Institute of Human Genetics (University of Leipzig Medical Center), UKL

General information

Institute of Human Genetics, UKL
University of Leipzig Medical Center
Leipzig
Germany

Organization ID: 506086

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 2751

Gene

GeneSubmissionsLast Updated
AAGAB1Oct 12, 2020
AARS11Oct 12, 2020
AARS21Oct 12, 2020
ABCA47Oct 12, 2020
ABCA51Oct 12, 2020
ABCB71Apr 20, 2020
ABCC61Oct 12, 2020
ABCC85Oct 12, 2020
ABCD113Oct 12, 2020
ABCD41Oct 12, 2020
ABCG51Oct 12, 2020
ABCG81Oct 12, 2020
ACADS1Oct 12, 2020
ACADSB2Feb 25, 2020
ACADVL1Oct 12, 2020
ACAN7Apr 20, 2020
ACBD61Apr 20, 2020
ACO21Oct 12, 2020
ACOX11Oct 12, 2020
ACSL41Oct 12, 2020
ACTA11Apr 20, 2020
ACTB4Oct 12, 2020
ACTL6B2Oct 12, 2020
ACTN21Oct 12, 2020
ACTN41Apr 20, 2020
ACVRL12Apr 20, 2020
ADAR1Oct 12, 2020
ADARB11Oct 12, 2020
ADAT31Oct 12, 2020
ADCY52Apr 20, 2020
ADCY91Oct 12, 2020
ADD31Oct 8, 2020
ADGRG14Oct 8, 2020
ADNP7Oct 12, 2020
ADSL2Oct 12, 2020
AFF22Oct 12, 2020
AFG3L22Oct 12, 2020
AGA1Apr 20, 2020
AGL1Oct 12, 2020
AHI12Oct 8, 2020
AHNAK21Oct 12, 2020
AIFM12Oct 12, 2020
AIP1Oct 12, 2020
ALDH18A12Apr 20, 2020
ALDH5A11Oct 8, 2020
ALDH7A11Oct 12, 2020
ALG11Oct 12, 2020
ALG135Oct 12, 2020
ALG61Oct 12, 2020
ALMS12Oct 12, 2020
ALOX12B2Oct 12, 2020
ALOXE31Oct 12, 2020
ALPL11Oct 12, 2020
AMER12Oct 12, 2020
ANKRD1112Oct 12, 2020
ANKRD171Apr 20, 2020
ANKS63Feb 5, 2021
ANO101Oct 12, 2020
ANOS12Apr 20, 2020
AP2S11Oct 12, 2020
AP4B12Apr 20, 2020
AP4B1-AS12Apr 20, 2020
AP4M11Oct 8, 2020
AP4S11Oct 8, 2020
APC7Oct 12, 2020
APOA11Oct 12, 2020
APOA1-AS1Oct 12, 2020
APOA51Oct 12, 2020
APOB16Oct 12, 2020
APOE3Oct 12, 2020
AR1Oct 12, 2020
ARFGEF11Oct 12, 2020
ARFGEF21Oct 12, 2020
ARHGAP61Oct 12, 2020
ARHGEF61Apr 20, 2020
ARHGEF91Apr 20, 2020
ARID1A6Oct 12, 2020
ARID1B12Feb 25, 2021
ARID21Oct 12, 2020
ARL13A1Oct 12, 2020
ARPC1B1Apr 20, 2020
ARSA4Oct 12, 2020
ARSL1Apr 20, 2020
ARV12Oct 12, 2020
ARX10Oct 12, 2020
ASIC11Oct 12, 2020
ASL1Apr 20, 2020
ASNS1Oct 12, 2020
ASXL12Oct 12, 2020
ASXL36Jan 27, 2021
ATL11Apr 20, 2020
