Biochemical Molecular Genetic Laboratory (King Abdulaziz Medical City)

General information

Biochemical Molecular Genetic Laboratory
King Abdulaziz Medical City
Riyadh
Ar Riyad
Saudi Arabia - 11246
http://ngha.med.sa/English/MediaCenter/News/Pages/XVIINovII.aspx
Organization ID: 506517

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 899

Gene

GeneSubmissionsLast Updated
AAAS2Sep 26, 2019
ABCA31Jan 13, 2021
ABCB113Sep 26, 2019
ABCB41Apr 11, 2018
ABCC21Sep 4, 2018
ABCC61Feb 12, 2020
ABCC81Sep 4, 2018
ABCD12Jan 13, 2021
ABHD14A-ACY11Sep 26, 2019
ACADM1Jan 13, 2021
ACADS1Sep 26, 2019
ACADVL5Jan 13, 2021
ACAN1Sep 26, 2019
ACAT11Sep 26, 2019
ACO21Sep 4, 2018
ACTA11Feb 12, 2020
ACTB1Feb 12, 2020
ACTL6B1Feb 12, 2020
ACVR11Sep 26, 2019
ACY11Sep 26, 2019
ADA21Sep 26, 2019
ADAT31Sep 26, 2019
ADGRV11Sep 26, 2019
ADK1Sep 26, 2019
ADNP2Feb 12, 2020
AGK2Sep 26, 2019
AGL2Feb 12, 2020
AGPAT21Sep 26, 2019
AGXT1Jan 13, 2021
AHDC11Sep 26, 2019
AIRE2Jan 13, 2021
AK21Jan 13, 2021
AKR1D11Sep 26, 2019
AKT21Jan 13, 2021
ALDOB2Jan 13, 2021
ALMS11Sep 4, 2018
ALOX12B2Jan 13, 2021
ALPK31Jan 13, 2021
ANKRD112Jan 13, 2021
ANKRD262Jan 13, 2021
ANTXR21Jan 13, 2021
AP2S11Jan 13, 2021
APC1Feb 12, 2020
APOB1Feb 12, 2020
AQP21Feb 12, 2020
AQP5-AS11Feb 12, 2020
ARHGEF21Sep 26, 2019
ARHGEF91Sep 4, 2018
ARID1A1Jan 13, 2021
ARID1B6Jan 13, 2021
ARSA1Jan 13, 2021
ARSB2Sep 26, 2019
ARSL1Feb 12, 2020
ASH1L1Sep 26, 2019
ASIC4-AS11Sep 26, 2019
ASL1Sep 26, 2019
ASNS3Jan 13, 2021
ASPM6Jan 13, 2021
ASS12Jan 13, 2021
ASXL31Sep 26, 2019
ATAD3A1Sep 4, 2018
ATF62Sep 26, 2019
ATL11Sep 26, 2019
ATM1Sep 26, 2019
ATP1A31Feb 12, 2020
ATP7B3Jan 13, 2021
ATP8A22Sep 26, 2019
ATP8B11Sep 26, 2019
ATRX1Sep 4, 2018
AXDND11Jan 13, 2021
BBS41Sep 26, 2019
BBS92Jan 13, 2021
BCKDHA2Jan 13, 2021
BCKDHB1Jan 13, 2021
BCOR1Feb 12, 2020
BIVM-ERCC51Sep 26, 2019
BPTF1Sep 26, 2019
BRCA11Jan 13, 2021
BRCA24Feb 12, 2020
BRWD31Sep 26, 2019
BTD2Jan 13, 2021
C12orf572Sep 26, 2019
C1QA1Feb 12, 2020
C1QC1Sep 26, 2019
C2CD32Sep 26, 2019
C61Sep 26, 2019
CA21Sep 26, 2019
CACNA1E1Sep 26, 2019
CACNA1H1Feb 12, 2020
CASK1Sep 4, 2018
CAV31Sep 26, 2019
CBL2Feb 12, 2020
CBS2Jan 13, 2021
CC2D1A2Feb 12, 2020
CC2D2A1Sep 26, 2019
CCDC402Jan 13, 2021
CCDC471Jan 13, 2021
CCDC781Sep 26, 2019
CCDC81Jan 13, 2021
CCN62Feb 12, 2020
CCNO1Sep 26, 2019
CDH231Sep 26, 2019
CDH31Sep 26, 2019
CDK131Sep 26, 2019
CDKL52Jan 13, 2021
CDKN1B1Sep 26, 2019
CEL2Feb 12, 2020
CEP1521Sep 26, 2019
CEP1642Jan 13, 2021
CEP2902Jan 13, 2021
CERS31Sep 26, 2019
CERT11Sep 4, 2018
CFL21Sep 26, 2019
CFTR2Jan 13, 2021
CHAMP11Sep 4, 2018
CHD72Sep 26, 2019
CHRNA21Sep 26, 2019
CHRNG1Sep 26, 2019
CHST141Feb 12, 2020
CHST31Feb 12, 2020
CIC1Sep 26, 2019
CIT3Sep 26, 2019
CLDN161Sep 4, 2018
CLN52Feb 12, 2020
CLN61Sep 26, 2019
CLN82Sep 26, 2019
CNGA33Sep 26, 2019
CNPY31Sep 26, 2019
CNPY3-GNMT1Sep 26, 2019
CNTNAP11Sep 26, 2019
CNTNAP21Sep 26, 2019
COG51Sep 4, 2018
COG61Sep 26, 2019
COG71Sep 26, 2019
COL10A11Sep 26, 2019
COL12A11Sep 26, 2019
COL17A11Sep 4, 2018
COL18A11Sep 26, 2019
COL1A21Sep 26, 2019
COL2A12Sep 26, 2019
COL4A12Jan 13, 2021
COL4A21Feb 12, 2020
COL4A2-AS11Feb 12, 2020
COL5A11Sep 26, 2019
COL6A22Sep 26, 2019
COL6A32Sep 26, 2019
COL7A11Sep 26, 2019
COMP1Sep 26, 2019
COQ21Apr 11, 2018
COQ8A2Sep 26, 2019
COQ8B1Sep 26, 2019
COQ91Sep 26, 2019
CPLANE13Sep 26, 2019
CPT22Jan 13, 2021
CREBBP1Sep 4, 2018
CRLF11Jan 13, 2021
CRPPA1Sep 26, 2019
CRYBA41Feb 12, 2020
CRYBB11Feb 12, 2020
CSPP11Sep 26, 2019
CTNNB13Jan 13, 2021
CTNND11Sep 26, 2019
CTSA1Sep 26, 2019
CTU21Sep 26, 2019
CUBN1Sep 26, 2019
CUL72Feb 12, 2020
CWF19L11Sep 26, 2019
CYP1B12Sep 26, 2019
CYP21A22Sep 26, 2019
CYP27B12Feb 12, 2020
CYP2U11Sep 4, 2018
CYP4F222Feb 12, 2020
CZ1P-ASNS3Jan 13, 2021
DACT11Apr 11, 2018
DCAF171Sep 26, 2019
DDC1Sep 26, 2019
DDHD11Sep 26, 2019
DDX111Sep 26, 2019
DDX592Jan 13, 2021
DEAF11Sep 4, 2018
DGUOK1Sep 26, 2019
DGUOK-AS11Sep 26, 2019
DHCR73Jan 13, 2021
DHDDS1Sep 26, 2019
DIAPH11Feb 12, 2020
DLD2Sep 26, 2019
DLL41Sep 26, 2019
DLX31Sep 26, 2019
DMD1Sep 26, 2019
DNAH53Jan 13, 2021
DNAI11Jan 13, 2021
DNAJC121Sep 26, 2019
DNAJC191Jan 13, 2021
DNAJC31Jan 13, 2021
DNMT3A1Feb 12, 2020
DNMT3B1Sep 26, 2019
DOCK81Sep 26, 2019
DPAGT11Sep 26, 2019
DPH11Jan 13, 2021
DSC21Sep 4, 2018
DSE1Sep 4, 2018
DSP2Feb 12, 2020
DST1Jan 13, 2021
DSTYK1Feb 12, 2020
DUSP291Sep 4, 2018
DVL31Sep 26, 2019
DYNC1H11Sep 26, 2019
DYNC2LI11Sep 26, 2019
EBF32Jan 13, 2021
ECEL12Feb 12, 2020
ECHS11Apr 11, 2018
EDAR1Feb 12, 2020
EDN11Sep 4, 2018
EFEMP21Sep 26, 2019
EIF2AK31Jan 13, 2021
EIF2B21Sep 26, 2019
EIF2B41Sep 26, 2019
ELAC22Sep 26, 2019
ELN1Sep 4, 2018
ENPP11Sep 26, 2019
EPCAM1Sep 4, 2018
EPG51Feb 12, 2020
EPRS11Sep 26, 2019
ERBB31Sep 26, 2019
ERCC11Sep 4, 2018
ERCC51Sep 26, 2019
ERCC61Sep 26, 2019
ESCO21Sep 26, 2019
ETFA1Sep 26, 2019
ETFB1Sep 26, 2019
ETHE11Sep 26, 2019
EXOSC91Jan 13, 2021
EXT11Sep 26, 2019
EYS1Jan 13, 2021
F81Sep 4, 2018
F91Feb 12, 2020
FAM83H1Feb 12, 2020
FANCG1Jan 13, 2021
FAR11Sep 26, 2019
FARS21Sep 26, 2019
FBN12Feb 12, 2020
FBP11Jan 13, 2021
FBXL32Feb 12, 2020
FBXL41Sep 26, 2019
FBXO111Feb 12, 2020
FBXO381Feb 12, 2020
FGFR32Jan 13, 2021
FIBP1Sep 26, 2019
FIG41Sep 26, 2019
FKBP141Jan 13, 2021
FKRP2Sep 26, 2019
FLG-AS11Sep 4, 2018
FLG21Sep 4, 2018
FLNA1Sep 26, 2019
FLNB1Feb 12, 2020
FOXL21Sep 26, 2019
FRAS12Jan 13, 2021
FZD41Sep 26, 2019
FZD61Jan 13, 2021
G6PC11Jan 13, 2021
G6PD4Sep 26, 2019
GAA5Jan 13, 2021
GABRA11Sep 26, 2019
GABRD1Sep 4, 2018
GAD11Sep 26, 2019
GALC1Sep 4, 2018
GALNS3Feb 12, 2020
GALT3Jan 13, 2021
GBE11Sep 4, 2018
GCDH1Jan 13, 2021
GCSH1Sep 4, 2018
GDAP11Sep 26, 2019
GDF51Feb 12, 2020
GDF5-AS11Feb 12, 2020
GFAP1Jan 13, 2021
GLB11Sep 26, 2019
GLDC1Sep 26, 2019
GLI31Sep 26, 2019
GM2A1Sep 26, 2019
GNE2Jan 13, 2021
GORAB1Sep 26, 2019
GP91Jan 13, 2021
GRIA31Sep 26, 2019
GRID21Sep 26, 2019
GRIN2A1Sep 26, 2019
GRIN2B3Jan 13, 2021
GSS1Sep 26, 2019
GTPBP21Sep 26, 2019
GTPBP31Sep 26, 2019
GUCY2D1Sep 26, 2019
GUSB2Jan 13, 2021
HAX11Sep 26, 2019
HBA21Sep 26, 2019
HBB2Sep 26, 2019
HDAC81Sep 26, 2019
HECW21Feb 12, 2020
HEXB3Jan 13, 2021
HIBCH1Sep 26, 2019
HJV1Sep 26, 2019
