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Institute of Human Genetics Munich (Klinikum Rechts Der Isar, TU München), IHG-MRI-TUM

General information

Institute of Human Genetics Munich, IHG-MRI-TUM
Klinikum Rechts Der Isar, TU München
Munich
Germany - 81675

Organization ID: 500240

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 2012

Gene

GeneSubmissionsLast Updated
AARS13Dec 20, 2022
AARS26Jan 21, 2020
ABCA42Oct 19, 2023
ABCC81Jan 21, 2020
ABCC91Aug 10, 2020
ABCD11Dec 20, 2022
ABCD42Aug 10, 2020
ACADM2Jan 21, 2020
ACADVL2Dec 20, 2022
ACTA13Jan 21, 2020
ACTA21Aug 10, 2020
ACTB5Aug 10, 2020
ACTG12Jan 21, 2020
ACTG21Jan 21, 2020
ACVR11Jan 21, 2020
ADA23Aug 10, 2020
ADAMTS131Oct 19, 2023
ADAR3Dec 20, 2022
ADCY56Dec 20, 2022
ADPRS2Jan 21, 2020
ADSL1Jan 21, 2020
AFF31Aug 10, 2020
AFG2A4Dec 18, 2017
AFG2B7Aug 10, 2020
AFG3L22Jan 21, 2020
AGK2Dec 18, 2017
AGL2Aug 10, 2020
AGO11Aug 10, 2020
AGT1Jan 21, 2020
AHDC13Dec 20, 2022
AHI11Oct 19, 2023
AIPL11Oct 19, 2023
AKT31Jan 21, 2020
ALDH18A12Jan 21, 2020
ALDH7A11Oct 19, 2023
ALMS11Oct 19, 2023
ALS25Jan 21, 2020
AMPD21Dec 18, 2017
ANKRD118Oct 19, 2023
ANO102Aug 10, 2020
ANO34Oct 19, 2023
ANO55Oct 19, 2023
AP1G11Dec 20, 2022
AP4S11Dec 18, 2017
APC1Aug 10, 2020
APOB1Aug 10, 2020
APP1Oct 19, 2023
ARF11Dec 20, 2022
ARHGEF92Oct 19, 2023
ARID1B5Aug 10, 2020
ARID24Oct 19, 2023
ARSA6Dec 20, 2022
ARSL1Oct 19, 2023
ASTN21Oct 19, 2023
ASXL13Dec 20, 2022
ASXL36Oct 19, 2023
ATAD3A1Aug 10, 2020
ATL13Oct 19, 2023
ATM12Dec 20, 2022
ATP1A13Dec 10, 2014
ATP1A21Dec 20, 2022
ATP1A38Dec 20, 2022
ATP2A21Jan 21, 2020
ATP2B33Dec 10, 2014
ATP5MC31Aug 10, 2020
ATP5PO2Dec 20, 2022
ATP6V1A1Oct 19, 2023
ATP6V1E11Dec 18, 2017
ATP7A1Aug 10, 2020
ATP7B2Jan 21, 2020
ATP8A21Aug 10, 2020
ATXN7L3-AS11Aug 10, 2020
AUTS23Jan 21, 2020
B3GALNT21Dec 18, 2017
BBS12Jan 21, 2020
BBS102Aug 10, 2020
BBS122Dec 18, 2017
BBS71Dec 20, 2022
BCAP311Jan 21, 2020
BCL11B5Dec 20, 2022
BCL2L2-PABPN11Jan 21, 2020
BCOR2Oct 19, 2023
BCS1L1Dec 18, 2017
BFSP21Dec 20, 2022
BICD21Jan 21, 2020
BRAF4Dec 20, 2022
BRAT12Dec 20, 2022
BRCA12Dec 20, 2022
BRCA22Oct 19, 2023
BSCL21Dec 20, 2022
BTD2Jan 21, 2020
C11orf655Jan 21, 2020
C17orf1071Jan 21, 2020
C19orf124Oct 19, 2023
CA5A1Jan 28, 2020
CACNA1A6Oct 19, 2023
CACNA1E1Aug 10, 2020
CACNA1G1Dec 20, 2022
CACNA1S1Dec 20, 2022
CAD3Dec 18, 2017
CALM22Jan 21, 2020
CAMK2A1Dec 20, 2022
CAMK2B1Oct 19, 2023
CAMTA12Dec 20, 2022
CAPN32Oct 19, 2023
CAPN51Aug 10, 2020
CASD114Oct 19, 2023
CAST2Jan 21, 2020
CAV31Aug 10, 2020
CBL1Jan 21, 2020
CBLIF1Jan 21, 2020
CCDC1861Dec 20, 2022
CCDST3Dec 20, 2022
CCND21Dec 20, 2022
CCPG11Aug 10, 2020
CD40LG1Dec 20, 2022
CDAN12Jan 21, 2020
CDC421Dec 18, 2017
CDK131Aug 10, 2020
CDK81Aug 10, 2020
CDKL54Oct 19, 2023
CELF21Dec 20, 2022
CELF2-AS11Dec 20, 2022
CENPO1Dec 20, 2022
CEP2902Jan 21, 2020
CEP85L1Dec 20, 2022
CERS11Oct 19, 2023
CFAP3001Jan 21, 2020
CFAP4101Aug 10, 2020
CFTR2Jan 21, 2020
CFTR-AS11Jan 21, 2020
CHAMP11Jan 21, 2020
CHAT1Dec 20, 2022
CHD22Oct 19, 2023
CHD36Oct 19, 2023
CHD41Aug 10, 2020
CHD78Oct 19, 2023
CHD84Oct 19, 2023
CHRNE3Dec 20, 2022
CHRNG2Dec 20, 2022
CLASP11Oct 19, 2023
CLCN13Dec 20, 2022
CLCN22Jan 28, 2020
CLCN41Jan 21, 2020
CLCN52Jan 21, 2020
CLCN71Jan 21, 2020
CLDN111Dec 20, 2022
CLN32Jan 28, 2020
CLPB1Dec 20, 2022
CLTC1Oct 19, 2023
CNNM21Dec 18, 2017
CNOT12Dec 20, 2022
CNOT31Aug 10, 2020
COL11A11Dec 20, 2022
COL11A21Jan 21, 2020
COL13A11Dec 18, 2017
COL1A11Jan 21, 2020
COL1A21Jan 21, 2020
COL27A12Jan 21, 2020
COL2A14Oct 19, 2023
COL3A11Oct 19, 2023
COL4A18Oct 19, 2023
COL4A21Jan 21, 2020
COL4A331Oct 19, 2023
COL4A416Oct 19, 2023
COL4A551Oct 19, 2023
COL6A11Dec 20, 2022
COL6A31Jan 21, 2020
COL9A31Dec 18, 2017
COMP2Jan 21, 2020
COQ23Jan 21, 2020
COQ43Jan 21, 2020
COQ63Jan 21, 2020
COQ8A5Dec 20, 2022
COQ8B1Jan 21, 2020
COQ91Apr 21, 2015
COX102Jan 21, 2020
CPLANE12Aug 10, 2020
CPS11Dec 18, 2017
CPT21Aug 10, 2020
CRIPT1Aug 10, 2020
CRYAA1Jan 21, 2020
CSDE11Aug 10, 2020
CSF1R1Dec 20, 2022
CSNK2A11Aug 10, 2020
CSNK2B2Dec 20, 2022
CTCF2Aug 10, 2020
CTNNB14Oct 19, 2023
CTSF1Jan 21, 2020
CUL31Dec 20, 2022
CUL4B1Dec 20, 2022
CWF19L12Aug 10, 2020
CYFIP24Aug 10, 2020
CYP21A22Dec 18, 2017
CYP24A13Oct 19, 2023
CYP7B12Jan 21, 2020
DAAM21Dec 20, 2022
DCTN11Dec 20, 2022
DDC1Jan 21, 2020
DDC-AS11Jan 21, 2020
DDX231Dec 20, 2022
DDX3X5Dec 20, 2022
DDX61Dec 20, 2022
DENND111Dec 18, 2017
DEPDC51Dec 20, 2022
DES1Jan 21, 2020
DGKE1Jan 21, 2020
DGUOK2Dec 18, 2017
DGUOK-AS11Dec 18, 2017
DHCR242Jan 21, 2020
DHCR72Dec 18, 2017
DHDDS2Jan 21, 2020
DLG42Dec 20, 2022
DLL11Oct 19, 2023
DMD4Oct 19, 2023
DMP12Oct 20, 2017
DMXL21Aug 10, 2020
DNA21Jan 21, 2020
DNAAF4-CCPG11Aug 10, 2020
DNAH112Jan 21, 2020
DNAI12Jan 21, 2020
DNAJB61Oct 19, 2023
DNAJC211Jan 21, 2020
DNAJC301Aug 10, 2020
DNAJC61Aug 10, 2020
DNM1L3Oct 19, 2023
DNM21Oct 19, 2023
DNMT12Aug 10, 2020
DNMT3A1Dec 20, 2022
DOK71Aug 10, 2020
DONSON2Dec 18, 2017
DPAGT11Jan 21, 2020
DSP2Oct 19, 2023
DST1Dec 20, 2022
DUOX21Jan 21, 2020
DUSP292Jan 21, 2020
DVL11Jan 21, 2020
DYNC1H12Jan 21, 2020
DYNC2H12Jan 21, 2020
DYNLT2B1Jan 28, 2020
DYRK1A3Dec 20, 2022
DYSF3Dec 20, 2022
EARS22Dec 18, 2017
EBF32Oct 19, 2023
EBP1Jan 21, 2020
ECEL11Dec 18, 2017
ECHS19Dec 20, 2022
ECM12Dec 20, 2022
EDA2Dec 20, 2022
EEF1A21Oct 19, 2023
EFNB11Jan 21, 2020
EGR21Jan 21, 2020
EHMT12Oct 19, 2023
EIF2AK21Dec 20, 2022
EIF2AK31Jan 21, 2020
EIF2B22Jan 21, 2020
EIF2S31Dec 18, 2017
EIF3F1Oct 19, 2023
ELAC24Dec 18, 2017
ELP41Aug 10, 2020
ENG2Aug 10, 2020
ENPP16Jan 21, 2020
ENTPD53Jan 21, 2020
EPCAM1Dec 18, 2017
EPG53Dec 18, 2017
ERCC42Dec 20, 2022
ERCC82Oct 19, 2023
ERF1Aug 10, 2020
ERI11Aug 10, 2020
ETFDH1Dec 18, 2017
ETHE13Dec 18, 2017
ETV61Dec 20, 2022
EVC2Dec 18, 2017
EXOSC32Dec 20, 2022
EXOSC91Dec 20, 2022
EYA13Oct 19, 2023
F81Dec 18, 2017
FA2H7Oct 19, 2023
FAM83H1Dec 18, 2017
FANCA1Dec 18, 2017
FARS24Jan 28, 2020
FARSB5Jun 26, 2018
FAS1Oct 19, 2023
FBN110Oct 19, 2023
FBP11Dec 20, 2022
FBXL47Aug 10, 2020
FBXO113Aug 10, 2020
FBXO311Dec 20, 2022
FBXO72Dec 18, 2017
FBXW111Dec 20, 2022
FDXR2Dec 20, 2022
FGF141Aug 10, 2020
FGF235Oct 20, 2017
FGFR12Dec 20, 2022
FGFR21Jan 21, 2020
FGFR31Aug 10, 2020
FH2Dec 20, 2022
FHOD31Dec 20, 2022
FITM21Aug 10, 2020
FKBP141Jan 21, 2020
FKBP14-AS11Jan 21, 2020
FKRP3Dec 20, 2022
FLG3Dec 20, 2022
FLNA3Dec 20, 2022
FLNB3Dec 20, 2022
FOXF11Jan 28, 2020
FOXG17Oct 19, 2023
FOXL21Jan 21, 2020
FOXP11Jan 21, 2020
FOXP22Dec 20, 2022
FOXRED11Dec 18, 2017
FRRS1L1Dec 18, 2017
FTL1Dec 20, 2022
FUCA12Dec 18, 2017
FUS1Jan 21, 2020
G6PD1Jan 21, 2020
GAA1Dec 18, 2017
GABBR21Dec 20, 2022
GABRA12Dec 20, 2022
GABRA21Aug 10, 2020
GABRB21Dec 20, 2022
GABRB31Dec 20, 2022
GABRG21Dec 20, 2022
GAD11Dec 20, 2022
GATAD11Dec 18, 2017
GBA17Oct 19, 2023
GCDH3Aug 10, 2020
GCH14Oct 19, 2023
GCK1Dec 20, 2022
GDAP11Jan 21, 2020
GDF11Oct 19, 2023
GFAP1Dec 18, 2017
GFM12Jan 21, 2020
GH-LCR5Oct 19, 2023
GHR1Jan 21, 2020
GHRHR1Jan 21, 2020
GJA11Jan 21, 2020
GJB13Oct 19, 2023
GJB21Jan 21, 2020
GJC21Dec 20, 2022
GLB12Jan 21, 2020
GLDC2Jan 21, 2020
GLDN2Jan 21, 2020
GLMN1Aug 10, 2020
GLRA13Dec 20, 2022
GM2A1Oct 19, 2023
GMPPB1Aug 10, 2020
GNAI21Dec 20, 2022
GNAO14Oct 19, 2023
GNB13Oct 19, 2023
GNB41Dec 18, 2017
GNRHR2Jan 21, 2020
GRIA23Oct 19, 2023
GRIA31Oct 19, 2023
GRID21Dec 18, 2017
GRIN12Jan 21, 2020
GRIN2A3Dec 20, 2022
GRIN2B2Oct 19, 2023
GRN14Dec 20, 2022
GSN2Jan 21, 2020
GSTZ11Jan 21, 2020
GTPBP34Dec 18, 2017
GUCY2D1Dec 18, 2017
H4C31Aug 10, 2020
HBA-LCR1Dec 20, 2022
HBB1Aug 10, 2020
HECW22Jan 21, 2020
HERC21Jan 28, 2020
HEXA4Dec 20, 2022
HFE1Oct 19, 2023
HFE-AS11Oct 19, 2023
HIBCH2Dec 18, 2017
HIVEP21Oct 19, 2023
HK11Aug 10, 2020
HMBS1Aug 10, 2020
HMGCS22Dec 18, 2017
HNF1A1Oct 19, 2023
HNF1B1Oct 19, 2023
HNF4A1Oct 19, 2023
HNRNPH22Jan 21, 2020
HNRNPU1Aug 10, 2020
HNRNPUL2-BSCL21Dec 20, 2022
HPDL1Dec 20, 2022
HSD11B21Jan 21, 2020
HSD17B102Jan 28, 2020
HSD17B41Jan 28, 2020
HUWE12Jan 21, 2020
IDUA1Dec 20, 2022
IFIH11Jan 21, 2020
IFT1404Oct 19, 2023
IGHMBP21Jan 21, 2020
IGSF11Jan 21, 2020
IHH2Oct 19, 2023
IL1RAPL11Jan 28, 2020
IMPDH21Dec 20, 2022
INF23Dec 20, 2022
IQCG1Jan 21, 2020
IRAK41Dec 20, 2022
IRF2BPL1Aug 10, 2020
ISCA21Dec 18, 2017
ITGA81Dec 20, 2022
ITPA2Jan 21, 2020
ITPR11Jan 21, 2020
JAG11Oct 19, 2023
JARID21Dec 20, 2022
JMJD81Aug 10, 2020
KAT6A4Oct 19, 2023
KAT6B4Jan 21, 2020
KCNA21Dec 20, 2022
KCNB11Dec 20, 2022
KCNC11Dec 18, 2017
KCND31Aug 10, 2020
KCNH11Dec 18, 2017
KCNH23Oct 19, 2023
KCNJ11Dec 20, 2022
KCNQ25Oct 19, 2023
KCNT11Jan 21, 2020
KDM3B2Dec 20, 2022
KDM5B1Oct 19, 2023
KDM5C1Dec 20, 2022
KDM6A2Aug 10, 2020
KIAA05861Jan 21, 2020
KIF113Dec 20, 2022
KIF1A5Dec 20, 2022
KIF1B1Dec 20, 2022
KIF2A1Jan 21, 2020
