Institute of Human Genetics (Klinikum rechts der Isar), IHG-MRI-TUM

General information

Institute of Human Genetics, IHG-MRI-TUM
Klinikum rechts der Isar
Munich
Germany - 81675

Organization ID: 500240

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1439

Gene

GeneSubmissionsLast Updated
AARS12Aug 10, 2020
AARS26Jan 21, 2020
ABCC81Jan 21, 2020
ABCC91Aug 10, 2020
ABCD42Aug 10, 2020
ACADM2Jan 21, 2020
ACADVL1Jan 21, 2020
ACTA13Jan 21, 2020
ACTA21Aug 10, 2020
ACTB5Aug 10, 2020
ACTG12Jan 21, 2020
ACTG21Jan 21, 2020
ACVR11Jan 21, 2020
ADA23Aug 10, 2020
ADAR2Dec 18, 2017
ADCY54Jan 21, 2020
ADPRS2Jan 21, 2020
ADSL1Jan 21, 2020
AFF31Aug 10, 2020
AFG3L22Jan 21, 2020
AGK2Dec 18, 2017
AGL2Aug 10, 2020
AGO11Aug 10, 2020
AGT1Jan 21, 2020
AHDC12Jan 21, 2020
AKT31Jan 21, 2020
ALDH18A12Jan 21, 2020
ALS25Jan 21, 2020
AMPD21Dec 18, 2017
ANKRD115Aug 10, 2020
ANO102Aug 10, 2020
ANO32Jan 21, 2020
ANO54Aug 10, 2020
AP4S11Dec 18, 2017
APC1Aug 10, 2020
APOB1Aug 10, 2020
ARID1B5Aug 10, 2020
ARID22Aug 10, 2020
ARSA4Jan 21, 2020
ASXL12Jan 21, 2020
ASXL33Jan 21, 2020
ATAD3A1Aug 10, 2020
ATL11Jan 21, 2020
ATM10Jan 21, 2020
ATP1A13Dec 10, 2014
ATP1A37Aug 10, 2020
ATP2A21Jan 21, 2020
ATP2B33Dec 10, 2014
ATP5MC31Aug 10, 2020
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
BCAP311Jan 21, 2020
BCL11B4Aug 10, 2020
BCL2L2-PABPN11Jan 21, 2020
BCS1L1Dec 18, 2017
BICD21Jan 21, 2020
BRAF2Dec 18, 2017
BTD2Jan 21, 2020
C11orf655Jan 21, 2020
C19orf122Aug 10, 2020
CA5A1Jan 28, 2020
CACNA1A4Aug 10, 2020
CACNA1E1Aug 10, 2020
CAD3Dec 18, 2017
CALM22Jan 21, 2020
CAMTA11Aug 10, 2020
CAPN51Aug 10, 2020
CASD18Jan 28, 2020
CAV31Aug 10, 2020
CBL1Jan 21, 2020
CBLIF1Jan 21, 2020
CCPG11Aug 10, 2020
CDAN12Jan 21, 2020
CDC421Dec 18, 2017
CDK131Aug 10, 2020
CDK81Aug 10, 2020
CDKL52Dec 18, 2017
CEP2902Jan 21, 2020
CFAP3001Jan 21, 2020
CFAP4101Aug 10, 2020
CFTR2Jan 21, 2020
CFTR-AS11Jan 21, 2020
CHAMP11Jan 21, 2020
CHD21Jan 21, 2020
CHD32Aug 10, 2020
CHD41Aug 10, 2020
CHD74Dec 18, 2017
CHD82Jan 21, 2020
CHRNE2Jan 21, 2020
CLCN12Jan 21, 2020
CLCN22Jan 28, 2020
CLCN41Jan 21, 2020
CLCN52Jan 21, 2020
CLCN71Jan 21, 2020
CLN32Jan 28, 2020
CNNM21Dec 18, 2017
CNOT31Aug 10, 2020
COL11A21Jan 21, 2020
COL13A11Dec 18, 2017
COL1A11Jan 21, 2020
COL1A21Jan 21, 2020
COL27A12Jan 21, 2020
COL2A13Jan 21, 2020
COL4A13Aug 10, 2020
COL4A21Jan 21, 2020
COL4A317Aug 10, 2020
COL4A43Aug 10, 2020
COL4A536Aug 10, 2020
COL6A31Jan 21, 2020
COL9A31Dec 18, 2017
COMP2Jan 21, 2020
COQ23Jan 21, 2020
COQ43Jan 21, 2020
COQ63Jan 21, 2020
COQ8A3Jan 21, 2020
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
CSNK2A11Aug 10, 2020
CTCF2Aug 10, 2020
CTNNB12Jan 21, 2020
CTSF1Jan 21, 2020
CWF19L12Aug 10, 2020
CYFIP24Aug 10, 2020
CYP21A22Dec 18, 2017
CYP7B12Jan 21, 2020
DDC1Jan 21, 2020
DDC-AS11Jan 21, 2020
DDX3X4Aug 10, 2020
DENND111Dec 18, 2017
DES1Jan 21, 2020
DGKE1Jan 21, 2020
DGUOK2Dec 18, 2017
DGUOK-AS11Dec 18, 2017
DHCR242Jan 21, 2020
DHCR72Dec 18, 2017
DHDDS2Jan 21, 2020
DMD3Aug 10, 2020
DMP12Oct 20, 2017
DMXL21Aug 10, 2020
DNA21Jan 21, 2020
DNAAF4-CCPG11Aug 10, 2020
DNAH112Jan 21, 2020
DNAI12Jan 21, 2020
DNAJC211Jan 21, 2020
DNAJC301Aug 10, 2020
DNAJC61Aug 10, 2020
DNM1L1Dec 18, 2017
DNMT12Aug 10, 2020
DOK71Aug 10, 2020
DONSON2Dec 18, 2017
DPAGT11Jan 21, 2020
DSP1Jan 21, 2020
DUOX21Jan 21, 2020
DUSP292Jan 21, 2020
DVL11Jan 21, 2020
DYNC1H12Jan 21, 2020
DYNC2H12Jan 21, 2020
DYNLT2B1Jan 28, 2020
DYRK1A2Aug 10, 2020
DYSF1Jan 21, 2020
EARS22Dec 18, 2017
EBF31Aug 10, 2020
EBP1Jan 21, 2020
ECEL11Dec 18, 2017
ECHS18Dec 18, 2017
EDA1Jan 21, 2020
EFNB11Jan 21, 2020
EGR21Jan 21, 2020
EHMT11Aug 10, 2020
EIF2AK31Jan 21, 2020
EIF2B22Jan 21, 2020
EIF2S31Dec 18, 2017
ELAC24Dec 18, 2017
ENG2Aug 10, 2020
ENPP16Jan 21, 2020
ENTPD53Jan 21, 2020
EPCAM1Dec 18, 2017
EPG53Dec 18, 2017
ERCC81Jan 21, 2020
ERF1Aug 10, 2020
ERI11Aug 10, 2020
ETFDH1Dec 18, 2017
ETHE13Dec 18, 2017
EVC2Dec 18, 2017
EXOSC31Dec 18, 2017
EYA12Jan 21, 2020
F81Dec 18, 2017
FA2H3Jan 21, 2020
FAM83H1Dec 18, 2017
FANCA1Dec 18, 2017
FARS24Jan 28, 2020
FARSB5Jun 26, 2018
FBN13Jan 21, 2020
FBXL47Aug 10, 2020
FBXO113Aug 10, 2020
FBXO72Dec 18, 2017
FGF141Aug 10, 2020
FGF235Oct 20, 2017
FGFR11Jan 21, 2020
FGFR21Jan 21, 2020
FGFR31Aug 10, 2020
FH1Aug 10, 2020
FITM21Aug 10, 2020
FKBP141Jan 21, 2020
FKBP14-AS11Jan 21, 2020
FKRP2Jan 21, 2020
FLG1Aug 10, 2020
FLNA2Jan 21, 2020
FLNB2Jan 21, 2020
FOXF11Jan 28, 2020
FOXG14Aug 10, 2020
FOXL21Jan 21, 2020
FOXP11Jan 21, 2020
FOXP21Jan 21, 2020
FOXRED11Dec 18, 2017
FRRS1L1Dec 18, 2017
FUCA12Dec 18, 2017
FUS1Jan 21, 2020
G6PD1Jan 21, 2020
GAA1Dec 18, 2017
GABRA11Jan 21, 2020
GABRA21Aug 10, 2020
GATAD11Dec 18, 2017
GBA3Jan 28, 2020
GCDH3Aug 10, 2020
GCH11Jan 28, 2020
GDAP11Jan 21, 2020
GFAP1Dec 18, 2017
GFM12Jan 21, 2020
GH-LCR3Aug 10, 2020
GHR1Jan 21, 2020
GHRHR1Jan 21, 2020
GJA11Jan 21, 2020
GJB11Jan 21, 2020
GJB21Jan 21, 2020
GLB12Jan 21, 2020
GLDC2Jan 21, 2020
GLDN2Jan 21, 2020
GLMN1Aug 10, 2020
GLRA12Jan 21, 2020
GMPPB1Aug 10, 2020
GNAO13Jan 21, 2020
GNB12Aug 10, 2020
GNB41Dec 18, 2017
GNRHR2Jan 21, 2020
GRIA21Aug 10, 2020
GRID21Dec 18, 2017
GRIN12Jan 21, 2020
GRIN2A2Aug 10, 2020
GRIN2B1Jan 21, 2020
GRN14Aug 10, 2020
GSN2Jan 21, 2020
GSTZ11Jan 21, 2020
GTPBP34Dec 18, 2017
GUCY2D1Dec 18, 2017
H4C31Aug 10, 2020
HBB1Aug 10, 2020
HECW22Jan 21, 2020
HERC21Jan 28, 2020
HEXA2Dec 18, 2017
HIBCH2Dec 18, 2017
HK11Aug 10, 2020
HMBS1Aug 10, 2020
HMGCS22Dec 18, 2017
HNRNPH22Jan 21, 2020
HNRNPU1Aug 10, 2020
HSD11B21Jan 21, 2020
HSD17B102Jan 28, 2020
HSD17B41Jan 28, 2020
HUWE12Jan 21, 2020
IFIH11Jan 21, 2020
IFT1402Jan 28, 2020
IGHMBP21Jan 21, 2020
IGSF11Jan 21, 2020
IL1RAPL11Jan 28, 2020
INF22Aug 10, 2020
IQCG1Jan 21, 2020
IRF2BPL1Aug 10, 2020
ISCA21Dec 18, 2017
ITPA2Jan 21, 2020
ITPR11Jan 21, 2020
JMJD81Aug 10, 2020
KAT6A2Jan 21, 2020
KAT6B4Jan 21, 2020
KCNB11Aug 10, 2020
KCNC11Dec 18, 2017