HMGA21Sep 26, 2019
HMGCL1Sep 26, 2019
HNF4A1Feb 12, 2020
HOXA11Sep 26, 2019
HPS51Sep 26, 2019
HSD11B22Sep 26, 2019
HSPG21Sep 26, 2019
HUWE11Feb 12, 2020
HYLS11Sep 26, 2019
IDH21Feb 12, 2020
IFT571Sep 4, 2018
IGF1R1Sep 26, 2019
IGHMBP21Sep 26, 2019
IHH2Sep 26, 2019
IL12B1Sep 26, 2019
IL12RB11Jan 13, 2021
IL4I11Sep 26, 2019
INCA11Sep 26, 2019
INPP5E2Sep 26, 2019
INSR1Sep 26, 2019
ISCA21Sep 26, 2019
ITGA2B1Feb 12, 2020
ITGB31Sep 26, 2019
KANK11Sep 4, 2018
KANSL11Jan 13, 2021
KAT6A1Feb 12, 2020
KAT6B1Sep 4, 2018
KATNIP2Feb 12, 2020
KCNA22Sep 26, 2019
KCNB12Feb 12, 2020
KCNK31Sep 4, 2018
KCNQ14Jan 13, 2021
KCNQ1OT11Sep 26, 2019
KCNQ22Sep 26, 2019
KCNV21Jan 13, 2021
KCTD71Sep 26, 2019
KDM5C1Sep 4, 2018
KIAA05862Jan 13, 2021
KIAA11091Sep 26, 2019
KIF112Jan 13, 2021
KIF141Jan 13, 2021
KIF1C1Sep 26, 2019
KIF2A1Sep 26, 2019
KISS1R1Sep 26, 2019
KIT1Sep 4, 2018
KMT2D1Feb 12, 2020
KNL12Jan 13, 2021
KRIT11Sep 26, 2019
LACC12Jan 13, 2021
LAMA24Sep 26, 2019
LAMA31Sep 4, 2018
LARP72Sep 26, 2019
LARS21Sep 4, 2018
LDLR4Feb 12, 2020
LEMD31Sep 4, 2018
LGI41Sep 26, 2019
LHX31Sep 4, 2018
LINS11Sep 26, 2019
LIX1L-AS11Jan 13, 2021
LMBRD11Sep 26, 2019
LMF11Jan 13, 2021
LMNA1Feb 12, 2020
LOC1019278701Sep 26, 2019
LOC1019283351Sep 26, 2019
LOC1053710491Jan 13, 2021
LOC1060293122Jan 13, 2021
LOC1060990622Sep 26, 2019
LOC1067808002Sep 26, 2019
LOC1068046121Sep 26, 2019
LOC1071335102Sep 26, 2019
LOC1073033401Feb 12, 2020
LOC1129975401Apr 11, 2018
LONP11Sep 26, 2019
LPAR61Sep 4, 2018
LRBA3Jan 13, 2021
LRPPRC2Sep 26, 2019
LTBP21Sep 4, 2018
LTBP41Sep 26, 2019
LYST1Feb 12, 2020
LZTFL11Feb 12, 2020
LZTR11Sep 26, 2019
MAB21L21Sep 26, 2019
MACF11Feb 12, 2020
MAGEL21Jan 13, 2021
MAN1B11Sep 26, 2019
MAP3K72Sep 26, 2019
MAPK8IP31Feb 12, 2020
MAPKBP11Sep 26, 2019
MC2R1Jan 13, 2021
MC4R1Feb 12, 2020
MCCC21Jan 13, 2021
MCFD21Sep 26, 2019
MCOLN11Sep 26, 2019
MCPH11Jan 13, 2021
MECP21Sep 26, 2019
MED122Sep 26, 2019
MEFV3Jan 13, 2021
MHRT2Sep 26, 2019
MICU11Sep 26, 2019
MID21Sep 26, 2019
MIR302CHG2Sep 26, 2019
MKKS1Sep 26, 2019
MLPH1Jan 13, 2021
MMAA1Feb 12, 2020
MMACHC2Jan 13, 2021
MMP131Sep 4, 2018
MMUT2Jan 13, 2021
MPDZ3Jan 13, 2021
MPIG6B2Jan 13, 2021
MPV171Jan 13, 2021
MPZL21Jan 13, 2021
MRE112Sep 26, 2019
MSH21Sep 4, 2018
MTHFD11Sep 26, 2019
MTHFR2Feb 12, 2020
MTMR22Jan 13, 2021
MYBPC11Sep 4, 2018
MYH112Feb 12, 2020
MYH31Feb 12, 2020
MYH73Sep 26, 2019
MYO15A2Sep 26, 2019
MYO18B2Sep 26, 2019
MYO5A1Sep 4, 2018
MYO5B2Jan 13, 2021
MYO61Sep 26, 2019
MYO7A3Feb 12, 2020
MYT1L1Sep 4, 2018
NAA151Sep 26, 2019
NALCN3Sep 26, 2019
NCAPH21Sep 26, 2019
NCF12Jan 13, 2021
NDE13Feb 12, 2020
NDRG11Sep 26, 2019
NDUFA121Sep 26, 2019
NDUFAF51Sep 26, 2019
NDUFS12Sep 26, 2019
NDUFS21Sep 26, 2019
NDUFS61Sep 26, 2019
NDUFS81Feb 12, 2020
NDUFV11Sep 26, 2019
NEB1Sep 26, 2019
NEK11Jan 13, 2021
NEMF1Jan 13, 2021
NF14Feb 12, 2020
NFIB1Sep 26, 2019
NIPBL1Jan 13, 2021
NKX2-11Jan 13, 2021
NKX6-21Sep 4, 2018
NLRP31Feb 12, 2020
NNT1Sep 26, 2019
NOC3L1Sep 26, 2019
NPC11Jan 13, 2021
NPHP31Sep 26, 2019
NPHP3-ACAD111Sep 26, 2019
NPHS11Sep 26, 2019
NPHS21Jan 13, 2021
NPR24Jan 13, 2021
NR2C2AP1Jan 13, 2021
NR2F11Sep 26, 2019
NR2F21Feb 12, 2020
NR5A11Sep 26, 2019
NSD11Sep 26, 2019
NSDHL1Sep 26, 2019
NSUN21Feb 12, 2020
NT5DC11Sep 26, 2019
NTRK11Sep 26, 2019
NUP621Sep 26, 2019
OCA21Sep 26, 2019
OCLN1Sep 26, 2019
ODAD41Sep 26, 2019
OFD11Sep 26, 2019
OPHN11Jan 13, 2021
OTOF1Apr 11, 2018
OXCT12Feb 12, 2020
P3H12Jan 13, 2021
PARK71Feb 12, 2020
PARS21Sep 4, 2018
PAX11Feb 12, 2020
PAX31Sep 26, 2019
PCARE1Jan 13, 2021
PCCA2Sep 26, 2019
PCCB1Sep 26, 2019
PCDH151Jan 13, 2021
PCNT1Sep 26, 2019
PDHA12Feb 12, 2020
PEX11Sep 26, 2019
PEX52Sep 4, 2018
PGAP31Sep 26, 2019
PGK11Sep 26, 2019
PGM11Sep 26, 2019
PIEZO22Sep 26, 2019
PIGA2Feb 12, 2020
PIGQ1Jan 13, 2021
PINK11Sep 26, 2019
PKD16Jan 13, 2021
PKD22Jan 13, 2021
PKHD14Jan 13, 2021
PLA2G61Sep 26, 2019
PLCE12Sep 26, 2019
PLD11Jan 13, 2021
PMM22Jan 13, 2021
PMS23Feb 12, 2020
POGZ1Sep 26, 2019
POLG1Sep 26, 2019
POLR1A1Sep 4, 2018
POLR1C1Sep 26, 2019
POMC1Sep 4, 2018
POMT11Sep 26, 2019
POMT21Jan 13, 2021
PORCN1Feb 12, 2020
PRF12Jan 13, 2021
PRG42Jan 13, 2021
PROC1Sep 26, 2019
PROKR22Jan 13, 2021
PRRT21Jan 13, 2021
PRSS231Sep 26, 2019
PRUNE11Sep 4, 2018
PRX1Sep 26, 2019
PSAP1Sep 26, 2019
PSPH1Jan 13, 2021
PSTPIP11Sep 26, 2019
PTDSS11Sep 26, 2019
PTEN2Jan 13, 2021
PTF1A1Sep 26, 2019
PTH1R1Sep 4, 2018
PTPN117Jan 13, 2021
PTRH21Sep 26, 2019
PUF601Sep 26, 2019
PUS31Sep 26, 2019
PYCR11Sep 26, 2019
PYCR21Sep 26, 2019
QARS11Feb 12, 2020
RAB27A1Sep 26, 2019
RAB3GAP12Sep 26, 2019
RAD501Sep 26, 2019
RAF11Feb 12, 2020
RAI11Sep 26, 2019
RARB1Sep 26, 2019
RB11Sep 4, 2018
RBCK12Jan 13, 2021
RBM8A1Jan 13, 2021
RELN2Jan 13, 2021
RETREG11Sep 26, 2019
RFT11Feb 12, 2020
RFXANK6Jan 13, 2021
RGS9BP1Jan 13, 2021
RHOBTB21Sep 26, 2019
RIMS11Feb 12, 2020
RIPK11Sep 26, 2019
RIT12Feb 12, 2020
RMND11Sep 26, 2019
RNASEH2A1Sep 26, 2019
RNASEH2B1Sep 26, 2019
RNF2161Sep 26, 2019
ROBO31Sep 4, 2018
RP11Sep 26, 2019
RP1L11Jan 13, 2021
RPGRIP11Sep 26, 2019
RPL111Jan 13, 2021
RS11Jan 13, 2021
RUBCN2Sep 26, 2019
RUNX11Sep 26, 2019
RUNX21Feb 12, 2020
SACS1Jan 13, 2021
SAMHD13Sep 26, 2019
SATB21Feb 12, 2020
SCAMP41Sep 26, 2019
SCARB21Jan 13, 2021
SCARF21Jan 13, 2021
SCN1A1Sep 26, 2019
SCN1B1Sep 26, 2019
SCN2A1Jan 13, 2021
SCN3A1Feb 12, 2020
SCO22Feb 12, 2020
SCYL11Sep 26, 2019
SDCCAG81Sep 26, 2019
SELENON2Sep 4, 2018
SERAC12Sep 26, 2019
SETD51Sep 26, 2019
SFTA31Jan 13, 2021
SH3PXD2B1Sep 26, 2019
SHANK21Feb 12, 2020
SKIV2L2Feb 12, 2020
SLC11A21Sep 26, 2019
SLC13A52Sep 26, 2019
SLC16A11Sep 26, 2019
SLC16A21Sep 26, 2019
SLC17A51Sep 26, 2019
SLC19A11Sep 26, 2019
SLC19A31Sep 26, 2019
SLC1A41Sep 26, 2019
SLC22A51Sep 26, 2019
SLC25A221Sep 26, 2019
SLC25A421Sep 26, 2019
SLC26A31Sep 26, 2019
SLC26A42Feb 12, 2020
SLC2A101Sep 26, 2019
SLC2A91Sep 26, 2019
SLC36A21Sep 4, 2018
SLC37A43Jan 13, 2021
SLC39A81Sep 26, 2019
SLC3A11Sep 26, 2019
SLC45A21Feb 12, 2020
SLC4A111Jan 13, 2021
SLC52A31Sep 26, 2019
SLC5A11Jan 13, 2021
SLC6A11Feb 12, 2020
SLC9A31Sep 4, 2018
SLITRK61Sep 4, 2018
SMAD62Jan 13, 2021
SMARCA21Jan 13, 2021
SMG91Sep 4, 2018