KIF5C1Dec 18, 2017
KITLG2Oct 19, 2023
KLHL401Jan 21, 2020
KMT2A4Dec 20, 2022
KMT2B13Dec 20, 2022
KMT2C1Jan 21, 2020
KMT2D11Dec 20, 2022
KMT2E1Dec 20, 2022
KPTN1Jan 21, 2020
KRAS1Dec 20, 2022
KRIT12Dec 20, 2022
KRT161Dec 18, 2017
L1CAM1Aug 10, 2020
LAMA22Dec 20, 2022
LAMB32Dec 20, 2022
LAMP22Dec 20, 2022
LDHA1Aug 10, 2020
LDLR5Oct 19, 2023
LIFR1Dec 20, 2022
LIG41Dec 20, 2022
LINC010541Jan 21, 2020
LIPT22Jan 21, 2020
LIPT2-AS11Jan 21, 2020
LMNA2Dec 20, 2022
LMOD31Jan 21, 2020
LMX1B4Aug 10, 2020
LOC1019283711Jan 21, 2020
LOC1019297102Jan 21, 2020
LOC1027240585Oct 19, 2023
LOC1060990621Aug 10, 2020
LOC1066279816Oct 19, 2023
LOC1067808002Dec 18, 2017
LOC1071335101Aug 10, 2020
LOC1079822341Jan 21, 2020
LOC1082811771Dec 20, 2022
LOC1129975401Jan 21, 2020
LOC1217406382Oct 19, 2023
LOC1251774893Aug 10, 2020
LOC1268056611Dec 18, 2017
LOC1268061471Jan 21, 2020
LOC1268066581Jan 21, 2020
LOC1268066591Dec 20, 2022
LOC1268067981Jan 21, 2020
LOC1268068781Aug 10, 2020
LOC1268076191Oct 19, 2023
LOC1268595651Dec 18, 2017
LOC1268596901Jan 21, 2020
LOC1268598272Dec 18, 2017
LOC1268604031Dec 20, 2022
LOC1268609701Oct 19, 2023
LOC1268612421Aug 10, 2020
LOC1268615201Dec 18, 2017
LOC1268618561Jan 21, 2020
LOC1268618972Jan 21, 2020
LOC1268618982Oct 19, 2023
LOC1268622641Oct 19, 2023
LOC1268624231Aug 10, 2020
LOC1268624791Dec 20, 2022
LOC1268626111Jan 21, 2020
LOC1268627571Jan 21, 2020
LOC1293905141Jan 21, 2020
LOC1299312991Aug 10, 2020
LOC1299332721Dec 20, 2022
LOC1299350261Jan 21, 2020
LOC1299355941Oct 19, 2023
LOC1299357301Jan 21, 2020
LOC1299986031Aug 10, 2020
LOC1300031481Oct 19, 2023
LOC1300050231Dec 18, 2017
LOC1300569731Dec 20, 2022
LOC1300593942Dec 20, 2022
LOC1300600401Dec 20, 2022
LOC1300619401Jan 21, 2020
LOC1300627948Dec 2, 2014
LOC1300665731Dec 20, 2022
LOC1300688541Dec 18, 2017
LOX2Oct 19, 2023
LPIN11Jan 21, 2020
LRPPRC1Dec 18, 2017
LRRK21Dec 20, 2022
LSS1Oct 19, 2023
LTBP31Aug 10, 2020
MAFB1Jan 21, 2020
MAG3Aug 10, 2020
MANEAL1Aug 10, 2020
MAP2K12Dec 20, 2022
MAP2K21Jan 21, 2020
MAP4K41Dec 20, 2022
MAPK11Dec 20, 2022
MAPK8IP32Aug 10, 2020
MAPT6Jan 21, 2020
MARS13Dec 2, 2014
MASP11Jan 21, 2020
MBD51Dec 20, 2022
MBTPS12Aug 10, 2020
MC2R4Oct 20, 2017
MCM72Dec 20, 2022
MDH22Dec 20, 2022
MEA13Oct 19, 2023
MECP210Oct 19, 2023
MECR2Jan 21, 2020
MED121Dec 20, 2022
MED13L2Jan 21, 2020
MEF2C1Dec 18, 2017
MEFV3Oct 19, 2023
MEGF101Oct 19, 2023
MFF1Dec 20, 2022
MFF-DT29Oct 19, 2023
MFN24Dec 20, 2022
MFSD81Dec 18, 2017
MHRT2Jan 21, 2020
MINK11Jan 21, 2020
MIR103A21Jan 21, 2020
MIR103B21Jan 21, 2020
MMAB1Jan 21, 2020
MMACHC2Aug 10, 2020
MMP212Aug 10, 2020
MMUT4Dec 20, 2022
MOGS2Jan 21, 2020
MORC22Dec 20, 2022
MPC11Dec 18, 2017
MPDU11Dec 18, 2017
MPV171Jan 21, 2020
MPZ2Jan 21, 2020
MRAP3Oct 20, 2017
MRE114Aug 10, 2020
MSH61Aug 10, 2020
MSL32Aug 10, 2020
MTFMT1Dec 18, 2017
MTM12Jan 21, 2020
MTO19Dec 20, 2022
MTOR1Jan 21, 2020
MTRFR1Jan 28, 2020
MVK3Aug 10, 2020
MVP-DT2Oct 19, 2023
MYBPC38Oct 19, 2023
MYH78Oct 19, 2023
MYLK1Dec 18, 2017
MYO18B1Jan 21, 2020
MYO1E1Jan 21, 2020
MYOT1Jan 21, 2020
MYSM11Jan 21, 2020
NAA101Dec 18, 2017
NAA152Dec 20, 2022
NALCN3Oct 19, 2023
NANS1Jan 21, 2020
NARS12Oct 19, 2023
NARS22Dec 20, 2022
NCAPH22Dec 20, 2022
NDUFB111Dec 20, 2022
NDUFS11Dec 20, 2022
NDUFS43Dec 18, 2017
NDUFS82Dec 20, 2022
NDUFV12Aug 10, 2020
NEB6Jan 28, 2020
NECTIN41Jan 21, 2020
NEFL1Dec 20, 2022
NEXMIF1Aug 10, 2020
NF15Dec 20, 2022
NF21Dec 20, 2022
NFIA2Aug 10, 2020
NFIX2Oct 19, 2023
NFKB21Jan 21, 2020
NFU12Dec 18, 2017
NGLY13Dec 20, 2022
NKX2-13Oct 19, 2023
NONO1Jan 21, 2020
NOTCH31Dec 20, 2022
NPC13Jan 21, 2020
NPHP3-ACAD111Dec 18, 2017
NPHS12Jan 21, 2020
NPHS26Oct 19, 2023
NPR21Aug 10, 2020
NPRL22Dec 20, 2022
NPRL31Dec 20, 2022
NR0B125Oct 20, 2017
NR2F11Aug 10, 2020
NR2F1-AS11Aug 10, 2020
NSD14Oct 19, 2023
NSD21Dec 20, 2022
NUP2051Jan 21, 2020
NUP371Jan 21, 2020
NUS11Jan 21, 2020
OAT1Jan 21, 2020
OGT1Dec 20, 2022
OPA13Oct 19, 2023
OPA31Jan 21, 2020
OPTN1Dec 20, 2022
OSGEP1Aug 10, 2020
OSTM11Dec 18, 2017
PABPN11Jan 21, 2020
PACS11Oct 19, 2023
PAH1Dec 20, 2022
PAK11Jan 21, 2020
PANK25Dec 20, 2022
PAPSS21Aug 10, 2020
PAX24Oct 19, 2023
PAX61Aug 10, 2020
PAX71Aug 10, 2020
PBX12Jan 21, 2020
PC1Aug 10, 2020
PCDH122Dec 20, 2022
PCDH151Dec 20, 2022
PCK12Jan 21, 2020
PCSK12Jan 21, 2020
PCYT21Aug 10, 2020
PDE10A2Jan 21, 2020
PDHA112Oct 19, 2023
PDHX1Dec 18, 2017
PEPD2Jan 21, 2020
PEX13Dec 20, 2022
PEX63Oct 19, 2023
PHACTR11Oct 19, 2023
PHEX112Dec 20, 2022
PHEX-AS12Aug 31, 2017
PHF61Dec 18, 2017
PHKA22Jan 21, 2020
PIBF12Jan 21, 2020
PIEZO11Aug 10, 2020
PIGA2Jan 21, 2020
PIGB2Aug 10, 2020
PIGBOS11Aug 10, 2020
PIGG2Jan 21, 2020
PIGN7Dec 20, 2022
PIGP1Jan 21, 2020
PIK3CA2Dec 20, 2022
PIK3R21Aug 10, 2020
PINK11Jan 21, 2020
PINK1-AS1Jan 21, 2020
PKD14Dec 20, 2022
PKD1-AS11Jan 21, 2020
PKD2L2-DT1Jan 21, 2020
PKHD17Jan 21, 2020
PKP22Oct 19, 2023
PLA2G4A1Jan 21, 2020
PLA2G66Dec 20, 2022
PLAA1Jan 21, 2020
PLCB41Oct 19, 2023
PLCE11Jan 28, 2020
PLN1Dec 20, 2022
PLOD21Jan 21, 2020
PLP11Dec 18, 2017
PLS31Aug 10, 2020
PMFBP11Jan 21, 2020
PMPCB1Oct 19, 2023
PNKD1Oct 19, 2023
PNKP2Jan 21, 2020
PNPLA64Dec 20, 2022
POGZ2Dec 20, 2022
POLA11Jan 21, 2020
POLD11Dec 20, 2022
POLG10Dec 20, 2022
POLGARF10Dec 20, 2022
POLR1C6Jan 21, 2020
POLR3A6Oct 19, 2023
POMT12Dec 18, 2017
PORCN1Dec 20, 2022
POU3F21Aug 10, 2020
POU3F32Aug 10, 2020
PPM1D1Oct 19, 2023
PPP1R12A1Aug 10, 2020
PPP2CA3Aug 10, 2020
PPP2R1A2Oct 19, 2023
PPP2R5D3Oct 19, 2023
PQBP11Jan 21, 2020
PRKACA2Dec 10, 2014
PRKN4Aug 10, 2020
PRPS11Jan 21, 2020
PRRT22Oct 19, 2023
PRUNE12Aug 10, 2020
PSEN15Dec 20, 2022
PSMC31Dec 20, 2022
PSMD121Jan 21, 2020
PTCH12Jan 21, 2020
PTCHD1-AS43Aug 31, 2017
PTEN4Dec 20, 2022
PTPN1110Oct 19, 2023
PTPRA2Dec 20, 2022
PTRHD11Dec 20, 2022
PUF602Oct 19, 2023
PURA5Aug 10, 2020
PUS71Jan 21, 2020
PYCR11Aug 10, 2020
PYGM1Jan 21, 2020
RAB9B1Dec 18, 2017
RAD212Jan 21, 2020
RAF12Aug 10, 2020
RAI11Jan 21, 2020
RALA1Dec 20, 2022
RALGAPA15Sep 24, 2019
RARB1Dec 20, 2022
RARS23Jan 21, 2020
RBCK11Jan 21, 2020
RBP32Dec 20, 2022
RBP41Aug 10, 2020
REEP11Dec 20, 2022
REST1Jan 21, 2020
RFT11Jan 21, 2020
RHOBTB24Oct 19, 2023
RIF11Jan 21, 2020
RIT12Jan 21, 2020
RNASEH2A1Dec 20, 2022
RNASEH2B1Aug 10, 2020
RNF142Dec 20, 2022
RNF2131Dec 20, 2022
RNF2162Dec 20, 2022
RNU4ATAC1Oct 19, 2023
RORA1Jan 21, 2020
RORA-AS11Jan 21, 2020
RORB1Jan 21, 2020
RP11Oct 19, 2023
RP21Oct 19, 2023
RPL35A1Jan 21, 2020
RPL36A-HNRNPH22Jan 21, 2020
RPS6KA31Dec 20, 2022
RTN4IP11Jan 21, 2020
RYR112Oct 19, 2023
SACS2Jan 21, 2020
SALL12Aug 10, 2020
SATB12Dec 20, 2022
SATB24Oct 19, 2023
SBDS3Dec 20, 2022
SBF11Jan 21, 2020
SCAF41Dec 20, 2022
SCARB21Jan 21, 2020
SCLT12Dec 20, 2022
SCN1A10Oct 19, 2023
SCN1A-AS11Dec 18, 2017
SCN2A7Dec 20, 2022
SCN4A6Oct 19, 2023
SCN8A4Oct 19, 2023
SCN9A1Dec 18, 2017
SCO22Dec 20, 2022
SCP21Dec 18, 2017
SDR9C73Jan 21, 2020
SERAC12Dec 20, 2022
SET1Jan 21, 2020
SETBP12Oct 19, 2023
SETD1A2Dec 20, 2022
SETD1B1Aug 10, 2020
SETD21Aug 10, 2020
SETD53Aug 10, 2020
SETX3Jan 21, 2020
SFTA33Oct 19, 2023
SFXN42Dec 18, 2017
SGCA2Jan 21, 2020
SGCB1Dec 20, 2022
SGCE15Oct 19, 2023
SH3TC23Dec 20, 2022
SHANK31Jan 21, 2020
SHH1Aug 10, 2020
SI1Dec 20, 2022
SLC12A31Dec 18, 2017
SLC13A53Aug 10, 2020
SLC16A11Oct 19, 2023
SLC16A21Dec 20, 2022
SLC19A31Dec 18, 2017
SLC25A122Jan 28, 2020
SLC25A191Dec 18, 2017
SLC25A41Dec 18, 2017
SLC25A422Aug 10, 2020
SLC25A461Dec 18, 2017
SLC26A32Oct 19, 2023
SLC2A17Oct 19, 2023
SLC34A312Oct 20, 2017
SLC35C11Aug 10, 2020
SLC37A42Dec 18, 2017
SLC6A13Dec 20, 2022
SLC6A1-AS11Jan 21, 2020
SLC6A31Jan 21, 2020
SLC6A84Dec 20, 2022
SLC9A61Jan 21, 2020
SMAD42Dec 20, 2022
SMARCA21Dec 20, 2022
SMARCA43Jan 21, 2020
SMARCA52Dec 20, 2022
SMARCB11Dec 18, 2017
SMARCC21Jan 21, 2020
SMC1A2Jan 21, 2020
SNAP251Dec 20, 2022
SNCA1Dec 20, 2022
SNF87Dec 7, 2023
SOD12Dec 20, 2022
SON1Jan 21, 2020
SOS12Dec 29, 2023
SOX113Dec 20, 2022
SOX21Dec 20, 2022
SOX2-OT1Dec 20, 2022
SOX51Jan 21, 2020
SOX61Oct 19, 2023
SOX92Dec 18, 2017
SPAST8Oct 19, 2023
SPG116Oct 19, 2023
SPG76Dec 20, 2022
SPR2Dec 20, 2022
SPTBN11Dec 20, 2022
SPTBN23Dec 20, 2022
SPTLC11Dec 20, 2022
SRFBP12Oct 19, 2023
SSR41Aug 10, 2020
SSUH21Aug 10, 2020
STAG23Dec 20, 2022
STEEP11Aug 10, 2020
STUB14Oct 19, 2023
STX1B2Jan 21, 2020
STXBP15Oct 19, 2023
SUMF11Dec 18, 2017
SURF14Dec 20, 2022
SUZ121Aug 10, 2020
SYNE15Dec 20, 2022
SYNGAP14Oct 19, 2023
SYNGAP1-AS13Oct 19, 2023
TAB23Aug 10, 2020
TAFAZZIN2Jan 21, 2020
TAOK11Dec 20, 2022
TARDBP1Jan 21, 2020
TASP11Jun 5, 2019
TBC1D245Oct 19, 2023
TBC1D71Dec 18, 2017
TBC1D7-LOC1001303571Dec 18, 2017
TBCD6Aug 10, 2020
TBCK2Jan 21, 2020
TBK16Jan 28, 2020
TBL1XR13Dec 20, 2022
TBL1XR1-AS12Aug 10, 2020
TBR13Dec 20, 2022
TBX11Dec 18, 2017