KCND31Aug 10, 2020
KCNH11Dec 18, 2017
KCNH21Dec 18, 2017
KCNQ23Dec 18, 2017
KCNT11Jan 21, 2020
KDM3B1Aug 10, 2020
KDM6A2Aug 10, 2020
KIAA05861Jan 21, 2020
KIF112Jan 21, 2020
KIF1A3Jan 21, 2020
KIF2A1Jan 21, 2020
KIF5C1Dec 18, 2017
KLHL401Jan 21, 2020
KMT2A3Aug 10, 2020
KMT2B10Aug 10, 2020
KMT2C1Jan 21, 2020
KMT2D8Aug 10, 2020
KPTN1Jan 21, 2020
KRT161Dec 18, 2017
L1CAM1Aug 10, 2020
LAMP21Jan 21, 2020
LDHA1Aug 10, 2020
LDLR2Aug 10, 2020
LIPT22Jan 21, 2020
LMNA1Dec 18, 2017
LMOD31Jan 21, 2020
LMX1B4Aug 10, 2020
LOC1002878961Jan 21, 2020
LOC1019283711Jan 21, 2020
LOC1019297102Jan 21, 2020
LOC1027240582Jan 21, 2020
LOC1053710491Jan 21, 2020
LOC1060990621Aug 10, 2020
LOC1066279812Jan 21, 2020
LOC1067808002Dec 18, 2017
LOC1071335101Aug 10, 2020
LOC1079822341Jan 21, 2020
LPIN11Jan 21, 2020
LRPPRC1Dec 18, 2017
LRRK21Dec 18, 2017
LTBP31Aug 10, 2020
MAFB1Jan 21, 2020
MAG3Aug 10, 2020
MANEAL1Aug 10, 2020
MAP2K11Jan 21, 2020
MAP2K21Jan 21, 2020
MAPK8IP32Aug 10, 2020
MAPT6Jan 21, 2020
MARS13Dec 2, 2014
MASP11Jan 21, 2020
MBTPS12Aug 10, 2020
MC2R4Oct 20, 2017
MEA11Jan 21, 2020
MECP27Aug 10, 2020
MECR2Jan 21, 2020
MED13L2Jan 21, 2020
MEF2C1Dec 18, 2017
MFF-DT15Aug 10, 2020
MFN23Jan 21, 2020
MFSD81Dec 18, 2017
MHRT2Jan 21, 2020
MMAB1Jan 21, 2020
MMACHC2Aug 10, 2020
MMP212Aug 10, 2020
MMUT3Jan 21, 2020
MOGS2Jan 21, 2020
MORC21Jan 21, 2020
MPC11Dec 18, 2017
MPDU11Dec 18, 2017
MPV171Jan 21, 2020
MPZ2Jan 21, 2020
MRAP3Oct 20, 2017
MRE114Aug 10, 2020
MSL32Aug 10, 2020
MTFMT1Dec 18, 2017
MTM12Jan 21, 2020
MTO18Jan 21, 2020
MTOR1Jan 21, 2020
MTRFR1Jan 28, 2020
MVK3Aug 10, 2020
MYBPC32Aug 10, 2020
MYH75Jan 21, 2020
MYLK1Dec 18, 2017
MYO18B1Jan 21, 2020
MYO1E1Jan 21, 2020
MYOT1Jan 21, 2020
MYSM11Jan 21, 2020
NAA101Dec 18, 2017
NAA151Jan 21, 2020
NALCN1Aug 10, 2020
NANS1Jan 21, 2020
NCAPH21Jan 21, 2020
NDUFS43Dec 18, 2017
NDUFS81Dec 18, 2017
NDUFV12Aug 10, 2020
NEB6Jan 28, 2020
NECTIN41Jan 21, 2020
NEFL1Aug 10, 2020
NEXMIF1Aug 10, 2020
NF13Aug 10, 2020
NFIA2Aug 10, 2020
NFIX1Aug 10, 2020
NFKB21Jan 21, 2020
NFU12Dec 18, 2017
NGLY13Jan 21, 2020
NKX2-11Jan 21, 2020
NONO1Jan 21, 2020
NPC13Jan 21, 2020
NPHP3-ACAD111Dec 18, 2017
NPHS12Jan 21, 2020
NPHS25Jan 21, 2020
NPR21Aug 10, 2020
NR0B125Oct 20, 2017
NR2F11Aug 10, 2020
NSD13Jan 21, 2020
NUP2051Jan 21, 2020
NUP371Jan 21, 2020
NUS11Jan 21, 2020
OAT1Jan 21, 2020
OPA31Jan 21, 2020
OSGEP1Aug 10, 2020
OSTM11Dec 18, 2017
PABPN11Jan 21, 2020
PAK11Jan 21, 2020
PANK25Jan 28, 2020
PAPSS21Aug 10, 2020
PAX22Jan 21, 2020
PAX61Aug 10, 2020
PAX71Aug 10, 2020
PBX12Jan 21, 2020
PC1Aug 10, 2020
PCK12Jan 21, 2020
PCSK12Jan 21, 2020
PCYT21Aug 10, 2020
PDE10A2Jan 21, 2020
PDHA110Aug 10, 2020
PDHX1Dec 18, 2017
PEPD2Jan 21, 2020
PEX13Dec 18, 2017
PHEX111Aug 31, 2017
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
PIGN5Jan 21, 2020
PIGP1Jan 21, 2020
PIK3R21Aug 10, 2020
PINK11Jan 21, 2020
PINK1-AS1Jan 21, 2020
PKD13Jan 28, 2020
PKHD17Jan 21, 2020
PLA2G4A1Jan 21, 2020
PLA2G65Jan 21, 2020
PLAA1Jan 21, 2020
PLCE11Jan 28, 2020
PLOD21Jan 21, 2020
PLP11Dec 18, 2017
PLS31Aug 10, 2020
PMFBP11Jan 21, 2020
PNKP2Jan 21, 2020
PNPLA62Jan 21, 2020
POLA11Jan 21, 2020
POLG9Jan 21, 2020
POLR3A4Aug 10, 2020
POMT12Dec 18, 2017
POU3F21Aug 10, 2020
POU3F32Aug 10, 2020
PPP1R12A1Aug 10, 2020
PPP2CA3Aug 10, 2020
PPP2R1A1Dec 18, 2017
PPP2R5D1Jan 21, 2020
PQBP11Jan 21, 2020
PRKACA2Dec 10, 2014
PRKN4Aug 10, 2020
PRPS11Jan 21, 2020
PRRT21Jan 21, 2020
PRUNE12Aug 10, 2020
PSEN13Aug 10, 2020
PSMD121Jan 21, 2020
PTCH12Jan 21, 2020
PTCHD1-AS43Aug 31, 2017
PTEN3Aug 10, 2020
PTPN119Aug 10, 2020
PURA5Aug 10, 2020
PUS71Jan 21, 2020
PYCR11Aug 10, 2020
PYGM1Jan 21, 2020
RAB9B1Dec 18, 2017
RAD212Jan 21, 2020
RAF12Aug 10, 2020
RAI11Jan 21, 2020
RALGAPA15Sep 24, 2019
RARS23Jan 21, 2020
RBCK11Jan 21, 2020
RBP41Aug 10, 2020
REST1Jan 21, 2020
RFT11Jan 21, 2020
RHOBTB22Jan 21, 2020
RIF11Jan 21, 2020
RIT12Jan 21, 2020
RNASEH2B1Aug 10, 2020
RNF2161Jan 28, 2020
RORA1Jan 21, 2020
RORA-AS11Jan 21, 2020
RORB1Jan 21, 2020
RPL35A1Jan 21, 2020
RPL36A-HNRNPH22Jan 21, 2020
RTN4IP11Jan 21, 2020
RYR15Jan 21, 2020
SACS2Jan 21, 2020
SALL12Aug 10, 2020
SATB23Jan 21, 2020
SBDS3Aug 10, 2020
SBF11Jan 21, 2020
SCARB21Jan 21, 2020
SCN1A5Jan 28, 2020
SCN1A-AS11Dec 18, 2017
SCN2A4Jan 21, 2020
SCN4A4Aug 10, 2020
SCN8A2Jan 21, 2020
SCN9A1Dec 18, 2017
SCO21Jan 21, 2020
SCP21Dec 18, 2017
SDR9C73Jan 21, 2020
SERAC11Dec 18, 2017
SET1Jan 21, 2020
SETBP11Jan 21, 2020
SETD1A1Aug 10, 2020
SETD1B1Aug 10, 2020
SETD21Aug 10, 2020
SETD53Aug 10, 2020
SETX3Jan 21, 2020
SFTA31Jan 21, 2020
SFXN42Dec 18, 2017
SGCA2Jan 21, 2020
SGCE9Aug 10, 2020
SH3TC22Jan 28, 2020
SHANK31Jan 21, 2020
SHH1Aug 10, 2020
SLC12A31Dec 18, 2017
SLC13A53Aug 10, 2020
SLC19A31Dec 18, 2017
SLC25A122Jan 28, 2020
SLC25A191Dec 18, 2017
SLC25A41Dec 18, 2017
SLC25A422Aug 10, 2020
SLC25A461Dec 18, 2017
SLC26A31Aug 10, 2020
SLC2A14Jan 21, 2020
SLC34A312Oct 20, 2017
SLC35C11Aug 10, 2020
SLC37A42Dec 18, 2017
SLC6A11Jan 21, 2020
SLC6A1-AS11Jan 21, 2020
SLC6A31Jan 21, 2020
SLC6A82Aug 10, 2020
SLC9A61Jan 21, 2020
SMAD41Aug 10, 2020
SMARCA43Jan 21, 2020
SMARCB11Dec 18, 2017
SMARCC21Jan 21, 2020
SMC1A2Jan 21, 2020
SOD11Jan 21, 2020
SON1Jan 21, 2020
SOX111Jan 21, 2020
SOX51Jan 21, 2020
SOX92Dec 18, 2017
SPAST7Jan 21, 2020
SPATA54Dec 18, 2017
SPATA5L17Aug 10, 2020
SPG112Jan 21, 2020
SPG73Jan 21, 2020
SPR1Jan 21, 2020
SPTBN22Jan 21, 2020
SSR41Aug 10, 2020
SSUH21Aug 10, 2020
STAG22Jan 21, 2020
STEEP11Aug 10, 2020
STUB11Aug 10, 2020
STX1B2Jan 21, 2020
STXBP13Aug 10, 2020
SUMF11Dec 18, 2017
SURF12Jan 21, 2020
SUZ121Aug 10, 2020
SYNE13Jan 21, 2020
SYNGAP11Jan 21, 2020
TAB23Aug 10, 2020
TARDBP1Jan 21, 2020
TASP11Jun 5, 2019
TAZ2Jan 21, 2020
TBC1D242Jan 21, 2020
TBC1D71Dec 18, 2017
TBC1D7-LOC1001303571Dec 18, 2017
TBCD6Aug 10, 2020
TBCK2Jan 21, 2020
TBK16Jan 28, 2020
TBL1XR12Aug 10, 2020
TBR12Jan 21, 2020
TBX11Dec 18, 2017
