023
CAPN151Jun 13, 2024
CAPN322Jun 7, 2024
CARD101Nov 24, 2023
CARD112Jun 20, 2024
CARD141Oct 19, 2023
CARMIL22Jun 20, 2024
CARS21Jun 13, 2024
CASD11Oct 19, 2023
CASK5Jun 13, 2024
CASP101Oct 19, 2023
CASQ22Jun 13, 2024
CASR4Dec 7, 2023
CATIP-AS22Jun 7, 2024
CAV11Oct 27, 2023
CAVIN11Jun 13, 2024
CBL2Dec 12, 2023
CBS6Dec 9, 2023
CC2D1A1Oct 19, 2023
CC2D2A5May 2, 2024
CCBE13Dec 12, 2023
CCDC1031Nov 24, 2023
CCDC221Dec 9, 2023
CCDC392Oct 19, 2023
CCDC402May 2, 2024
CCDC471Oct 19, 2023
CCDC88C4Jun 20, 2024
CCDST2Jun 7, 2024
CCN62Jun 7, 2024
CCNF2Oct 27, 2023
CCNH1Jun 7, 2024
CCNO1Dec 12, 2023
CCT51Oct 19, 2023
CD1511Feb 2, 2022
CD2471Oct 19, 2023
CD365Jun 20, 2024
CD3E1Oct 19, 2023
CD461Oct 19, 2023
CD551Jun 20, 2024
CD591Oct 19, 2023
CDAN13Oct 30, 2023
CDC421Oct 19, 2023
CDC42BPB1Jun 7, 2024
CDH14Dec 7, 2023
CDH111Jun 7, 2024
CDH151Jun 7, 2024
CDH232Oct 19, 2023
CDH23-AS11Oct 19, 2023
CDK131Feb 2, 2022
CDK192May 2, 2024
CDK5RAP22May 2, 2024
CDKL59May 2, 2024
CDON1Oct 19, 2023
CELA2A1Nov 23, 2023
CENPF9Jun 20, 2024
CENPJ2Jun 7, 2024
CEP1521Nov 23, 2023
CEP1641Oct 19, 2023
CEP2908May 2, 2024
CEP411Jan 9, 2023
CEP85L2Dec 7, 2023
CERS31Oct 19, 2023
CERT11May 2, 2024
CETP1Oct 27, 2023
CFAP431Oct 19, 2023
CFAP441Feb 2, 2022
CFAP44-AS11Feb 2, 2022
CFAP961Jun 20, 2024
CFB1Dec 7, 2023
CFH2Jun 7, 2024
CFHR52Jun 20, 2024
CFI2Jun 7, 2024
CFTR38Jun 20, 2024
CFTR-AS16Jun 20, 2024
CHAMP12Jun 7, 2024
CHAT2Jun 7, 2024
CHCHD101Feb 2, 2022
CHD22Oct 19, 2023
CHD51Dec 7, 2023
CHD72May 2, 2024
CHD81Jun 13, 2024
CHEK25Jun 7, 2024
CHKB2Oct 19, 2023
CHKB-CPT1B2Oct 19, 2023
CHPT11Feb 2, 2022
CHRNA13May 2, 2024
CHRNA42Jan 9, 2023
CHRNB12Nov 23, 2023
CHRNB21Jun 20, 2024
CHRND1Oct 19, 2023
CHRNE6Dec 9, 2023
CHRNG1Nov 23, 2023
CHST31Oct 19, 2023
CHST62May 2, 2024
CIC5Jun 7, 2024
CIITA1Oct 19, 2023
CIT2Jun 7, 2024
CIZ11Feb 2, 2022
CKAP2L1Oct 19, 2023
CLCN113May 2, 2024
CLCN25Jun 13, 2024
CLCN42Oct 19, 2023
CLCN54May 2, 2024
CLCN74May 2, 2024
CLCNKB5Jun 13, 2024
CLDN161Oct 19, 2023
CLDN193Jun 7, 2024
CLN32Nov 24, 2023
CLN53Oct 19, 2023
CLN63Dec 7, 2023
CLN81Jan 9, 2023
CLP12Oct 19, 2023
CLPB2Jun 13, 2024
CNGA11Dec 12, 2023
CNGA34Oct 27, 2023
CNNM21Oct 19, 2023
CNOT12Jun 13, 2024
CNOT32May 2, 2024
CNP2Jan 9, 2023
CNTNAP13Jun 7, 2024
CNTNAP22Jun 7, 2024
COA71Oct 19, 2023
COASY3Jun 20, 2024
COCH1Dec 12, 2023
COG11Oct 19, 2023
COG51Jun 20, 2024
COL11A11Oct 19, 2023
COL11A22Oct 19, 2023
COL12A18May 2, 2024
COL13A11Dec 12, 2023
COL17A18Jun 7, 2024
COL18A12May 2, 2024
COL1A17Dec 12, 2023
COL1A29Jun 7, 2024
COL27A11Feb 2, 2022
COL2A16Jun 7, 2024
COL4A14Jun 20, 2024
COL4A39Jun 20, 2024
COL4A45Jun 20, 2024
COL4A512Jun 13, 2024
COL5A14Jun 13, 2024
COL5A21Feb 2, 2022
COL6A15Oct 27, 2023
COL6A210May 2, 2024
COL6A37May 2, 2024
COL7A134Jun 7, 2024
COL9A12Dec 12, 2023
COLEC112Oct 19, 2023
COLQ2Dec 7, 2023
COMP5Jun 20, 2024
COPA1Oct 19, 2023
COQ21Oct 19, 2023
COQ42Jun 13, 2024
COQ72Oct 19, 2023
COQ8A1Dec 7, 2023
CP1Oct 19, 2023
CPA63May 2, 2024
CPAMD81Jun 20, 2024
CPLANE15May 2, 2024
CPLX12May 2, 2024
CPS11Oct 19, 2023
CPT1A2Oct 19, 2023
CPT1C1Dec 7, 2023
CR21Feb 2, 2022
CRB12Dec 12, 2023
CRB21Feb 2, 2022
CREBBP14Jun 20, 2024
CRTAP2Oct 19, 2023
CSF1R4Jun 13, 2024
CSF2RA1Oct 19, 2023
CSNK2A12Jun 20, 2024
CSNK2B1Oct 19, 2023
CSPP12Jun 13, 2024
CSTB1Nov 24, 2023
CTC15Jun 7, 2024
CTDP11Jan 9, 2023
CTLA42Jun 7, 2024
CTNNA32Dec 7, 2023
CTNND11Feb 2, 2022
CTNS6Jun 7, 2024
CTNS-AS11Oct 19, 2023
CTRC1Nov 23, 2023
CTSK2Jun 20, 2024
CUBN1Oct 19, 2023
CUL31Jun 7, 2024
CUL4B1Oct 19, 2023
CUL74Oct 27, 2023
CUX13Jun 7, 2024
CUX22Oct 19, 2023
CYB5R33May 2, 2024
CYBA1Nov 23, 2023
CYBB1Oct 27, 2023
CYFIP21Jun 7, 2024
CYLD-AS11Oct 19, 2023
CYP11B12Oct 27, 2023
CYP17A12Oct 19, 2023
CYP1B15May 18, 2024
CYP21A24May 18, 2024
CYP24A11Dec 12, 2023
CYP27A12Jan 9, 2023
CYP27B12Oct 30, 2023
CYP2R11Dec 7, 2023
CYP2U13Jun 7, 2024
CYP2U1-AS11Jun 7, 2024
CYP4F221Oct 19, 2023
CYP7B11Oct 19, 2023
DACT11Jun 7, 2024
DARS21Oct 19, 2023
DBT1Nov 30, 2023
DCAF62Oct 30, 2023
DCDC22Feb 2, 2022
DCHS13Oct 19, 2023
DCLRE1B1Jan 9, 2023
DCLRE1C1Jun 7, 2024
DCPS1Dec 9, 2023
DCTN13Oct 27, 2023
DCX3Oct 19, 2023
DDB21Oct 19, 2023
DDC2Jun 7, 2024
DDX112Jun 20, 2024
DDX3X2Oct 19, 2023
DEAF14May 2, 2024
DEGS11Oct 19, 2023
DEPDC514May 2, 2024
DES5May 2, 2024
DGAT11Feb 2, 2022
DGKE5Oct 27, 2023
DGUOK1Feb 2, 2022
DHODH1Oct 19, 2023
DHTKD12Feb 2, 2022
DHX161Oct 19, 2023
DHX303Nov 24, 2023
DIS3L21Oct 19, 2023
DLAT1May 2, 2024
DLL11Oct 27, 2023
DLL31Jun 7, 2024
DMD22May 2, 2024
DMXL21Jan 27, 2023
DNAAF21May 2, 2024
DNAAF51Jun 7, 2024
DNAH113May 2, 2024
DNAH58Jun 7, 2024
DNAH92Oct 19, 2023
DNAJC213Jun 7, 2024
DNM14Jun 7, 2024
DNM1L2Oct 19, 2023
DNM23Oct 27, 2023
DNMT12Dec 7, 2023
DNMT3A4Jun 20, 2024
DOCK21Oct 19, 2023
DOCK61Dec 9, 2023
DOCK72Feb 2, 2022
DOCK89Dec 9, 2023
DOK73Jun 7, 2024
DONSON1May 2, 2024
DPH21Dec 7, 2023
DRC11Jun 13, 2024
DRD42Oct 19, 2023
DSE1Feb 2, 2022
DSG1-AS12Jun 7, 2024
DSG42Jun 7, 2024
DSP2May 2, 2024
DTNA2Oct 27, 2023
DUOX29Jun 20, 2024
DYM2Jun 7, 2024
DYNC1H113May 2, 2024
DYNC2H14Nov 23, 2023
DYNC2LI11Feb 2, 2022
DYRK1A4Jun 20, 2024
DYRK1B1Jun 7, 2024
DYSF29Jun 13, 2024
DZIP1L2Oct 19, 2023
EARS22Dec 12, 2023
EBF31Oct 19, 2023
EBP3Dec 12, 2023
ECEL12May 2, 2024
ECHS12Jun 7, 2024
ECM12Mar 18, 2024
EDA1Oct 19, 2023
EDAR1May 2, 2024
EDARADD1Oct 19, 2023
EDNRB1Oct 19, 2023
EDNRB-AS11Oct 19, 2023
EEF1A21Oct 19, 2023
EEF22Oct 27, 2023
EGFR1Feb 2, 2022
EGFR-AS11Feb 2, 2022
EGLN11Oct 19, 2023
EHMT13Jun 7, 2024
EIF2AK11Jun 7, 2024
EIF2AK21Nov 24, 2023
EIF2AK31Jun 20, 2024
EIF2AK41Oct 19, 2023
EIF2B13Oct 19, 2023
EIF2B33Jun 20, 2024
EIF2B58Jun 7, 2024
EIF2S34May 2, 2024
EIF4G13May 2, 2024
ELN1Jun 7, 2024
EMC12Jun 20, 2024
EMC1-AS12Jun 20, 2024
EMC101Oct 19, 2023
EMD2May 2, 2024
ENG2Jun 7, 2024
EPAS11Oct 19, 2023
EPB413Nov 23, 2023
EPCAM2Jun 7, 2024
EPG53May 2, 2024
EPM2A3May 2, 2024
EPM2A-DT1May 2, 2024
EPOR1Oct 27, 2023
ERBB31Oct 19, 2023
ERCC32Jun 20, 2024
ERCC53Jun 7, 2024
ERCC66Jun 7, 2024
ERCC6L21Oct 27, 2023
ERCC81May 2, 2024
ESCO21Oct 19, 2023
ESPN2Dec 7, 2023
ETFDH4May 2, 2024
ETHE13Dec 9, 2023
EVC22Nov 23, 2023
EXOC6B1Jun 20, 2024
EXOSC81Jun 7, 2024
EXT15Jun 20, 2024
EXT21Oct 19, 2023
EYA11Jun 13, 2024
EYS2Oct 19, 2023
F101Jun 7, 2024
F116Jun 20, 2024
F13A11Oct 19, 2023
F21Oct 19, 2023
F54May 2, 2024
F72Dec 7, 2023
F810Jun 13, 2024
F92Jun 7, 2024
FA2H4May 2, 2024
FAH9Jun 20, 2024
FAM111B1May 18, 2024
FAM20A1Dec 12, 2023
FANCA24Jun 7, 2024
FANCB2Jun 13, 2024
FANCC3Oct 27, 2023
FANCG2Nov 3, 2023
FANCI4Dec 9, 2023
FANCL2Oct 30, 2023
FANCM2Nov 24, 2023
FASTKD21Oct 19, 2023
FAT11Feb 2, 2022
FAT41Oct 19, 2023
FBLN11Oct 19, 2023
FBN110May 2, 2024
FBN24May 2, 2024
FBP11Jun 20, 2024
FBXL31Oct 19, 2023
FBXL42Jun 7, 2024
FBXO111Dec 12, 2023
FBXO381Feb 2, 2022
FBXO72Jun 20, 2024
FCSK1May 2, 2024
FDXR2Feb 2, 2022
FERMT11Feb 2, 2022
FERMT31Oct 19, 2023
FEZF11Feb 2, 2022
FEZF1-AS11Feb 2, 2022
FGF122Oct 19, 2023
FGF131Nov 24, 2023
FGF141Nov 3, 2023
FGFR11Feb 2, 2022
FGFR24Oct 19, 2023
FGFR34Jun 20, 2024
FGG2Oct 19, 2023
FHOD31Oct 19, 2023
FIG43Oct 19, 2023
FKBP102May 2, 2024
FKTN2Oct 19, 2023
FLCN1Feb 2, 2022
FLG2Jun 7, 2024
FLNA2Nov 3, 2023
FLNB3May 2, 2024
FLNC4Jun 20, 2024
FLNC-AS11Oct 19, 2023
FLT41Oct 19, 2023
FLVCR11Feb 18, 2024
FLVCR21Jun 13, 2024
FMR11Jun 7, 2024
FN13Jun 7, 2024
FOLR13Apr 22, 2024
FOXG19Jun 7, 2024
FOXP14Oct 19, 2023
FOXP21Jan 9, 2023
FOXP31Oct 27, 2023
FOXRED11Oct 19, 2023
FPGT-TNNI3K2Jun 7, 2024
FRAS12Dec 9, 2023
FREM24Dec 12, 2023
FRMPD41Oct 19, 2023
FSIP21Feb 2, 2022
FSIP2-AS11Feb 2, 2022
FUCA11Oct 19, 2023
FUS4Oct 19, 2023
G6PC11Nov 24, 2023
G6PD7Jun 20, 2024
GAA5Jun 20, 2024
GABBR23Nov 24, 2023
GABRA21Jun 7, 2024
GABRA51Oct 19, 2023
GABRB11Oct 19, 2023
GABRD2Oct 19, 2023
GALC8Dec 9, 2023
GALK12Oct 19, 2023
GALNS20Jun 20, 2024
GALNT31Nov 24, 2023
GALT1Oct 27, 2023
GAMT1Jun 20, 2024
GAN1Oct 27, 2023
GAREM21Jun 7, 2024
GARS11Feb 2, 2022
GATA11Dec 7, 2023
GATA21Oct 19, 2023
GATA32Dec 12, 2023
GATM2Oct 19, 2023
GBA12Jun 20, 2024
GBA22Jun 7, 2024
GBE14May 2, 2024
GCDH12May 2, 2024
GCH12Jun 13, 2024
GCK1Jun 7, 2024
GCLC1Nov 23, 2023
GCLC-AS11Nov 23, 2023
GDAP14Oct 27, 2023
GDF51Jun 20, 2024
GEMIN53Nov 24, 2023
GFAP2May 2, 2024
GFI1B1Oct 19, 2023
GFM12Oct 19, 2023
GFM21May 2, 2024
GFPT12Dec 9, 2023
GGPS11Jan 9, 2023
GH-LCR3Oct 27, 2023
GHR2Oct 19, 2023
GHRHR1Nov 3, 2023
GIMAP1-GIMAP51Dec 12, 2023
GIMAP51Dec 12, 2023
GJA51Nov 24, 2023
GJB11Feb 2, 2022
GJB24May 2, 2024
GJB31Jun 20, 2024
GJB61Oct 19, 2023
GJC23Dec 7, 2023
GLA1Jun 2, 2021
GLB111May 2, 2024
GLE11Nov 23, 2023
GLI22Oct 27, 2023
GLI33May 2, 2024
GLRA21Jun 7, 2024
GLS1Nov 24, 2023
GLUD13Oct 27, 2023
GLUD22Dec 12, 2023
GML1Feb 2, 2022
GMPPA1Oct 19, 2023
GMPPB2Oct 19, 2023
GNAO11Oct 19, 2023
GNAS3Jun 7, 2024
GNAS-AS11Jun 7, 2024
GNE10May 2, 2024
GNG12-AS11Oct 19, 2023
GNPTAB3Jun 7, 2024
GNPTG4May 2, 2024
GNRHR1Dec 7, 2023
GOLGA21Jan 9, 2023
GPAA11Oct 19, 2023
GPC32Jun 20, 2024
GPC41Oct 19, 2023
GPD12Dec 9, 2023
GPHN3Jun 20, 2024
GPI4Jun 20, 2024
GPIHBP13Jun 7, 2024
GPR1791May 2, 2024
GPT22Oct 19, 2023
GREB1L2Dec 7, 2023
GRHPR2Dec 7, 2023
GRIA22May 2, 2024
GRIA31Oct 19, 2023
GRIA42Jun 7, 2024
GRIN13Dec 7, 2023
GRIN2A5Jun 7, 2024
GRIN2B10Jun 13, 2024
GRIN2D7Dec 7, 2023
GRK11Dec 12, 2023
GRM61Dec 12, 2023
GRN1Jun 7, 2024
GSDME1May 2, 2024
GSEC1Dec 9, 2023
GSN1Oct 19, 2023
GTPBP32Dec 12, 2023
GUCA1B1Jun 7, 2024
GUCY2D3Oct 27, 2023
GUSB2Jun 7, 2024
GYS24Jun 13, 2024
HACE11Jan 9, 2023
HADHA2Jun 7, 2024
HBA-LCR2May 2, 2024
HBA21May 2, 2024
HBB17Jun 20, 2024
HCN12Jun 7, 2024
HCN21Dec 7, 2023
HCN41May 2, 2024
HDAC41Jun 7, 2024
HECW24May 2, 2024
HEPACAM1Jan 9, 2023
HEPHL11Oct 19, 2023
HERC11Dec 7, 2023
HERC21Nov 24, 2023
HESX11Oct 27, 2023
HEXA9Jun 13, 2024
HEXB6May 2, 2024
HFE2Jun 7, 2024
HFE-AS11Jun 7, 2024
HFM11Oct 27, 2023
HGD3Jun 13, 2024
HGSNAT2May 2, 2024
HIBCH2Jun 7, 2024
HIKESHI1Oct 19, 2023
HIVEP23Jun 7, 2024
HK11Oct 19, 2023
HLCS1Dec 9, 2023
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PYGL11Jun 20, 2024
PYGM1Feb 2, 2022
PYROXD11Oct 19, 2023
QDPR1Oct 19, 2023
QRSL11Jun 7, 2024
RAB27A3Dec 7, 2023
RAB281May 2, 2024
RAB3GAP12Oct 27, 2023
RAB3GAP21Oct 19, 2023
RAB9B2Oct 19, 2023
RAD502Oct 27, 2023
RAD51C4Oct 19, 2023
RAD51D6May 2, 2024
RAD51L3-RFFL6May 2, 2024
RAD54L4Jun 20, 2024
RAF13Oct 19, 2023
RAG11May 2, 2024
RAG21Oct 19, 2023