ATM27Oct 12, 2020
ATN12Oct 12, 2020
ATP13A23Oct 12, 2020
ATP1A24Oct 12, 2020
ATP1A36Oct 12, 2020
ATP2B11Oct 12, 2020
ATP6V0A21Oct 12, 2020
ATP7A2Apr 20, 2020
ATP7B2Oct 12, 2020
ATRIP1Oct 12, 2020
ATRIP-TREX11Oct 12, 2020
ATRX10Oct 12, 2020
ATXN11Oct 12, 2020
ATXN7L3-AS11Oct 12, 2020
AUTS24Feb 25, 2021
AVP1Apr 20, 2020
BAP14Oct 12, 2020
BARD17Oct 12, 2020
BBS71Oct 12, 2020
BBS92Oct 12, 2020
BCAP311Apr 20, 2020
BCKDHA1Oct 12, 2020
BCL11A2Apr 20, 2020
BCL11B1Apr 20, 2020
BCOR2Apr 20, 2020
BEST11Oct 12, 2020
BICD21Oct 12, 2020
BLM1Oct 12, 2020
BLNK1Apr 20, 2020
BRAF1Apr 20, 2020
BRAT11Oct 12, 2020
BRCA135Oct 12, 2020
BRCA262Oct 12, 2020
BRIP115Oct 12, 2020
BRPF11Oct 12, 2020
BRWD31Oct 12, 2020
BTD1Oct 12, 2020
C11orf6511Oct 12, 2020
C12orf41Oct 8, 2020
C12orf571Oct 8, 2020
C19orf121Oct 12, 2020
C1S1Apr 20, 2020
C1orf1051Oct 12, 2020
C51Oct 12, 2020
CABP41Apr 20, 2020
CACNA1A18Oct 12, 2020
CACNA1B2Oct 12, 2020
CACNA1E4Oct 12, 2020
CACNA1F2Oct 12, 2020
CACNA1G3Oct 12, 2020
CACNA1H1Oct 12, 2020
CACNA1S7Oct 12, 2020
CACNA2D11Oct 12, 2020
CAMK2B1Apr 20, 2020
CARD112Oct 12, 2020
CARMIL21Oct 12, 2020
CASK4Apr 20, 2020
CASR2Apr 20, 2020
CATIP-AS21Apr 20, 2020
CBS1Oct 8, 2020
CC2D1A2Oct 12, 2020
CCDC222Apr 20, 2020
CCDC391Oct 12, 2020
CCDC88C1Oct 12, 2020
CCM21Feb 25, 2020
CCND21Apr 20, 2020
CCNF1Oct 12, 2020
CD40LG1Apr 20, 2020
CD99L21Oct 12, 2020
CDC421Oct 12, 2020
CDH18Oct 12, 2020
CDHR11Oct 12, 2020
CDK191Oct 12, 2020
CDK81Oct 12, 2020
CDKL514Oct 12, 2020
CDKN1B1Oct 12, 2020
CDT11Oct 12, 2020
CEBPE1Oct 12, 2020
CEP2905Oct 12, 2020
CEP631Oct 12, 2020
CERT11Apr 20, 2020
CFHR52Oct 12, 2020
CFTR1Oct 12, 2020
CHD11Oct 12, 2020
CHD214Oct 12, 2020
CHD33Oct 12, 2020
CHD51Oct 12, 2020
CHD75Oct 12, 2020
CHD81Apr 20, 2020
CHEK217Oct 12, 2020
CHL11Oct 12, 2020
CHRNA21Oct 12, 2020
CHRNB21Oct 12, 2020
CHST142Oct 12, 2020
CIC3Oct 12, 2020
CKAP2L1Oct 8, 2020
CLCN16Oct 12, 2020
CLCN42Oct 12, 2020
CLCN53Oct 12, 2020
CLDN161Oct 12, 2020
CLN32Feb 25, 2021
CLP11Oct 8, 2020
CLTC1Oct 12, 2020
CNGB11Oct 12, 2020