TBX192Jan 21, 2020
TBX41Jan 21, 2020
TBX51Dec 18, 2017
TCF202Aug 10, 2020
TCF43Jan 21, 2020
TCOF11Jan 21, 2020
TFAP2A1Jan 21, 2020
TFAP2A-AS21Jan 21, 2020
TGFBI1Jan 21, 2020
TGFBR11Dec 18, 2017
TGFBR21Jan 21, 2020
TH2Jan 21, 2020
THAP12Jan 21, 2020
THOC21Jan 21, 2020
THOC61Aug 10, 2020
TIMM502Dec 18, 2017
TIMMDC11Jan 21, 2020
TLK21Jan 21, 2020
TMEM672Jan 21, 2020
TMEM703Jan 21, 2020
TNFRSF13B1Aug 10, 2020
TNNI32Aug 10, 2020
TNNT21Jan 21, 2020
TNR8Jul 26, 2019
TOR1A1Aug 10, 2020
TP631Jan 21, 2020
TPK12Dec 18, 2017
TPP12Dec 18, 2017
TRAPPC111Dec 18, 2017
TRIM141Jan 21, 2020
TRIO2Jan 21, 2020
TRMU3Jan 21, 2020
TRPS11Jan 21, 2020
TRPV41Jan 21, 2020
TSC11Jan 21, 2020
TSC21Jan 21, 2020
TTC191Aug 10, 2020
TTN1Aug 10, 2020
TTN-AS11Aug 10, 2020
TUBA1A1Dec 18, 2017
TUBB2Aug 10, 2020
TUBB2A2Jan 21, 2020
TUBB4A3Jan 21, 2020
TUFM1Dec 18, 2017
TWNK2Dec 18, 2017
TXNL4A9Dec 2, 2014
UBA51Dec 18, 2017
UBE3B2Dec 18, 2017
UBTF1Aug 10, 2020
UMOD3Jan 21, 2020
UNC801Dec 18, 2017
UPF3B2Jan 21, 2020
UQCRFS13Mar 5, 2019
USP85Nov 18, 2014
USP9X1Dec 18, 2017
VARS13Aug 10, 2020
VARS24Dec 18, 2017
VPS13B2Jan 28, 2020
VPS13D2Jan 21, 2020
VPS161Aug 10, 2020
VWF1Aug 10, 2020
WARS26Aug 10, 2020
WARS2-AS11Aug 10, 2020
WDR454Aug 10, 2020
WDR732Jan 21, 2020
WFS13Jan 21, 2020
WNT10A1Jan 21, 2020
WRN1Jan 21, 2020
WT12Aug 10, 2020
WWOX1Jan 28, 2020
YARS21Dec 18, 2017
YWHAG1Jan 21, 2020
YY12Aug 10, 2020
YY1AP12Aug 10, 2020
ZBTB181Jan 21, 2020
ZC4H21Jan 21, 2020
ZDHHC242Jan 21, 2020
ZEB24Jan 21, 2020
ZMYND111Jan 28, 2020
ZNF1424Jan 21, 2020
ZNF1482Jan 21, 2020

Condition

NameSubmissionsLast Updated
22q13.3 deletion syndrome1Jan 21, 2020
3-Methylglutaconic aciduria type 22Jan 21, 2020
3-Methylglutaconic aciduria type 31Jan 21, 2020
3-methylglutaconic aciduria type 92Dec 18, 2017
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Dec 18, 2017
3MC syndrome 11Jan 21, 2020
ACTH resistance7Oct 20, 2017
AFF3-associated disorder1Aug 10, 2020
AGO1-associated disorder1Aug 10, 2020
ATP5G3-associated disorder1Aug 10, 2020
Achondrogenesis type II1Dec 18, 2017
Acromesomelic dysplasia, Maroteaux type1Aug 10, 2020
Acromicric dysplasia1Dec 18, 2017
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins3Jan 21, 2020
Acute intermittent porphyria1Aug 10, 2020
Adenylosuccinate lyase deficiency1Jan 21, 2020
Adrenocorticotropic hormone deficiency2Jan 21, 2020
Aicardi Goutieres syndrome 21Aug 10, 2020
Aicardi-Goutieres syndrome 62Dec 18, 2017
Aicardi-Goutieres syndrome 71Jan 21, 2020
Aldosterone-producing adrenal cortex adenoma6Dec 10, 2014
Alexander Disease1Dec 18, 2017
Alport syndrome 1, X-linked recessive36Aug 10, 2020
Alport syndrome, autosomal recessive19Aug 10, 2020
Alternating hemiplegia of childhood 22Jan 21, 2020
Alzheimer disease, type 33Aug 10, 2020
Amelogenesis imperfecta, hypocalcification type1Dec 18, 2017
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia1Jan 21, 2020
Amyotrophic lateral sclerosis type 11Jan 21, 2020
Amyotrophic lateral sclerosis type 101Jan 21, 2020
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Jan 21, 2020
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps1Jan 21, 2020
Aniridia 11Aug 10, 2020
Aortic aneurysm, familial thoracic 71Dec 18, 2017
Apparent mineralocorticoid excess1Jan 21, 2020
Arterial calcification, generalized, of infancy, 12Jan 21, 2020
Ataxia-telangiectasia syndrome10Jan 21, 2020
Ataxia-telangiectasia-like disorder 14Aug 10, 2020
Autism 52Jan 21, 2020
Autism, susceptibility to, 182Jan 21, 2020
Autosomal dominant hypophosphatemic rickets2Oct 20, 2017
Autosomal dominant medullary cystic kidney disease with hyperuricemia1Jan 21, 2020
Autosomal recessive DOPA responsive dystonia2Jan 21, 2020
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 hypophosphatemic bone disease12Oct 20, 2017
Autosomal recessive hypophosphatemic vitamin D refractory rickets2Oct 20, 2017
Autosomal recessive limb-girdle muscular dystrophy type 2B1Jan 21, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2D2Jan 21, 2020
Autosomal recessive osteopetrosis 41Jan 21, 2020
Autosomal recessive polycystic kidney disease7Jan 21, 2020
Avellino corneal dystrophy1Jan 21, 2020
Axial spondylometaphyseal dysplasia1Aug 10, 2020
Bainbridge-Ropers syndrome3Jan 21, 2020
Baraitser-Winter Syndrome 21Jan 21, 2020
Baraitser-Winter syndrome 14Aug 10, 2020
Bardet-Biedl syndrome 12Jan 21, 2020
Bardet-Biedl syndrome 102Aug 10, 2020
Bardet-Biedl syndrome 122Dec 18, 2017
Basilicata-Akhtar syndrome2Aug 10, 2020
Beaulieu-Boycott-Innes syndrome1Aug 10, 2020
Becker muscular dystrophy2Aug 10, 2020
Benign familial hematuria1Aug 10, 2020
Benign familial neonatal seizures 11Dec 18, 2017
Benign hereditary chorea1Jan 21, 2020
Beta-hydroxyisobutyryl-CoA deacylase deficiency2Dec 18, 2017
Bethlem myopathy 11Jan 21, 2020
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 inversus1Jan 21, 2020
Bohring-Opitz syndrome2Jan 21, 2020
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
Brain malformations and urinary tract defects2Aug 10, 2020
Brain small vessel disease 1 with or without ocular anomalies2Aug 10, 2020
Branchiooculofacial syndrome1Jan 21, 2020
Branchiootic syndrome 11Jan 21, 2020
Branchiootorenal Syndrome 11Jan 21, 2020
Bruck syndrome 21Jan 21, 2020
Burn-McKeown syndrome9Dec 2, 2014
CHARGE association4Dec 18, 2017
CSDE1-associated disorder1Aug 10, 2020
Camptomelic dysplasia2Dec 18, 2017
Carbonic anhydrase VA deficiency, hyperammonemia due to1Jan 28, 2020
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency1Jan 21, 2020
Cardiofaciocutaneous syndrome 12Dec 18, 2017
Cardiofaciocutaneous syndrome 31Jan 21, 2020
Cardiofaciocutaneous syndrome 41Jan 21, 2020
Cardiomyopathy3Mar 5, 2019
Carnitine palmitoyltransferase II deficiency, infantile1Aug 10, 2020
Cataract, autosomal dominant1Jan 21, 2020
Central core myopathy1Jan 21, 2020