RANBP22Jun 7, 2024
RARS11May 2, 2024
RARS23Jun 7, 2024
RASA11Jun 7, 2024
RASGRP21Nov 3, 2023
RB13Jun 20, 2024
RDH121Jun 20, 2024
RDX1Oct 19, 2023
RECQL43Nov 24, 2023
REEP11Dec 7, 2023
RELN3Jun 13, 2024
REN1Feb 2, 2022
REPS21Oct 19, 2023
RERE3Oct 19, 2023
RGR1Jun 7, 2024
RHBDF21Jun 20, 2024
RHOBTB27May 2, 2024
RIF15May 2, 2024
RIPK11May 2, 2024
RIT11Jun 7, 2024
RLIM1Oct 19, 2023
RMND11Oct 19, 2023
RNASEH12Oct 27, 2023
RNASEH2A1Feb 2, 2022
RNASEH2B2Nov 24, 2023
RNASEH2C2Jan 9, 2023
RNASEL1Feb 18, 2024
RNF131Oct 19, 2023
RNF171Oct 19, 2023
RNF1701Dec 9, 2023
RNF21Jun 7, 2024
RNF2137Jun 20, 2024
RNF213-AS12Jun 20, 2024
ROBO32Jun 7, 2024
ROBO41Oct 19, 2023
ROGDI2Oct 19, 2023
ROR21Nov 23, 2023
RORA2Oct 19, 2023
RORA-AS11Oct 19, 2023
RORC1Oct 19, 2023
RPA11May 2, 2024
RPE654Nov 24, 2023
RPGR1Oct 19, 2023
RPGRIP1L2Oct 19, 2023
RPL36A-HNRNPH22Oct 19, 2023
RPS193May 2, 2024
RPS242Oct 19, 2023
RPSA1Dec 7, 2023
RRM2B2Jun 20, 2024
RSPH4A1Jun 13, 2024
RSPO11Oct 19, 2023
RTEL17Jun 7, 2024
RTEL1-TNFRSF6B7Jun 7, 2024
RXYLT12Jun 7, 2024
RYR127Jun 7, 2024
RYR23May 2, 2024
SACS9Dec 7, 2023
SAG1Feb 2, 2022
SALL13May 2, 2024
SALL41Jun 7, 2024
SAMD9L2Jun 7, 2024
SAR1B1Jun 2, 2021
SASS61Oct 19, 2023
SBDS4May 18, 2024
SBF21Oct 19, 2023
SCAPER1Dec 9, 2023
SCN10A1Nov 23, 2023
SCN1A45Jun 13, 2024
SCN1A-AS11Oct 27, 2023
SCN1B2Dec 7, 2023
SCN2A21Dec 12, 2023
SCN3A7May 2, 2024
SCN4A5Jun 13, 2024
SCN5A10Jun 13, 2024
SCN8A8Dec 7, 2023
SCN9A1Oct 27, 2023
SCNN1A1Oct 27, 2023
SCUBE31Nov 24, 2023
SCYL21Dec 7, 2023
SDCCAG81Jan 9, 2023
SDHA2May 2, 2024
SDHAF11Oct 19, 2023
SDHB1Feb 2, 2022
SDHC1Oct 19, 2023
SDR9C71Oct 19, 2023
SEC23A1Oct 30, 2023
SEC23B3May 2, 2024
SELENON5Nov 30, 2023
SEPSECS2Jan 9, 2023
SERAC11Oct 19, 2023
SERPINB81Oct 19, 2023
SERPINF12Oct 27, 2023
SERPINH11Oct 19, 2023
SET1Oct 19, 2023
SETBP15Jun 7, 2024
SETD1A3Jun 13, 2024
SETD1B4Jun 7, 2024
SETD22Jun 7, 2024
SETD54May 2, 2024
SETX13Jun 7, 2024
SFTPB1Oct 30, 2023
SFTPC1Oct 19, 2023
SGCA6Dec 7, 2023
SGCB10Jun 20, 2024
SGCE1Oct 19, 2023
SGCG5Dec 9, 2023
SGO11Jun 13, 2024
SGO1-AS11Jun 13, 2024
SGSH3Dec 12, 2023
SH2B32Dec 7, 2023
SH3TC26Jun 7, 2024
SHANK32Dec 7, 2023
SHOC21Nov 24, 2023
SHROOM41Jun 7, 2024
SI2Dec 9, 2023
SIGMAR12Oct 19, 2023
SIK13Nov 24, 2023
SKIC33Jun 13, 2024
SLC12A12Oct 19, 2023
SLC12A22Jun 13, 2024
SLC12A36Nov 23, 2023
SLC13A31Oct 19, 2023
SLC16A22Oct 27, 2023
SLC17A51Jun 7, 2024
SLC18A21Oct 27, 2023
SLC19A12May 2, 2024
SLC19A21Oct 19, 2023
SLC19A31Nov 3, 2023
SLC1A24May 2, 2024
SLC1A42Oct 19, 2023
SLC22A54Jun 7, 2024
SLC25A11Dec 12, 2023
SLC25A121Oct 19, 2023
SLC25A131Oct 19, 2023
SLC25A191Oct 19, 2023
SLC25A222Oct 19, 2023
SLC25A241Oct 19, 2023
SLC26A12May 2, 2024
SLC26A22Jun 7, 2024
SLC26A47Jun 7, 2024
SLC26A51Jun 20, 2024
SLC26A5-AS11Jun 13, 2024
SLC27A41Oct 19, 2023
SLC29A32Jun 7, 2024
SLC2A15Nov 3, 2023
SLC2A21Oct 19, 2023
SLC30A91Jan 9, 2023
SLC34A13Jun 7, 2024
SLC34A33May 2, 2024
SLC35C11Feb 2, 2022
SLC35D11May 2, 2024
SLC35D2-HSD17B31Jun 13, 2024
SLC37A43May 2, 2024
SLC38A83Jun 7, 2024
SLC39A71Oct 19, 2023
SLC3A11Nov 24, 2023
SLC45A12Jun 7, 2024
SLC45A21Oct 19, 2023
SLC4A15Jun 20, 2024
SLC4A112May 2, 2024
SLC52A11Oct 19, 2023
SLC52A22Oct 27, 2023
SLC5A21Oct 19, 2023
SLC6A13May 2, 2024
SLC6A192Oct 19, 2023
SLC6A201Nov 24, 2023
SLC6A31Oct 19, 2023
SLC6A51Oct 19, 2023
SLC7A71May 2, 2024
SLC7A93Jun 20, 2024
SLC9A61Jan 9, 2023
SLC9A71Jan 9, 2023
SLCO1B31Oct 19, 2023
SLCO1B3-SLCO1B71Oct 19, 2023
SLCO2A13May 2, 2024
SLFN143Nov 24, 2023
SLURP12Jun 7, 2024
SLX42Dec 12, 2023
SMAD61Oct 19, 2023
SMARCA22Oct 19, 2023
SMARCA42Nov 23, 2023
SMARCD21Oct 19, 2023
SMC1A4May 2, 2024
SMC31May 2, 2024
SMG91Oct 19, 2023
SMPD19Dec 12, 2023
SMPD41Nov 23, 2023
SMPX1May 2, 2024
SNCB1Feb 18, 2024
SNHG143May 2, 2024
SNHG312Jun 13, 2024
SNX101Nov 23, 2023
SNX141Jan 9, 2023
SOD12Dec 12, 2023
SOD1-DT2Dec 12, 2023
SOHLH11May 2, 2024
SON5Jun 7, 2024
SORD1Jun 20, 2024
SOS14May 2, 2024
SOX103Oct 19, 2023
SOX22Oct 19, 2023
SOX2-OT2Oct 19, 2023
SOX61Jun 7, 2024
SOX91Jun 20, 2024
SPAG12Jun 13, 2024
SPART1Jan 9, 2023
SPAST2Jun 7, 2024
SPATA222Jan 9, 2023
SPG1125Jun 20, 2024
SPG75Dec 12, 2023
SPIDR1Nov 23, 2023
SPINK11Jun 20, 2024
SPINK52Jun 20, 2024
SPR1Oct 19, 2023
SPRED11Jun 7, 2024
SPTA18Dec 9, 2023
SPTAN14Oct 27, 2023
SPTB16Jun 7, 2024
SPTBN14Jun 7, 2024
SPTBN1-AS21Jun 7, 2024
SPTBN27May 2, 2024
SPTBN44Nov 24, 2023
SQSTM12Oct 19, 2023
SRC1Oct 19, 2023
SRCAP2Dec 7, 2023
SRD5A31Jan 9, 2023
SRP541Dec 12, 2023
SRP721Oct 19, 2023
SSR41May 2, 2024
ST3GAL31Feb 2, 2022
STAG23Jun 20, 2024
STAMBP1Dec 9, 2023
STAR3Jun 20, 2024
STARD91Jan 27, 2023
STAT13Oct 19, 2023
STAT21Jun 20, 2024
STAT34May 2, 2024
STAT5B2May 2, 2024
STIL2Dec 7, 2023
STIM12Oct 19, 2023
STING11Jun 13, 2024
STK113Oct 19, 2023
STON1-GTF2A1L1Feb 2, 2022
STUB12May 2, 2024
STXBP18Jun 7, 2024
STXBP22Jun 13, 2024
SUGCT1May 2, 2024
SUMF12Dec 12, 2023
SUOX2Dec 9, 2023
SUPT16H1May 2, 2024
SURF17Jun 20, 2024
SYN11Oct 19, 2023
SYNE110Nov 24, 2023
SYNE1-AS11Oct 19, 2023
SYNE27Jun 20, 2024
SYNGAP15Jun 7, 2024
SYNGAP1-AS14Oct 27, 2023
SYNJ11Oct 19, 2023
SYP1Jun 20, 2024
SYP-AS11Jun 20, 2024
SZT28Jun 20, 2024
TAF13May 2, 2024
TAF22Oct 19, 2023
TALDO11Oct 19, 2023
TANC23Jun 13, 2024
TANGO22Oct 19, 2023
TARS22Jun 7, 2024
TBC1D244Dec 7, 2023
TBC1D8B2Oct 19, 2023
TBCD3Dec 7, 2023
TBCK1Feb 2, 2022
TBK12Oct 27, 2023
TBR12Jan 9, 2023
TBX31Oct 27, 2023
TBX62Jun 7, 2024
TBXAS11Oct 19, 2023
TCAP1Jun 7, 2024
TCF206Jun 7, 2024
TCF33Oct 19, 2023
TCF41Nov 24, 2023
TCIRG14Dec 12, 2023
TCN21Jun 20, 2024
TCOF12May 2, 2024
TCTN31Jun 7, 2024
TECPR21Oct 19, 2023
TELO21Oct 19, 2023
TENM43Dec 7, 2023
TERT2Oct 27, 2023
TET35Jun 13, 2024
TEX152May 2, 2024
TEX91Jun 7, 2024
TF1Jun 7, 2024
TFAM1Oct 19, 2023
TFAP2A1Oct 27, 2023
TFAP2A-AS21Oct 27, 2023
TFE31Dec 7, 2023
TFG1Feb 2, 2022
TGDS1Oct 19, 2023
TGFB12May 2, 2024
TGFB22Jun 7, 2024
TGFBI1Nov 24, 2023
TGFBR21Oct 19, 2023
TGM111Jun 13, 2024
TGM62May 2, 2024
TH6Dec 12, 2023
TH2LCRR1Oct 19, 2023
THBD1Mar 15, 2024
THOC62Dec 12, 2023
THRB1Feb 2, 2022
TINF21Jun 20, 2024
TJP23Jun 20, 2024
TK24May 2, 2024
TLR33Jun 7, 2024
TMC12Dec 7, 2023
TMEM106B2Nov 24, 2023
TMEM1381May 2, 2024
TMEM2161Nov 24, 2023
TMEM2601Dec 12, 2023
TMEM432Oct 19, 2023
TMEM63A2May 2, 2024
TMEM671Oct 19, 2023
TMEM701May 2, 2024
TMIE2Dec 12, 2023
TMPPE2Oct 19, 2023
TMPRSS152Dec 12, 2023
TMX22Feb 18, 2024
TMX2-CTNND13Feb 18, 2024
TNC1May 2, 2024
TNFAIP32Dec 7, 2023
TNFRSF11A1Jan 9, 2023
TNFRSF13B1Dec 7, 2023
TNNC11Oct 19, 2023
TNNI33Jun 20, 2024
TNNI3K2Jun 7, 2024
TNNT12May 2, 2024
TNNT22Jun 7, 2024
TNNT31May 2, 2024
TNPO32Oct 19, 2023
TNR1Mar 18, 2024
TNRC6B4Jun 13, 2024
TNXB3May 18, 2024
TOGARAM11Nov 24, 2023
TONSL2Feb 2, 2022
TOR1A1Nov 3, 2023
TP538Nov 24, 2023
TPK11Feb 2, 2022
TPM22Oct 27, 2023
TPM31Oct 19, 2023
TPO1Oct 27, 2023
TPP16Jun 7, 2024
TPR1Oct 27, 2023
TPRN1Dec 9, 2023
TRAF3IP11May 2, 2024
TRAF72Jun 7, 2024
TRAPPC101Oct 19, 2023
TRAPPC124Oct 19, 2023
TRAPPC12-AS11Feb 2, 2022
TRAPPC2L1Jun 7, 2024
TRAPPC93Jun 7, 2024
TRB6Jun 20, 2024
TRDN2May 2, 2024
TREX11Jun 7, 2024
TRIM371Jun 7, 2024
TRIM59-IFT802May 2, 2024
TRIO1May 2, 2024
TRIOBP1Nov 23, 2023
TRIP111Dec 9, 2023
TRIP122Nov 23, 2023
TRIP41Nov 3, 2023
TRIT11Oct 19, 2023
TRMT11Feb 2, 2022
TROAP-AS11May 2, 2024
TRPC31Jun 7, 2024
TRPC64May 2, 2024
TRPM11Feb 2, 2022
TRPM41Oct 19, 2023
TRPM61Oct 19, 2023
TRPS11Jun 7, 2024
TRPV44Jun 7, 2024
TRPV61Oct 19, 2023
TRRAP7Jun 7, 2024
TSC14Jun 7, 2024
TSC212May 2, 2024
TSPAN14Dec 9, 2023
TSPYL11Feb 2, 2022
TTBK21Oct 19, 2023
TTC194Nov 3, 2023
TTC52Jun 7, 2024
TTC7A2Oct 19, 2023
TTC82Nov 3, 2023
TTN13Jun 7, 2024
TTN-AS19May 2, 2024
TTR1Jun 13, 2024
TUBA1A2Jan 9, 2023
TUBB2A2Feb 2, 2022
TUBB31Oct 19, 2023
TUBB4A1Dec 7, 2023
TUBB61Oct 27, 2023
TUBG11May 2, 2024
TULP11Feb 2, 2022
TWNK1Nov 24, 2023
TYR9May 2, 2024
TYRP11Oct 27, 2023
UBA11Oct 19, 2023
UBA51May 2, 2024
UBE3A3May 2, 2024
UBE3B1Oct 19, 2023
UFSP21Jun 20, 2024
UGP21Jan 9, 2023
UGT1A10Jun 13, 2024
UGT1A110Jun 13, 2024
UGT1A1010Jun 13, 2024
UGT1A310Jun 13, 2024
UGT1A410Jun 13, 2024
UGT1A510Jun 13, 2024
UGT1A610Jun 13, 2024
UGT1A710Jun 13, 2024
UGT1A810Jun 13, 2024
UGT1A910Jun 13, 2024
UMOD4Dec 9, 2023
UNC13D5Nov 24, 2023
UNC802Jun 7, 2024
UQCRC12Jun 7, 2024
UROD1May 2, 2024
UROS1Dec 12, 2023
USH1C1Dec 7, 2023
USH2A10Jun 13, 2024
USP536Jun 20, 2024
USP9X2Oct 27, 2023
VAC142Dec 12, 2023
VARS21Nov 23, 2023
VDR2Oct 19, 2023
VHL1Dec 7, 2023
VLDLR3Oct 27, 2023
VMA211Oct 19, 2023
VPS13A7Dec 7, 2023
VPS13B3Dec 9, 2023
VPS13C3May 2, 2024
VPS13D3May 2, 2024
VPS4A1Dec 9, 2023
VRK21Oct 30, 2023
VWF6Jun 20, 2024
WARS11May 2, 2024
WARS21Feb 2, 2022
WAS3Oct 19, 2023
WASHC53Oct 27, 2023
WBP111Oct 19, 2023
WDPCP1Oct 19, 2023
WDR111Oct 19, 2023
WDR192Jun 13, 2024
WDR361Oct 27, 2023
WDR41Oct 19, 2023
WDR622Jun 7, 2024
WDR733Jun 7, 2024
WDR812Nov 3, 2023
WFS13Dec 9, 2023
WIPI21Dec 7, 2023
WLS1Oct 19, 2023
WNT5A1Nov 3, 2023
WT14May 2, 2024
WWOX1Oct 19, 2023
XDH3May 2, 2024
XIAP1Jun 13, 2024
XPC1Oct 19, 2023
XYLT11Oct 19, 2023
YARS11May 18, 2024
YARS21Oct 19, 2023
ZBTB181Jun 20, 2024
ZBTB201Nov 24, 2023
ZBTB241Dec 12, 2023
ZC4H23Dec 7, 2023
ZDHHC241Oct 19, 2023
ZDHHC91Oct 19, 2023
ZEB27May 2, 2024
ZFYVE262Dec 7, 2023
ZIC31Jun 7, 2024
ZMPSTE241Dec 12, 2023
ZMYND111May 2, 2024
ZNF1422Oct 19, 2023
ZNF2766Dec 7, 2023
ZNF2926Jun 7, 2024
ZNF4071Jun 13, 2024
ZNF4233May 2, 2024
ZNF4623May 2, 2024
ZNF6991Jan 9, 2023
ZP31Nov 23, 2023
ZSWIM62Jun 7, 2024

Condition

NameSubmissionsLast Updated
3 beta-Hydroxysteroid dehydrogenase deficiency2Nov 24, 2023
3-Methylglutaconic aciduria type 31Oct 19, 2023
3-hydroxy-3-methylglutaryl-CoA synthase deficiency2Feb 2, 2022
3-methylcrotonyl-CoA carboxylase 2 deficiency1Nov 30, 2023
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Oct 19, 2023
3-methylglutaconic aciduria, type VIIA2Jun 13, 2024
3M syndrome 14Oct 27, 2023
3M syndrome 26Jun 20, 2024
3MC syndrome 22Oct 19, 2023
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1Oct 19, 2023
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2May 2, 2024
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome3May 2, 2024
ALG11-congenital disorder of glycosylation1Oct 19, 2023
ALG3-congenital disorder of glycosylation2Jun 20, 2024
ALG6-congenital disorder of glycosylation 1C1Nov 23, 2023
Abdominal obesity-metabolic syndrome 31Jun 7, 2024