TBX192Jan 21, 2020
TBX41Jan 21, 2020
TBX52Oct 19, 2023
TCF121Dec 20, 2022
TCF203Dec 20, 2022
TCF43Jan 21, 2020
TCOF11Jan 21, 2020
TFAP2A2Oct 19, 2023
TFAP2A-AS22Oct 19, 2023
TFE32Oct 19, 2023
TGFBI1Jan 21, 2020
TGFBR11Dec 18, 2017
TGFBR22Oct 19, 2023
TH2Jan 21, 2020
THAP13Dec 20, 2022
THOC21Jan 21, 2020
THOC64Oct 19, 2023
TIMM502Dec 18, 2017
TIMMDC11Jan 21, 2020
TLK21Jan 21, 2020
TMEM2401Dec 20, 2022
TMEM672Jan 21, 2020
TMEM703Dec 20, 2022
TNFRSF13B1Aug 10, 2020
TNNI33Dec 20, 2022
TNNT21Jan 21, 2020
TNR8Jul 26, 2019
TOR1A1Dec 20, 2022
TP631Jan 21, 2020
TPK12Dec 18, 2017
TPP12Dec 18, 2017
TRAPPC111Dec 18, 2017
TRIM141Jan 21, 2020
TRIM321Oct 19, 2023
TRIM541Jan 21, 2020
TRIM81Dec 20, 2022
TRIO3Oct 19, 2023
TRMU3Jan 21, 2020
TRPS12Dec 20, 2022
TRPV41Jan 21, 2020
TSC11Jan 21, 2020
TSC22Oct 19, 2023
TTC191Aug 10, 2020
TTN4Oct 19, 2023
TTN-AS14Oct 19, 2023
TTR1Oct 19, 2023
TUBA1A1Dec 18, 2017
TUBB2Aug 10, 2020
TUBB2A2Jan 21, 2020
TUBB31Dec 20, 2022
TUBB4A3Jan 21, 2020
TUFM1Dec 18, 2017
TWNK2Dec 18, 2017
TXNL4A9Dec 2, 2014
TYMP3Dec 20, 2022
UBA51Dec 18, 2017
UBE3B2Dec 18, 2017
UBR71Dec 20, 2022
UBTF1Aug 10, 2020
UCN1Jan 21, 2020
UMOD3Jan 21, 2020
UNC802Dec 20, 2022
UPF3B2Jan 21, 2020
UQCRFS13Mar 5, 2019
USP85Nov 18, 2014
USP9X2Oct 19, 2023
VARS13Aug 10, 2020
VARS24Dec 18, 2017
VCP2Oct 19, 2023
VPS13B2Jan 28, 2020
VPS13D2Jan 21, 2020
VPS165Dec 20, 2022
VWF1Aug 10, 2020
WARS26Aug 10, 2020
WARS2-AS11Aug 10, 2020
WDR454Aug 10, 2020
WDR733Dec 20, 2022
WFS13Jan 21, 2020
WNT10A1Jan 21, 2020
WRN1Jan 21, 2020
WT13Oct 19, 2023
WWOX1Jan 28, 2020
XPA1Oct 19, 2023
YARS21Dec 18, 2017
YWHAG2Oct 19, 2023
YY12Aug 10, 2020
YY1AP12Aug 10, 2020
ZBTB182Oct 19, 2023
ZC4H22Dec 20, 2022
ZDHHC242Jan 21, 2020
ZEB24Jan 21, 2020
ZMYM22Dec 20, 2022
ZMYND111Jan 28, 2020
ZNF1424Jan 21, 2020
ZNF1482Jan 21, 2020
ZNF6991Oct 19, 2023

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria1Dec 20, 2022
3-Methylglutaconic aciduria type 22Jan 21, 2020
3-Methylglutaconic aciduria type 31Jan 21, 2020
3-Methylglutaric aciduria1Dec 20, 2022
3-hydroxy-3-methylglutaryl-CoA synthase deficiency2Dec 18, 2017
3-methylglutaconic aciduria type 92Dec 18, 2017
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome2Dec 20, 2022
3MC syndrome 11Jan 21, 2020
8q24.3 microdeletion syndrome2Oct 19, 2023
AFF3-associated disorder1Aug 10, 2020
AGO1-associated disorder1Aug 10, 2020
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome3Dec 20, 2022
ALDH18A1-related de Barsy syndrome2Jan 21, 2020
ATP5G3-associated disorder1Aug 10, 2020
Abnormal facial shape1Dec 20, 2022
Abnormal pinna morphology1Dec 20, 2022
Abnormal thorax morphology1Dec 20, 2022
Abnormality of the kidney1Dec 20, 2022
Abnormality of the pulmonary veins1Dec 20, 2022
Achondrogenesis type II1Dec 18, 2017
Acromesomelic dysplasia 1, Maroteaux type1Aug 10, 2020
Acromicric dysplasia1Dec 18, 2017
Actin accumulation myopathy2Jan 21, 2020
Action myoclonus-renal failure syndrome1Jan 21, 2020
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins3Jan 21, 2020
Acute intermittent porphyria1Aug 10, 2020
Adenylosuccinate lyase deficiency1Jan 21, 2020
Adrenoleukodystrophy1Dec 20, 2022
Aicardi-Goutieres syndrome 21Aug 10, 2020
Aicardi-Goutieres syndrome 41Dec 20, 2022
Aicardi-Goutieres syndrome 63Dec 20, 2022
Aicardi-Goutieres syndrome 71Jan 21, 2020
Alagille syndrome due to a JAG1 point mutation1Oct 19, 2023
Aldosterone-producing adrenal cortex adenoma6Dec 10, 2014
Alexander disease1Dec 18, 2017
Allan-Herndon-Dudley syndrome1Dec 20, 2022
Alopecia-intellectual disability syndrome 41Oct 19, 2023
Alstrom syndrome1Oct 19, 2023
Alternating hemiplegia of childhood 22Jan 21, 2020
Alveolar capillary dysplasia with pulmonary venous misalignment1Jan 28, 2020
Alzheimer disease 35Dec 20, 2022
Alzheimer disease type 11Oct 19, 2023
Amblyopia1Dec 20, 2022
Amelogenesis imperfecta, hypocalcification type1Dec 18, 2017
Amyotrophic lateral sclerosis type 12Dec 20, 2022
Amyotrophic lateral sclerosis type 101Jan 21, 2020
Amyotrophic lateral sclerosis type 121Dec 20, 2022
Amyotrophic lateral sclerosis type 61Jan 21, 2020
Anemia1Dec 20, 2022
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Jan 21, 2020
Aniridia 11Aug 10, 2020
Anisometropia2Dec 20, 2022
Anophthalmia/microphthalmia-esophageal atresia syndrome1Dec 20, 2022
Aortic aneurysm, familial thoracic 102Oct 19, 2023
Aortic aneurysm, familial thoracic 71Dec 18, 2017
Apparent mineralocorticoid excess1Jan 21, 2020
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma1Jan 21, 2020
Arrhythmogenic right ventricular dysplasia 81Oct 19, 2023
Arrhythmogenic right ventricular dysplasia 92Oct 19, 2023
Arterial calcification, generalized, of infancy, 12Jan 21, 2020
Asphyxiating thoracic dystrophy 32Jan 21, 2020
Astigmatism4Dec 20, 2022
Ataxia-telangiectasia syndrome12Dec 20, 2022
Ataxia-telangiectasia-like disorder 14Aug 10, 2020
Atrial septal defect, ostium secundum type1Dec 20, 2022
Auditory neuropathy-optic atrophy syndrome2Dec 20, 2022
Auriculocondylar syndrome 21Oct 19, 2023
Autism1Dec 20, 2022
Autism spectrum disorder due to AUTS2 deficiency3Jan 21, 2020
Autism, susceptibility to, 53Dec 20, 2022
Autoimmune lymphoproliferative syndrome type 11Oct 19, 2023
Autosomal dominant Alport syndrome10Oct 19, 2023
Autosomal dominant Parkinson disease 11Dec 20, 2022
Autosomal dominant Parkinson disease 81Dec 20, 2022
Autosomal dominant Robinow syndrome 21Jan 21, 2020
Autosomal dominant centronuclear myopathy1Oct 19, 2023
Autosomal dominant cerebellar ataxia, deafness and narcolepsy2Aug 10, 2020
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1Jan 21, 2020
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1Jan 21, 2020
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome3Dec 20, 2022
Autosomal dominant hypophosphatemic rickets2Oct 20, 2017
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome4Oct 19, 2023
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1Oct 19, 2023
Autosomal dominant nonsyndromic hearing loss 201Jan 21, 2020
Autosomal dominant nonsyndromic hearing loss 691Oct 19, 2023
Autosomal dominant optic atrophy classic form3Oct 19, 2023
Autosomal recessive Alport syndrome23Oct 19, 2023
Autosomal recessive DOPA responsive dystonia2Jan 21, 2020
Autosomal recessive Parkinson disease 141Dec 20, 2022
Autosomal recessive ataxia due to ubiquinone deficiency5Dec 20, 2022
Autosomal recessive ataxia, Beauce type5Dec 20, 2022
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome2Jan 21, 2020
Autosomal recessive cutis laxa type 2B1Aug 10, 2020
Autosomal recessive cutis laxa type 2C1Dec 18, 2017
Autosomal recessive distal spinal muscular atrophy 11Jan 21, 2020
Autosomal recessive early-onset Parkinson disease 61Jan 21, 2020
Autosomal recessive hypophosphatemic bone disease12Oct 20, 2017
Autosomal recessive juvenile Parkinson disease 24Aug 10, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2A2Oct 19, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2B1Jan 21, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2D2Jan 21, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2I3Dec 20, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2L1Dec 20, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2T1Aug 10, 2020
Autosomal recessive limb-girdle muscular dystrophy type R181Dec 18, 2017
Autosomal recessive multiple pterygium syndrome2Dec 20, 2022
Autosomal recessive nonsyndromic hearing loss 1A1Jan 21, 2020
Autosomal recessive nonsyndromic hearing loss 231Dec 20, 2022
Autosomal recessive osteopetrosis 41Jan 21, 2020
Autosomal recessive osteopetrosis 51Dec 18, 2017
Autosomal recessive polycystic kidney disease7Jan 21, 2020
Autosomal recessive spinocerebellar ataxia 102Aug 10, 2020
Autosomal recessive spinocerebellar ataxia 141Dec 20, 2022
Autosomal recessive spinocerebellar ataxia 162Oct 19, 2023
Autosomal recessive spinocerebellar ataxia 172Aug 10, 2020
Autosomal recessive spinocerebellar ataxia 181Dec 18, 2017
Avellino corneal dystrophy1Jan 21, 2020
Axial spondylometaphyseal dysplasia1Aug 10, 2020
Baraitser-Winter syndrome 14Aug 10, 2020
Baraitser-winter syndrome 21Jan 21, 2020
Bardet-Biedl syndrome 12Jan 21, 2020
Bardet-Biedl syndrome 102Aug 10, 2020
Bardet-Biedl syndrome 122Dec 18, 2017
Bardet-Biedl syndrome 71Dec 20, 2022
Bartter disease type 21Dec 20, 2022
Basilicata-Akhtar syndrome2Aug 10, 2020
Becker muscular dystrophy2Aug 10, 2020
Benign familial hematuria14Oct 19, 2023
Benign hereditary chorea2Oct 19, 2023
Beta-hydroxyisobutyryl-CoA deacylase deficiency2Dec 18, 2017
Bethlem myopathy 1A2Dec 20, 2022
Bifunctional peroxisomal enzyme deficiency1Jan 28, 2020