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant2Aug 10, 2020
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 41Aug 10, 2020
Cerebellar ataxia, nonprogressive, with mental retardation1Aug 10, 2020
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome2Aug 10, 2020
Cerebral calcification5Jun 26, 2018
Ceroid lipofuscinosis neuronal 22Dec 18, 2017
Ceroid lipofuscinosis, neuronal, 131Jan 21, 2020
Charcot-Marie-Tooth Neuropathy X Type 11Jan 21, 2020
Charcot-Marie-Tooth disease axonal type 2C1Jan 21, 2020
Charcot-Marie-Tooth disease type 2I1Jan 21, 2020
Charcot-Marie-Tooth disease, axonal, type 2z1Jan 21, 2020
Charcot-Marie-Tooth disease, demyelinating, type 1f1Aug 10, 2020
Charcot-Marie-Tooth disease, dominant intermediate E1Aug 10, 2020
Charcot-Marie-Tooth disease, dominant intermediate F1Dec 18, 2017
Charcot-Marie-Tooth disease, recessive intermediate A1Jan 21, 2020
Charcot-Marie-Tooth disease, type 2A2A1Jan 21, 2020
Charcot-Marie-Tooth disease, type 4B31Jan 21, 2020
Charcot-Marie-Tooth disease, type 4C2Jan 28, 2020
Charcot-marie-tooth disease, axonal, type 2ee1Jan 21, 2020
Charlevoix-Saguenay spastic ataxia2Jan 21, 2020
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Aug 10, 2020
Chondrodysplasia punctata 2 X-linked dominant1Jan 21, 2020
Christianson syndrome1Jan 21, 2020
Chromosome 2q32-q33 deletion syndrome3Jan 21, 2020
Chromosome Xq28 deletion syndrome1Jan 21, 2020
Ciliary dyskinesia, primary, 381Jan 21, 2020
Ciliary dyskinesia, primary, 72Jan 21, 2020
Cirrhosis of liver5Jun 26, 2018
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2Dec 18, 2017
Cobalamin C disease2Aug 10, 2020
Cockayne syndrome type A1Jan 21, 2020
Coenzyme Q10 deficiency, primary 13Jan 21, 2020
Coenzyme Q10 deficiency, primary, 43Jan 21, 2020
Coenzyme Q10 deficiency, primary, 51Apr 21, 2015
Coenzyme Q10 deficiency, primary, 63Jan 21, 2020
Coenzyme Q10 deficiency, primary, 73Jan 21, 2020
Coffin-Siris syndrome 15Aug 10, 2020
Coffin-Siris syndrome 62Aug 10, 2020
Coffin-Siris syndrome 81Jan 21, 2020
Cognitive impairment with or without cerebellar ataxia1Jan 21, 2020
Cohen syndrome2Jan 28, 2020
Combined oxidative phosphorylation deficiency 12Jan 21, 2020
Combined oxidative phosphorylation deficiency 108Jan 21, 2020
Combined oxidative phosphorylation deficiency 122Dec 18, 2017
Combined oxidative phosphorylation deficiency 144Jan 28, 2020
Combined oxidative phosphorylation deficiency 151Dec 18, 2017
Combined oxidative phosphorylation deficiency 174Dec 18, 2017
Combined oxidative phosphorylation deficiency 182Dec 18, 2017
Combined oxidative phosphorylation deficiency 204Dec 18, 2017
Combined oxidative phosphorylation deficiency 234Dec 18, 2017
Combined oxidative phosphorylation deficiency 41Dec 18, 2017
Combined oxidative phosphorylation deficiency 71Jan 28, 2020
Combined oxidative phosphorylation deficiency 86Jan 21, 2020
Common variable immunodeficiency 101Jan 21, 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 contractures of the limbs and face, hypotonia, and developmental delay1Aug 10, 2020
Congenital disorder of deglycosylation3Jan 21, 2020
Congenital disorder of glycosylation type 1N1Jan 21, 2020
Congenital disorder of glycosylation type 1y1Aug 10, 2020
Congenital disorder of glycosylation type 2B2Jan 21, 2020
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 hyperammonemia, type I1Dec 18, 2017
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1Dec 18, 2017
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B12Dec 18, 2017
Congenital muscular hypertrophy-cerebral syndrome2Jan 21, 2020
Congenital myasthenic syndrome 4C2Jan 21, 2020
Congenital myasthenic syndrome, acetazolamide-responsive2Jan 21, 2020
Congenital myopathy with fiber type disproportion1Jan 21, 2020
Congenital myotonia, autosomal recessive form2Jan 21, 2020
Congenital secretory diarrhea, chloride type1Aug 10, 2020
Cornelia de Lange syndrome 42Jan 21, 2020
Cortical dysplasia, complex, with other brain malformations 21Dec 18, 2017
Cortical dysplasia, complex, with other brain malformations 31Jan 21, 2020
Cortical dysplasia, complex, with other brain malformations 52Jan 21, 2020
Cortical dysplasia, complex, with other brain malformations 62Aug 10, 2020
Cowden syndrome 12Aug 10, 2020
Coxopodopatellar syndrome1Jan 21, 2020
Craniofrontonasal syndrome1Jan 21, 2020
Craniosynostosis 41Aug 10, 2020
Creatine transporter deficiency2Aug 10, 2020
Crouzon syndrome1Jan 21, 2020
Cutis laxa, X-linked1Aug 10, 2020
Cutis laxa, autosomal recessive IIIA2Jan 21, 2020
Cystic fibrosis2Jan 21, 2020
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder1Jan 21, 2020
DNAJC30-associated disorder1Aug 10, 2020
DOORS syndrome2Jan 21, 2020
DPAGT1-CDG1Jan 21, 2020
Danon disease1Jan 21, 2020
Deafness, autosomal dominant 201Jan 21, 2020
Deafness, autosomal recessive 1A1Jan 21, 2020
Deficiency of aromatic-L-amino-acid decarboxylase1Jan 21, 2020
Dejerine-Sottas disease2Jan 21, 2020
Dent disease type 12Jan 21, 2020
Desmosterolosis2Jan 21, 2020
Developmental and epileptic encephalopathy, 561Jan 21, 2020
Developmental and epileptic encephalopathy, 642Jan 21, 2020
Developmental and epileptic encephalopathy, 654Aug 10, 2020
Developmental and epileptic encephalopathy, 691Aug 10, 2020
Developmental and epileptic encephalopathy, 781Aug 10, 2020
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 variable intellectual impairment and behavioral abnormalities2Aug 10, 2020
Developmental malformations-deafness-dystonia syndrome1Jan 21, 2020
Diamond-Blackfan anemia 51Jan 21, 2020
Diarrhea 5, with tufting enteropathy, congenital1Dec 18, 2017
Diets-Jongmans syndrome1Aug 10, 2020
Dilatation5Jun 26, 2018
Dilated cardiomyopathy 1S2Jan 21, 2020
Dilated cardiomyopathy 3B1Dec 18, 2017
Dilated cardiomyopathy with woolly hair and keratoderma1Jan 21, 2020
Distal arthrogryposis type 5D1Dec 18, 2017