Abdominal obesity-metabolic syndrome 41Nov 23, 2023
Abetalipoproteinaemia1Oct 19, 2023
Abortive cerebellar ataxia4Jun 7, 2024
Achondroplasia2Jun 20, 2024
Achromatopsia 24Oct 27, 2023
Acne inversa, familial, 21Oct 19, 2023
Acrocephalosyndactyly type I2Feb 2, 2022
Acroerythrokeratoderma2Jun 7, 2024
Acrofacial dysostosis Cincinnati type1Jun 7, 2024
Actin accumulation myopathy1Dec 7, 2023
Acute febrile neutrophilic dermatosis1May 2, 2024
Acute intermittent porphyria7Jun 20, 2024
Acute myeloid leukemia1Oct 19, 2023
Acyl-CoA oxidase deficiency2Oct 27, 2023
Adams-Oliver syndrome 13May 2, 2024
Adams-Oliver syndrome 21Dec 9, 2023
Adenylosuccinate lyase deficiency2Mar 8, 2024
Adrenoleukodystrophy8Feb 18, 2024
Adult-onset autosomal dominant demyelinating leukodystrophy1Oct 19, 2023
Agammaglobulinemia 8, autosomal dominant3Oct 19, 2023
Agammaglobulinemia 9, autosomal recessive1Oct 19, 2023
Aicardi-Goutieres syndrome 22Nov 24, 2023
Aicardi-Goutieres syndrome 32Jan 9, 2023
Aicardi-Goutieres syndrome 41Feb 2, 2022
Aicardi-Goutieres syndrome 61Feb 2, 2022
Al-Raqad syndrome1Dec 9, 2023
Alacrima, achalasia, and intellectual disability syndrome1Oct 19, 2023
Alagille syndrome due to a JAG1 point mutation6Jun 7, 2024
Alagille syndrome due to a NOTCH2 point mutation2May 2, 2024
Aldosterone-producing adenoma with seizures and neurological abnormalities2Dec 7, 2023
Alexander disease2May 2, 2024
Alkaptonuria3Jun 13, 2024
Allan-Herndon-Dudley syndrome2Oct 27, 2023
Alopecia-intellectual disability syndrome 41Jun 20, 2024
Alpha thalassemia-X-linked intellectual disability syndrome1Jun 20, 2024
Alpha-N-acetylgalactosaminidase deficiency type 11Oct 19, 2023
Alstrom syndrome8Jun 20, 2024
Alternating hemiplegia of childhood 11Jan 9, 2023
Alternating hemiplegia of childhood 23Nov 3, 2023
Alzheimer disease 32Oct 27, 2023
Alzheimer disease 96Oct 19, 2023
Alzheimer disease type 12Oct 19, 2023
Amelocerebrohypohidrotic syndrome2Oct 19, 2023
Amelogenesis imperfecta type 1G1Dec 12, 2023
Aminoacylase 1 deficiency2Jun 13, 2024
Amyotrophic lateral sclerosis type 14May 2, 2024
Amyotrophic lateral sclerosis type 211Oct 19, 2023
Amyotrophic lateral sclerosis type 46May 2, 2024
Amyotrophic lateral sclerosis type 63Oct 19, 2023
Androgen resistance syndrome2Feb 2, 2022
Anemia, congenital dyserythropoietic, type 1a3Oct 30, 2023
Anemia, nonspherocytic hemolytic, due to G6PD deficiency7Jun 20, 2024
Anencephaly 21Nov 24, 2023
Angelman syndrome3May 2, 2024
Annular epidermolytic ichthyosis1Feb 2, 2022
Anophthalmia/microphthalmia-esophageal atresia syndrome2Oct 19, 2023
Anterior segment dysgenesis 62May 2, 2024
Anterior segment dysgenesis 81Jun 20, 2024
Aortic aneurysm, familial thoracic 41Oct 19, 2023
Aortic valve disease 21Oct 19, 2023
Aortic valve disease 31Oct 19, 2023
Apparent mineralocorticoid excess1Dec 9, 2023
Arginase deficiency2Dec 9, 2023
Argininosuccinate lyase deficiency1Nov 3, 2023
Ariboflavinosis1Oct 19, 2023
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma1Oct 19, 2023
Arrhythmogenic right ventricular dysplasia 132Dec 7, 2023
Arrhythmogenic right ventricular dysplasia 21Feb 2, 2022
Arrhythmogenic right ventricular dysplasia 51Feb 2, 2022
Arrhythmogenic right ventricular dysplasia 81May 2, 2024
Arrhythmogenic right ventricular dysplasia 93Oct 30, 2023
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect1Jun 7, 2024
Arthrogryposis multiplex congenita 3, myogenic type5Oct 19, 2023
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum1Dec 7, 2023
Arthrogryposis multiplex congenita 63Jun 7, 2024
Arthrogryposis, distal, IIa 111Dec 12, 2023
Arthrogryposis, distal, type 2B21May 2, 2024
Arthrogryposis, distal, with impaired proprioception and touch3Oct 27, 2023
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1Oct 19, 2023
Asphyxiating thoracic dystrophy 21May 2, 2024
Asphyxiating thoracic dystrophy 34Nov 23, 2023
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1Oct 19, 2023
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia3Jun 7, 2024
Ataxia-pancytopenia syndrome1Dec 9, 2023
Ataxia-telangiectasia syndrome19May 2, 2024
Ataxia-telangiectasia-like disorder 13May 2, 2024
Atelosteogenesis type II1Jun 7, 2024
Atransferrinemia1Jun 7, 2024
Atrial conduction disease2Jun 7, 2024
Atrial fibrillation, familial, 73Dec 7, 2023
Atrial septal defect 71Oct 19, 2023
Atrial standstill 11Nov 24, 2023
Atrophia bulborum hereditaria1Jun 7, 2024
Atypical hemolytic-uremic syndrome with B factor anomaly1Dec 7, 2023
Atypical hemolytic-uremic syndrome with C3 anomaly1Oct 27, 2023
Atypical hemolytic-uremic syndrome with I factor anomaly1Nov 24, 2023
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1Oct 19, 2023
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1Mar 15, 2024
Auditory neuropathy-optic atrophy syndrome2Feb 2, 2022
Auriculocondylar syndrome 21May 2, 2024
Autism, susceptibility to, 52Jan 9, 2023
Autism, susceptibility to, X-linked 21Jun 7, 2024
Autism, susceptibility to, X-linked 32Jun 7, 2024
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome3Oct 19, 2023
Autoimmune interstitial lung disease-arthritis syndrome1Oct 19, 2023
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency2Jun 7, 2024
Autoimmune lymphoproliferative syndrome type 2A1Oct 19, 2023
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation2May 2, 2024
Autoinflammatory syndrome, familial, Behcet-like 12Dec 7, 2023
Autosomal dominant Alport syndrome3Jun 7, 2024
Autosomal dominant Parkinson disease 83Jun 7, 2024
Autosomal dominant Robinow syndrome 11Nov 3, 2023
Autosomal dominant aplasia and myelodysplasia1Oct 19, 2023
Autosomal dominant centronuclear myopathy1Feb 2, 2022
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1Dec 7, 2023
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1Feb 2, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures2May 2, 2024
Autosomal dominant distal renal tubular acidosis1Oct 19, 2023
Autosomal dominant hypocalcemia 12Oct 19, 2023
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome3Jun 7, 2024
Autosomal dominant limb-girdle muscular dystrophy type 1F2Oct 19, 2023
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency1Oct 19, 2023
Autosomal dominant nocturnal frontal lobe epilepsy 11Feb 2, 2022
Autosomal dominant nocturnal frontal lobe epilepsy 31Jun 20, 2024
Autosomal dominant nocturnal frontal lobe epilepsy 53Dec 7, 2023
Autosomal dominant nonsyndromic hearing loss 111Feb 2, 2022
Autosomal dominant nonsyndromic hearing loss 171Feb 2, 2022
Autosomal dominant nonsyndromic hearing loss 201Oct 27, 2023
Autosomal dominant nonsyndromic hearing loss 221Oct 19, 2023
Autosomal dominant nonsyndromic hearing loss 2A2Oct 27, 2023
Autosomal dominant nonsyndromic hearing loss 3B1Oct 19, 2023
Autosomal dominant nonsyndromic hearing loss 4A2Dec 7, 2023
Autosomal dominant nonsyndromic hearing loss 51May 2, 2024
Autosomal dominant nonsyndromic hearing loss 561May 2, 2024
Autosomal dominant optic atrophy classic form1Jun 7, 2024
Autosomal dominant osteopetrosis 11Oct 27, 2023
Autosomal dominant osteopetrosis 21Oct 27, 2023
Autosomal dominant sensory ataxia 11Dec 9, 2023
Autosomal dominant slowed nerve conduction velocity1Jun 7, 2024
Autosomal recessive Alport syndrome8Jun 20, 2024
Autosomal recessive DOPA responsive dystonia6Dec 12, 2023
Autosomal recessive Robinow syndrome1Nov 23, 2023
Autosomal recessive ataxia due to ubiquinone deficiency1Dec 7, 2023
Autosomal recessive ataxia, Beauce type1Oct 19, 2023
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome3May 2, 2024
Autosomal recessive complex spastic paraplegia type 9B1Jan 9, 2023
Autosomal recessive congenital ichthyosis 111Jun 13, 2024
Autosomal recessive congenital ichthyosis 103Nov 3, 2023
Autosomal recessive congenital ichthyosis 4A3Jun 13, 2024
Autosomal recessive congenital ichthyosis 4B2Oct 19, 2023
Autosomal recessive congenital ichthyosis 51Oct 19, 2023
Autosomal recessive congenital ichthyosis 62Oct 19, 2023
Autosomal recessive congenital ichthyosis 91Oct 19, 2023
Autosomal recessive distal spinal muscular atrophy 12May 2, 2024
Autosomal recessive distal spinal muscular atrophy 22Oct 19, 2023
Autosomal recessive early-onset Parkinson disease 233May 2, 2024
Autosomal recessive early-onset Parkinson disease 63Jun 7, 2024
Autosomal recessive early-onset Parkinson disease 71Feb 2, 2022
Autosomal recessive hypophosphatemic bone disease3May 2, 2024
Autosomal recessive inherited pseudoxanthoma elasticum3Nov 30, 2023
Autosomal recessive juvenile Parkinson disease 21Jun 20, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2A20Jun 7, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2B24Jun 13, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2C5Dec 9, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2D6Dec 7, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2E10Jun 20, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2G1Jun 7, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2J5May 2, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2L2May 2, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2M2Oct 19, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2N1Jun 7, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2O2Oct 19, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2Q2Dec 12, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2T2Oct 19, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2W1Oct 19, 2023
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency1Oct 19, 2023
Autosomal recessive nonsyndromic hearing loss 122Oct 19, 2023
Autosomal recessive nonsyndromic hearing loss 18A1Dec 7, 2023
Autosomal recessive nonsyndromic hearing loss 18B2Oct 27, 2023
Autosomal recessive nonsyndromic hearing loss 1A3May 2, 2024
Autosomal recessive nonsyndromic hearing loss 23Jun 7, 2024
Autosomal recessive nonsyndromic hearing loss 221Feb 2, 2022
Autosomal recessive nonsyndromic hearing loss 241Oct 19, 2023
Autosomal recessive nonsyndromic hearing loss 281Nov 23, 2023
Autosomal recessive nonsyndromic hearing loss 37Jun 13, 2024
Autosomal recessive nonsyndromic hearing loss 303Jun 7, 2024
Autosomal recessive nonsyndromic hearing loss 362Dec 7, 2023
Autosomal recessive nonsyndromic hearing loss 46Jun 7, 2024
Autosomal recessive nonsyndromic hearing loss 591May 2, 2024