Biotin-responsive basal ganglia disease1Dec 18, 2017
Biotinidase deficiency2Jan 21, 2020
Blepharophimosis - intellectual disability syndrome, SBBYS type3Jan 21, 2020
Blepharophimosis, ptosis, and epicanthus inversus syndrome1Jan 21, 2020
Bohring-Opitz syndrome3Dec 20, 2022
Bone marrow failure syndrome 31Jan 21, 2020
Bone marrow failure syndrome 41Jan 21, 2020
Bone mineral density quantitative trait locus 181Aug 10, 2020
Borjeson-Forssman-Lehmann syndrome1Dec 18, 2017
Bosch-Boonstra-Schaaf optic atrophy syndrome1Aug 10, 2020
Brachydactyly type A1A2Oct 19, 2023
Brain small vessel disease 1 with or without ocular anomalies4Oct 19, 2023
Brain-lung-thyroid syndrome1Oct 19, 2023
Branchiooculofacial syndrome2Oct 19, 2023
Branchiootic syndrome 11Jan 21, 2020
Branchiootorenal syndrome 12Oct 19, 2023
Breast-ovarian cancer, familial, susceptibility to, 12Dec 20, 2022
Breast-ovarian cancer, familial, susceptibility to, 22Oct 19, 2023
Bruck syndrome 21Jan 21, 2020
CBL-related disorder1Jan 21, 2020
CHARGE syndrome8Oct 19, 2023
CSDE1-associated disorder1Aug 10, 2020
Camptomelic dysplasia2Dec 18, 2017
Cardiac anomalies - developmental delay - facial dysmorphism syndrome2Jan 21, 2020
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 12Dec 20, 2022
Cardiofaciocutaneous syndrome 13Dec 20, 2022
Cardiofaciocutaneous syndrome 32Dec 20, 2022
Cardiofaciocutaneous syndrome 41Jan 21, 2020
Cardiomyopathy4Dec 20, 2022
Cardiomyopathy, familial hypertrophic, 281Dec 20, 2022
Cardiomyopathy, familial restrictive, 11Aug 10, 2020
Carnitine palmitoyl transferase II deficiency, severe infantile form1Aug 10, 2020
Cataract1Dec 20, 2022
Cataract 9 multiple types1Jan 21, 2020
Central core myopathy3Oct 19, 2023
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41Aug 10, 2020
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome2Aug 10, 2020
Cerebellar ataxia-hypogonadism syndrome2Dec 20, 2022
Cerebellar dysfunction with variable cognitive and behavioral abnormalities2Dec 20, 2022
Cerebellar vermis hypoplasia1Dec 20, 2022
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11Dec 20, 2022
Cerebral calcification5Jun 26, 2018
Cerebral cavernous malformation2Dec 20, 2022
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1Dec 18, 2017
Charcot-Marie-Tooth disease X-linked dominant 13Oct 19, 2023
Charcot-Marie-Tooth disease axonal type 2C1Jan 21, 2020
Charcot-Marie-Tooth disease axonal type 2N1Dec 20, 2022
Charcot-Marie-Tooth disease axonal type 2Z1Jan 21, 2020
Charcot-Marie-Tooth disease dominant intermediate E2Dec 20, 2022
Charcot-Marie-Tooth disease dominant intermediate F1Dec 18, 2017
Charcot-Marie-Tooth disease recessive intermediate A1Jan 21, 2020
Charcot-Marie-Tooth disease type 1F1Dec 20, 2022
Charcot-Marie-Tooth disease type 2A21Dec 20, 2022
Charcot-Marie-Tooth disease type 2I1Jan 21, 2020
Charcot-Marie-Tooth disease type 4B31Jan 21, 2020
Charcot-Marie-Tooth disease type 4C3Dec 20, 2022
Charcot-Marie-Tooth disease, axonal, type 2EE1Jan 21, 2020
Charlevoix-Saguenay spastic ataxia2Jan 21, 2020
Childhood apraxia of speech2Dec 20, 2022
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency2Dec 18, 2017
Childhood onset GLUT1 deficiency syndrome 21Dec 20, 2022
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Aug 10, 2020
Choanal atresia1Dec 20, 2022
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome9Dec 2, 2014
Chondrodysplasia punctata 2 X-linked dominant1Jan 21, 2020
Christianson syndrome1Jan 21, 2020
Chromosome 1p32-p31 deletion syndrome2Aug 10, 2020
Chromosome 2q32-q33 deletion syndrome4Oct 19, 2023
Ciliary dyskinesia, primary, 381Jan 21, 2020
Cirrhosis of liver5Jun 26, 2018
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2Dec 18, 2017
Classic dopamine transporter deficiency syndrome1Jan 21, 2020
Clubfoot1Dec 20, 2022
Cobalamin C disease2Aug 10, 2020
Cockayne syndrome type 12Oct 19, 2023
Coenzyme Q10 deficiency, primary, 13Jan 21, 2020
Coffin-Lowry syndrome1Dec 20, 2022
Coffin-Siris syndrome 15Aug 10, 2020
Coffin-Siris syndrome 64Oct 19, 2023
Coffin-Siris syndrome 81Jan 21, 2020
Cognitive impairment with or without cerebellar ataxia1Jan 21, 2020
Cohen syndrome2Jan 28, 2020
Combined oxidative phosphorylation defect type 144Jan 28, 2020
Combined oxidative phosphorylation defect type 151Dec 18, 2017
Combined oxidative phosphorylation defect type 174Dec 18, 2017
Combined oxidative phosphorylation defect type 204Dec 18, 2017
Combined oxidative phosphorylation defect type 234Dec 18, 2017
Combined oxidative phosphorylation defect type 242Dec 20, 2022
Combined oxidative phosphorylation defect type 41Dec 18, 2017
Combined oxidative phosphorylation defect type 71Jan 28, 2020
Combined oxidative phosphorylation defect type 86Jan 21, 2020
Complex cortical dysplasia with other brain malformations 11Dec 20, 2022
Complex cortical dysplasia with other brain malformations 21Dec 18, 2017
Complex cortical dysplasia with other brain malformations 31Jan 21, 2020
Complex cortical dysplasia with other brain malformations 52Jan 21, 2020
Complex cortical dysplasia with other brain malformations 62Aug 10, 2020
Cone-rod dystrophy 61Dec 18, 2017
Congenital adrenal hypoplasia, X-linked25Oct 20, 2017
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay2Jan 21, 2020
Congenital contracture1Dec 20, 2022
Congenital contractures of the limbs and face, hypotonia, and developmental delay3Oct 19, 2023
Congenital diarrhea 5 with tufting enteropathy1Dec 18, 2017
Congenital disorder of deglycosylation1Jan 21, 2020
Congenital disorder of deglycosylation 12Dec 20, 2022
Congenital dyserythropoietic anemia, type I2Jan 21, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Aug 10, 2020
Congenital heart defects, multiple types, 23Aug 10, 2020
Congenital heart defects, multiple types, 61Oct 19, 2023
Congenital hyperammonemia, type I1Dec 18, 2017
Congenital isolated adrenocorticotropic hormone deficiency2Jan 21, 2020
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1Dec 18, 2017
Congenital multicore myopathy with external ophthalmoplegia6Oct 19, 2023
Congenital muscular hypertrophy-cerebral syndrome2Jan 21, 2020
Congenital myasthenic syndrome 101Aug 10, 2020
Congenital myasthenic syndrome 162Jan 21, 2020
Congenital myasthenic syndrome 191Dec 18, 2017
Congenital myasthenic syndrome 4C3Dec 20, 2022
Congenital myopathy with fiber type disproportion1Jan 21, 2020
Congenital myotonia, autosomal dominant form1Dec 20, 2022
Congenital myotonia, autosomal recessive form2Jan 21, 2020
Congenital secretory diarrhea, chloride type2Oct 19, 2023
Cornelia de Lange syndrome 42Jan 21, 2020
Cowden syndrome 13Dec 20, 2022
Coxopodopatellar syndrome1Jan 21, 2020
Craniofrontonasal syndrome1Jan 21, 2020
Craniosynostosis 41Aug 10, 2020
Creatine transporter deficiency4Dec 20, 2022
Crouzon syndrome1Jan 21, 2020
Cutis laxa, X-linked1Aug 10, 2020
Cystic fibrosis2Jan 21, 2020
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder1Jan 21, 2020
DEGCAGS syndrome1Oct 19, 2023
DNA ligase IV deficiency1Dec 20, 2022
DNAJC30-associated disorder1Aug 10, 2020
DOORS syndrome2Jan 21, 2020
DPAGT1-congenital disorder of glycosylation1Jan 21, 2020
DYRK1A-related intellectual disability syndrome3Dec 20, 2022
Danon disease2Dec 20, 2022
Decreased circulating total IgM1Dec 20, 2022
Deeply set eye2Dec 20, 2022
Deficiency of aromatic-L-amino-acid decarboxylase1Jan 21, 2020
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1Aug 10, 2020
Dejerine-Sottas disease2Jan 21, 2020
Delayed CNS myelination1Dec 20, 2022
Delayed speech and language development1Dec 20, 2022
Dent disease type 12Jan 21, 2020
Desmin-related myofibrillar myopathy1Jan 21, 2020
Desmosterolosis2Jan 21, 2020
Developmental and epileptic encephalopathy 6B1Dec 20, 2022
Developmental and epileptic encephalopathy 891Dec 20, 2022
Developmental and epileptic encephalopathy 942Oct 19, 2023
Developmental and epileptic encephalopathy 971Dec 20, 2022
Developmental and epileptic encephalopathy, 116Dec 20, 2022
Developmental and epileptic encephalopathy, 133Oct 19, 2023
Developmental and epileptic encephalopathy, 141Jan 21, 2020
Developmental and epileptic encephalopathy, 163Oct 19, 2023
Developmental and epileptic encephalopathy, 171Dec 18, 2017
Developmental and epileptic encephalopathy, 192Dec 20, 2022
Developmental and epileptic encephalopathy, 24Oct 19, 2023
Developmental and epileptic encephalopathy, 253Aug 10, 2020
Developmental and epileptic encephalopathy, 261Dec 20, 2022
Developmental and epileptic encephalopathy, 281Jan 28, 2020
Developmental and epileptic encephalopathy, 292Aug 10, 2020
Developmental and epileptic encephalopathy, 321Dec 20, 2022