Distal myopathy, Tateyama type1Aug 10, 2020
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Jan 21, 2020
Drash syndrome1Jan 21, 2020
Dyskinesia, familial, with facial myokymia4Jan 21, 2020
Dyskinesia, limb and orofacial, infantile-onset1Jan 21, 2020
Dystonia 11Aug 10, 2020
Dystonia 123Jan 21, 2020
Dystonia 242Jan 21, 2020
Dystonia 28, childhood-onset10Aug 10, 2020
Dystonia 51Jan 28, 2020
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities2Jan 21, 2020
ERI1-associated disorder1Aug 10, 2020
Early infantile epileptic encephalopathy 102Jan 21, 2020
Early infantile epileptic encephalopathy 114Jan 21, 2020
Early infantile epileptic encephalopathy 131Dec 18, 2017
Early infantile epileptic encephalopathy 141Jan 21, 2020
Early infantile epileptic encephalopathy 171Dec 18, 2017
Early infantile epileptic encephalopathy 22Dec 18, 2017
Early infantile epileptic encephalopathy 43Aug 10, 2020
Early infantile epileptic encephalopathy 551Jan 21, 2020
Early infantile epileptic encephalopathy 72Dec 18, 2017
Ectodermal dysplasia-syndactyly syndrome 11Jan 21, 2020
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1Jan 21, 2020
Ellis-van Creveld syndrome2Dec 18, 2017
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Dec 18, 2017
Encephalopathy due to defective mitochondrial and peroxisomal fission 11Dec 18, 2017
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2Jan 21, 2020
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum6Aug 10, 2020
Epilepsy, early-onset, with or without developmental delay1Aug 10, 2020
Epilepsy, focal, with speech disorder and with or without mental retardation2Aug 10, 2020
Epilepsy, hearing loss, and mental retardation syndrome4Dec 18, 2017
Epilepsy, idiopathic generalized, susceptibility to, 151Jan 21, 2020
Epilepsy, progressive myoclonic 4, with or without renal failure1Jan 21, 2020
Epilepsy, progressive myoclonic 71Dec 18, 2017
Epileptic encephalopathy, childhood-onset1Jan 21, 2020
Epileptic encephalopathy, early infantile, 191Jan 21, 2020
Epileptic encephalopathy, early infantile, 253Aug 10, 2020
Epileptic encephalopathy, early infantile, 261Aug 10, 2020
Epileptic encephalopathy, early infantile, 281Jan 28, 2020
Epileptic encephalopathy, early infantile, 292Aug 10, 2020
Epileptic encephalopathy, early infantile, 352Jan 21, 2020
Epileptic encephalopathy, early infantile, 371Dec 18, 2017
Epileptic encephalopathy, early infantile, 422Aug 10, 2020
Epileptic encephalopathy, early infantile, 441Dec 18, 2017
Epileptic encephalopathy, early infantile, 503Dec 18, 2017
Epileptic encephalopathy, early infantile, 541Aug 10, 2020
Epiphyseal dysplasia, multiple, 31Dec 18, 2017
Episodic ataxia type 21Jan 21, 2020
Erythrokeratodermia variabilis et progressiva 31Jan 21, 2020
Ethylmalonic encephalopathy3Dec 18, 2017
Familial X-linked hypophosphatemic vitamin D refractory rickets111Aug 31, 2017
Familial adenomatous polyposis 11Aug 10, 2020
Familial hypercholesterolemia 12Aug 10, 2020
Familial hypercholesterolemia 21Aug 10, 2020
Familial hypertrophic cardiomyopathy 11Jan 21, 2020
Familial hypertrophic cardiomyopathy 41Jan 21, 2020
Familial hypertrophic cardiomyopathy 71Dec 18, 2017
Familial hypokalemia-hypomagnesemia1Dec 18, 2017
Familial juvenile gout1Dec 18, 2017
Familial restrictive cardiomyopathy 11Aug 10, 2020
Fanconi anemia, complementation group A1Dec 18, 2017
Feeding difficulties5Sep 24, 2019
Fibrochondrogenesis 21Jan 21, 2020
Fibromatosis, gingival, 51Jan 21, 2020
Finnish congenital nephrotic syndrome2Jan 21, 2020
Focal segmental glomerulosclerosis 51Jan 21, 2020
Focal segmental glomerulosclerosis 61Jan 21, 2020
Focal segmental glomerulosclerosis 71Jan 21, 2020
Frasier syndrome1Aug 10, 2020
Frontotemporal dementia6Jan 21, 2020
Frontotemporal dementia and/or amyotrophic lateral sclerosis 46Jan 28, 2020
Fucosidosis2Dec 18, 2017
GLUT1 deficiency syndrome 14Jan 21, 2020
GM1 gangliosidosis type 22Jan 21, 2020
GRACILE syndrome1Dec 18, 2017
Gabriele de Vries syndrome2Aug 10, 2020
Galloway-Mowat syndrome 12Jan 21, 2020
Galloway-Mowat syndrome 31Aug 10, 2020
Geleophysic dysplasia 31Aug 10, 2020
Generalized epilepsy with febrile seizures plus, type 23Jan 21, 2020
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 delay1Jun 5, 2019
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies2Jan 21, 2020
Glomerulocystic kidney disease with hyperuricemia and isosthenuria1Jan 21, 2020
Glomuvenous malformations1Aug 10, 2020
Glucose-6-phosphate transport defect2Dec 18, 2017
Glutaric aciduria, type 13Aug 10, 2020
Glycogen storage disease XI1Aug 10, 2020
Glycogen storage disease type III2Aug 10, 2020
Glycogen storage disease type IXa12Jan 21, 2020
Glycogen storage disease, type II1Dec 18, 2017
Glycogen storage disease, type V1Jan 21, 2020
Gordon Holmes syndrome1Jan 28, 2020
Gorlin syndrome2Jan 21, 2020
Grange syndrome2Aug 10, 2020
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions14Aug 10, 2020
HIST1H4C-associated disorder1Aug 10, 2020
HSD10 disease2Jan 28, 2020
Harel-Yoon syndrome1Aug 10, 2020
Hereditary factor VIII deficiency disease1Dec 18, 2017
Hereditary hemorrhagic telangiectasia type 12Aug 10, 2020
Hereditary leiomyomatosis and renal cell cancer1Aug 10, 2020
Hereditary motor and sensory neuropathy with optic atrophy2Jan 21, 2020
Hereditary spastic paraplegia 21Dec 18, 2017
Hereditary spastic paraplegia 392Jan 21, 2020
Hereditary spastic paraplegia 3A1Jan 21, 2020
Hereditary spastic paraplegia 5A2Jan 21, 2020
Hereditary spastic paraplegia 73Jan 21, 2020
Heterotaxy, visceral, 7, autosomal2Aug 10, 2020
Holoprosencephaly 31Aug 10, 2020
Holt-Oram syndrome1Dec 18, 2017
Hyperaldosteronism, familial, type II1Dec 22, 2017
Hyperekplexia 12Jan 21, 2020
Hyperinsulinemic hypoglycemia, familial, 11Jan 21, 2020
Hyperphosphatemic familial tumoral calcinosis 13Oct 20, 2017