SMPD11Sep 26, 2019
SMS1Sep 26, 2019
SNHG142Jan 13, 2021
SNHG221Sep 26, 2019
SNX142Sep 26, 2019
SOS11Sep 4, 2018
SOX51Sep 4, 2018
SPAG83Jan 13, 2021
SPAST1Sep 26, 2019
SPATA51Jan 13, 2021
SPEG1Sep 26, 2019
SPTA12Feb 12, 2020
SPTBN41Sep 26, 2019
SRP541Jan 13, 2021
SRPX21Sep 4, 2018
ST3GAL51Feb 12, 2020
STRADA1Sep 26, 2019
STX111Sep 26, 2019
STXBP21Sep 26, 2019
SUMF11Sep 4, 2018
SUOX1Sep 26, 2019
SYNGAP11Sep 26, 2019
SYT11Feb 12, 2020
SZT21Sep 4, 2018
TAFAZZIN1Jan 13, 2021
TALDO12Sep 26, 2019
TBC1D241Sep 26, 2019
TBCD2Sep 26, 2019
TBCE1Feb 12, 2020
TBCK1Jan 13, 2021
TBK11Feb 12, 2020
TBX192Feb 12, 2020
TBX41Sep 26, 2019
TBXAS11Jan 13, 2021
TCF121Jan 13, 2021
TCF41Jan 13, 2021
TCIRG11Sep 26, 2019
TCOF11Jan 13, 2021
TCTN11Jan 13, 2021
TDRD71Sep 26, 2019
TECRL1Feb 12, 2020
TFRC1Sep 26, 2019
TG1Feb 12, 2020
TGFBR21Sep 4, 2018
TGM51Feb 12, 2020
THOC21Sep 4, 2018
THOC61Feb 12, 2020
THPO1Sep 26, 2019
TIGD11Sep 26, 2019
TJP21Sep 26, 2019
TMEM2311Sep 4, 2018
TMLHE1Feb 12, 2020
TMPRSS32Jan 13, 2021
TMX2-CTNND11Sep 26, 2019
TNFRSF13B1Jan 13, 2021
TNXB1Sep 4, 2018
TP531Feb 12, 2020
TRAK11Feb 12, 2020
TRAPPC112Sep 26, 2019
TRAPPC91Sep 26, 2019
TRIOBP1Feb 12, 2020
TRPV41Jan 13, 2021
TSC11Feb 12, 2020
TSC21Feb 12, 2020
TTC372Sep 26, 2019
TTN6Jan 13, 2021
TTN-AS12Sep 26, 2019
TUBA1A4Jan 13, 2021
TUBA81Sep 4, 2018
TUBB2A1Sep 26, 2019
TUBB2B1Sep 26, 2019
TUBGCP61Jan 13, 2021
TULP11Feb 12, 2020
TUSC31Jan 13, 2021
TWIST11Sep 26, 2019
TYMP1Feb 12, 2020
TYR2Sep 26, 2019
UBE3A2Jan 13, 2021
UBR11Sep 26, 2019
UCP31Sep 26, 2019
UGDH1Sep 4, 2018
UNC802Jan 13, 2021
UPB11Jan 13, 2021
USB11Sep 26, 2019
USH1G1Sep 26, 2019
USH2A1Sep 26, 2019
USP181Jan 13, 2021
USP9X1Sep 4, 2018
VARS11Feb 12, 2020
VDR1Jan 13, 2021
VHL1Feb 12, 2020
VPS13B2Sep 26, 2019
VSX21Jan 13, 2021
VWF1Sep 26, 2019
WARS21Sep 4, 2018
WDR191Sep 26, 2019
WDR351Sep 26, 2019
WFS11Sep 4, 2018
WNT11Sep 4, 2018
WNT10B1Apr 11, 2018
WRN1Jan 13, 2021
XPC1Sep 26, 2019
XYLT21Sep 26, 2019
YWHAG1Jan 13, 2021
ZEB21Sep 26, 2019
ZNF3351Sep 26, 2019
ZNF4231Sep 26, 2019
ZNF4621Feb 12, 2020
ZNF7111Sep 4, 2018

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 21Jan 13, 2021
3-methylcrotonyl CoA carboxylase 2 deficiency1Jan 13, 2021
3-methylglutaconic aciduria type V1Jan 13, 2021
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2Sep 26, 2019
46,XY sex reversal, type 31Sep 26, 2019
ABCC8-related disorder1Sep 4, 2018
ACTH resistance1Jan 13, 2021
Achondroplasia1Jan 13, 2021
Achromatopsia 23Sep 26, 2019
Achromatopsia 72Sep 26, 2019
Acrocapitofemoral dysplasia2Sep 26, 2019
Acrofacial dysostosis, Cincinnati type1Sep 4, 2018
Adams-Oliver syndrome 61Sep 26, 2019
Adenosine kinase deficiency1Sep 26, 2019
Adrenocorticotropic hormone deficiency2Feb 12, 2020
Adrenoleukodystrophy2Jan 13, 2021
Aicardi Goutieres syndrome 21Sep 26, 2019
Aicardi Goutieres syndrome 41Sep 26, 2019
Aicardi Goutieres syndrome 53Sep 26, 2019
Alazami syndrome2Sep 26, 2019
Alexander Disease1Jan 13, 2021
Alkuraya-Kucinskas syndrome1Sep 26, 2019
Allan-Herndon-Dudley syndrome1Sep 26, 2019
Alstrom syndrome1Sep 4, 2018
Alternating hemiplegia of childhood 21Feb 12, 2020
Amelogenesis imperfecta, hypocalcification type1Feb 12, 2020
Aminoacylase 1 deficiency1Sep 26, 2019
Amyotrophic lateral sclerosis, susceptibility to, 241Jan 13, 2021
Anemia, hypochromic microcytic, with iron overload 11Sep 26, 2019
Anemia, nonspherocytic hemolytic, due to G6PD deficiency4Sep 26, 2019
Angelman syndrome2Jan 13, 2021
Aortic aneurysm, familial thoracic 42Feb 12, 2020
Apparent mineralocorticoid excess2Sep 26, 2019
Argininosuccinate lyase deficiency1Sep 26, 2019
Arrhythmogenic right ventricular cardiomyopathy, type 111Sep 4, 2018
Arterial calcification, generalized, of infancy, 11Sep 26, 2019
Arterial tortuosity syndrome1Sep 26, 2019
Arthrogryposis multiplex congenita, neurogenic, with myelin defect1Sep 26, 2019
Arthrogryposis, distal, type 2B31Feb 12, 2020
Arthrogryposis, distal, with impaired proprioception and touch2Sep 26, 2019
Asparagine synthetase deficiency3Jan 13, 2021
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus1Jan 13, 2021
Ataxia, spastic, 2, autosomal recessive1Sep 26, 2019
Ataxia-telangiectasia syndrome1Sep 26, 2019
Ataxia-telangiectasia-like disorder 12Sep 26, 2019
Autism 171Feb 12, 2020
Autism, susceptibility to, X-linked 61Feb 12, 2020
Autosomal dominant KCNQ1-related disease2Sep 26, 2019
Autosomal dominant MYH7-related disorder1Sep 26, 2019
Autosomal dominant SCN1A-related disorder1Sep 26, 2019
Autosomal dominant nonsyndromic deafness 221Sep 26, 2019
Autosomal recessive AGK-related phenotype1Sep 26, 2019
Autosomal recessive congenital ichthyosis 22Jan 13, 2021
Autosomal recessive congenital ichthyosis 52Feb 12, 2020
Autosomal recessive congenital ichthyosis 91Sep 26, 2019
Autosomal recessive cutis laxa type 1B1Sep 26, 2019
Autosomal recessive cutis laxa type 2B1Sep 26, 2019
Autosomal recessive multiple pterygium syndrome1Sep 26, 2019
Autosomal recessive osteopetrosis 11Sep 26, 2019
Autosomal recessive polycystic kidney disease3Sep 26, 2019
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 201Feb 12, 2020
Bainbridge-Ropers syndrome1Sep 26, 2019
Baraitser-Winter syndrome 11Feb 12, 2020
Bardet-Biedl syndrome 161Sep 26, 2019
Bardet-Biedl syndrome 171Feb 12, 2020
Bardet-Biedl syndrome 41Sep 26, 2019
Bardet-Biedl syndrome 61Sep 26, 2019
Bardet-Biedl syndrome 92Jan 13, 2021
Bare lymphocyte syndrome 26Jan 13, 2021
Beaulieu-Boycott-Innes syndrome1Feb 12, 2020
Bernard Soulier syndrome1Jan 13, 2021
Beta-hydroxyisobutyryl-CoA deacylase deficiency1Sep 26, 2019
Biotin-responsive basal ganglia disease1Sep 26, 2019
Biotinidase deficiency2Jan 13, 2021
Blepharocheilodontic syndrome 21Sep 26, 2019
Blepharophimosis - intellectual disability syndrome, SBBYS type1Sep 4, 2018
Blepharophimosis, ptosis, and epicanthus inversus1Sep 26, 2019
Bosch-Boonstra-Schaaf optic atrophy syndrome1Sep 26, 2019
Bradyopsia1Jan 13, 2021
Brain small vessel disease 1 with or without ocular anomalies2Jan 13, 2021
Breast-ovarian cancer, familial 11Jan 13, 2021
C1q deficiency2Feb 12, 2020