Developmental and epileptic encephalopathy, 331Oct 19, 2023
Developmental and epileptic encephalopathy, 352Jan 21, 2020
Developmental and epileptic encephalopathy, 371Dec 18, 2017
Developmental and epileptic encephalopathy, 392Jan 28, 2020
Developmental and epileptic encephalopathy, 45Oct 19, 2023
Developmental and epileptic encephalopathy, 422Aug 10, 2020
Developmental and epileptic encephalopathy, 431Dec 20, 2022
Developmental and epileptic encephalopathy, 441Dec 18, 2017
Developmental and epileptic encephalopathy, 503Dec 18, 2017
Developmental and epileptic encephalopathy, 512Dec 20, 2022
Developmental and epileptic encephalopathy, 541Aug 10, 2020
Developmental and epileptic encephalopathy, 551Jan 21, 2020
Developmental and epileptic encephalopathy, 562Oct 19, 2023
Developmental and epileptic encephalopathy, 644Oct 19, 2023
Developmental and epileptic encephalopathy, 654Aug 10, 2020
Developmental and epileptic encephalopathy, 691Aug 10, 2020
Developmental and epileptic encephalopathy, 74Oct 19, 2023
Developmental and epileptic encephalopathy, 701Oct 19, 2023
Developmental and epileptic encephalopathy, 781Aug 10, 2020
Developmental and epileptic encephalopathy, 82Oct 19, 2023
Developmental and epileptic encephalopathy, 802Aug 10, 2020
Developmental and epileptic encephalopathy, 811Aug 10, 2020
Developmental delay and seizures with or without movement abnormalities2Jan 21, 2020
Developmental delay with autism spectrum disorder and gait instability1Jan 28, 2020
Developmental delay with dysmorphic facies and dental anomalies2Dec 20, 2022
Developmental delay with or without intellectual impairment or behavioral abnormalities1Dec 20, 2022
Developmental delay with variable intellectual impairment and behavioral abnormalities3Dec 20, 2022
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1Dec 20, 2022
Developmental delay, impaired speech, and behavioral abnormalities1Dec 20, 2022
Developmental dysplasia of the hip1Dec 20, 2022
Developmental malformations-deafness-dystonia syndrome1Jan 21, 2020
Developmental stagnation1Dec 20, 2022
Diamond-Blackfan anemia 51Jan 21, 2020
Diencephalic-mesencephalic junction dysplasia syndrome 12Dec 20, 2022
Diets-Jongmans syndrome2Dec 20, 2022
Dilated cardiomyopathy 1D1Jan 21, 2020
Dilated cardiomyopathy 1FF1Dec 20, 2022
Dilated cardiomyopathy 1G2Oct 19, 2023
Dilated cardiomyopathy 1S3Oct 19, 2023
Dilated cardiomyopathy 3B1Dec 18, 2017
Distal arthrogryposis type 5D1Dec 18, 2017
Distal myopathy, Tateyama type1Aug 10, 2020
Dopa-responsive dystonia due to sepiapterin reductase deficiency2Dec 20, 2022
Drash syndrome1Jan 21, 2020
Duchenne muscular dystrophy1Oct 19, 2023
Dyskinesia with orofacial involvement, autosomal dominant6Dec 20, 2022
Dysphagia2Dec 20, 2022
Dystonia 124Dec 20, 2022
Dystonia 244Oct 19, 2023
Dystonia 28, childhood-onset13Dec 20, 2022
Dystonia 304Dec 20, 2022
Dystonia 331Dec 20, 2022
Dystonia 54Oct 19, 2023
Dystonia 91Oct 19, 2023
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2Jan 21, 2020
Dystonic disorder1Dec 20, 2022
EEG abnormality1Dec 20, 2022
EEG with spike-wave complexes1Dec 20, 2022
EMG abnormality1Dec 20, 2022
ERI1-associated disorder1Aug 10, 2020
Early-onset generalized limb-onset dystonia1Dec 20, 2022
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome6Aug 10, 2020
Ectodermal dysplasia-syndactyly syndrome 11Jan 21, 2020
Ehlers-Danlos syndrome, kyphoscoliotic type, 21Jan 21, 2020
Ehlers-Danlos syndrome, type 41Oct 19, 2023
Ellis-van Creveld syndrome2Dec 18, 2017
Emery-Dreifuss muscular dystrophy 2, autosomal dominant2Dec 20, 2022
Encephalopathy due to GLUT1 deficiency5Dec 20, 2022
Encephalopathy due to defective mitochondrial and peroxisomal fission 21Dec 20, 2022
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 13Oct 19, 2023
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2Jan 21, 2020
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1Apr 21, 2015
Enlarged kidney1Dec 20, 2022
Epilepsy, early-onset, with or without developmental delay1Aug 10, 2020
Epilepsy, familial focal, with variable foci 11Dec 20, 2022
Epilepsy, familial focal, with variable foci 22Dec 20, 2022
Epilepsy, familial focal, with variable foci 31Dec 20, 2022
Epilepsy, idiopathic generalized, susceptibility to, 151Jan 21, 2020
Epileptic encephalopathy, infantile or early childhood, 21Dec 20, 2022
Epileptic encephalopathy, infantile or early childhood, 31Oct 19, 2023
Epiphyseal dysplasia, multiple, 31Dec 18, 2017
Episodic ataxia type 23Oct 19, 2023
Episodic ataxia, type 91Dec 20, 2022
Episodic kinesigenic dyskinesia 12Oct 19, 2023
Erythrokeratodermia variabilis et progressiva 31Jan 21, 2020
Ethylmalonic encephalopathy3Dec 18, 2017
Exaggerated startle response1Dec 20, 2022
Failure to thrive4Dec 20, 2022
Falls1Dec 20, 2022
Familial Mediterranean fever2Oct 19, 2023
Familial Mediterranean fever, autosomal dominant1Oct 19, 2023
Familial X-linked hypophosphatemic vitamin D refractory rickets112Dec 20, 2022
Familial adenomatous polyposis 11Aug 10, 2020
Familial amyloid neuropathy1Oct 19, 2023
Familial hyperaldosteronism type II1Dec 22, 2017
Familial hypokalemia-hypomagnesemia1Dec 18, 2017
Familial infantile myasthenia1Dec 20, 2022
Familial juvenile hyperuricemic nephropathy type 13Jan 21, 2020
Familial steroid-resistant nephrotic syndrome with sensorineural deafness3Jan 21, 2020
Fanconi anemia complementation group A1Dec 18, 2017
Febrile seizures, familial, 81Dec 20, 2022
Feeding difficulties5Sep 24, 2019
Fetal growth restriction1Dec 20, 2022
Fibrochondrogenesis 21Jan 21, 2020
Fibromatosis, gingival, 51Jan 21, 2020
Finnish congenital nephrotic syndrome2Jan 21, 2020
Finnish type amyloidosis2Jan 21, 2020
Focal dermal hypoplasia1Dec 20, 2022
Focal segmental glomerulosclerosis 51Jan 21, 2020
Focal segmental glomerulosclerosis 61Jan 21, 2020
Focal segmental glomerulosclerosis 72Oct 19, 2023
Focal segmental glomerulosclerosis and neurodevelopmental syndrome1Dec 20, 2022
Frasier syndrome1Aug 10, 2020
Frontotemporal dementia6Jan 21, 2020
Frontotemporal dementia and/or amyotrophic lateral sclerosis 46Jan 28, 2020
Frontotemporal dementia and/or amyotrophic lateral sclerosis 61Oct 19, 2023
Fructose-biphosphatase deficiency1Dec 20, 2022
Fucosidosis2Dec 18, 2017
Fumarase deficiency1Dec 20, 2022
Furrowed tongue1Dec 20, 2022
GM1 gangliosidosis type 22Jan 21, 2020
GRACILE syndrome1Dec 18, 2017
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions14Dec 20, 2022
Gabriele de Vries syndrome2Aug 10, 2020
Galloway-Mowat syndrome 13Dec 20, 2022
Galloway-Mowat syndrome 31Aug 10, 2020
Geleophysic dysplasia 31Aug 10, 2020
Generalized epilepsy with febrile seizures plus, type 26Oct 19, 2023
Generalized epilepsy with febrile seizures plus, type 92Jan 21, 2020
Generalized hypotonia5Sep 24, 2019
Genitopatellar syndrome1Jan 21, 2020
Genitourinary and/or brain malformation syndrome1Aug 10, 2020
Gillespie syndrome1Jan 21, 2020
Global developmental delay10Dec 20, 2022
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies2Jan 21, 2020
Glomuvenous malformation1Aug 10, 2020
Glucocorticoid deficiency 17Oct 20, 2017
Glucose-6-phosphate transport defect2Dec 18, 2017
Glutaric aciduria, type 13Aug 10, 2020
Glycogen storage disease IXa12Jan 21, 2020
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency1Aug 10, 2020
Glycogen storage disease type III2Aug 10, 2020
Glycogen storage disease, type II1Dec 18, 2017
Glycogen storage disease, type V1Jan 21, 2020
Gorlin syndrome2Jan 21, 2020
Grange syndrome2Aug 10, 2020
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome2Dec 18, 2017
Growth delay1Dec 20, 2022
HIST1H4C-associated disorder1Aug 10, 2020
HSD10 mitochondrial disease2Jan 28, 2020
Hamartoma of hypothalamus2Dec 20, 2022
Harel-Yoon syndrome1Aug 10, 2020
Hemangioma1Dec 20, 2022
Hemochromatosis type 11Oct 19, 2023
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 12Jan 21, 2020
Hepatomegaly1Dec 20, 2022
Hereditary factor VIII deficiency disease1Dec 18, 2017
Hereditary intrinsic factor deficiency1Jan 21, 2020
Hereditary leiomyomatosis and renal cell cancer1Aug 10, 2020
Hereditary motor and sensory neuropathy with optic atrophy2Jan 21, 2020
Hereditary spastic paraplegia 116Oct 19, 2023
Hereditary spastic paraplegia 21Dec 18, 2017
Hereditary spastic paraplegia 304Dec 20, 2022
Hereditary spastic paraplegia 311Dec 20, 2022
Hereditary spastic paraplegia 357Oct 19, 2023
Hereditary spastic paraplegia 394Dec 20, 2022
Hereditary spastic paraplegia 3A3Oct 19, 2023
Hereditary spastic paraplegia 48Oct 19, 2023
Hereditary spastic paraplegia 441Dec 20, 2022
Hereditary spastic paraplegia 5A2Jan 21, 2020