Autosomal recessive nonsyndromic hearing loss 62Dec 12, 2023
Autosomal recessive nonsyndromic hearing loss 611Jun 20, 2024
Autosomal recessive nonsyndromic hearing loss 72Dec 7, 2023
Autosomal recessive nonsyndromic hearing loss 701Dec 9, 2023
Autosomal recessive nonsyndromic hearing loss 741May 2, 2024
Autosomal recessive nonsyndromic hearing loss 772Dec 12, 2023
Autosomal recessive nonsyndromic hearing loss 791Dec 9, 2023
Autosomal recessive nonsyndromic hearing loss 81Jun 20, 2024
Autosomal recessive nonsyndromic hearing loss 861Dec 7, 2023
Autosomal recessive nonsyndromic hearing loss 93Jun 13, 2024
Autosomal recessive nonsyndromic hearing loss 932Dec 7, 2023
Autosomal recessive osteopetrosis 13Dec 12, 2023
Autosomal recessive osteopetrosis 43May 2, 2024
Autosomal recessive osteopetrosis 71Jan 9, 2023
Autosomal recessive osteopetrosis 81Nov 23, 2023
Autosomal recessive pseudohypoaldosteronism type 11Oct 27, 2023
Autosomal recessive spastic paraplegia type 761Oct 19, 2023
Autosomal recessive spastic paraplegia type 783Oct 19, 2023
Autosomal recessive spinocerebellar ataxia 146Oct 19, 2023
Autosomal recessive spinocerebellar ataxia 161Oct 19, 2023
Autosomal recessive spinocerebellar ataxia 21Oct 27, 2023
Autosomal recessive spinocerebellar ataxia 201Jan 9, 2023
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 202Oct 19, 2023
Baller-Gerold syndrome2Oct 19, 2023
Bardet-Biedl syndrome 11Oct 19, 2023
Bardet-Biedl syndrome 102Oct 19, 2023
Bardet-Biedl syndrome 122Oct 19, 2023
Bardet-Biedl syndrome 141Dec 7, 2023
Bardet-Biedl syndrome 25Jun 13, 2024
Bardet-Biedl syndrome 51Jan 9, 2023
Bardet-Biedl syndrome 61Oct 19, 2023
Bardet-Biedl syndrome 72Oct 19, 2023
Bardet-Biedl syndrome 82Nov 3, 2023
Bartter disease type 11Oct 19, 2023
Bartter disease type 21Jun 20, 2024
Bartter disease type 35Jun 13, 2024
Bartter disease type 4A1Dec 9, 2023
Beck-Fahrner syndrome5Jun 13, 2024
Becker muscular dystrophy2Oct 19, 2023
Benign familial hematuria2Oct 19, 2023
Benign recurrent intrahepatic cholestasis type 12May 2, 2024
Benign recurrent intrahepatic cholestasis type 23May 2, 2024
Beta-D-mannosidosis1Oct 19, 2023
Beta-hydroxyisobutyryl-CoA deacylase deficiency2Jun 7, 2024
Beta-thalassemia HBB/LCRB10Jun 20, 2024
Bethlem myopathy 1A9May 2, 2024
Bethlem myopathy 27May 2, 2024
Bifunctional peroxisomal enzyme deficiency5Dec 12, 2023
Bilateral frontoparietal polymicrogyria8Nov 24, 2023
Bilateral parasagittal parieto-occipital polymicrogyria1Oct 19, 2023
Bile acid conjugation defect 11Jun 7, 2024
Biotin-responsive basal ganglia disease1Nov 3, 2023
Biotinidase deficiency8Jun 20, 2024
Birt-Hogg-Dube syndrome1Feb 2, 2022
Blau syndrome2Oct 19, 2023
Blepharocheilodontic syndrome 11Nov 23, 2023
Blepharocheilodontic syndrome 21Feb 2, 2022
Blepharophimosis - intellectual disability syndrome, SBBYS type1Oct 19, 2023
Blepharophimosis-impaired intellectual development syndrome1Jan 9, 2023
Bloom syndrome3Jun 13, 2024
Bohring-Opitz syndrome1Jun 7, 2024
Bone marrow failure syndrome 33Jun 7, 2024
Bone marrow failure syndrome 42Jun 20, 2024
Bone marrow failure syndrome 51Oct 19, 2023
Bone osteosarcoma1Dec 9, 2023
Brain abnormalities, neurodegeneration, and dysosteosclerosis1Oct 19, 2023
Brain dopamine-serotonin vesicular transport disease1Oct 27, 2023
Brain small vessel disease 1 with or without ocular anomalies4Jun 20, 2024
Branchiooculofacial syndrome1Oct 27, 2023
Branchiootorenal syndrome 11Jun 13, 2024
Breast-ovarian cancer, familial, susceptibility to, 135Jun 20, 2024
Breast-ovarian cancer, familial, susceptibility to, 231May 2, 2024
Breast-ovarian cancer, familial, susceptibility to, 33Oct 19, 2023
Breast-ovarian cancer, familial, susceptibility to, 46May 2, 2024
Breast-ovarian cancer, familial, susceptibility to, 52Dec 7, 2023
Brittle cornea syndrome 21Oct 19, 2023
Brown-Vialetto-van Laere syndrome 22Oct 27, 2023
Bruck syndrome 21Feb 2, 2022
Brugada syndrome 17Jun 13, 2024
Brugada syndrome 41Oct 19, 2023
Brugada syndrome 91Oct 19, 2023
C1Q deficiency2Nov 24, 2023
C3 glomerulonephritis1Jun 20, 2024
CBL-related disorder2Dec 12, 2023
CFHR5 deficiency1May 2, 2024
CHARGE syndrome2May 2, 2024
COG1 congenital disorder of glycosylation1Oct 19, 2023
COG5-congenital disorder of glycosylation1Jun 20, 2024
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1Oct 27, 2023
Camptomelic dysplasia1Jun 20, 2024
Candidiasis, familial, 61Oct 19, 2023
Capillary malformation-arteriovenous malformation 11Jun 7, 2024
Cardiac anomalies - developmental delay - facial dysmorphism syndrome5Jun 7, 2024
Cardiac arrhythmia, ankyrin-B-related2Dec 7, 2023
Cardiac valvular defect, developmental1Dec 9, 2023
Cardiac, facial, and digital anomalies with developmental delay2Jun 7, 2024
Cardiac-urogenital syndrome1Jun 7, 2024
Cardiofaciocutaneous syndrome 31Jan 9, 2023
Cardiomyopathy, dilated, 2F1Dec 7, 2023
Cardiomyopathy, familial hypertrophic 273Dec 12, 2023
Cardiomyopathy, familial hypertrophic, 281Oct 19, 2023
Cardiomyopathy, familial restrictive, 12Jun 20, 2024
Carnitine palmitoyl transferase 1A deficiency2Oct 19, 2023
Catecholaminergic polymorphic ventricular tachycardia 12May 2, 2024
Catecholaminergic polymorphic ventricular tachycardia 22Jun 13, 2024
Catecholaminergic polymorphic ventricular tachycardia 52May 2, 2024
Catel-Manzke syndrome1Oct 19, 2023
Central core myopathy24Jun 7, 2024
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 13Oct 27, 2023
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 22Nov 3, 2023
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 42Jun 7, 2024
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome2Apr 22, 2024
Cerebellar atrophy with seizures and variable developmental delay2Dec 12, 2023
Cerebellar atrophy, developmental delay, and seizures1Oct 19, 2023
Cerebellar atrophy, visual impairment, and psychomotor retardation;2Jun 20, 2024
Cerebellar dysfunction with variable cognitive and behavioral abnormalities2Jun 7, 2024
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome1Dec 9, 2023
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11Jun 20, 2024
Cerebral folate transport deficiency3Apr 22, 2024
Cerebral palsy, spastic quadriplegic, 21Oct 19, 2023
Cerebrooculofacioskeletal syndrome 31May 2, 2024
Cerebroretinal microangiopathy with calcifications and cysts 15Jun 7, 2024
Ceroid lipofuscinosis, neuronal, 6A3Dec 7, 2023
Charcot-Marie-Tooth disease X-linked dominant 11Feb 2, 2022
Charcot-Marie-Tooth disease axonal type 2F1Dec 7, 2023
Charcot-Marie-Tooth disease axonal type 2O2Oct 19, 2023
Charcot-Marie-Tooth disease axonal type 2P2Oct 19, 2023
Charcot-Marie-Tooth disease axonal type 2Q2Feb 2, 2022
Charcot-Marie-Tooth disease axonal type 2S2Feb 2, 2022
Charcot-Marie-Tooth disease axonal type 2T6Jun 13, 2024
Charcot-Marie-Tooth disease axonal type 2X3Jun 20, 2024
Charcot-Marie-Tooth disease axonal type 2Z2Jun 20, 2024
Charcot-Marie-Tooth disease dominant intermediate B2Oct 27, 2023
Charcot-Marie-Tooth disease dominant intermediate C1May 18, 2024
Charcot-Marie-Tooth disease recessive intermediate A2Oct 27, 2023
Charcot-Marie-Tooth disease recessive intermediate C4Jun 7, 2024
Charcot-Marie-Tooth disease type 1B1Oct 27, 2023
Charcot-Marie-Tooth disease type 1E1Oct 19, 2023
Charcot-Marie-Tooth disease type 1F1Oct 19, 2023
Charcot-Marie-Tooth disease type 2A11Oct 19, 2023
Charcot-Marie-Tooth disease type 2A27Jun 7, 2024
Charcot-Marie-Tooth disease type 2E1Jun 20, 2024
Charcot-Marie-Tooth disease type 2I1Oct 27, 2023
Charcot-Marie-Tooth disease type 4A2Oct 27, 2023
Charcot-Marie-Tooth disease type 4B11Oct 19, 2023
Charcot-Marie-Tooth disease type 4B21Oct 19, 2023
Charcot-Marie-Tooth disease type 4C6Jun 7, 2024
Charcot-Marie-Tooth disease type 4D1Feb 2, 2022
Charcot-Marie-Tooth disease type 4E1Jun 7, 2024
Charcot-Marie-Tooth disease type 4G1Oct 19, 2023
Charcot-Marie-Tooth disease type 4J1Oct 19, 2023
Charcot-Marie-Tooth disease type 4K1Dec 12, 2023
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;2May 18, 2024
Charcot-Marie-Tooth disease, axonal, type 2EE1May 2, 2024
Charcot-Marie-Tooth disease, demyelinating, IIA 1I1Nov 24, 2023
Charcot-Marie-Tooth disease, type IA3Oct 19, 2023
Charcot-marie-tooth disease, axonal, type 2DD2Dec 9, 2023
Charlevoix-Saguenay spastic ataxia9Dec 7, 2023
Childhood apraxia of speech1Jan 9, 2023
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1Feb 2, 2022
Chilton-Okur-Chung neurodevelopmental syndrome1Jun 7, 2024
Cholestanol storage disease2Jan 9, 2023
Cholestasis, progressive familial intrahepatic, 43Jun 20, 2024
Cholestasis, progressive familial intrahepatic, 51Jun 7, 2024
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss6Jun 20, 2024
Cholesteryl ester storage disease1May 2, 2024
Chondrodysplasia punctata 2 X-linked dominant2Oct 19, 2023
Chorea-acanthocytosis8Dec 7, 2023
Christianson syndrome1Jan 9, 2023
Chronic atrial and intestinal dysrhythmia1Jun 13, 2024
Chylomicron retention disease1Jun 2, 2021
Chédiak-Higashi syndrome4May 2, 2024
Ciliary dyskinesia, primary, 402Oct 19, 2023
Ciliary dyskinesia, primary, 421Oct 19, 2023
Ciliary dyskinesia, primary, 442May 2, 2024
Citrullinemia type I3Jun 20, 2024
Clark-Baraitser syndrome2Nov 23, 2023
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency4May 18, 2024
Classic dopamine transporter deficiency syndrome1Oct 19, 2023
Classic homocystinuria6Dec 9, 2023
Cobalamin C disease5Jun 20, 2024
Cobblestone lissencephaly without muscular or ocular involvement2Jun 7, 2024
Cockayne syndrome type 11May 2, 2024
Cockayne syndrome type 25Jun 7, 2024
Coenzyme Q10 deficiency, primary, 11Oct 19, 2023
Coffin-Siris syndrome 11May 2, 2024
Coffin-Siris syndrome 122May 2, 2024
Coffin-Siris syndrome 61Jan 9, 2023
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1Jun 7, 2024
Cognitive impairment with or without cerebellar ataxia1Oct 27, 2023
Cohen syndrome3Dec 9, 2023
Colorectal cancer, hereditary nonpolyposis, type 212Jun 20, 2024
Colorectal cancer, hereditary nonpolyposis, type 71Jun 7, 2024
Colorectal cancer, susceptibility to, 103Jun 13, 2024
Colorectal cancer, susceptibility to, 126Jun 13, 2024
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia2May 2, 2024
Combined immunodeficiency due to DOCK8 deficiency10Dec 9, 2023