CNGB31Apr 20, 2020
CNKSR22Apr 20, 2020
COL10A12Apr 20, 2020
COL11A14Oct 12, 2020
COL11A24Oct 12, 2020
COL12A12Oct 12, 2020
COL13A11Apr 20, 2020
COL18A12Oct 12, 2020
COL1A18Oct 12, 2020
COL1A23Oct 12, 2020
COL2A13Oct 12, 2020
COL3A11Apr 20, 2020
COL4A13Apr 20, 2020
COL4A22Oct 12, 2020
COL4A33Apr 20, 2020
COL4A43Oct 12, 2020
COL4A57Oct 12, 2020
COL4A61Oct 12, 2020
COL5A12Oct 12, 2020
COL5A23Oct 12, 2020
COL6A22Oct 12, 2020
COL6A31Apr 20, 2020
COL7A12Apr 20, 2020
COL9A21Oct 12, 2020
COLQ2Apr 20, 2020
COQ61Oct 12, 2020
COQ8A1Apr 20, 2020
CP1Oct 12, 2020
CPLANE13Oct 12, 2020
CPS11Apr 20, 2020
CPT1C1Oct 12, 2020
CPT22Apr 20, 2020
CRB11Oct 12, 2020
CRBN1Oct 8, 2020
CREBBP5Oct 12, 2020
CRTAP1Oct 12, 2020
CRYGD1Oct 12, 2020
CSF1R5Oct 12, 2020
CSF2RA1Oct 12, 2020
CSNK2A12Apr 20, 2020
CSNK2B1Apr 20, 2020
CSPP11Oct 12, 2020
CST31Apr 20, 2020
CTCF2Oct 12, 2020
CTNNB13Apr 20, 2020
CUL31Apr 20, 2020
CUL4B2Mar 1, 2021
CUX18Oct 12, 2020
CUX21Oct 12, 2020
CXCR41Apr 20, 2020
CYFIP21Apr 20, 2020
CYP11A11Oct 12, 2020
CYP1B12Oct 12, 2020
CYP21A21Apr 20, 2020
CYP27A12Oct 12, 2020
CYP7B11Apr 20, 2020
CZ1P-ASNS1Oct 12, 2020
DAAM11Oct 12, 2020
DACT11Oct 12, 2020
DAG11Oct 12, 2020
DARS11Oct 12, 2020
DARS21Oct 8, 2020
DCHS11Oct 12, 2020
DCTN11Apr 20, 2020
DCX1Apr 20, 2020
DDHD21Oct 12, 2020
DDX3X4Apr 20, 2020
DEAF13Oct 12, 2020
DEGS11Oct 8, 2020
DEPDC56Oct 12, 2020
DHCR72Feb 25, 2020
DHDDS1Apr 20, 2020
DIAPH21Oct 12, 2020
DICER14Oct 12, 2020
DIP2C1Apr 20, 2020
DIS3L21Oct 12, 2020
DMD8Oct 12, 2020
DNAH81Oct 12, 2020
DNAH8-AS11Oct 12, 2020
DNAH91Oct 12, 2020
DNAJC71Apr 20, 2020
DNM13Oct 12, 2020
DNM1L1Apr 20, 2020
DNMT11Apr 20, 2020
DNMT3A2Oct 12, 2020
DOCK21Oct 12, 2020
DOCK31Oct 12, 2020
DOCK61Oct 12, 2020
DOCK71Oct 12, 2020
DOK71Apr 20, 2020
DPH11Oct 12, 2020
DPP61Oct 12, 2020
DPYD1Apr 20, 2020
DPYD-AS11Apr 20, 2020
DRG11Oct 12, 2020
DSG23Oct 12, 2020
DSP8Oct 12, 2020
DSPP1Oct 12, 2020
DYM1Oct 12, 2020
DYNC1H119Oct 12, 2020
DYNC2H12Apr 20, 2020
DYRK1A5Oct 12, 2020
DYSF1Apr 20, 2020
EDAR2Apr 20, 2020
EEF1A23Oct 12, 2020