Hereditary spastic paraplegia 76Dec 20, 2022
Hereditary spastic paraplegia 753Aug 10, 2020
Heterotaxy, visceral, 7, autosomal2Aug 10, 2020
Heterotopia, periventricular, X-linked dominant2Dec 20, 2022
Hiatt-Neu-Cooper neurodevelopmental syndrome1Dec 20, 2022
High anterior hairline1Dec 20, 2022
Hogue-Janssens syndrome 13Oct 19, 2023
Holoprosencephaly 31Aug 10, 2020
Holt-Oram syndrome2Oct 19, 2023
Houge-Janssens syndrome 22Oct 19, 2023
Houge-Janssens syndrome 33Aug 10, 2020
Hurler syndrome1Dec 20, 2022
Hyper-IgM syndrome type 11Dec 20, 2022
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency1Jan 28, 2020
Hypercalcemia, infantile, 13Oct 19, 2023
Hypercholesterolemia, autosomal dominant, type B1Aug 10, 2020
Hypercholesterolemia, familial, 15Oct 19, 2023
Hyperekplexia 13Dec 20, 2022
Hyperinsulinemic hypoglycemia, familial, 11Jan 21, 2020
Hypermetropia4Dec 20, 2022
Hyperpigmentation with or without hypopigmentation, familial progressive1Dec 20, 2022
Hypertrichotic osteochondrodysplasia Cantu type1Aug 10, 2020
Hypertrophic cardiomyopathy1Dec 20, 2022
Hypertrophic cardiomyopathy 13Oct 19, 2023
Hypertrophic cardiomyopathy 181Dec 20, 2022
Hypertrophic cardiomyopathy 46Oct 19, 2023
Hypertrophic cardiomyopathy 71Dec 18, 2017
Hypoglycemia1Dec 20, 2022
Hypogonadotropic hypogonadism 2 with or without anosmia2Dec 20, 2022
Hypogonadotropic hypogonadism 7 with or without anosmia2Jan 21, 2020
Hypohidrotic X-linked ectodermal dysplasia2Dec 20, 2022
Hypokalemic periodic paralysis, type 22Oct 19, 2023
Hypomagnesemia, seizures, and intellectual disability 11Dec 18, 2017
Hypomyelinating leukodystrophy 63Jan 21, 2020
Hypophosphatemic rickets, autosomal recessive, 12Oct 20, 2017
Hypophosphatemic rickets, autosomal recessive, 24Oct 20, 2017
Hypopituitarism1Dec 20, 2022
Hypothyroidism1Dec 20, 2022
Hypotonia2Dec 20, 2022
Hypotonia, ataxia, and delayed development syndrome2Oct 19, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22Dec 20, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32Jan 21, 2020
Ichthyosis vulgaris3Dec 20, 2022
Ichthyosis, congenital, autosomal recessive 133Jan 21, 2020
Imagawa-Matsumoto syndrome1Aug 10, 2020
Immunodeficiency 671Dec 20, 2022
Immunodeficiency, common variable, 101Jan 21, 2020
Immunoglobulin A deficiency 21Aug 10, 2020
Immunoglobulin-mediated membranoproliferative glomerulonephritis1Jan 21, 2020
Imperforate anus1Dec 20, 2022
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 11Dec 20, 2022
Infantile neuroaxonal dystrophy3Jan 21, 2020
Infantile onset spinocerebellar ataxia2Dec 18, 2017
Infantile spasms5Sep 24, 2019
Infantile-onset ascending hereditary spastic paralysis3Jan 21, 2020
Infantile-onset generalized dyskinesia with orofacial involvement1Jan 21, 2020
Inguinal hernia1Dec 20, 2022
Intellectual developmental disorder 622Dec 20, 2022
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature1Jan 21, 2020
Intellectual developmental disorder with autism and macrocephaly4Oct 19, 2023
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities3Aug 10, 2020
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Oct 19, 2023
Intellectual developmental disorder with hypotonia and behavioral abnormalities1Aug 10, 2020
Intellectual developmental disorder with impaired language and dysmorphic facies1Dec 20, 2022
Intellectual developmental disorder with macrocephaly, seizures, and speech delay1Jan 21, 2020
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Jan 21, 2020
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1Aug 10, 2020
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities5Dec 20, 2022
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies2Oct 19, 2023
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly1Oct 19, 2023
Intellectual developmental disorder, autosomal recessive 671Oct 19, 2023
Intellectual disability2Dec 20, 2022
Intellectual disability, X-linked 1025Dec 20, 2022
Intellectual disability, X-linked 1061Dec 20, 2022
Intellectual disability, X-linked 1071Aug 10, 2020
Intellectual disability, X-linked 211Jan 28, 2020
Intellectual disability, X-linked 491Jan 21, 2020
Intellectual disability, X-linked 991Oct 19, 2023
Intellectual disability, X-linked 99, syndromic, female-restricted1Dec 18, 2017
Intellectual disability, X-linked syndromic, Turner type2Jan 21, 2020
Intellectual disability, X-linked, syndromic, Bain type2Jan 21, 2020
Intellectual disability, autosomal dominant 11Dec 20, 2022
Intellectual disability, autosomal dominant 131Dec 18, 2017
Intellectual disability, autosomal dominant 151Dec 18, 2017
Intellectual disability, autosomal dominant 163Jan 21, 2020
Intellectual disability, autosomal dominant 201Dec 18, 2017
Intellectual disability, autosomal dominant 222Oct 19, 2023
Intellectual disability, autosomal dominant 273Dec 20, 2022
Intellectual disability, autosomal dominant 292Oct 19, 2023
Intellectual disability, autosomal dominant 301Jan 28, 2020
Intellectual disability, autosomal dominant 401Jan 21, 2020
Intellectual disability, autosomal dominant 413Dec 20, 2022
Intellectual disability, autosomal dominant 423Oct 19, 2023
Intellectual disability, autosomal dominant 431Oct 19, 2023
Intellectual disability, autosomal dominant 54Oct 19, 2023
Intellectual disability, autosomal dominant 502Dec 20, 2022
Intellectual disability, autosomal dominant 531Dec 20, 2022
Intellectual disability, autosomal dominant 541Oct 19, 2023
Intellectual disability, autosomal dominant 55, with seizures1Jan 21, 2020
Intellectual disability, autosomal dominant 561Oct 19, 2023
Intellectual disability, autosomal dominant 571Jan 21, 2020
Intellectual disability, autosomal dominant 581Jan 21, 2020
Intellectual disability, autosomal dominant 62Oct 19, 2023
Intellectual disability, autosomal dominant 82Jan 21, 2020
Intellectual disability, autosomal dominant 91Jan 21, 2020
Intellectual disability, autosomal recessive 451Dec 20, 2022
Intellectual disability, autosomal recessive 532Jan 21, 2020
Intellectual disability, autosomal recessive 651Oct 19, 2023
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency3Aug 10, 2020
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome2Aug 10, 2020
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome2Dec 20, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Jan 21, 2020
Interstitial pneumonitis5Jun 26, 2018
Intracranial hemorrhage1Dec 20, 2022
Isolated growth hormone deficiency, type 41Jan 21, 2020
Joubert syndrome 172Aug 10, 2020
Joubert syndrome 231Jan 21, 2020
Joubert syndrome 31Oct 19, 2023
Joubert syndrome 332Jan 21, 2020
Joubert syndrome 52Jan 21, 2020
Junctional epidermolysis bullosa, non-Herlitz type2Dec 20, 2022
Juvenile onset Parkinson disease 19A1Aug 10, 2020
Juvenile primary lateral sclerosis2Jan 21, 2020
KBG syndrome8Oct 19, 2023
Kabuki syndrome 110Dec 20, 2022
Kabuki syndrome 22Aug 10, 2020
Kartagener syndrome2Jan 21, 2020
Keratosis follicularis1Jan 21, 2020
Ketoacidosis due to monocarboxylate transporter-1 deficiency1Oct 19, 2023
Kleefstra syndrome 12Oct 19, 2023
Kleefstra syndrome 21Jan 21, 2020
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome1Jan 21, 2020
Lactic acidosis3Mar 5, 2019
Lamb-Shaffer syndrome1Jan 21, 2020
Landau-Kleffner syndrome3Dec 20, 2022
Laron-type isolated somatotropin defect1Jan 21, 2020
Larsen syndrome1Dec 20, 2022
Leber congenital amaurosis 41Oct 19, 2023
Left ventricular noncompaction 102Oct 19, 2023
Leigh syndrome5Jan 21, 2020
Lethal congenital contracture syndrome 112Jan 21, 2020
Leukocyte adhesion deficiency type II1Aug 10, 2020
Leukodystrophy, hypomyelinating, 221Dec 20, 2022
Leukoencephalopathy with mild cerebellar ataxia and white matter edema1Jan 28, 2020
Leukoencephalopathy, diffuse hereditary, with spheroids 11Dec 20, 2022
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome6Oct 19, 2023
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome2Dec 18, 2017
Li-Campeau syndrome1Dec 20, 2022
Lipid proteinosis2Dec 20, 2022
Lissencephaly due to TUBA1A mutation1Dec 18, 2017
Loeys-Dietz syndrome 11Dec 18, 2017
Loeys-Dietz syndrome 22Oct 19, 2023
Long QT syndrome 152Jan 21, 2020
Long QT syndrome 23Oct 19, 2023
Luscan-Lumish syndrome1Aug 10, 2020
MANEAL-associated disorder1Aug 10, 2020
MEGF10-related myopathy1Oct 19, 2023
MEHMO syndrome1Dec 18, 2017
MOGS-congenital disorder of glycosylation2Jan 21, 2020
MPDU1-congenital disorder of glycosylation1Dec 18, 2017
MYH7-related skeletal myopathy2Dec 18, 2017
Macrocephaly1Dec 18, 2017
Macrocephaly-autism syndrome1Jan 21, 2020
Macrocephaly-developmental delay syndrome1Jan 21, 2020
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1Jan 21, 2020