Combined immunodeficiency due to LRBA deficiency12Jun 7, 2024
Combined immunodeficiency due to MALT1 deficiency1May 2, 2024
Combined immunodeficiency due to ORAI1 deficiency1Jun 13, 2024
Combined malonic and methylmalonic acidemia1Jun 7, 2024
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21May 2, 2024
Combined oxidative phosphorylation defect type 111Oct 19, 2023
Combined oxidative phosphorylation defect type 132Oct 19, 2023
Combined oxidative phosphorylation defect type 201Nov 23, 2023
Combined oxidative phosphorylation defect type 212Jun 7, 2024
Combined oxidative phosphorylation defect type 232Dec 12, 2023
Combined oxidative phosphorylation defect type 242Jan 9, 2023
Combined oxidative phosphorylation defect type 271Jun 13, 2024
Combined oxidative phosphorylation deficiency 351Oct 19, 2023
Combined oxidative phosphorylation deficiency 361Dec 7, 2023
Combined oxidative phosphorylation deficiency 391May 2, 2024
Combined oxidative phosphorylation deficiency 401Jun 7, 2024
Combined oxidative phosphorylation deficiency 441Oct 19, 2023
Combined oxidative phosphorylation deficiency 552Dec 9, 2023
Complement component 5 deficiency1Oct 19, 2023
Complement component 6 deficiency1Dec 12, 2023
Complex cortical dysplasia with other brain malformations 11Oct 19, 2023
Complex cortical dysplasia with other brain malformations 22Jan 9, 2023
Complex cortical dysplasia with other brain malformations 32May 2, 2024
Complex cortical dysplasia with other brain malformations 41May 2, 2024
Complex cortical dysplasia with other brain malformations 52Feb 2, 2022
Conduction disorder of the heart1Oct 19, 2023
Cone-rod dystrophy 181May 2, 2024
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1Oct 27, 2023
Congenital adrenal hypoplasia, X-linked3Oct 19, 2023
Congenital afibrinogenemia2Oct 19, 2023
Congenital amegakaryocytic thrombocytopenia1Oct 19, 2023
Congenital anomalies of kidney and urinary tract 32Feb 2, 2022
Congenital bile acid synthesis defect 13Jun 20, 2024
Congenital bile acid synthesis defect 22Oct 19, 2023
Congenital bile acid synthesis defect 31Oct 19, 2023
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome1Oct 27, 2023
Congenital cataracts-facial dysmorphism-neuropathy syndrome1Jan 9, 2023
Congenital contractural arachnodactyly4May 2, 2024
Congenital contractures of the limbs and face, hypotonia, and developmental delay4Nov 23, 2023
Congenital diarrhea 5 with tufting enteropathy1Oct 19, 2023
Congenital diarrhea 7 with exudative enteropathy1Feb 2, 2022
Congenital disorder of deglycosylation 11Oct 19, 2023
Congenital disorder of glycosylation with defective fucosylation 21May 2, 2024
Congenital dyserythropoietic anemia type 43Jun 7, 2024
Congenital dyserythropoietic anemia, type II2May 2, 2024
Congenital factor V deficiency1Dec 7, 2023
Congenital factor VII deficiency2Dec 7, 2023
Congenital generalized lipodystrophy type 14May 2, 2024
Congenital generalized lipodystrophy type 21Oct 19, 2023
Congenital generalized lipodystrophy type 41Jun 13, 2024
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Feb 2, 2022
Congenital hereditary endothelial dystrophy of cornea2May 2, 2024
Congenital hyperammonemia, type I1Oct 19, 2023
Congenital lipoid adrenal hyperplasia due to STAR deficency3Jun 20, 2024
Congenital microvillous atrophy3Feb 2, 2022
Congenital multicore myopathy with external ophthalmoplegia3May 2, 2024
Congenital muscular dystrophy due to LMNA mutation2Dec 7, 2023
Congenital muscular dystrophy with cataracts and intellectual disability1Nov 23, 2023
Congenital muscular hypertrophy-cerebral syndrome1Feb 2, 2022
Congenital myasthenic syndrome 102Oct 19, 2023
Congenital myasthenic syndrome 122Dec 9, 2023
Congenital myasthenic syndrome 191Dec 12, 2023
Congenital myasthenic syndrome 1A2Oct 19, 2023
Congenital myasthenic syndrome 2A1Nov 23, 2023
Congenital myasthenic syndrome 2C1Oct 19, 2023
Congenital myasthenic syndrome 3B1Oct 19, 2023
Congenital myasthenic syndrome 4A1Oct 19, 2023
Congenital myasthenic syndrome 4B3Dec 9, 2023
Congenital myasthenic syndrome 4C1Nov 3, 2023
Congenital myasthenic syndrome 52Dec 7, 2023
Congenital myasthenic syndrome 85Jun 7, 2024
Congenital myasthenic syndrome 91Oct 19, 2023
Congenital myopathy 232Oct 27, 2023
Congenital myopathy 4A, autosomal dominant3Nov 3, 2023
Congenital myopathy 4B, autosomal recessive1Oct 19, 2023
Congenital myotonia, autosomal dominant form2Oct 19, 2023
Congenital myotonia, autosomal recessive form11May 2, 2024
Congenital stationary night blindness 1B2May 2, 2024
Congenital stationary night blindness 1C1Feb 2, 2022
Corneal dystrophy, Fuchs endothelial, 31Nov 24, 2023
Corneal dystrophy, Fuchs endothelial, 81Dec 7, 2023
Cornelia de Lange syndrome 12Jun 20, 2024
Cornelia de Lange syndrome 31May 2, 2024
Cortical dysplasia, complex, with other brain malformations 111May 2, 2024
Cortical dysplasia-focal epilepsy syndrome2Jun 7, 2024
Costello syndrome2Jun 20, 2024
Cowden syndrome 13Nov 3, 2023
Cowden syndrome 61Oct 19, 2023
Cowden syndrome 71Nov 3, 2023
Cranioectodermal dysplasia 11Oct 19, 2023
Craniolenticulosutural dysplasia1Oct 30, 2023
Crigler-Najjar syndrome type 12Jun 13, 2024
Crigler-Najjar syndrome, type II4Oct 27, 2023
Cryptosporidiosis-chronic cholangitis-liver disease syndrome1Oct 19, 2023
Cutaneous mastocytosis1May 2, 2024
Cutaneous porphyria1Dec 12, 2023
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies2May 2, 2024
Cystic fibrosis34Jun 20, 2024
Cystinuria3Jun 20, 2024
D,L-2-hydroxyglutaric aciduria1Dec 12, 2023
DEGCAGS syndrome1Jan 9, 2023
DOCK2 deficiency1Oct 19, 2023
DOORS syndrome1Feb 2, 2022
DYRK1A-related intellectual disability syndrome4Jun 20, 2024
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Oct 27, 2023
Deficiency of acetyl-CoA acetyltransferase5May 18, 2024
Deficiency of aromatic-L-amino-acid decarboxylase2Jun 7, 2024
Deficiency of butyryl-CoA dehydrogenase2Dec 9, 2023
Deficiency of butyrylcholinesterase3Dec 12, 2023
Deficiency of cytochrome-b5 reductase3May 2, 2024
Deficiency of ferroxidase1Oct 19, 2023
Deficiency of guanidinoacetate methyltransferase1Jun 20, 2024
Deficiency of hydroxymethylglutaryl-CoA lyase1Oct 19, 2023
Deficiency of iodide peroxidase1Oct 27, 2023
Deficiency of steroid 11-beta-monooxygenase2Oct 27, 2023
Deficiency of steroid 17-alpha-monooxygenase2Oct 19, 2023
Deficiency of transaldolase1Oct 19, 2023
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema7Jun 7, 2024
Dejerine-Sottas disease1Jun 13, 2024
Delpire-McNeill syndrome2Jun 13, 2024
Dent disease type 12Oct 27, 2023
Dent disease type 21Jun 7, 2024
Dermatitis, atopic1Jun 7, 2024
Desbuquois dysplasia 21Oct 19, 2023
Desmin-related myofibrillar myopathy4May 2, 2024
Developmental and epileptic encephalopathy 1061Jun 20, 2024
Developmental and epileptic encephalopathy 6B6May 2, 2024
Developmental and epileptic encephalopathy 943Oct 19, 2023
Developmental and epileptic encephalopathy 982May 2, 2024
Developmental and epileptic encephalopathy 992Jun 7, 2024
Developmental and epileptic encephalopathy, 14Feb 18, 2024
Developmental and epileptic encephalopathy, 1120Dec 12, 2023
Developmental and epileptic encephalopathy, 122Feb 2, 2022
Developmental and epileptic encephalopathy, 136Dec 7, 2023
Developmental and epileptic encephalopathy, 149Jun 7, 2024
Developmental and epileptic encephalopathy, 151Feb 2, 2022
Developmental and epileptic encephalopathy, 161Oct 19, 2023
Developmental and epileptic encephalopathy, 188Jun 20, 2024
Developmental and epileptic encephalopathy, 29May 2, 2024
Developmental and epileptic encephalopathy, 232Feb 2, 2022
Developmental and epileptic encephalopathy, 242Jun 7, 2024
Developmental and epileptic encephalopathy, 263Oct 19, 2023
Developmental and epileptic encephalopathy, 279Jun 13, 2024
Developmental and epileptic encephalopathy, 281Oct 19, 2023
Developmental and epileptic encephalopathy, 294Dec 9, 2023
Developmental and epileptic encephalopathy, 32Oct 19, 2023
Developmental and epileptic encephalopathy, 303Nov 24, 2023
Developmental and epileptic encephalopathy, 314Jun 7, 2024
Developmental and epileptic encephalopathy, 322Jun 20, 2024
Developmental and epileptic encephalopathy, 331Oct 19, 2023
Developmental and epileptic encephalopathy, 351May 2, 2024
Developmental and epileptic encephalopathy, 364Oct 19, 2023
Developmental and epileptic encephalopathy, 381Jan 9, 2023
Developmental and epileptic encephalopathy, 391Oct 19, 2023
Developmental and epileptic encephalopathy, 48Jun 7, 2024
Developmental and epileptic encephalopathy, 414May 2, 2024
Developmental and epileptic encephalopathy, 4211Jun 7, 2024
Developmental and epileptic encephalopathy, 441May 2, 2024
Developmental and epileptic encephalopathy, 451Oct 19, 2023
Developmental and epileptic encephalopathy, 467Dec 7, 2023
Developmental and epileptic encephalopathy, 472Oct 19, 2023
Developmental and epileptic encephalopathy, 54Oct 27, 2023
Developmental and epileptic encephalopathy, 501Jan 9, 2023
Developmental and epileptic encephalopathy, 521Dec 7, 2023
Developmental and epileptic encephalopathy, 542May 2, 2024
Developmental and epileptic encephalopathy, 573Jun 20, 2024
Developmental and epileptic encephalopathy, 581Jan 9, 2023
Developmental and epileptic encephalopathy, 592Nov 24, 2023
Developmental and epileptic encephalopathy, 623Oct 19, 2023
Developmental and epileptic encephalopathy, 632May 2, 2024
Developmental and epileptic encephalopathy, 648May 2, 2024
Developmental and epileptic encephalopathy, 651Jun 7, 2024
Developmental and epileptic encephalopathy, 664Jun 7, 2024
Developmental and epileptic encephalopathy, 672Oct 19, 2023
Developmental and epileptic encephalopathy, 696Jun 20, 2024
Developmental and epileptic encephalopathy, 715Jun 20, 2024
Developmental and epileptic encephalopathy, 721Oct 19, 2023
Developmental and epileptic encephalopathy, 731Oct 19, 2023
Developmental and epileptic encephalopathy, 751Oct 19, 2023
Developmental and epileptic encephalopathy, 762Oct 19, 2023
Developmental and epileptic encephalopathy, 771May 2, 2024
Developmental and epileptic encephalopathy, 781Jun 7, 2024
Developmental and epileptic encephalopathy, 791Oct 19, 2023
Developmental and epileptic encephalopathy, 811Jan 27, 2023
Developmental and epileptic encephalopathy, 831Jan 9, 2023