EFTUD22Oct 12, 2020
EGR31Apr 20, 2020
EHMT14Oct 12, 2020
EIF2B11Oct 12, 2020
EIF2B52Oct 12, 2020
EIF3F2Sep 8, 2020
EIF5B1Apr 20, 2020
ELN2Oct 12, 2020
ELP41Oct 12, 2020
ENG1Apr 20, 2020
ENPP11Oct 12, 2020
EP3006Oct 12, 2020
EPCAM1Apr 20, 2020
EPHB21Oct 12, 2020
ERCC41Oct 12, 2020
ERCC61Apr 20, 2020
ESPN1Oct 8, 2020
ESR21Oct 12, 2020
EXOSC31Oct 12, 2020
EXT12Oct 12, 2020
EXT21Oct 12, 2020
EYA41Oct 12, 2020
EYS2Oct 12, 2020
EZH23Oct 12, 2020
FANCA1Apr 20, 2020
FANCB1Oct 12, 2020
FANCC1Oct 12, 2020
FANCM1Oct 12, 2020
FAR11Oct 8, 2020
FAT21Oct 12, 2020
FBLN51Oct 12, 2020
FBN19Oct 12, 2020
FBXL191Apr 20, 2020
FBXL41Apr 20, 2020
FBXO113Oct 12, 2020
FGD12Oct 12, 2020
FGF141Feb 25, 2020
FGF81Oct 12, 2020
FGFR12Oct 12, 2020
FGFR34Oct 12, 2020
FH2Apr 20, 2020
FHL11Oct 12, 2020
FKBP101Oct 12, 2020
FKBP141Apr 20, 2020
FKBP14-AS11Apr 20, 2020
FKRP1Apr 20, 2020
FLCN1Oct 12, 2020
FLG2Oct 12, 2020
FLG-AS11Oct 12, 2020
FLG21Oct 12, 2020
FLNA5Oct 12, 2020
FLNB1Apr 20, 2020
FLNC2Oct 12, 2020
FN11Apr 20, 2020
FOXG12Apr 20, 2020
FOXP18Oct 12, 2020
FOXRED11Oct 8, 2020
FRMD71Apr 20, 2020
FRMPD42Oct 12, 2020
FRRS1L1Oct 8, 2020
FSCN21Oct 12, 2020
FUCA11Oct 8, 2020
FYCO12Oct 12, 2020
FZD41Oct 12, 2020
G6PC12Oct 12, 2020
G6PC31Apr 20, 2020
G6PD1Oct 12, 2020
GAA1Oct 12, 2020
GABRA12Apr 20, 2020
GABRA21Apr 20, 2020
GABRB12Oct 12, 2020
GABRB22Oct 12, 2020
GABRB33Oct 12, 2020
GABRD1Oct 12, 2020
GABRG22Apr 20, 2020
GALC5Feb 25, 2021
GALNT21Mar 7, 2021
GALT1Apr 20, 2020
GAMT2Oct 12, 2020
GARS12Oct 12, 2020
GATA22Oct 12, 2020
GATAD11Oct 12, 2020
GATAD2B3Oct 12, 2020
GBA1Apr 20, 2020
GBP51Oct 12, 2020
GCDH2Oct 8, 2020
GCK4Oct 12, 2020
GDAP11Oct 12, 2020
GDF31Oct 12, 2020
GDF61Apr 20, 2020
GDI13Sep 8, 2020
GEMIN41Oct 12, 2020
GFAP1Apr 20, 2020
GH-LCR6Oct 12, 2020
GH13Oct 12, 2020
GHSR1Oct 12, 2020
GJA31Apr 20, 2020
GJA81Apr 20, 2020
GJB12Apr 20, 2020
GJB22Oct 12, 2020
GJB61Apr 20, 2020
GLA2Oct 12, 2020
GLB11Oct 12, 2020
GLDC3Oct 12, 2020
GLI25Oct 12, 2020
GLRA11Oct 12, 2020
GLS1Apr 20, 2020
GLUD11Oct 12, 2020
GM2A1Apr 20, 2020