CHARGE association2Sep 26, 2019
CNTNAP1-related disease1Sep 26, 2019
CODAS syndrome1Sep 26, 2019
COG6-related disorder1Sep 26, 2019
COG7 congenital disorder of glycosylation1Sep 26, 2019
COL1A2-Related Disorder1Sep 26, 2019
COL2A1-related phenotype1Sep 26, 2019
COL6A2-related disorder1Sep 4, 2018
COL6A3-related phenotype2Sep 26, 2019
COL7A1-related disorders1Sep 26, 2019
COMP-related disorders1Sep 26, 2019
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome2Jan 13, 2021
Cardiac valvular defect, developmental1Jan 13, 2021
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency1Sep 26, 2019
Cardiomyopathy, familial hypertrophic 271Jan 13, 2021
Carnitine palmitoyltransferase II deficiency, infantile1Sep 26, 2019
Carnitine palmitoyltransferase II deficiency, lethal neonatal1Jan 13, 2021
Cataract 411Sep 4, 2018
Cataract, autosomal recessive congenital 41Sep 26, 2019
Cataract, congenital nuclear, autosomal recessive 31Feb 12, 2020
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 42Sep 26, 2019
Cerebral cavernous malformation1Sep 26, 2019
Cerebral palsy, spastic quadriplegic, 11Sep 26, 2019
Cerebral palsy, spastic quadriplegic, 21Sep 4, 2018
Cerebrooculofacioskeletal syndrome 31Sep 26, 2019
Cerebrooculofacioskeletal syndrome 41Sep 4, 2018
Charcot-Marie-Tooth disease axonal type 2K1Sep 26, 2019
Charcot-Marie-Tooth disease, demyelinating, type 4F1Sep 26, 2019
Charcot-Marie-Tooth disease, type 4B12Jan 13, 2021
Charcot-Marie-Tooth disease, type 4D1Sep 26, 2019
Charlevoix-Saguenay spastic ataxia1Jan 13, 2021
Child syndrome1Sep 26, 2019
Cholestasis, progressive familial intrahepatic 11Sep 26, 2019
Choreoathetosis, hypothyroidism, and neonatal respiratory distress1Jan 13, 2021
Chromosome 2q32-q33 deletion syndrome1Feb 12, 2020
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 12Jan 13, 2021
Chronic infantile neurological, cutaneous and articular syndrome1Feb 12, 2020
Chédiak-Higashi syndrome1Feb 12, 2020
Ciliary dyskinesia, primary, 152Jan 13, 2021
Ciliary dyskinesia, primary, 291Sep 26, 2019
Ciliary dyskinesia, primary, 33Jan 13, 2021
Ciliary dyskinesia, primary, 351Sep 26, 2019
Citrullinemia type I2Jan 13, 2021
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2Sep 26, 2019
Classic homocystinuria2Jan 13, 2021
Cleidocranial dysostosis1Feb 12, 2020
Cobalamin C disease2Jan 13, 2021
Cockayne syndrome B1Sep 26, 2019
Coenzyme Q10 deficiency, primary 11Apr 11, 2018
Coenzyme Q10 deficiency, primary, 42Sep 26, 2019
Coenzyme Q10 deficiency, primary, 51Sep 26, 2019
Coffin-Siris syndrome 16Jan 13, 2021
Cohen syndrome2Sep 26, 2019
Cold-induced sweating syndrome 11Jan 13, 2021
Combined deficiency of sialidase AND beta galactosidase1Sep 26, 2019
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1Sep 26, 2019
Combined oxidative phosphorylation deficiency 111Sep 26, 2019
Combined oxidative phosphorylation deficiency 141Sep 26, 2019
Combined oxidative phosphorylation deficiency 172Sep 26, 2019
Combined oxidative phosphorylation deficiency 231Sep 26, 2019
Common variable immunodeficiency 21Jan 13, 2021
Common variable immunodeficiency 8, with autoimmunity2Jan 13, 2021
Complement component 6 deficiency1Sep 26, 2019
Cone dystrophy with supernormal rod response1Jan 13, 2021
Cone-rod dystrophy 71Feb 12, 2020
Congenital anomalies of kidney and urinary tract 1, susceptibility to1Feb 12, 2020
Congenital bile acid synthesis defect 21Sep 26, 2019
Congenital disorder of glycosylation type 1N1Feb 12, 2020
Congenital disorder of glycosylation type 1t1Sep 26, 2019
Congenital disorder of glycosylation type 2i1Sep 4, 2018
Congenital disorder of glycosylation, type Ia2Jan 13, 2021
Congenital generalized lipodystrophy type 11Sep 26, 2019
Congenital glucose-galactose malabsorption1Jan 13, 2021
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Sep 26, 2019
Congenital heart defects, multiple types, 41Feb 12, 2020
Congenital hypotrichosis with juvenile macular dystrophy1Sep 26, 2019
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type2Sep 26, 2019
Congenital microvillous atrophy2Jan 13, 2021
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A21Jan 13, 2021
Congenital secretory diarrhea, chloride type1Sep 26, 2019
Corneal endothelial dystrophy1Jan 13, 2021
Cornelia de Lange syndrome 11Jan 13, 2021
Cornelia de Lange syndrome 51Sep 26, 2019
Cortical dysplasia, complex, with other brain malformations 31Sep 26, 2019
Cortical dysplasia, complex, with other brain malformations 51Sep 26, 2019
Cowden syndrome 12Jan 13, 2021
Coxopodopatellar syndrome1Sep 26, 2019
Cranioectodermal dysplasia 21Sep 26, 2019
Craniosynostosis 31Jan 13, 2021
Craniosynostosis 71Jan 13, 2021
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities1Sep 26, 2019
Cystic fibrosis2Jan 13, 2021
Cystinuria1Sep 26, 2019
D-2-hydroxyglutaric aciduria 21Feb 12, 2020
DACT1-related neural tube defects1Apr 11, 2018
DPAGT1-CDG1Sep 26, 2019
Deafness and myopia1Sep 4, 2018
Deafness, autosomal dominant 11Feb 12, 2020
Deafness, autosomal dominant 111Sep 26, 2019
Deafness, autosomal dominant 651Sep 26, 2019
Deafness, autosomal recessive 1111Jan 13, 2021
Deafness, autosomal recessive 231Jan 13, 2021
Deafness, autosomal recessive 281Feb 12, 2020
Deafness, autosomal recessive 32Sep 26, 2019
Deafness, autosomal recessive 82Jan 13, 2021
Deafness, autosomal recessive 91Apr 11, 2018
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase3Jan 13, 2021
Deficiency of acetyl-CoA acetyltransferase1Sep 26, 2019
Deficiency of aromatic-L-amino-acid decarboxylase1Sep 26, 2019
Deficiency of beta-ureidopropionase1Jan 13, 2021
Deficiency of butyryl-CoA dehydrogenase1Sep 26, 2019
Deficiency of hydroxymethylglutaryl-CoA lyase1Sep 26, 2019
Deficiency of phosphoserine phosphatase1Jan 13, 2021
Deficiency of transaldolase2Sep 26, 2019
Dermatofibrosis lenticularis disseminata1Sep 4, 2018
Developmental and epileptic encephalopathy, 561Jan 13, 2021
Developmental and epileptic encephalopathy, 601Sep 26, 2019
Developmental and epileptic encephalopathy, 641Sep 26, 2019
Developmental and epileptic encephalopathy, 681Feb 12, 2020