Developmental and epileptic encephalopathy, 85, with or without midline brain defects3May 2, 2024
Developmental and epileptic encephalopathy, 872May 2, 2024
Developmental and epileptic encephalopathy, 97Jun 7, 2024
Developmental and epileptic encephalopathy, 901Nov 24, 2023
Developmental delay with autism spectrum disorder and gait instability1Nov 24, 2023
Developmental delay with or without dysmorphic facies and autism7Jun 7, 2024
Developmental delay with short stature, dysmorphic facial features, and sparse hair 21Dec 7, 2023
Developmental delay with variable intellectual impairment and behavioral abnormalities6Jun 7, 2024
Developmental delay with variable neurologic and brain abnormalities1Dec 7, 2023
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities2Dec 7, 2023
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy2Jun 20, 2024
Developmental delay, impaired speech, and behavioral abnormalities4Jun 7, 2024
Diabetes insipidus, nephrogenic, autosomal1Jun 20, 2024
Diabetes mellitus, permanent neonatal 22Oct 19, 2023
Diabetes mellitus, transient neonatal, 22Dec 7, 2023
Diamond-Blackfan anemia 13May 2, 2024
Diamond-Blackfan anemia 32Oct 19, 2023
Diaphyseal dysplasia1Oct 19, 2023
Diarrhea 10, protein-losing enteropathy type1May 2, 2024
Dias-Logan syndrome1Nov 23, 2023
Diastrophic dysplasia1Oct 19, 2023
Diets-Jongmans syndrome1Nov 24, 2023
Dihydropteridine reductase deficiency1Oct 19, 2023
Dilated cardiomyopathy 1CC1Oct 19, 2023
Dilated cardiomyopathy 1D2Jun 7, 2024
Dilated cardiomyopathy 1E2Jun 7, 2024
Dilated cardiomyopathy 1G1Nov 23, 2023
Dilated cardiomyopathy 1I1Dec 7, 2023
Dilated cardiomyopathy 1JJ5Jun 20, 2024
Dilated cardiomyopathy 1NN1Feb 2, 2022
Dilated cardiomyopathy 1O2Jun 7, 2024
Dilated cardiomyopathy 1S4Jun 20, 2024
Dilated cardiomyopathy 1V1Feb 2, 2022
Dilated cardiomyopathy 1Z1Oct 19, 2023
Dilated cardiomyopathy 2A1Oct 27, 2023
Distal arthrogryposis type 5D2May 2, 2024
Distal myopathy with posterior leg and anterior hand involvement1Oct 19, 2023
Donnai-Barrow syndrome5Jun 7, 2024
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Oct 19, 2023
Drash syndrome2Oct 19, 2023
Duane-radial ray syndrome1Jun 7, 2024
Dubin-Johnson syndrome7Jun 20, 2024
Duchenne muscular dystrophy20May 2, 2024
Dyggve-Melchior-Clausen syndrome2Jun 7, 2024
Dyskeratosis congenita, autosomal dominant 21Oct 27, 2023
Dyskeratosis congenita, autosomal dominant 31Jun 20, 2024
Dyskeratosis congenita, autosomal dominant 62Jun 20, 2024
Dyskeratosis congenita, autosomal recessive 56Jun 7, 2024
Dyskeratosis congenita, autosomal recessive 61May 2, 2024
Dyskinesia with orofacial involvement, autosomal dominant3Dec 7, 2023
Dystonia 121Oct 19, 2023
Dystonia 162Oct 27, 2023
Dystonia 241Oct 19, 2023
Dystonia 28, childhood-onset2Oct 27, 2023
Dystonia 331Nov 24, 2023
Dystonia 34, myoclonic1May 2, 2024
Dystonia 92Oct 19, 2023
EAST syndrome3Nov 24, 2023
Early-onset Parkinson disease 201Oct 19, 2023
Early-onset generalized limb-onset dystonia1Nov 3, 2023
Early-onset myopathy with fatal cardiomyopathy3Dec 12, 2023
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome3Dec 7, 2023
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome5Nov 3, 2023
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome1Dec 12, 2023
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1May 2, 2024
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive1Oct 19, 2023
Ectopia lentis et pupillae1Oct 19, 2023
Ehlers-Danlos syndrome due to tenascin-X deficiency1Oct 19, 2023
Ehlers-Danlos syndrome, arthrochalasia type1Nov 23, 2023
Ehlers-Danlos syndrome, cardiac valvular type1Oct 27, 2023
Ehlers-Danlos syndrome, classic type, 14Jun 13, 2024
Ehlers-Danlos syndrome, classic type, 21Feb 2, 2022
Ehlers-Danlos syndrome, kyphoscoliotic type 14Jun 7, 2024
Eichsfeld type congenital muscular dystrophy2Nov 30, 2023
Elliptocytosis 13Nov 23, 2023
Elliptocytosis 24Dec 9, 2023
Ellis-van Creveld syndrome2Nov 23, 2023
Emery-Dreifuss muscular dystrophy 1, X-linked2May 2, 2024
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Oct 19, 2023
Emery-Dreifuss muscular dystrophy 4, autosomal dominant4Nov 24, 2023
Emery-Dreifuss muscular dystrophy 5, autosomal dominant7Jun 20, 2024
Encephalopathy due to GLUT1 deficiency3Nov 3, 2023
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 12Oct 19, 2023
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities1Feb 2, 2022
Endometrial carcinoma5Dec 12, 2023
Enhanced S-cone syndrome1Oct 19, 2023
Enterokinase deficiency2Dec 12, 2023
Epicanthus1Feb 2, 2022
Epidermolysis bullosa simplex 1A, generalized severe2Oct 27, 2023
Epidermolysis bullosa simplex 1C, localized1Feb 2, 2022
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive1Oct 19, 2023
Epidermolysis bullosa simplex 5B, with muscular dystrophy1Feb 2, 2022
Epidermolysis bullosa simplex 5C, with pyloric atresia1Oct 19, 2023
Epidermolysis bullosa simplex 7, with nephropathy and deafness1Feb 2, 2022
Epidermolysis bullosa simplex due to plakophilin deficiency1Feb 2, 2022
Epidermolysis bullosa simplex with nail dystrophy4Nov 24, 2023
Epidermolysis bullosa simplex, Koebner type1Feb 2, 2022
Epidermolysis bullosa, junctional 2A, intermediate2May 2, 2024
Epidermolysis bullosa, junctional 3B, severe1Jun 7, 2024
Epidermolysis bullosa, junctional 4, intermediate5Jun 7, 2024
Epidermolytic ichthyosis1Feb 2, 2022
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1Oct 19, 2023
Epilepsy, early-onset, vitamin B6-dependent2May 2, 2024
Epilepsy, familial focal, with variable foci 115May 2, 2024
Epilepsy, familial focal, with variable foci 24Jun 7, 2024
Epilepsy, familial focal, with variable foci 32May 2, 2024
Epilepsy, familial focal, with variable foci 43May 2, 2024
Epilepsy, familial temporal lobe, 11May 2, 2024
Epilepsy, idiopathic generalized, susceptibility to, 101Jan 9, 2023
Epilepsy, idiopathic generalized, susceptibility to, 111Jan 9, 2023
Epilepsy, idiopathic generalized, susceptibility to, 181May 2, 2024
Epileptic encephalopathy, infantile or early childhood, 11Jun 20, 2024
Epileptic encephalopathy, infantile or early childhood, 32May 2, 2024
Episodic ataxia type 21Mar 18, 2024
Episodic kinesigenic dyskinesia 12May 2, 2024
Erythrocytosis, familial, 31Oct 19, 2023
Erythrocytosis, familial, 41Oct 19, 2023
Erythrocytosis, familial, 62May 2, 2024
Ethylmalonic encephalopathy3Dec 9, 2023
Exostoses, multiple, type 14Jun 20, 2024
Exostoses, multiple, type 21Oct 19, 2023
FG syndrome 21Nov 3, 2023
FG syndrome 43Jun 13, 2024
Fabry disease1Jun 2, 2021
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1May 2, 2024
Factor H deficiency1Dec 9, 2023
Factor I deficiency1Jun 7, 2024
Factor XIII, A subunit, deficiency of1Oct 19, 2023
Familial Mediterranean fever2Jun 7, 2024
Familial Mediterranean fever, autosomal dominant1May 2, 2024
Familial X-linked hypophosphatemic vitamin D refractory rickets6May 2, 2024
Familial acute necrotizing encephalopathy1Jun 7, 2024
Familial adenomatous polyposis 17Mar 15, 2024
Familial adenomatous polyposis 24Jun 7, 2024
Familial adenomatous polyposis 41Oct 19, 2023
Familial amyloid nephropathy with urticaria AND deafness1Oct 19, 2023
Familial amyloid neuropathy1Jun 13, 2024
Familial cancer of breast42Jun 20, 2024
Familial cold autoinflammatory syndrome 42Jun 7, 2024
Familial hemophagocytic lymphohistiocytosis 23Oct 30, 2023
Familial hemophagocytic lymphohistiocytosis 35Nov 24, 2023
Familial hemophagocytic lymphohistiocytosis 52Jun 13, 2024
Familial hyperaldosteronism type II1Oct 19, 2023
Familial hypocalciuric hypercalcemia 11Dec 7, 2023
Familial hypokalemia-hypomagnesemia6Nov 23, 2023
Familial idiopathic hypercalciuria3Oct 30, 2023
Familial infantile myasthenia2Jun 7, 2024
Familial isolated congenital asplenia1Dec 7, 2023
Familial juvenile hyperuricemic nephropathy type 14Dec 9, 2023
Familial juvenile hyperuricemic nephropathy type 21Feb 2, 2022
Familial partial lipodystrophy, Dunnigan type3Oct 19, 2023
Familial porphyria cutanea tarda1May 2, 2024
Familial pulmonary capillary hemangiomatosis1Oct 19, 2023
Familial renal glucosuria1Oct 19, 2023
Familial temporal lobe epilepsy 53May 2, 2024
Familial temporal lobe epilepsy 72Dec 7, 2023
Fanconi anemia complementation group A24Jun 7, 2024
Fanconi anemia complementation group B1Jun 13, 2024
Fanconi anemia complementation group C3Oct 27, 2023
Fanconi anemia complementation group D12Oct 19, 2023
Fanconi anemia complementation group G2Nov 3, 2023
Fanconi anemia complementation group I4Dec 9, 2023
Fanconi anemia complementation group J2Oct 19, 2023
Fanconi anemia complementation group L2Oct 30, 2023
Fanconi anemia complementation group N2Oct 19, 2023
Fanconi anemia complementation group P2Dec 12, 2023
Fanconi renotubular syndrome 12Oct 19, 2023
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1Oct 19, 2023
Fanconi-Bickel syndrome1Oct 19, 2023
Farber lipogranulomatosis3Dec 12, 2023
Febrile seizures, familial, 21Dec 7, 2023
Febrile seizures, familial, 44Dec 7, 2023
Fetal akinesia deformation sequence 31Jun 7, 2024
Filippi syndrome1Oct 19, 2023
Finnish congenital nephrotic syndrome11Jun 20, 2024
Finnish type amyloidosis1Oct 19, 2023
Focal dermal hypoplasia1Feb 2, 2022
Focal segmental glomerulosclerosis 24May 2, 2024
Focal segmental glomerulosclerosis 51Jun 7, 2024
Focal segmental glomerulosclerosis 82Oct 19, 2023
Fontaine progeroid syndrome1Oct 19, 2023
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome3Jun 7, 2024
Fowler syndrome1Jun 13, 2024
Fragile X syndrome1Jun 7, 2024
Fraser syndrome 12Dec 9, 2023
Fraser syndrome 24Dec 12, 2023
Frontotemporal dementia1Oct 19, 2023
Frontotemporal dementia and/or amyotrophic lateral sclerosis 21Feb 2, 2022
Frontotemporal dementia and/or amyotrophic lateral sclerosis 42Oct 27, 2023
Frontotemporal dementia and/or amyotrophic lateral sclerosis 52Oct 27, 2023
Fructose-biphosphatase deficiency1Jun 20, 2024
Fucosidosis1Oct 19, 2023
GAPO syndrome1Dec 9, 2023
GM1 gangliosidosis type 22Oct 19, 2023
GM1 gangliosidosis type 31May 2, 2024
GNE myopathy10May 2, 2024
GNPTG-mucolipidosis4May 2, 2024
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions1Jun 7, 2024
GTP cyclohydrolase I deficiency with hyperphenylalaninemia2Jun 13, 2024
Galactosylceramide beta-galactosidase deficiency8Dec 9, 2023