Macroglossia1Dec 20, 2022
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1Dec 18, 2017
Malan overgrowth syndrome2Oct 19, 2023
Maleylacetoacetate isomerase deficiency1Jan 21, 2020
Malignant hyperthermia, susceptibility to, 13Oct 19, 2023
Malignant hyperthermia, susceptibility to, 51Dec 20, 2022
Mandibular hypoplasia-deafness-progeroid syndrome1Dec 20, 2022
Marfan syndrome9Oct 19, 2023
Maturity-onset diabetes of the young type 11Oct 19, 2023
Maturity-onset diabetes of the young type 21Dec 20, 2022
Maturity-onset diabetes of the young type 31Oct 19, 2023
Meckel syndrome, type 32Jan 21, 2020
Medium-chain acyl-coenzyme A dehydrogenase deficiency2Jan 21, 2020
Megalencephaly-capillary malformation-polymicrogyria syndrome2Dec 20, 2022
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Aug 10, 2020
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21Jan 21, 2020
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31Dec 20, 2022
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression2Aug 10, 2020
Metachromatic leukodystrophy6Dec 20, 2022
Methylmalonic acidemia with homocystinuria, type cblJ2Aug 10, 2020
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency4Dec 20, 2022
Methylmalonic aciduria, cblB type1Jan 21, 2020
Mevalonic aciduria3Aug 10, 2020
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant1Dec 20, 2022
Microcephaly8Dec 20, 2022
Microcephaly 24, primary, autosomal recessive1Jan 21, 2020
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability3Dec 20, 2022
Microcephaly, seizures, and developmental delay2Jan 21, 2020
Microcephaly, short stature, and limb abnormalities2Dec 18, 2017
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome4Dec 18, 2017
Microcytic anemia1Dec 20, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome2Jan 21, 2020
Microphthalmia2Dec 20, 2022
Microphthalmia, syndromic 121Dec 20, 2022
Microretrognathia1Dec 20, 2022
Microtia1Dec 20, 2022
Migraine, familial hemiplegic, 11Dec 20, 2022
Migraine, familial hemiplegic, 21Dec 20, 2022
Mitochondrial DNA deletion syndrome with progressive myopathy1Jan 21, 2020
Mitochondrial DNA depletion syndrome 11Dec 20, 2022
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1Dec 18, 2017
Mitochondrial DNA depletion syndrome 137Aug 10, 2020
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)2Dec 18, 2017
Mitochondrial DNA depletion syndrome 4b2Dec 20, 2022
Mitochondrial complex 1 deficiency, nuclear type 21Dec 20, 2022
Mitochondrial complex 1 deficiency, nuclear type 301Dec 20, 2022
Mitochondrial complex 1 deficiency, nuclear type 311Jan 21, 2020
Mitochondrial complex 1 deficiency, nuclear type 42Aug 10, 2020
Mitochondrial complex 1 deficiency, nuclear type 51Dec 20, 2022
Mitochondrial complex I deficiency2Dec 18, 2017
Mitochondrial complex III deficiency nuclear type 21Aug 10, 2020
Mitochondrial complex IV deficiency, nuclear type 14Dec 20, 2022
Mitochondrial complex V (ATP synthase) deficiency nuclear type 23Dec 20, 2022
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency9Dec 20, 2022
Mitochondrial pyruvate carrier deficiency1Dec 18, 2017
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency9Dec 20, 2022
Miyoshi muscular dystrophy 12Dec 20, 2022
Miyoshi muscular dystrophy 34Oct 19, 2023
Motor delay2Dec 20, 2022
Mowat-Wilson syndrome4Jan 21, 2020
Mullegama-Klein-Martinez syndrome3Dec 20, 2022
Multicentric carpo-tarsal osteolysis with or without nephropathy1Jan 21, 2020
Multicystic kidney dysplasia1Dec 20, 2022
Multiple acyl-CoA dehydrogenase deficiency1Dec 18, 2017
Multiple congenital anomalies-hypotonia-seizures syndrome 17Dec 20, 2022
Multiple congenital anomalies-hypotonia-seizures syndrome 22Jan 21, 2020
Multiple epiphyseal dysplasia type 11Jan 21, 2020
Multiple mitochondrial dysfunctions syndrome 12Dec 18, 2017
Multiple mitochondrial dysfunctions syndrome 41Dec 18, 2017
Multiple mitochondrial dysfunctions syndrome 61Oct 19, 2023
Multiple sulfatase deficiency1Dec 18, 2017
Multisystemic smooth muscle dysfunction syndrome1Aug 10, 2020
Muscle spasm1Dec 20, 2022
Muscular dystrophy, limb-girdle, autosomal recessive 232Dec 20, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111Dec 18, 2017
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B12Dec 18, 2017
Myeloid maturation arrest1Dec 20, 2022
Myhre syndrome2Dec 20, 2022
Myoclonic dystonia 1115Oct 19, 2023
Myoclonic-astatic epilepsy3Dec 20, 2022
Myofibrillar myopathy 31Jan 21, 2020
Myoglobinuria, acute recurrent, autosomal recessive1Jan 21, 2020
Myopathy, congenital, progressive, with scoliosis1Aug 10, 2020
Nail-patella syndrome4Aug 10, 2020
Nemaline myopathy 101Jan 21, 2020
Nemaline myopathy 26Jan 28, 2020
Nemaline myopathy 81Jan 21, 2020
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome3Jan 21, 2020
Neonatal-onset encephalopathy with rigidity and seizures2Dec 20, 2022
Nephrocalcinosis1Dec 20, 2022
Nephrotic syndrome, type 131Jan 21, 2020
Nephrotic syndrome, type 26Oct 19, 2023
Nephrotic syndrome, type 241Dec 20, 2022
Nephrotic syndrome, type 31Jan 28, 2020
Nephrotic syndrome, type 41Oct 19, 2023
Nephrotic syndrome, type 91Jan 21, 2020
Neurodegeneration with brain iron accumulation 2B2Jan 21, 2020
Neurodegeneration with brain iron accumulation 44Oct 19, 2023
Neurodegeneration with brain iron accumulation 54Aug 10, 2020
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures2Jan 21, 2020
Neurodevelopmental disorder with hypotonia, seizures, and absent language2Jan 21, 2020
Neurodevelopmental disorder with impaired speech and hyperkinetic movements4Jan 21, 2020
Neurodevelopmental disorder with involuntary movements3Oct 19, 2023
Neurodevelopmental disorder with language impairment and behavioral abnormalities3Oct 19, 2023
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies2Aug 10, 2020
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities2Oct 19, 2023
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy3Aug 10, 2020
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1Oct 19, 2023
Neurodevelopmental disorder with or without autism or seizures1Dec 20, 2022
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA2Aug 10, 2020
Neurodevelopmental disorder with poor language and loss of hand skills1Dec 20, 2022
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1Jan 21, 2020
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Aug 10, 2020
Neurodevelopmental disorder with speech impairment and dysmorphic facies1Dec 20, 2022
Neurodevelopmental disorder with visual defects and brain anomalies1Aug 10, 2020
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures6Aug 10, 2020
Neurodevelopmental, jaw, eye, and digital syndrome1Dec 20, 2022
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities2Dec 20, 2022
Neuroferritinopathy1Dec 20, 2022
Neurofibromatosis, type 15Dec 20, 2022
Neurofibromatosis, type 21Dec 20, 2022
Neuronal ceroid lipofuscinosis 131Jan 21, 2020
Neuronal ceroid lipofuscinosis 22Dec 18, 2017
Neuronal ceroid lipofuscinosis 32Jan 28, 2020
Neuronal ceroid lipofuscinosis 71Dec 18, 2017
Neuronopathy, distal hereditary motor, type 5C1Dec 20, 2022
Neuropathy, hereditary motor and sensory, type 6A1Dec 20, 2022
Neuropathy, hereditary motor and sensory, type 6B1Dec 18, 2017
Nicolaides-Baraitser syndrome1Dec 20, 2022
Niemann-Pick disease, type C13Jan 21, 2020
Non-ketotic hyperglycinemia2Jan 21, 2020
Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus8Jul 26, 2019
Noncompaction cardiomyopathy1Dec 20, 2022
Noonan syndrome 110Oct 19, 2023
Noonan syndrome 131Dec 20, 2022
Noonan syndrome 31Dec 20, 2022
Noonan syndrome 42Dec 29, 2023
Noonan syndrome 52Aug 10, 2020
Noonan syndrome 71Dec 20, 2022
Noonan syndrome 82Jan 21, 2020
Nystagmus3Dec 20, 2022
O'Donnell-Luria-Rodan syndrome1Dec 20, 2022
Obesity due to prohormone convertase I deficiency2Jan 21, 2020
Oculocerebrofacial syndrome, Kaufman type2Dec 18, 2017
Oculofaciocardiodental syndrome2Oct 19, 2023
Oculopharyngeal muscular dystrophy1Jan 21, 2020
Odonto-onycho-dermal dysplasia1Jan 21, 2020
Ogden syndrome1Dec 18, 2017
Okur-Chung neurodevelopmental syndrome1Aug 10, 2020
Opsoclonus2Dec 20, 2022
Optic atrophy1Dec 20, 2022
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1Jan 21, 2020
Ornithine aminotransferase deficiency1Jan 21, 2020
Osteogenesis imperfecta type I1Jan 21, 2020
Osteogenesis imperfecta with normal sclerae, dominant form1Jan 21, 2020
Oto-palato-digital syndrome, type I1Jan 21, 2020
POU3F2-associated disorder1Aug 10, 2020
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome5Aug 10, 2020
Pachyonychia congenita 11Dec 18, 2017