Developmental and epileptic encephalopathy, 691Sep 26, 2019
Developmental and epileptic encephalopathy, 761Feb 12, 2020
Developmental and epileptic encephalopathy, 771Jan 13, 2021
Developmental delay with short stature, dysmorphic features, and sparse hair1Jan 13, 2021
Diamond-Blackfan anemia 71Jan 13, 2021
Diarrhea 5, with tufting enteropathy, congenital1Sep 4, 2018
Diarrhea 8, secretory sodium, congenital1Sep 4, 2018
Dilated cardiomyopathy 1A1Feb 12, 2020
Dilated cardiomyopathy 1S2Sep 26, 2019
Dilated cardiomyopathy with woolly hair and keratoderma2Feb 12, 2020
Distal arthrogryposis type 1B1Sep 4, 2018
Distal arthrogryposis type 5D2Feb 12, 2020
Distal hereditary motor neuronopathy 2D1Feb 12, 2020
Dubin-Johnson syndrome1Sep 4, 2018
ELN-related disorder1Sep 4, 2018
Early infantile epileptic encephalopathy 111Jan 13, 2021
Early infantile epileptic encephalopathy 181Sep 4, 2018
Early infantile epileptic encephalopathy 21Sep 26, 2019
Early infantile epileptic encephalopathy 71Sep 26, 2019
Early infantile epileptic encephalopathy 81Sep 4, 2018
Early myoclonic encephalopathy1Sep 26, 2019
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal1Feb 12, 2020
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1Jan 13, 2021
Ehlers-Danlos syndrome, classic type1Sep 26, 2019
Ehlers-Danlos syndrome, musculocontractural type1Feb 12, 2020
Ehlers-Danlos syndrome, musculocontractural type 21Sep 4, 2018
Eichsfeld type congenital muscular dystrophy2Sep 4, 2018
Elliptocytosis 21Feb 12, 2020
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 81Feb 12, 2020
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum2Sep 26, 2019
Epidermolysis bullosa simplex, autosomal recessive 21Jan 13, 2021
Epilepsy, childhood absence 61Feb 12, 2020
Epilepsy, familial focal, with variable foci 24Jan 13, 2021
Epilepsy, familial focal, with variable foci 41Feb 12, 2020
Epilepsy, familial temporal lobe, 71Jan 13, 2021
Epilepsy, focal, with speech disorder and with or without mental retardation1Sep 26, 2019
Epilepsy, hearing loss, and mental retardation syndrome1Jan 13, 2021
Epilepsy, idiopathic generalized 101Sep 4, 2018
Epilepsy, nocturnal frontal lobe, type 41Sep 26, 2019
Epilepsy, progressive myoclonic 31Sep 26, 2019
Epilepsy, progressive myoclonic 4, with or without renal failure1Jan 13, 2021
Epileptic encephalopathy1Sep 4, 2018
Epileptic encephalopathy, early infantile, 191Sep 26, 2019
Epileptic encephalopathy, early infantile, 252Sep 26, 2019
Epileptic encephalopathy, early infantile, 262Feb 12, 2020
Epileptic encephalopathy, early infantile, 272Feb 12, 2020
Epileptic encephalopathy, early infantile, 322Sep 26, 2019
Ethylmalonic encephalopathy1Sep 26, 2019
Exudative vitreoretinopathy 11Sep 26, 2019
Exudative vitreoretinopathy 71Jan 13, 2021
Factor v and factor viii, combined deficiency of, 21Sep 26, 2019
Failure of tooth eruption, primary1Sep 4, 2018
Familial adenomatous polyposis 11Feb 12, 2020
Familial hemophagocytic lymphohistiocytosis 22Jan 13, 2021
Familial hemophagocytic lymphohistiocytosis 41Sep 26, 2019
Familial hypercholesterolemia 15Feb 12, 2020
Familial mediterranean fever, autosomal dominant3Jan 13, 2021
Familial platelet disorder with associated myeloid malignancy1Sep 26, 2019
Fanconi anemia, complementation group D14Feb 12, 2020
Fanconi anemia, complementation group G1Jan 13, 2021
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1Feb 12, 2020
Fetal hemoglobin quantitative trait locus 11Sep 4, 2018
Finnish congenital nephrotic syndrome1Sep 26, 2019
Focal dermal hypoplasia1Feb 12, 2020
Frank-Ter Haar syndrome1Sep 26, 2019
Fraser syndrome 12Jan 13, 2021
Frontometaphyseal dysplasia 21Sep 26, 2019
Fructose-biphosphatase deficiency1Jan 13, 2021
GLI3-related postaxial polydactyly1Sep 26, 2019
GM3 synthase deficiency1Feb 12, 2020
GNE myopathy1Feb 12, 2020
Galactosylceramide beta-galactosidase deficiency1Sep 4, 2018
Gaze palsy, familial horizontal, with progressive scoliosis 11Sep 4, 2018
Generalized epilepsy with febrile seizures plus, type 11Sep 26, 2019
Geroderma osteodysplastica1Sep 26, 2019
Ghosal hematodiaphyseal dysplasia1Jan 13, 2021
Glanzmann thrombasthenia1Sep 26, 2019
Glaucoma 3, primary congenital, A2Sep 26, 2019
Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency1Sep 26, 2019
Glucocorticoid deficiency with achalasia2Sep 26, 2019
Glucose-6-phosphate transport defect2Jan 13, 2021
Glutaric aciduria, type 11Jan 13, 2021
Gluthathione synthetase deficiency1Sep 26, 2019
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2Jan 13, 2021
Glycogen storage disease type III2Feb 12, 2020
Glycogen storage disease, type II4Jan 13, 2021
Glycogen storage disease, type IV1Sep 4, 2018
Gordon Holmes syndrome1Sep 26, 2019
Grebe syndrome1Feb 12, 2020
Griscelli syndrome type 11Sep 4, 2018
Griscelli syndrome type 21Sep 26, 2019
Griscelli syndrome type 31Jan 13, 2021
Growth delay due to insulin-like growth factor I resistance1Sep 26, 2019
Harel-Yoon syndrome1Sep 4, 2018
Heart and brain malformation syndrome1Sep 4, 2018
Helsmoortel-Van der Aa Syndrome2Feb 12, 2020
Hemochromatosis type 2A1Sep 26, 2019
Hemophagocytic lymphohistiocytosis, familial, 51Sep 26, 2019
Hereditary factor VIII deficiency disease1Sep 4, 2018
Hereditary fructosuria2Jan 13, 2021
Hereditary insensitivity to pain with anhidrosis1Sep 26, 2019
Hereditary sensory and autonomic neuropathy type IIB1Sep 26, 2019
Hereditary spastic paraplegia 3A1Sep 26, 2019
Hermansky-Pudlak syndrome 51Sep 26, 2019
Homocystinuria due to methylene tetrahydrofolate reductase deficiency2Feb 12, 2020
Human HOXA1 syndromes1Sep 26, 2019
Hyaline fibromatosis syndrome1Jan 13, 2021
Hydrocephalus, congenital, 2, with or without brain or eye anomalies3Jan 13, 2021
Hydrops, lactic acidosis, and sideroblastic anemia1Sep 4, 2018
Hyperglycinuria1Sep 4, 2018
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive1Sep 26, 2019
Hyperphenylalaninemia, mild, non-bh4-deficient1Sep 26, 2019
Hyperphosphatasia with mental retardation syndrome 41Sep 26, 2019
Hypocalciuric hypercalcemia, familial, type III1Jan 13, 2021