Galloway-Mowat syndrome 13Jun 7, 2024
Galloway-Mowat syndrome 2, X-linked1Oct 27, 2023
Galloway-Mowat syndrome 31Oct 19, 2023
Gamma-glutamylcysteine synthetase deficiency1Nov 23, 2023
Gastrointestinal defects and immunodeficiency syndrome 11Oct 19, 2023
Gastrointestinal defects and immunodeficiency syndrome 21Jun 7, 2024
Gaucher disease type I2Jun 20, 2024
Gaze palsy, familial horizontal, with progressive scoliosis 12Jun 7, 2024
Generalized dominant dystrophic epidermolysis bullosa3Oct 27, 2023
Generalized epilepsy with febrile seizures plus, type 11Oct 19, 2023
Generalized epilepsy with febrile seizures plus, type 216Jun 13, 2024
Generalized epilepsy-paroxysmal dyskinesia syndrome2Dec 7, 2023
Ghosal hematodiaphyseal dysplasia1Oct 19, 2023
Giant axonal neuropathy 11Oct 27, 2023
Gilbert syndrome3Jun 7, 2024
Gillespie syndrome1Oct 19, 2023
Glanzmann thrombasthenia 15Dec 7, 2023
Glanzmann thrombasthenia 23Jun 20, 2024
Glaucoma 1, open angle, A1Dec 7, 2023
Glaucoma 1, open angle, G1Oct 27, 2023
Glaucoma 3A3May 18, 2024
Global developmental delay1Jan 27, 2023
Global developmental delay with or without impaired intellectual development3Jun 7, 2024
Global developmental delay with speech and behavioral abnormalities4Jun 13, 2024
Global developmental delay, progressive ataxia, and elevated glutamine1Nov 24, 2023
Glomerulopathy with fibronectin deposits 24Jun 7, 2024
Glomerulotubular Nephropathy1Feb 2, 2022
Glucocorticoid deficiency with achalasia3Dec 7, 2023
Glucose-6-phosphate transport defect3May 2, 2024
Glutamate pyruvate transaminase 2 deficiency2Oct 19, 2023
Glutaric aciduria, type 111May 2, 2024
Glutaryl-CoA oxidase deficiency1May 2, 2024
Glycine encephalopathy 11Jun 7, 2024
Glycogen storage disease IXa13Jun 13, 2024
Glycogen storage disease IXb5May 2, 2024
Glycogen storage disease IXc5Jun 7, 2024
Glycogen storage disease IXd2Jun 7, 2024
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1Nov 24, 2023
Glycogen storage disease type III14May 18, 2024
Glycogen storage disease, type II5Jun 20, 2024
Glycogen storage disease, type IV4May 2, 2024
Glycogen storage disease, type V1Feb 2, 2022
Glycogen storage disease, type VI11Jun 20, 2024
Glycogen storage disorder due to hepatic glycogen synthase deficiency4Jun 13, 2024
Glycosylphosphatidylinositol biosynthesis defect 151Oct 19, 2023
Glycosylphosphatidylinositol biosynthesis defect 171Feb 2, 2022
Goldberg-Shprintzen syndrome2Jun 20, 2024
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy1Nov 24, 2023
Gordon syndrome2Oct 19, 2023
Granulomatous disease, chronic, X-linked1Oct 27, 2023
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1Nov 23, 2023
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 12May 2, 2024
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31Oct 19, 2023
Grebe syndrome1Jun 20, 2024
Griscelli syndrome type 23Dec 7, 2023
Griscelli syndrome type 31Jun 20, 2024
Growth delay due to insulin-like growth factor I resistance2Jun 13, 2024
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant2May 2, 2024
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy1Oct 19, 2023
H syndrome2Jun 7, 2024
HSD10 mitochondrial disease3May 2, 2024
Hand-foot-genital syndrome1May 2, 2024
Hb SS disease1Oct 19, 2023
Hearing loss, X-linked 41May 2, 2024
Hearing loss, autosomal dominant 34, with or without inflammation1May 2, 2024
Hearing loss, autosomal dominant 801Dec 7, 2023
Hearing loss, autosomal dominant 832Dec 9, 2023
Hearing loss, autosomal recessive 1101Dec 12, 2023
Heart and brain malformation syndrome1Oct 19, 2023
Heart defect - tongue hamartoma - polysyndactyly syndrome1Oct 19, 2023
Hematuria, benign familial, 11Jun 7, 2024
Hemochromatosis type 12Jun 7, 2024
Hemolytic anemia due to glucophosphate isomerase deficiency4Jun 20, 2024
Hemolytic uremic syndrome, atypical, susceptibility to, 11Jun 7, 2024
Hengel-Maroofian-Schols syndrome1Nov 24, 2023
Hennekam lymphangiectasia-lymphedema syndrome 12Dec 12, 2023
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 12Oct 19, 2023
Hereditary attention deficit-hyperactivity disorder2Oct 19, 2023
Hereditary diffuse leukoencephalopathy with spheroids1Feb 2, 2022
Hereditary factor IX deficiency disease2Jun 7, 2024
Hereditary factor VIII deficiency disease10Jun 13, 2024
Hereditary factor X deficiency disease1Jun 7, 2024
Hereditary factor XI deficiency disease6Jun 20, 2024
Hereditary insensitivity to pain with anhidrosis4Jun 7, 2024
Hereditary lymphedema type I1Oct 19, 2023
Hereditary pancreatitis12Jun 20, 2024
Hereditary persistence of fetal hemoglobin1Nov 24, 2023
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement1May 18, 2024
Hereditary sensory and autonomic neuropathy with spastic paraplegia1Oct 19, 2023
Hereditary sensory neuropathy-deafness-dementia syndrome1Nov 24, 2023
Hereditary spastic paraplegia 102Oct 19, 2023
Hereditary spastic paraplegia 1122Jun 20, 2024
Hereditary spastic paraplegia 152Dec 7, 2023
Hereditary spastic paraplegia 303Nov 3, 2023
Hereditary spastic paraplegia 311Dec 7, 2023
Hereditary spastic paraplegia 354May 2, 2024
Hereditary spastic paraplegia 3A1May 2, 2024
Hereditary spastic paraplegia 42Jun 7, 2024
Hereditary spastic paraplegia 433Dec 9, 2023
Hereditary spastic paraplegia 462Jun 7, 2024
Hereditary spastic paraplegia 476Dec 7, 2023
Hereditary spastic paraplegia 483May 2, 2024
Hereditary spastic paraplegia 491Oct 19, 2023
Hereditary spastic paraplegia 563Jun 7, 2024
Hereditary spastic paraplegia 571Feb 2, 2022
Hereditary spastic paraplegia 61Feb 2, 2022
Hereditary spastic paraplegia 74Dec 12, 2023
Hereditary spastic paraplegia 731Dec 7, 2023
Hereditary spastic paraplegia 741Oct 19, 2023
Hereditary spastic paraplegia 751Oct 19, 2023
Hereditary spastic paraplegia 83Oct 27, 2023
Hereditary spherocytosis type 114Jun 20, 2024
Hereditary spherocytosis type 216Jun 7, 2024
Hereditary spherocytosis type 32Nov 23, 2023
Hereditary spherocytosis type 41Oct 27, 2023
Hereditary xanthinuria type 13May 2, 2024
Hermansky-Pudlak syndrome 12Nov 24, 2023
Hermansky-Pudlak syndrome 101Jun 20, 2024
Hermansky-Pudlak syndrome 21Oct 19, 2023
Hermansky-Pudlak syndrome 31Dec 9, 2023
Hermansky-Pudlak syndrome 41Oct 19, 2023
Hermansky-Pudlak syndrome 51Feb 2, 2022
Hermansky-Pudlak syndrome 91Oct 19, 2023
Heterotaxy, visceral, 8, autosomal2Nov 3, 2023
Heterotaxy, visceral, 9, autosomal, with male infertility1Jun 7, 2024
Heterotopia, periventricular, X-linked dominant1Oct 19, 2023
Heyn-Sproul-Jackson syndrome3Jun 20, 2024
Histiocytic medullary reticulosis1Jun 7, 2024
Hogue-Janssens syndrome 11Jan 9, 2023
Holocarboxylase synthetase deficiency1Dec 9, 2023
Holoprosencephaly 111Oct 19, 2023
Holoprosencephaly 13, X-linked1Jun 13, 2024
Holoprosencephaly 92Oct 27, 2023
Homocystinuria due to methylene tetrahydrofolate reductase deficiency4Nov 3, 2023
Hurler syndrome3May 2, 2024
Hyaline fibromatosis syndrome2Oct 19, 2023
Hydatidiform mole, recurrent, 11Oct 19, 2023
Hydrocephalus, nonsyndromic, autosomal recessive 12Jun 20, 2024
Hydrocephalus, nonsyndromic, autosomal recessive 21Nov 24, 2023
Hyper-IgE recurrent infection syndrome 1, autosomal dominant4May 2, 2024
Hyper-IgE recurrent infection syndrome 5, autosomal recessive2Jun 20, 2024
Hyperalphalipoproteinemia 11Oct 27, 2023
Hyperammonemia, type III1Feb 2, 2022
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency2Jun 13, 2024
Hypercalcemia, infantile, 11Dec 12, 2023
Hypercalcemia, infantile, 22Oct 19, 2023
Hypercholesterolemia, autosomal dominant, type B2May 2, 2024
Hypercholesterolemia, familial, 16Jun 7, 2024
Hyperekplexia 31Oct 19, 2023
Hyperglycinuria3Nov 24, 2023
Hyperinsulinemic hypoglycemia, familial, 15May 2, 2024
Hyperinsulinism due to INSR deficiency1Dec 9, 2023
Hyperinsulinism-hyperammonemia syndrome3Oct 27, 2023
Hyperlipoproteinemia, type 1D2Jun 7, 2024
Hyperlipoproteinemia, type I4Jun 7, 2024
Hyperparathyroidism, transient neonatal1Oct 19, 2023
Hyperphosphatasia with intellectual disability syndrome 11Jun 20, 2024
Hyperphosphatasia with intellectual disability syndrome 22Jun 7, 2024
Hyperphosphatasia with intellectual disability syndrome 31Oct 19, 2023
Hypertrophic cardiomyopathy 12Jun 7, 2024
Hypertrophic cardiomyopathy 145Jun 13, 2024
Hypertrophic cardiomyopathy 171Oct 27, 2023
Hypertrophic cardiomyopathy 263Jun 20, 2024
Hypertrophic cardiomyopathy 46May 2, 2024
Hypertrophic cardiomyopathy 61Jun 20, 2024
Hypertrophic cardiomyopathy 82May 2, 2024
Hypertrophic cardiomyopathy 92Jun 7, 2024
Hypertrophic osteoarthropathy, primary, autosomal recessive, 23May 2, 2024
Hypochondroplasia1Jun 20, 2024
Hypogonadotropic hypogonadism 14 with or without anosmia1Oct 19, 2023
Hypogonadotropic hypogonadism 2 with or without anosmia1Feb 2, 2022
Hypogonadotropic hypogonadism 22 with or without anosmia1Feb 2, 2022
Hypogonadotropic hypogonadism 3 with or without anosmia1Jun 7, 2024
Hypogonadotropic hypogonadism 7 with or without anosmia1Dec 7, 2023
Hypogonadotropic hypogonadism 8 with or without anosmia1Feb 2, 2022
Hypohidrotic X-linked ectodermal dysplasia1Oct 19, 2023
Hypokalemic periodic paralysis, type 22Jun 13, 2024
Hypomagnesemia, seizures, and intellectual disability 11Oct 19, 2023
Hypomyelinating leukodystrophy 101Feb 2, 2022
Hypomyelinating leukodystrophy 116Dec 9, 2023
Hypomyelinating leukodystrophy 131Oct 19, 2023
Hypomyelinating leukodystrophy 22Oct 19, 2023
Hypomyelinating leukodystrophy 31Oct 19, 2023
Hypomyelinating leukodystrophy 61Dec 7, 2023
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism2Oct 27, 2023
Hypomyelinating leukodystrophy 91May 2, 2024
Hypoparathyroidism, deafness, renal disease syndrome2Dec 12, 2023
Hypoparathyroidism, familial isolated 11Oct 27, 2023
Hypophosphatemic nephrolithiasis/osteoporosis 11Jun 7, 2024
Hypospadias 2, X-linked1May 2, 2024
Hypotonia with lactic acidemia and hyperammonemia2Oct 19, 2023
Hypotonia, ataxia, and delayed development syndrome1Oct 19, 2023
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities1Oct 19, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 13Oct 19, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22Jun 7, 2024
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Feb 2, 2022
Hypotrichosis 62Jun 7, 2024
Hypotrichosis 82Jun 20, 2024
Ichthyosis prematurity syndrome1Oct 19, 2023
Ichthyosis vulgaris1Dec 9, 2023