Paramyotonia congenita of Von Eulenburg2Aug 10, 2020
Parkinson disease, late-onset7Oct 19, 2023
Parkinsonian disorder1Dec 20, 2022
Parkinsonian-pyramidal syndrome2Dec 18, 2017
Paroxysmal nonkinesigenic dyskinesia 11Oct 19, 2023
Patent ductus arteriosus1Dec 20, 2022
Patent foramen ovale1Dec 20, 2022
Periventricular nodular heterotopia 81Dec 20, 2022
Peroxisome biogenesis disorder 1A (Zellweger)3Dec 20, 2022
Peroxisome biogenesis disorder 4A (Zellweger)3Oct 19, 2023
Perry syndrome1Dec 20, 2022
Persistent patent ductus venosus1Dec 20, 2022
Pes planus1Dec 20, 2022
Phelan-McDermid syndrome1Jan 21, 2020
Phenylketonuria1Dec 20, 2022
Phosphoenolpyruvate carboxykinase deficiency, cytosolic2Jan 21, 2020
Phosphoribosylpyrophosphate synthetase superactivity1Jan 21, 2020
Pigmentary pallidal degeneration5Dec 20, 2022
Pigmented nodular adrenocortical disease, primary, 42Dec 10, 2014
Pitt-Hopkins syndrome3Jan 21, 2020
Pituitary dependent hypercortisolism5Nov 18, 2014
Poirier-Bienvenu neurodevelopmental syndrome2Dec 20, 2022
Polycystic kidney disease, adult type4Dec 20, 2022
Polyglucosan body myopathy type 11Jan 21, 2020
Polymicrogyria1Dec 20, 2022
Pontocerebellar hypoplasia type 1B2Dec 20, 2022
Pontocerebellar hypoplasia type 63Jan 21, 2020
Pontocerebellar hypoplasia type 91Dec 18, 2017
Pontocerebellar hypoplasia, type 1D1Dec 20, 2022
Porencephaly 21Jan 21, 2020
Primary ciliary dyskinesia 72Jan 21, 2020
Progeroid facial appearance2Dec 20, 2022
Progressive demyelinating neuropathy with bilateral striatal necrosis1Dec 18, 2017
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 14Jan 21, 2020
Progressive myoclonic epilepsy type 71Dec 18, 2017
Progressive myositis ossificans1Jan 21, 2020
Progressive retinal dystrophy due to retinol transport defect1Aug 10, 2020
Prolidase deficiency2Jan 21, 2020
Proliferative vitreoretinopathy1Aug 10, 2020
Propionic acidemia3Mar 5, 2019
Proximal lower limb amyotrophy1Dec 20, 2022
Proximal muscle weakness1Dec 20, 2022
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1Jan 21, 2020
Psychomotor retardation2Dec 20, 2022
Pubertal developmental failure in females1Dec 20, 2022
Pulmonary alveolar proteinosis3Dec 2, 2014
Pulmonary valve stenosis1Dec 20, 2022
Pyridoxine-dependent epilepsy1Oct 19, 2023
Pyruvate carboxylase deficiency1Aug 10, 2020
Pyruvate dehydrogenase E1-alpha deficiency12Oct 19, 2023
Pyruvate dehydrogenase E3-binding protein deficiency1Dec 18, 2017
RFT1-congenital disorder of glycosylation1Jan 21, 2020
Rapp-Hodgkin ectodermal dysplasia syndrome1Jan 21, 2020
Recurrent infections1Dec 20, 2022
Reduced left ventricular ejection fraction1Dec 20, 2022
Relative macrocephaly1Dec 20, 2022
Renal coloboma syndrome2Oct 19, 2023
Renal cysts and diabetes syndrome1Oct 19, 2023
Renal dysplasia1Dec 20, 2022
Renal hypodysplasia/aplasia 11Dec 20, 2022
Renal tubular dysgenesis1Jan 21, 2020
Renpenning syndrome1Jan 21, 2020
Respiratory distress5Sep 24, 2019
Retinitis pigmentosa 11Oct 19, 2023
Retinitis pigmentosa 21Oct 19, 2023
Retinitis pigmentosa 662Dec 20, 2022
Retinitis pigmentosa 802Oct 19, 2023
Retractile testis1Dec 20, 2022
Retrognathia1Dec 20, 2022
Rett syndrome10Oct 19, 2023
Rett syndrome, congenital variant7Oct 19, 2023
Roifman syndrome1Oct 19, 2023
Rothmund-Thomson syndrome, type 31Aug 10, 2020
SETD1B-associated disorder1Aug 10, 2020
SNF8-associated disease7Dec 7, 2023
SPATA5L1-associated disorder7Aug 10, 2020
SSR4-congenital disorder of glycosylation1Aug 10, 2020
Saldino-Mainzer syndrome2Jan 28, 2020
Sarcotubular myopathy1Oct 19, 2023
Schuurs-Hoeijmakers syndrome1Oct 19, 2023
Seizure6Dec 20, 2022
Seizures, benign familial neonatal, 11Dec 18, 2017
Sengers syndrome2Dec 18, 2017
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis4Jan 21, 2020
Severe X-linked myotubular myopathy2Jan 21, 2020
Severe early-childhood-onset retinal dystrophy2Oct 19, 2023
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome6Oct 19, 2023
Severe global developmental delay3Dec 20, 2022
Severe intellectual disability-progressive spastic diplegia syndrome4Oct 19, 2023
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome1Jan 21, 2020
Severe myoclonic epilepsy in infancy3Dec 20, 2022
Short stature2Dec 20, 2022
Short-rib thoracic dysplasia 17 with or without polydactyly1Jan 28, 2020
Shwachman-Diamond syndrome 13Dec 20, 2022
Siddiqi syndrome1Aug 10, 2020
Sifrim-Hitz-Weiss syndrome1Aug 10, 2020
Smith-Lemli-Opitz syndrome2Dec 18, 2017
Smith-Magenis syndrome1Jan 21, 2020
Snijders Blok-Campeau syndrome6Oct 19, 2023
Snijders blok-fisher syndrome2Aug 10, 2020
Sotos syndrome4Oct 19, 2023
Spastic paraplegia 52, autosomal recessive1Dec 18, 2017
Spastic paraplegia 82, autosomal recessive1Aug 10, 2020
Spastic paraplegia 83, autosomal recessive1Dec 20, 2022
Speech apraxia1Dec 20, 2022
Spermatogenic failure 311Jan 21, 2020
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1Dec 20, 2022
Spinocerebellar ataxia 482Dec 20, 2022
Spinocerebellar ataxia type 19/221Aug 10, 2020
Spinocerebellar ataxia type 211Dec 20, 2022
Spinocerebellar ataxia type 271Aug 10, 2020
Spinocerebellar ataxia type 282Jan 21, 2020
Spinocerebellar ataxia type 52Jan 21, 2020
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 23Jan 21, 2020
Spondylocarpotarsal synostosis syndrome2Jan 21, 2020
Spondyloepimetaphyseal dysplasia, Genevieve type1Jan 21, 2020
Spondyloepimetaphyseal dysplasia, PAPSS2 type1Aug 10, 2020
Spondyloepiphyseal dysplasia, kondo-fu type2Aug 10, 2020
Spondyloperipheral dysplasia1Jan 21, 2020
Stankiewicz-Isidor syndrome1Jan 21, 2020
Steel syndrome2Jan 21, 2020
Stenosis of the external auditory canal1Dec 20, 2022
Stereotypic movement disorder2Dec 20, 2022
Sterol carrier protein 2 deficiency1Dec 18, 2017
Stickler syndrome type 12Oct 19, 2023
Stickler syndrome type 21Dec 20, 2022
Strabismus2Dec 20, 2022
Striatal degeneration, autosomal dominant 21Jan 21, 2020
Stroke disorder1Dec 20, 2022
Stüve-Wiedemann syndrome 11Dec 20, 2022
Sucrase-isomaltase deficiency1Dec 20, 2022
Syndromic X-linked intellectual disability 142Jan 21, 2020
Syndromic X-linked intellectual disability 341Jan 21, 2020
Syndromic X-linked intellectual disability 941Oct 19, 2023
Syndromic X-linked intellectual disability Claes-Jensen type1Dec 20, 2022
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome4Oct 19, 2023
Tatton-Brown-Rahman overgrowth syndrome1Dec 20, 2022
Tay-Sachs disease4Dec 20, 2022
Tay-Sachs disease, variant AB1Oct 19, 2023
Telangiectasia, hereditary hemorrhagic, type 12Aug 10, 2020
Tetralogy of Fallot1Dec 18, 2017
Thanatophoric dysplasia type 11Aug 10, 2020
Thrombocytopenia1Dec 20, 2022
Thrombocytopenia 51Dec 20, 2022
Thyroid dyshormonogenesis 61Jan 21, 2020
Tibial muscular dystrophy1Aug 10, 2020
Tolchin-Le Caignec syndrome1Oct 19, 2023
Torsion dystonia 63Dec 20, 2022
Townes-Brocks syndrome 12Aug 10, 2020
Treacher Collins syndrome 11Jan 21, 2020
Trichiasis2Dec 20, 2022
Trichorhinophalangeal dysplasia type I2Dec 20, 2022
Tuberous sclerosis 11Jan 21, 2020
Tuberous sclerosis 22Oct 19, 2023
Tumoral calcinosis, hyperphosphatemic, familial, 13Oct 20, 2017
Upshaw-Schulman syndrome1Oct 19, 2023
Usmani-Riazuddin syndrome, autosomal dominant1Dec 20, 2022
VPS16-associated disorder1Aug 10, 2020
Vanishing white matter disease2Jan 21, 2020
Vascular dilatation5Jun 26, 2018
Vasculitis due to ADA2 deficiency3Aug 10, 2020
Ventricular septal defect1Dec 20, 2022
Very long chain acyl-CoA dehydrogenase deficiency2Dec 20, 2022
Vici syndrome3Dec 18, 2017
Visceral myopathy 11Jan 21, 2020
Vissers-Bodmer syndrome2Dec 20, 2022
Werner syndrome1Jan 21, 2020
Wieacker-Wolff syndrome1Jan 21, 2020
Wieacker-Wolff syndrome, female-restricted1Dec 20, 2022
Wiedemann-Steiner syndrome4Dec 20, 2022
Wilson disease2Jan 21, 2020
Wolcott-Rallison dysplasia1Jan 21, 2020
Wolfram syndrome 12Jan 21, 2020
Wolfram-like syndrome1Jan 21, 2020
X-linked Alport syndrome51Oct 19, 2023
X-linked central congenital hypothyroidism with late-onset testicular enlargement1Jan 21, 2020
X-linked chondrodysplasia punctata 11Oct 19, 2023
X-linked hydrocephalus syndrome1Aug 10, 2020
X-linked intellectual disability Cabezas type1Dec 20, 2022
X-linked intellectual disability with marfanoid habitus1Dec 20, 2022
X-linked intellectual disability, Cantagrel type1Aug 10, 2020
X-linked intellectual disability, van Esch type1Jan 21, 2020
X-linked intellectual disability-short stature-overweight syndrome1Jan 21, 2020
Xeroderma pigmentosum group A1Oct 19, 2023
Xeroderma pigmentosum, group F2Dec 20, 2022
ZTTK syndrome1Jan 21, 2020
Zimmermann-Laband syndrome 11Dec 18, 2017
beta Thalassemia1Aug 10, 2020
von Willebrand disease type 31Aug 10, 2020