Hypertrichotic osteochondrodysplasia Cantu type1Aug 10, 2020
Hypogonadotropic hypogonadism 2 with or without anosmia1Jan 21, 2020
Hypogonadotropic hypogonadism 7 with or without anosmia2Jan 21, 2020
Hypohidrotic X-linked ectodermal dysplasia1Jan 21, 2020
Hypomagnesemia, seizures, and mental retardation 11Dec 18, 2017
Hypomyelinating leukodystrophy 74Aug 10, 2020
Hypomyelination, global cerebral2Jan 28, 2020
Hypophosphatemic rickets, autosomal recessive, 24Oct 20, 2017
Hypothyroidism, central, and testicular enlargement1Jan 21, 2020
Hypotonia, ataxia, and delayed development syndrome1Aug 10, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21Dec 18, 2017
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32Jan 21, 2020
Ichthyosis vulgaris1Aug 10, 2020
Ichthyosis, congenital, autosomal recessive 133Jan 21, 2020
Idiopathic nephrotic syndrome5Jan 21, 2020
Imagawa-Matsumoto syndrome1Aug 10, 2020
Immunoglobulin A deficiency 21Aug 10, 2020
Indifference to pain, congenital, autosomal recessive1Dec 18, 2017
Infantile neuroaxonal dystrophy3Jan 21, 2020
Infantile onset spinocerebellar ataxia2Dec 18, 2017
Infantile spasms5Sep 24, 2019
Infantile-onset ascending hereditary spastic paralysis3Jan 21, 2020
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature1Jan 21, 2020
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities3Aug 10, 2020
Intellectual developmental disorder with hypotonia and behavioral abnormalities1Aug 10, 2020
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 abnormalities4Aug 10, 2020
Intellectual disability, X-linked 211Jan 28, 2020
Intellectual disability, autosomal dominant 501Jan 21, 2020
Intellectual disability, autosomal dominant 55, with seizures1Jan 21, 2020
Intellectual disability, autosomal dominant 91Jan 21, 2020
Intellectual disability, x-linked 1071Aug 10, 2020
Intellectual disability-developmental delay-contractures syndrome1Jan 21, 2020
Interstitial pneumonitis5Jun 26, 2018
Intrinsic factor deficiency1Jan 21, 2020
Isolated growth hormone deficiency, type 41Jan 21, 2020
Joubert syndrome 172Aug 10, 2020
Joubert syndrome 231Jan 21, 2020
Joubert syndrome 332Jan 21, 2020
Joubert syndrome 52Jan 21, 2020
Juvenile primary lateral sclerosis2Jan 21, 2020
KBG syndrome5Aug 10, 2020
Kabuki syndrome 18Aug 10, 2020
Kabuki syndrome 22Aug 10, 2020
Kartagener syndrome2Jan 21, 2020
Kaufman oculocerebrofacial syndrome2Dec 18, 2017
Keratosis follicularis1Jan 21, 2020
Kleefstra syndrome 11Aug 10, 2020
Kleefstra syndrome 21Jan 21, 2020
Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism1Jan 21, 2020
Lactic acidosis3Mar 5, 2019
Lamb-shaffer syndrome1Jan 21, 2020
Laron-type isolated somatotropin defect1Jan 21, 2020
Left ventricular noncompaction 101Aug 10, 2020
Left ventricular noncompaction 61Jan 21, 2020
Leigh syndrome5Jan 21, 2020
Lethal congenital contracture syndrome 112Jan 21, 2020
Leukocyte adhesion deficiency type II1Aug 10, 2020
Leukodystrophy, hypomyelinating, 63Jan 21, 2020
Leukoencephalopathy with ataxia1Jan 28, 2020
Leukoencephalopathy with dystonia and motor neuropathy1Dec 18, 2017
Leukoencephalopathy with vanishing white matter2Jan 21, 2020
Limb-girdle muscular dystrophy, type 2L1Jan 21, 2020
Limb-girdle muscular dystrophy, type 2S1Dec 18, 2017
Limb-girdle muscular dystrophy-dystroglycanopathy, type C52Jan 21, 2020
Lissencephaly 31Dec 18, 2017
Loeys-Dietz syndrome 11Dec 18, 2017
Loeys-Dietz syndrome 21Jan 21, 2020
Long QT syndrome 152Jan 21, 2020
Long QT syndrome 21Dec 18, 2017
Luscan-lumish syndrome1Aug 10, 2020
MANEAL-associated disorder1Aug 10, 2020
MEHMO syndrome1Dec 18, 2017
MPDU1-CDG1Dec 18, 2017
Macrocephalus1Dec 18, 2017
Macrocephaly/autism syndrome1Jan 21, 2020
Maleylacetoacetate isomerase deficiency1Jan 21, 2020
Marfan syndrome2Jan 21, 2020
Meckel syndrome, type 32Jan 21, 2020
Medium-chain acyl-coenzyme A dehydrogenase deficiency2Jan 21, 2020
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 11Aug 10, 2020
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21Jan 21, 2020
Mental retardation 49, X-linked1Jan 21, 2020
Mental retardation and distinctive facial features with or without cardiac defects2Jan 21, 2020
Mental retardation with language impairment and with or without autistic features1Jan 21, 2020
Mental retardation, X-linked 1024Aug 10, 2020
Mental retardation, X-linked 121Jan 21, 2020
Mental retardation, X-linked 981Aug 10, 2020
Mental retardation, X-linked 99, syndromic, female-restricted1Dec 18, 2017
Mental retardation, X-linked, syndromic 341Jan 21, 2020
Mental retardation, X-linked, syndromic, Bain type2Jan 21, 2020
Mental retardation, autosomal dominant 131Dec 18, 2017
Mental retardation, autosomal dominant 151Dec 18, 2017
Mental retardation, autosomal dominant 163Jan 21, 2020
Mental retardation, autosomal dominant 192Jan 21, 2020
Mental retardation, autosomal dominant 212Aug 10, 2020
Mental retardation, autosomal dominant 221Jan 21, 2020
Mental retardation, autosomal dominant 233Aug 10, 2020
Mental retardation, autosomal dominant 263Jan 21, 2020
Mental retardation, autosomal dominant 271Jan 21, 2020
Mental retardation, autosomal dominant 291Jan 21, 2020
Mental retardation, autosomal dominant 301Jan 28, 2020
Mental retardation, autosomal dominant 315Aug 10, 2020
Mental retardation, autosomal dominant 322Jan 21, 2020
Mental retardation, autosomal dominant 351Jan 21, 2020
Mental retardation, autosomal dominant 361Dec 18, 2017
Mental retardation, autosomal dominant 401Jan 21, 2020
Mental retardation, autosomal dominant 412Aug 10, 2020
Mental retardation, autosomal dominant 422Aug 10, 2020
Mental retardation, autosomal dominant 442Jan 21, 2020
Mental retardation, autosomal dominant 51Jan 21, 2020
Mental retardation, autosomal dominant 571Jan 21, 2020
Mental retardation, autosomal dominant 581Jan 21, 2020