Hypoglycemia, neonatal, simulating foetopathia diabetica1Jan 13, 2021
Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities1Sep 26, 2019
Hypoparathyroidism-retardation-dysmorphism syndrome1Feb 12, 2020
Hypotonia, ataxia, and delayed development syndrome2Jan 13, 2021
Hypotonia, infantile, with psychomotor retardation and characteristic facies 13Sep 26, 2019
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22Jan 13, 2021
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Jan 13, 2021
Hypotrichosis 81Sep 4, 2018
INSR-related disorder1Sep 26, 2019
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY1Jan 13, 2021
ISPD-Related Disorder1Sep 26, 2019
Idiopathic nephrotic syndrome1Jan 13, 2021
Imerslund-Gräsbeck syndrome1Sep 26, 2019
Immunodeficiency 291Sep 26, 2019
Immunodeficiency 301Jan 13, 2021
Immunodeficiency 461Sep 26, 2019
Immunodeficiency 571Sep 26, 2019
Immunodeficiency-centromeric instability-facial anomalies syndrome 11Sep 26, 2019
Infantile GM1 gangliosidosis1Sep 26, 2019
Infantile cerebellar-retinal degeneration1Sep 4, 2018
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1Feb 12, 2020
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Feb 12, 2020
Intellectual disability, autosomal dominant 451Sep 26, 2019
Intellectual disability, autosomal dominant 501Sep 26, 2019
Intellectual disability, autosomal dominant 521Sep 26, 2019
Iodotyrosyl coupling defect1Feb 12, 2020
Isolated sulfite oxidase deficiency1Sep 26, 2019
Jaberi-Elahi syndrome1Sep 26, 2019
Johanson-Blizzard syndrome1Sep 26, 2019
Joubert syndrome 12Sep 26, 2019
Joubert syndrome 131Jan 13, 2021
Joubert syndrome 173Sep 26, 2019
Joubert syndrome 211Sep 26, 2019
Joubert syndrome 231Sep 26, 2019
Joubert syndrome 262Feb 12, 2020
Joubert syndrome 52Jan 13, 2021
Joubert syndrome 93Sep 26, 2019
Junctional epidermolysis bullosa gravis of Herlitz1Sep 4, 2018
Junctional epidermolysis bullosa, non-Herlitz type1Sep 4, 2018
Juvenile arthritis due to defect in LACC12Jan 13, 2021
Juvenile retinoschisis1Jan 13, 2021
KBG syndrome2Jan 13, 2021
KCNQ2-Related Disorders1Apr 11, 2018
Kabuki syndrome 11Feb 12, 2020
Kallmann syndrome 32Jan 13, 2021
Kartagener syndrome1Jan 13, 2021
Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism2Sep 26, 2019
Knobloch syndrome 11Sep 26, 2019
Koolen-de Vries syndrome1Jan 13, 2021
Kostmann syndrome1Sep 26, 2019
LTBP2-related Disorder1Sep 4, 2018
Lamb-shaffer syndrome1Sep 4, 2018
Leber congenital amaurosis 11Sep 26, 2019
Leber congenital amaurosis 61Sep 26, 2019
Lenz-Majewski hyperostosis syndrome1Sep 26, 2019
Lethal Kniest-like syndrome1Sep 26, 2019
Lethal congenital contracture syndrome 21Sep 26, 2019
Leukodystrophy, hypomyelinating, 101Sep 26, 2019
Leukodystrophy, hypomyelinating, 151Sep 26, 2019
Leukoencephalopathy with vanishing white matter2Sep 26, 2019
Li-Fraumeni syndrome 11Feb 12, 2020
Limb-girdle muscular dystrophy, type 2J2Sep 26, 2019
Limb-girdle muscular dystrophy, type 2S2Sep 26, 2019
Limb-girdle muscular dystrophy-dystroglycanopathy, type C52Sep 26, 2019
Lipase deficiency, combined1Jan 13, 2021
Lissencephaly 34Jan 13, 2021
Lissencephaly 41Sep 26, 2019
Lissencephaly 9 with complex brainstem malformation1Feb 12, 2020
Loeys-Dietz syndrome 21Sep 4, 2018
Long QT syndrome 12Jan 13, 2021
MAP3K7-related disorder1Sep 26, 2019
MSH2-related disorder1Sep 4, 2018
Macrocephaly, acquired, with impaired intellectual development1Sep 26, 2019
Maple syrup urine disease3Jan 13, 2021
Maple syrup urine disease, type 32Sep 26, 2019
Marfan syndrome2Feb 12, 2020
Mast cell disease, systemic1Sep 4, 2018
Maturity-onset diabetes of the young type 82Feb 12, 2020
Meckel syndrome 121Jan 13, 2021
Meckel syndrome, type 111Sep 4, 2018
Medium-chain acyl-coenzyme A dehydrogenase deficiency1Jan 13, 2021
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1Jan 13, 2021
Mental retardation and microcephaly with pontine and cerebellar hypoplasia1Sep 4, 2018
Mental retardation, X-linked 1011Sep 26, 2019
Mental retardation, X-linked 121Sep 4, 2018
Mental retardation, X-linked 931Sep 26, 2019
Mental retardation, X-linked 991Sep 4, 2018
Mental retardation, X-linked, syndromic, wu type1Sep 26, 2019
Mental retardation, autosomal dominant 131Sep 26, 2019
Mental retardation, autosomal dominant 141Jan 13, 2021
Mental retardation, autosomal dominant 192Sep 26, 2019
Mental retardation, autosomal dominant 231Sep 26, 2019
Mental retardation, autosomal dominant 241Sep 4, 2018
Mental retardation, autosomal dominant 321Feb 12, 2020
Mental retardation, autosomal dominant 341Sep 4, 2018
Mental retardation, autosomal dominant 391Sep 4, 2018
Mental retardation, autosomal dominant 401Sep 4, 2018
Mental retardation, autosomal dominant 51Sep 26, 2019
Mental retardation, autosomal dominant 61Jan 13, 2021
Mental retardation, autosomal recessive 131Sep 26, 2019
Mental retardation, autosomal recessive 151Sep 26, 2019
Mental retardation, autosomal recessive 271Sep 26, 2019
Mental retardation, autosomal recessive 32Feb 12, 2020
Mental retardation, autosomal recessive 361Sep 26, 2019
Mental retardation, autosomal recessive 51Feb 12, 2020
Mental retardation, autosomal recessive 551Sep 26, 2019
Mental retardation, autosomal recessive 71Jan 13, 2021
Mental retardation, syndromic, Claes-Jensen type, X-linked1Sep 4, 2018
Merosin deficient congenital muscular dystrophy3Sep 26, 2019
Metachromatic leukodystrophy1Jan 13, 2021
Metaphyseal chondrodysplasia, Schmid type1Sep 26, 2019
Metaphyseal chondrodysplasia, Spahr type1Sep 4, 2018
Methylmalonic aciduria and homocystinuria type cblF1Sep 26, 2019
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2Jan 13, 2021
Microcephalic osteodysplastic primordial dwarfism type II1Sep 26, 2019
Microcephaly 17, primary, autosomal recessive3Sep 26, 2019
Microcephaly and chorioretinopathy, autosomal recessive, 11Jan 13, 2021
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation2Jan 13, 2021
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome1Sep 26, 2019
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy1Feb 12, 2020
Microphthalmia, isolated 21Jan 13, 2021