Ichthyosis, annular epidermolytic 11May 2, 2024
Ichthyosis, annular epidermolytic, 21Dec 7, 2023
Ichthyosis, congenital, autosomal recessive 131Oct 19, 2023
Idiopathic basal ganglia calcification 11Oct 19, 2023
Idiopathic generalized epilepsy1Oct 19, 2023
Imerslund-Grasbeck syndrome type 11Oct 19, 2023
Imerslund-Grasbeck syndrome type 21Oct 19, 2023
Immunodeficiency 11b with atopic dermatitis1Jun 20, 2024
Immunodeficiency 143Jun 7, 2024
Immunodeficiency 15a1Oct 19, 2023
Immunodeficiency 181Oct 19, 2023
Immunodeficiency 232Dec 12, 2023
Immunodeficiency 251Oct 19, 2023
Immunodeficiency 27A1Oct 19, 2023
Immunodeficiency 362May 2, 2024
Immunodeficiency 472Oct 19, 2023
Immunodeficiency 491Dec 7, 2023
Immunodeficiency 511Dec 9, 2023
Immunodeficiency 571May 2, 2024
Immunodeficiency 601Dec 7, 2023
Immunodeficiency 63 with lymphoproliferation and autoimmunity1Oct 19, 2023
Immunodeficiency 661Dec 9, 2023
Immunodeficiency 672Jun 7, 2024
Immunodeficiency 72 with autoinflammation1Oct 19, 2023
Immunodeficiency 83, susceptibility to viral infections3Jun 7, 2024
Immunodeficiency 89 and autoimmunity1Nov 24, 2023
Immunodeficiency 94 with autoinflammation and dysmorphic facies1May 2, 2024
Immunodeficiency 961May 2, 2024
Immunodeficiency due to MASP-2 deficiency1Oct 19, 2023
Immunodeficiency, common variable, 11Oct 19, 2023
Immunodeficiency, common variable, 103Dec 9, 2023
Immunodeficiency, common variable, 123Jun 7, 2024
Immunodeficiency, common variable, 141Oct 19, 2023
Immunodeficiency, common variable, 21Dec 7, 2023
Immunodeficiency, common variable, 71Feb 2, 2022
Immunodeficiency, developmental delay, and hypohomocysteinemia3May 2, 2024
Immunodeficiency-centromeric instability-facial anomalies syndrome 21Dec 12, 2023
Immunoglobulin-mediated membranoproliferative glomerulonephritis5Oct 27, 2023
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 22May 2, 2024
Infantile GM1 gangliosidosis8May 2, 2024
Infantile cerebellar-retinal degeneration1Jan 9, 2023
Infantile convulsions and choreoathetosis2Nov 3, 2023
Infantile hypophosphatasia2Nov 3, 2023
Infantile neuroaxonal dystrophy9Nov 23, 2023
Infantile osteopetrosis with neuroaxonal dysplasia1Oct 19, 2023
Infantile-onset X-linked spinal muscular atrophy1Oct 19, 2023
Infantile-onset ascending hereditary spastic paralysis3Nov 3, 2023
Infantile-onset periodic fever-panniculitis-dermatosis syndrome1Oct 19, 2023
Inflammatory bowel disease, immunodeficiency, and encephalopathy1May 2, 2024
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1Oct 27, 2023
Intellectual developmental disorder 591May 2, 2024
Intellectual developmental disorder 612May 2, 2024
Intellectual developmental disorder and retinitis pigmentosa; IDDRP1Dec 9, 2023
Intellectual developmental disorder with autism and macrocephaly1Jun 13, 2024
Intellectual developmental disorder with autistic features and language delay, with or without seizures3Jun 13, 2024
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1Jan 9, 2023
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Dec 12, 2023
Intellectual developmental disorder with dysmorphic facies and ptosis1Jun 7, 2024
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies2Oct 19, 2023
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Oct 19, 2023
Intellectual developmental disorder with macrocephaly, seizures, and speech delay1Oct 19, 2023
Intellectual developmental disorder with neuropsychiatric features2Jun 7, 2024
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia2Oct 19, 2023
Intellectual developmental disorder with poor growth and with or without seizures or ataxia2May 2, 2024
Intellectual developmental disorder with seizures and language delay4Jun 7, 2024
Intellectual developmental disorder with severe speech and ambulation defects1Oct 19, 2023
Intellectual developmental disorder with short stature and variable skeletal anomalies1Dec 7, 2023
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies2May 2, 2024
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1May 2, 2024
Intellectual developmental disorder, X-linked 1081Jan 9, 2023
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type1Jun 7, 2024
Intellectual developmental disorder, X-linked, syndromic, Pilorge type1Jun 7, 2024
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies1Dec 7, 2023
Intellectual developmental disorder, autosomal dominant 646Jun 7, 2024
Intellectual developmental disorder, autosomal recessive 681Feb 2, 2022
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly1Nov 24, 2023
Intellectual disability, Wolff type1Feb 2, 2022
Intellectual disability, X-linked 12Jun 7, 2024
Intellectual disability, X-linked 1001Jun 7, 2024
Intellectual disability, X-linked 1022Oct 19, 2023
Intellectual disability, X-linked 1041Oct 19, 2023
Intellectual disability, X-linked 492Oct 19, 2023
Intellectual disability, X-linked 611Oct 19, 2023
Intellectual disability, X-linked 931Oct 19, 2023
Intellectual disability, X-linked 961Jun 20, 2024
Intellectual disability, X-linked 99, syndromic, female-restricted2Oct 27, 2023
Intellectual disability, X-linked syndromic, Turner type2Oct 27, 2023
Intellectual disability, X-linked, syndromic 333May 2, 2024
Intellectual disability, X-linked, syndromic, Bain type1Oct 19, 2023
Intellectual disability, X-linked, with or without seizures, arx-related1Feb 2, 2022
Intellectual disability, autosomal dominant 14Oct 19, 2023
Intellectual disability, autosomal dominant 1310May 2, 2024
Intellectual disability, autosomal dominant 161Nov 23, 2023
Intellectual disability, autosomal dominant 202Oct 19, 2023
Intellectual disability, autosomal dominant 221Jun 20, 2024
Intellectual disability, autosomal dominant 242May 2, 2024
Intellectual disability, autosomal dominant 293Jun 7, 2024
Intellectual disability, autosomal dominant 31Jun 7, 2024
Intellectual disability, autosomal dominant 301May 2, 2024
Intellectual disability, autosomal dominant 341May 2, 2024
Intellectual disability, autosomal dominant 393Jun 7, 2024
Intellectual disability, autosomal dominant 402Jun 7, 2024
Intellectual disability, autosomal dominant 432Jun 7, 2024
Intellectual disability, autosomal dominant 455Jun 7, 2024
Intellectual disability, autosomal dominant 462Nov 23, 2023
Intellectual disability, autosomal dominant 55Jun 7, 2024
Intellectual disability, autosomal dominant 526Jun 7, 2024
Intellectual disability, autosomal dominant 531Jan 9, 2023
Intellectual disability, autosomal dominant 542Dec 12, 2023
Intellectual disability, autosomal dominant 55, with seizures2Jan 9, 2023
Intellectual disability, autosomal dominant 581Oct 19, 2023
Intellectual disability, autosomal dominant 61Oct 19, 2023
Intellectual disability, autosomal dominant 83Dec 7, 2023
Intellectual disability, autosomal dominant 96Jun 20, 2024
Intellectual disability, autosomal recessive 133Jun 7, 2024
Intellectual disability, autosomal recessive 31Oct 19, 2023
Intellectual disability, autosomal recessive 423Dec 7, 2023
Intellectual disability, autosomal recessive 533Jun 20, 2024
Intellectual disability, autosomal recessive 571Dec 7, 2023
Intellectual disability-epilepsy-extrapyramidal syndrome2Oct 27, 2023
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency4May 2, 2024
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome8May 2, 2024
Intellectual disability-hypotonic facies syndrome, X-linked, 11Feb 2, 2022
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome3Oct 19, 2023
Intellectual disability-severe speech delay-mild dysmorphism syndrome4Oct 19, 2023
Interstitial lung disease due to ABCA3 deficiency1Oct 19, 2023
Intestinal hypomagnesemia 11Oct 19, 2023
Islet cell adenomatosis1Jun 7, 2024
Isolated focal cortical dysplasia type II1Dec 12, 2023
Isolated growth hormone deficiency, type 41Nov 3, 2023
Isolated neonatal sclerosing cholangitis1Feb 2, 2022
Isovaleryl-CoA dehydrogenase deficiency3Jun 20, 2024
Joubert syndrome 12Oct 27, 2023
Joubert syndrome 101Dec 7, 2023
Joubert syndrome 151Jan 9, 2023
Joubert syndrome 161May 2, 2024
Joubert syndrome 174May 2, 2024
Joubert syndrome 181Jun 7, 2024
Joubert syndrome 212Jun 13, 2024
Joubert syndrome 233Dec 7, 2023
Joubert syndrome 261Jun 7, 2024
Joubert syndrome 33Nov 24, 2023
Joubert syndrome 331Oct 27, 2023
Joubert syndrome 371Nov 24, 2023
Joubert syndrome 56May 2, 2024
Joubert syndrome 71Oct 19, 2023
Joubert syndrome 91Dec 9, 2023
Junctional epidermolysis bullosa gravis of Herlitz9Jun 7, 2024
Junctional epidermolysis bullosa with pyloric atresia3Nov 3, 2023
Junctional epidermolysis bullosa, non-Herlitz type7Oct 27, 2023
Juvenile polyposis syndrome1Jun 13, 2024
KBG syndrome5Nov 23, 2023
KINSSHIP syndrome1Jun 7, 2024
Kabuki syndrome 19Jun 7, 2024
Kabuki syndrome 21Oct 19, 2023
Keipert syndrome1Oct 19, 2023
Kindler syndrome1Feb 2, 2022
Kleefstra syndrome 13Jun 7, 2024
Kleefstra syndrome 22May 2, 2024
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome1Dec 12, 2023
Knobloch syndrome 12May 2, 2024
Koolen-de Vries syndrome3Jun 7, 2024
Kufor-Rakeb syndrome1Oct 19, 2023
L-2-hydroxyglutaric aciduria3Oct 27, 2023
LAMB2-related infantile-onset nephrotic syndrome3Oct 27, 2023
LEOPARD syndrome 11Dec 12, 2023
Lafora disease3Oct 19, 2023
Landau-Kleffner syndrome5Jun 7, 2024
Laron-type isolated somatotropin defect2Oct 19, 2023
Larsen syndrome2May 2, 2024
Laryngo-onycho-cutaneous syndrome1May 2, 2024
Lattice corneal dystrophy Type I1Nov 24, 2023
Leber congenital amaurosis 13Oct 27, 2023
Leber congenital amaurosis 131Jun 20, 2024
Leber congenital amaurosis 141Dec 12, 2023
Leber congenital amaurosis 22Nov 3, 2023
Leber congenital amaurosis 91Oct 19, 2023
Left ventricular noncompaction 12Oct 27, 2023
Left ventricular noncompaction 102Nov 3, 2023
Legius syndrome1Jun 7, 2024
Lethal Kniest-like syndrome3Jun 13, 2024
Lethal congenital contracture syndrome 11Nov 23, 2023
Lethal congenital contracture syndrome 21Oct 19, 2023
Lethal congenital contracture syndrome 71Dec 12, 2023
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome3May 2, 2024
Lethal multiple pterygium syndrome1Nov 23, 2023
Lethal tight skin contracture syndrome1Dec 12, 2023
Leukocyte adhesion deficiency 14Jun 13, 2024
Leukocyte adhesion deficiency 33Oct 19, 2023
Leukocyte adhesion deficiency type II1Feb 2, 2022