Mental retardation, autosomal dominant 61Jan 21, 2020
Mental retardation, autosomal dominant 72Aug 10, 2020
Mental retardation, autosomal recessive 381Jan 28, 2020
Mental retardation, autosomal recessive 411Jan 21, 2020
Mental retardation, autosomal recessive 532Jan 21, 2020
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1Dec 18, 2017
Mental retardation, syndromic 14, X-linked2Jan 21, 2020
Meretoja syndrome2Jan 21, 2020
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression2Aug 10, 2020
Metachromatic leukodystrophy4Jan 21, 2020
Methylmalonic acidemia with homocystinuria, type cblJ2Aug 10, 2020
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency3Jan 21, 2020
Mevalonic aciduria3Aug 10, 2020
Microcephaly 24, primary, autosomal recessive1Jan 21, 2020
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation2Jan 21, 2020
Microcephaly, short stature, and limb abnormalities2Dec 18, 2017
Minicore myopathy with external ophthalmoplegia4Jan 21, 2020
Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive1Dec 18, 2017
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)7Aug 10, 2020
Mitochondrial DNA-depletion syndrome 3, hepatocerebral2Dec 18, 2017
Mitochondrial complex 1 deficiency, nuclear type 311Jan 21, 2020
Mitochondrial complex 1 deficiency, nuclear type 42Aug 10, 2020
Mitochondrial complex I deficiency2Dec 18, 2017
Mitochondrial complex III deficiency, nuclear type 21Aug 10, 2020
Mitochondrial complex IV deficiency2Jan 21, 2020
Mitochondrial pyruvate carrier deficiency1Dec 18, 2017
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency8Dec 18, 2017
Miyoshi muscular dystrophy 33Aug 10, 2020
Mowat-Wilson syndrome4Jan 21, 2020
Mullegama-Klein-Martinez syndrome2Jan 21, 2020
Multicentric carpo-tarsal osteolysis with or without nephropathy1Jan 21, 2020
Multiple acyl-CoA dehydrogenase deficiency1Dec 18, 2017
Multiple congenital anomalies-hypotonia-seizures syndrome 15Jan 21, 2020
Multiple congenital anomalies-hypotonia-seizures syndrome 22Jan 21, 2020
Multiple epiphyseal dysplasia 11Jan 21, 2020
Multiple mitochondrial dysfunctions syndrome 12Dec 18, 2017
Multiple mitochondrial dysfunctions syndrome 41Dec 18, 2017
Multiple sulfatase deficiency1Dec 18, 2017
Multisystemic smooth muscle dysfunction syndrome1Aug 10, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111Dec 18, 2017
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 141Aug 10, 2020
Myasthenia, limb-girdle, familial1Aug 10, 2020
Myasthenic syndrome, congenital, 191Dec 18, 2017
Myhre syndrome1Aug 10, 2020
Myoclonic dystonia 119Aug 10, 2020
Myoclonic-atonic epilepsy1Jan 21, 2020
Myofibrillar myopathy 11Jan 21, 2020
Myofibrillar myopathy 31Jan 21, 2020
Myoglobinuria, acute recurrent, autosomal recessive1Jan 21, 2020
Myopathy, congenital, progressive, with scoliosis1Aug 10, 2020
Myopathy, distal, 12Dec 18, 2017
N-terminal acetyltransferase deficiency1Dec 18, 2017
Nail-patella syndrome4Aug 10, 2020
Nemaline myopathy 101Jan 21, 2020
Nemaline myopathy 26Jan 28, 2020
Nemaline myopathy 32Jan 21, 2020
Nemaline myopathy 81Jan 21, 2020
Nephrotic syndrome, type 131Jan 21, 2020
Nephrotic syndrome, type 31Jan 28, 2020
Nephrotic syndrome, type 71Jan 21, 2020
Nephrotic syndrome, type 91Jan 21, 2020
Neurodegeneration with brain iron accumulation 2b2Jan 21, 2020
Neurodegeneration with brain iron accumulation 42Aug 10, 2020
Neurodegeneration with brain iron accumulation 54Aug 10, 2020
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures2Jan 21, 2020
Neurodevelopmental disorder and language delay with or without structural brain abnormalities3Aug 10, 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 movements2Jan 21, 2020
Neurodevelopmental disorder with language impairment and behavioral abnormalities1Aug 10, 2020
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies2Aug 10, 2020
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy3Aug 10, 2020
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant2Jan 21, 2020
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA2Aug 10, 2020
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 visual defects and brain anomalies1Aug 10, 2020
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures6Aug 10, 2020
Neurofibromatosis, type 13Aug 10, 2020
Neuronal ceroid lipofuscinosis 32Jan 28, 2020
Neuronal ceroid lipofuscinosis 71Dec 18, 2017
Neuropathy, hereditary motor and sensory, type 6B1Dec 18, 2017
Niemann-Pick disease type C13Jan 21, 2020
Non-ketotic hyperglycinemia2Jan 21, 2020
Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus8Jul 26, 2019
Noonan syndrome 19Aug 10, 2020
Noonan syndrome 52Aug 10, 2020
Noonan syndrome 82Jan 21, 2020
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1Jan 21, 2020
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 23Jan 21, 2020
Oculopharyngeal muscular dystrophy1Jan 21, 2020
Odonto-onycho-dermal dysplasia1Jan 21, 2020
Okur-chung neurodevelopmental syndrome1Aug 10, 2020
Optic atrophy 10 with or without ataxia, mental retardation, and seizures1Jan 21, 2020
Ornithine aminotransferase deficiency1Jan 21, 2020
Osteogenesis imperfecta type I1Jan 21, 2020
Osteogenesis imperfecta with normal sclerae, dominant form1Jan 21, 2020
Osteopetrosis, autosomal recessive 51Dec 18, 2017
Oto-palato-digital syndrome, type I1Jan 21, 2020
POU3F2-associated disorder1Aug 10, 2020
Pachyonychia congenita 11Dec 18, 2017
Paramyotonia congenita of von Eulenburg2Aug 10, 2020
Parkinson disease 152Dec 18, 2017
Parkinson disease 19a, juvenile-onset1Aug 10, 2020
Parkinson disease 24Aug 10, 2020
Parkinson disease 6, autosomal recessive early-onset1Jan 21, 2020
Parkinson disease 8, autosomal dominant1Dec 18, 2017
Parkinson disease, late-onset3Jan 28, 2020
Parkinsonism-dystonia, infantile, 11Jan 21, 2020
Periventricular nodular heterotopia 11Jan 21, 2020