Microphthalmia, syndromic 121Sep 26, 2019
Microphthalmia/coloboma and skeletal dysplasia syndrome1Sep 26, 2019
Mitochondrial DNA depletion syndrome 1 (MNGIE type)1Feb 12, 2020
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1Sep 26, 2019
Mitochondrial DNA-depletion syndrome 3, hepatocerebral1Sep 26, 2019
Mitochondrial complex 1 deficiency, nuclear type 161Sep 26, 2019
Mitochondrial complex 1 deficiency, nuclear type 21Feb 12, 2020
Mitochondrial complex 1 deficiency, nuclear type 231Sep 26, 2019
Mitochondrial complex 1 deficiency, nuclear type 41Sep 26, 2019
Mitochondrial complex 1 deficiency, nuclear type 52Sep 26, 2019
Mitochondrial complex 1 deficiency, nuclear type 91Sep 26, 2019
Mitochondrial complex I deficiency, nuclear type 11Sep 26, 2019
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency1Apr 11, 2018
Monocarboxylate transporter 1 deficiency1Sep 26, 2019
Mowat-Wilson syndrome1Sep 26, 2019
Mucolipidosis type IV1Sep 26, 2019
Mucopolysaccharidosis type 62Sep 26, 2019
Mucopolysaccharidosis type 72Jan 13, 2021
Mucopolysaccharidosis, MPS-IV-A3Feb 12, 2020
Muenke syndrome1Jan 13, 2021
Multiple acyl-CoA dehydrogenase deficiency2Sep 26, 2019
Multiple congenital anomalies-hypotonia-seizures syndrome 22Feb 12, 2020
Multiple endocrine neoplasia, type 41Sep 26, 2019
Multiple exostoses type 11Sep 26, 2019
Multiple mitochondrial dysfunctions syndrome 41Sep 26, 2019
Multiple sulfatase deficiency1Sep 4, 2018
Muscular dystrophy, limb-girdle, autosomal recessive 231Sep 26, 2019
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11Sep 26, 2019
Myoclonic-atonic epilepsy1Feb 12, 2020
Myopathy with extrapyramidal signs1Sep 26, 2019
Myopathy, centronuclear, 41Sep 26, 2019
Myopathy, centronuclear, 51Sep 26, 2019
Myopathy, congenital, with neuropathy and deafness1Sep 26, 2019
Myopathy, early-onset, with fatal cardiomyopathy1Jan 13, 2021
Nail disorder, nonsyndromic congenital, 11Jan 13, 2021
Navajo neurohepatopathy1Jan 13, 2021
Nemaline myopathy 21Sep 26, 2019
Nemaline myopathy 31Feb 12, 2020
Nemaline myopathy 71Sep 26, 2019
Nephrogenic diabetes insipidus, autosomal1Feb 12, 2020
Nephronophthisis 141Sep 26, 2019
Nephronophthisis 152Jan 13, 2021
Nephronophthisis 201Sep 26, 2019
Nephronophthisis 31Sep 26, 2019
Nephrotic syndrome, type 32Sep 26, 2019
Nephrotic syndrome, type 91Sep 26, 2019
Neurodegeneration with brain iron accumulation 2b1Sep 26, 2019
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Sep 26, 2019
Neurodevelopmental disorder with hypotonia, seizures, and absent language1Feb 12, 2020
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies1Sep 4, 2018
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy1Feb 12, 2020
Neurodevelopmental disorder with midbrain and hindbrain malformations1Sep 26, 2019
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA1Feb 12, 2020
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures1Sep 4, 2018
Neurofibromatosis, type 14Feb 12, 2020
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset1Sep 26, 2019
Neuronal ceroid lipofuscinosis 52Feb 12, 2020
Neuronal ceroid lipofuscinosis 61Sep 26, 2019
Neuronal ceroid lipofuscinosis 82Sep 26, 2019
Neutropenia, severe congenital, 8, autosomal dominant1Jan 13, 2021
Nicolaides-Baraitser syndrome1Jan 13, 2021
Niemann-Pick disease type C11Jan 13, 2021
Niemann-Pick disease, type A1Sep 26, 2019
Nijmegen breakage syndrome-like disorder1Sep 26, 2019
Non-acquired combined pituitary hormone deficiency with spine abnormalities1Sep 4, 2018
Non-ketotic hyperglycinemia2Sep 26, 2019
Noonan syndrome 15Jan 13, 2021
Noonan syndrome 101Sep 26, 2019
Noonan syndrome 41Sep 4, 2018
Noonan syndrome 51Feb 12, 2020
Noonan syndrome 82Feb 12, 2020
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia2Feb 12, 2020
Norman-Roberts syndrome1Sep 26, 2019
Obesity2Sep 26, 2019
Occult macular dystrophy1Jan 13, 2021
Oculocutaneous albinism type 1B1Sep 26, 2019
Oculofaciocardiodental syndrome1Feb 12, 2020
Orofaciodigital syndrome 181Sep 4, 2018
Orofaciodigital syndrome I1Sep 26, 2019
Orofaciodigital syndrome V2Jan 13, 2021
Orofaciodigital syndrome xiv2Sep 26, 2019
Osteogenesis imperfecta type 82Jan 13, 2021
Osteogenesis imperfecta, type xv1Sep 4, 2018
Osteopetrosis with renal tubular acidosis1Sep 26, 2019
Otofaciocervical syndrome 21Feb 12, 2020
PARS2-related disorder1Sep 4, 2018
PTPN11-related disorder2Sep 4, 2018
Pancreatic agenesis 21Sep 26, 2019
Parkinson disease 6, autosomal recessive early-onset1Sep 26, 2019
Parkinson disease 71Feb 12, 2020
Peeling skin syndrome 21Feb 12, 2020
Peeling skin syndrome 61Sep 4, 2018
Pendred syndrome2Feb 12, 2020
Periventricular nodular heterotopia 11Sep 26, 2019
Peroxisomal fatty acyl-coa reductase 1 disorder1Sep 26, 2019
Peroxisome biogenesis disorder 1A (Zellweger)1Sep 26, 2019
Peroxisome biogenesis disorder 2A (Zellweger)1Sep 4, 2018
Peroxisome biogenesis disorder 2B1Sep 4, 2018
Phosphate transport defect1Sep 26, 2019
Phosphoglycerate kinase 1 deficiency1Sep 26, 2019
Pitt-Hopkins syndrome1Jan 13, 2021
Pitt-Hopkins-like syndrome 11Sep 26, 2019
Platelet-type bleeding disorder 161Feb 12, 2020
Poikiloderma with neutropenia1Sep 26, 2019
Polyarteritis nodosa, childhoood-onset1Sep 26, 2019
Polycystic kidney disease 22Jan 13, 2021
Polycystic kidney disease 41Jan 13, 2021
Polycystic kidney disease, adult type6Jan 13, 2021
Polyglandular autoimmune syndrome, type 12Jan 13, 2021
Polyglucosan body myopathy 1 with or without immunodeficiency2Jan 13, 2021
Polyhydramnios, megalencephaly, and symptomatic epilepsy1Sep 26, 2019
Polymicrogyria with optic nerve hypoplasia1Sep 4, 2018
Polymicrogyria, asymmetric1Sep 26, 2019
Pontocerebellar hypoplasia, type 1d1Jan 13, 2021
Porencephaly 21Feb 12, 2020
Precocious puberty, central, 11Sep 26, 2019
Primary autosomal recessive microcephaly 11Jan 13, 2021
Primary autosomal recessive microcephaly 101Sep 26, 2019
Primary autosomal recessive microcephaly 42Jan 13, 2021
Primary autosomal recessive microcephaly 56Jan 13, 2021
Primary autosomal recessive microcephaly 91Sep 26, 2019
Primary hyperoxaluria, type I1Jan 13, 2021