Peroxisome biogenesis disorder 1A (Zellweger)3Dec 18, 2017
Persistent fetal circulation syndrome1Jan 28, 2020
Phosphoenolpyruvate carboxykinase deficiency, cytosolic2Jan 21, 2020
Phosphoribosylpyrophosphate synthetase superactivity1Jan 21, 2020
Pigmentary pallidal degeneration5Jan 28, 2020
Pigmented nodular adrenocortical disease, primary, 42Dec 10, 2014
Pitt-Hopkins syndrome3Jan 21, 2020
Pituitary dependent hypercortisolism5Nov 18, 2014
Polyarteritis nodosa, childhoood-onset3Aug 10, 2020
Polycystic kidney disease, adult type3Jan 28, 2020
Polyglucosan body myopathy 1 with or without immunodeficiency1Jan 21, 2020
Pontocerebellar hypoplasia type 63Jan 21, 2020
Pontocerebellar hypoplasia, type 1b1Dec 18, 2017
Pontocerebellar hypoplasia, type 91Dec 18, 2017
Porencephaly 21Jan 21, 2020
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 61Jan 21, 2020
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 14Jan 21, 2020
Progressive myositis ossificans1Jan 21, 2020
Prolidase deficiency2Jan 21, 2020
Propionic acidemia3Mar 5, 2019
Proprotein convertase 1/3 deficiency2Jan 21, 2020
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1Jan 21, 2020
Pulmonary alveolar proteinosis3Dec 2, 2014
Pyruvate carboxylase deficiency1Aug 10, 2020
Pyruvate dehydrogenase E1-alpha deficiency10Aug 10, 2020
Pyruvate dehydrogenase E3-binding protein deficiency1Dec 18, 2017
Rapp-Hodgkin ectodermal dysplasia syndrome1Jan 21, 2020
Renal coloboma syndrome1Jan 21, 2020
Renal dysplasia1Jan 21, 2020
Renpenning syndrome 11Jan 21, 2020
Respiratory distress5Sep 24, 2019
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome1Aug 10, 2020
Rett syndrome7Aug 10, 2020
Rett syndrome, congenital variant4Aug 10, 2020
Robinow syndrome, autosomal dominant 21Jan 21, 2020
SETD1B-associated disorder1Aug 10, 2020
SPATA5L1-associated disorder7Aug 10, 2020
Saldino-Mainzer syndrome2Jan 28, 2020
Seizures, benign familial infantile, 21Jan 21, 2020
Sengers syndrome2Dec 18, 2017
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome5Jan 21, 2020
Severe X-linked myotubular myopathy2Jan 21, 2020
Severe myoclonic epilepsy in infancy2Jan 28, 2020
Short stature with microcephaly and distinctive facies1Aug 10, 2020
Short-rib thoracic dysplasia 17 with or without polydactyly1Jan 28, 2020
Short-rib thoracic dysplasia 3 with or without polydactyly2Jan 21, 2020
Shwachman-Diamond syndrome 13Aug 10, 2020
Siddiqi syndrome1Aug 10, 2020
Sifrim-Hitz-Weiss syndrome1Aug 10, 2020
Smith-Kingsmore syndrome1Jan 21, 2020
Smith-Lemli-Opitz syndrome2Dec 18, 2017
Smith-Magenis syndrome1Jan 21, 2020
Snijders blok-campeau syndrome2Aug 10, 2020
Snijders blok-fisher syndrome2Aug 10, 2020
Sotos syndrome 13Jan 21, 2020
Sotos syndrome 21Aug 10, 2020
Spastic paraplegia 11, autosomal recessive2Jan 21, 2020
Spastic paraplegia 30, autosomal recessive2Jan 21, 2020
Spastic paraplegia 353Jan 21, 2020
Spastic paraplegia 4, autosomal dominant7Jan 21, 2020
Spastic paraplegia 52, autosomal recessive1Dec 18, 2017
Spastic paraplegia 75, autosomal recessive3Aug 10, 2020
Spastic paraplegia 82, autosomal recessive1Aug 10, 2020
Speech-language disorder 11Jan 21, 2020
Spermatogenic failure 311Jan 21, 2020
Spinal muscular atrophy, distal, autosomal recessive, 11Jan 21, 2020
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1Jan 21, 2020
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant1Jan 21, 2020
Spinocerebellar ataxia 481Aug 10, 2020
Spinocerebellar ataxia type 19/221Aug 10, 2020
Spinocerebellar ataxia type 271Aug 10, 2020
Spinocerebellar ataxia type 282Jan 21, 2020
Spinocerebellar ataxia type 52Jan 21, 2020
Spinocerebellar ataxia type 61Jan 21, 2020
Spinocerebellar ataxia, autosomal recessive 102Aug 10, 2020
Spinocerebellar ataxia, autosomal recessive 172Aug 10, 2020
Spinocerebellar ataxia, autosomal recessive 181Dec 18, 2017
Spinocerebellar ataxia, autosomal recessive 83Jan 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, pakistani type1Aug 10, 2020
Spondyloepiphyseal dysplasia, kondo-fu type2Aug 10, 2020
Spondyloperipheral dysplasia-short ulna syndrome1Jan 21, 2020
Stankiewicz-Isidor syndrome1Jan 21, 2020
Steel syndrome2Jan 21, 2020
Stickler syndrome type 11Jan 21, 2020
Striatal degeneration, autosomal dominant 21Jan 21, 2020
Striatal necrosis, bilateral, and progressive polyneuropathy1Dec 18, 2017
Syndromic X-linked intellectual disability Turner type2Jan 21, 2020
Takenouchi-Kosaki syndrome1Dec 18, 2017
Tay-Sachs disease2Dec 18, 2017
Tetralogy of Fallot1Dec 18, 2017
Thanatophoric dysplasia type 11Aug 10, 2020
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)2Dec 18, 2017
Thyroid dyshormonogenesis 61Jan 21, 2020
Tibial muscular dystrophy1Aug 10, 2020
Torsion dystonia 62Jan 21, 2020
Townes-Brocks syndrome 12Aug 10, 2020
Treacher Collins syndrome 11Jan 21, 2020
Trichorhinophalangeal dysplasia type I1Jan 21, 2020
Tuberous sclerosis 11Jan 21, 2020
Tuberous sclerosis 21Jan 21, 2020
VAN ESCH-O''''DRISCOLL SYNDROME1Jan 21, 2020
VPS16-associated disorder1Aug 10, 2020
Very long chain acyl-CoA dehydrogenase deficiency1Jan 21, 2020
Vici syndrome3Dec 18, 2017
Visceral myopathy1Jan 21, 2020
Vitamin B12-responsive methylmalonic acidemia type cblB1Jan 21, 2020
Vitreoretinopathy, neovascular inflammatory1Aug 10, 2020
Von Willebrand disease, recessive form1Aug 10, 2020
Werner syndrome1Jan 21, 2020
Wiedemann-Steiner syndrome3Aug 10, 2020
Wilson disease2Jan 21, 2020
Wolcott-Rallison dysplasia1Jan 21, 2020
Wolfram syndrome 12Jan 21, 2020
Wolfram-like syndrome, autosomal dominant1Jan 21, 2020
X-linked hydrocephalus syndrome1Aug 10, 2020
Xerocytosis1Aug 10, 2020
Xia-Gibbs syndrome2Jan 21, 2020
ZTTK syndrome1Jan 21, 2020
Zimmermann-Laband syndrome 11Dec 18, 2017
beta Thalassemia1Aug 10, 2020
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency2Dec 18, 2017
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