Primary hypomagnesemia1Sep 4, 2018
Primary pulmonary hypertension 41Sep 4, 2018
Progressive bulbar palsy of childhood1Sep 26, 2019
Progressive familial intrahepatic cholestasis 23Sep 26, 2019
Progressive familial intrahepatic cholestasis 31Apr 11, 2018
Progressive familial intrahepatic cholestasis 41Sep 26, 2019
Progressive myositis ossificans1Sep 26, 2019
Progressive pseudorheumatoid dysplasia2Feb 12, 2020
Progressive sclerosing poliodystrophy1Sep 26, 2019
Propionic acidemia3Sep 26, 2019
Pseudo-TORCH syndrome 11Sep 26, 2019
Pseudo-TORCH syndrome 21Jan 13, 2021
Pseudoxanthoma elasticum1Feb 12, 2020
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1Sep 26, 2019
Pyruvate dehydrogenase E1-alpha deficiency2Feb 12, 2020
Question mark ears, isolated1Sep 4, 2018
Radial aplasia-thrombocytopenia syndrome1Jan 13, 2021
Renal carnitine transport defect1Sep 26, 2019
Renal hypouricemia 21Sep 26, 2019
Reticular dysgenesis1Jan 13, 2021
Retinitis pigmentosa 11Sep 26, 2019
Retinitis pigmentosa 141Feb 12, 2020
Retinitis pigmentosa 251Jan 13, 2021
Retinitis pigmentosa 541Jan 13, 2021
Retinitis pigmentosa 591Sep 26, 2019
Rett syndrome1Sep 26, 2019
Roberts-SC phocomelia syndrome1Sep 26, 2019
Robinow syndrome, autosomal dominant 31Sep 26, 2019
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked1Sep 4, 2018
Rubinstein-Taybi syndrome 11Sep 4, 2018
SLC25A42-related mitochondrial disorder1Sep 26, 2019
SLC39A8-CDG1Sep 26, 2019
Salla disease1Sep 26, 2019
Sandhoff disease3Jan 13, 2021
Schaaf-Yang syndrome1Jan 13, 2021
Seizures, benign familial infantile, 21Jan 13, 2021
Sengers syndrome1Sep 26, 2019
Senior-Loken syndrome 81Sep 26, 2019
Short-rib thoracic dysplasia 14 with polydactyly1Jan 13, 2021
Short-rib thoracic dysplasia 15 with polydactyly1Sep 26, 2019
Sialuria1Jan 13, 2021
Skin/hair/eye pigmentation, variation in, 51Feb 12, 2020
Smith-Lemli-Opitz syndrome3Jan 13, 2021
Smith-Magenis syndrome1Sep 26, 2019
Sotos syndrome 11Sep 26, 2019
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1Sep 4, 2018
Spastic paraplegia 28, autosomal recessive1Sep 26, 2019
Spastic paraplegia 4, autosomal dominant1Sep 26, 2019
Spastic paraplegia 56, autosomal recessive1Sep 4, 2018
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly1Sep 26, 2019
Spherocytosis type 31Sep 26, 2019
Sphingolipid activator protein 1 deficiency1Sep 26, 2019
Spinal muscular atrophy, distal, autosomal recessive, 11Sep 26, 2019
Spinocerebellar ataxia, autosomal recessive 152Sep 26, 2019
Spinocerebellar ataxia, autosomal recessive 171Sep 26, 2019
Spinocerebellar ataxia, autosomal recessive 181Sep 26, 2019
Spinocerebellar ataxia, autosomal recessive 202Sep 26, 2019
Spinocerebellar ataxia, autosomal recessive 211Sep 26, 2019
Split-hand/foot malformation 61Apr 11, 2018
Spondylocarpotarsal synostosis syndrome1Feb 12, 2020
Spondyloepimetaphyseal dysplasia, aggrecan type1Sep 26, 2019
Spondyloepiphyseal dysplasia with congenital joint dislocations1Feb 12, 2020
Spondylometaphyseal dysplasia, Kozlowski type1Jan 13, 2021
Spondyloocular syndrome, autosomal recessive1Sep 26, 2019
Spondyloperipheral dysplasia-short ulna syndrome1Sep 26, 2019
Striatonigral degeneration infantile1Sep 26, 2019
Succinyl-CoA acetoacetate transferase deficiency2Feb 12, 2020
Surfactant metabolism dysfunction, pulmonary, 31Jan 13, 2021
Syndromic X-linked intellectual disability Snyder type1Sep 26, 2019
Syndromic X-linked intellectual disability Turner type1Feb 12, 2020
TTN-Related Disorders1Sep 26, 2019
TWIST1-related disorder1Sep 26, 2019
Tatton-Brown-rahman syndrome1Feb 12, 2020
Tay-Sachs disease, variant AB1Sep 26, 2019
Temtamy syndrome2Sep 26, 2019
Thauvin-Robinet-Faivre syndrome1Sep 26, 2019
Three M syndrome 12Feb 12, 2020
Three M syndrome 31Jan 13, 2021
Thrombocythemia 11Sep 26, 2019
Thrombocytopenia 22Jan 13, 2021
Thrombocytopenia, anemia, and myelofibrosis2Jan 13, 2021
Thrombophilia, X-linked, due to factor IX defect1Feb 12, 2020
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive1Sep 26, 2019
Tibial muscular dystrophy2Sep 4, 2018
Treacher Collins syndrome 11Jan 13, 2021
Tricho-dento-osseous syndrome1Sep 26, 2019
Trichohepatoenteric syndrome 12Sep 26, 2019
Trichohepatoenteric syndrome 22Feb 12, 2020
Trichohepatoneurodevelopmental syndrome1Jan 13, 2021
Tuberous sclerosis 11Feb 12, 2020
Tuberous sclerosis 21Feb 12, 2020
Turcot syndrome3Feb 12, 2020
Tyrosinase-negative oculocutaneous albinism1Sep 26, 2019
Tyrosinase-positive oculocutaneous albinism1Sep 26, 2019
Ullrich congenital muscular dystrophy 11Sep 26, 2019
Ullrich congenital muscular dystrophy 21Sep 26, 2019
Usher syndrome type 12Feb 12, 2020
Usher syndrome type 1D1Sep 26, 2019
Usher syndrome, type 1G1Sep 26, 2019
Usher syndrome, type 2A1Sep 26, 2019
Usher syndrome, type 2C1Sep 26, 2019
Uterine leiomyoma1Sep 26, 2019
Van den Ende-Gupta syndrome1Jan 13, 2021
Ventricular tachycardia, catecholaminergic polymorphic, 31Feb 12, 2020
Verheij syndrome1Sep 26, 2019
Very long chain acyl-CoA dehydrogenase deficiency5Jan 13, 2021
Vici syndrome1Feb 12, 2020
Vitamin B12-responsive methylmalonic acidemia type cblA1Feb 12, 2020
Vitamin D-dependent rickets type II with alopecia1Jan 13, 2021
Vitamin D-dependent rickets, type 12Feb 12, 2020
Von Hippel-Lindau syndrome1Feb 12, 2020
Waardenburg syndrome type 11Sep 26, 2019
Warburg micro syndrome 12Sep 26, 2019
Warsaw breakage syndrome1Sep 26, 2019
Weiss-kruszka syndrome1Feb 12, 2020
Werner syndrome1Jan 13, 2021
White-sutton syndrome1Sep 26, 2019
Wilson disease3Jan 13, 2021
Wolcott-Rallison dysplasia1Jan 13, 2021
X-linked DMD-related dystrophinopathy1Sep 26, 2019
X-linked MED12-related disorder2Sep 26, 2019
X-linked chondrodysplasia punctata 11Feb 12, 2020
X-linked intellectual disability-hypotonic face syndrome1Sep 4, 2018
Xeroderma pigmentosum, group C1Sep 26, 2019
Xia-Gibbs syndrome1Sep 26, 2019
Yunis-Varon syndrome1Sep 26, 2019
ZNF711-Related X-linked Mental Retardation1Sep 4, 2018
alpha Thalassemia1Sep 26, 2019
beta Thalassemia1Sep 26, 2019
von Willebrand disease type 11Sep 26, 2019
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