GNAI11Feb 25, 2020
GNAO11Apr 20, 2020
GNAS4Oct 12, 2020
GNB16Feb 25, 2021
GNB51Oct 12, 2020
GNE1Oct 12, 2020
GNPTAB1Oct 12, 2020
GNRHR1Apr 20, 2020
GNS1Apr 20, 2020
GPIHBP12Oct 12, 2020
GRIA31Oct 12, 2020
GRIA47Apr 20, 2020
GRIN13Oct 12, 2020
GRIN2A14Mar 4, 2021
GRIN2B75Oct 12, 2020
GRIN2D1Apr 20, 2020
GRIN3B2Oct 12, 2020
GRK51Oct 12, 2020
GRN1Oct 12, 2020
GUCY1A11Oct 12, 2020
H1-42Oct 12, 2020
H3-3A1Oct 12, 2020
HACE11Oct 8, 2020
HAVCR21Apr 20, 2020
HBA-LCR7Oct 12, 2020
HBB2Oct 12, 2020
HCFC12Oct 12, 2020
HCN14Oct 12, 2020
HCN21Oct 12, 2020
HCN41Apr 20, 2020
HDAC41Oct 12, 2020
HECW22Oct 12, 2020
HERC22Oct 12, 2020
HEXA1Oct 12, 2020
HEXB1Oct 12, 2020
HFE1Oct 12, 2020
HGSNAT1Oct 8, 2020
HIBCH2Oct 12, 2020
HIVEP22Oct 12, 2020
HIVEP31Oct 12, 2020
HMBS1Apr 20, 2020
HNF1A2Oct 12, 2020
HNF1B1Apr 20, 2020
HNRNPH21Oct 8, 2020
HNRNPU1Apr 20, 2020
HOXD131Apr 20, 2020
HPS11Oct 12, 2020
HRAS1Apr 20, 2020
HSD17B101Apr 20, 2020
HSPB11Apr 20, 2020
HSPB81Apr 20, 2020
HSPD11Apr 20, 2020
HSPG21Oct 12, 2020
HTRA11Apr 20, 2020
HTT2Oct 12, 2020
HUWE17Oct 12, 2020
IDH3G1Oct 12, 2020
IDUA1Oct 12, 2020
IFIH13Oct 12, 2020
IFNGR11Oct 12, 2020
IGF1R5Oct 12, 2020
IGF22Apr 20, 2020
IGFALS2Oct 12, 2020
IL1RAPL12Oct 12, 2020
IL21R2Oct 12, 2020
IL2RG1Apr 20, 2020
INF22Oct 12, 2020
INS-IGF22Apr 20, 2020
INSR1Apr 20, 2020
IQSEC23Oct 12, 2020
IRAIN1Apr 20, 2020
IRAK1BP13Oct 12, 2020
IRAK41Oct 12, 2020
IRF2BPL1Oct 12, 2020
ITGA71Apr 20, 2020
ITGB41Oct 12, 2020
ITIH61Oct 12, 2020
ITM2B1Apr 20, 2020
ITPR12Oct 12, 2020
IVD2Oct 12, 2020
JAG11Apr 20, 2020
JAK31Apr 20, 2020
JMJD7-PLA2G4B1Oct 12, 2020
JPH31Apr 20, 2020
KALRN1Oct 12, 2020
KANSL11Apr 20, 2020
KAT6A2Oct 12, 2020
KAT6B2Apr 20, 2020
KCNA21Apr 20, 2020
KCNB19Oct 12, 2020
KCNC11Oct 12, 2020
KCNC32Apr 20, 2020
KCND31Apr 20, 2020
KCNH11Oct 12, 2020
KCNH25Oct 12, 2020
KCNJ101Apr 20, 2020
KCNK92Oct 12, 2020
KCNMA14Oct 12, 2020
KCNMA1-AS11Apr 20, 2020
KCNN21Oct 12, 2020
KCNQ110Oct 12, 2020
KCNQ1-AS11Apr 20, 2020
KCNQ213Oct 12, 2020
KCNQ32Apr 20, 2020
KCNQ51Apr 20, 2020
KCNT16Oct 12, 2020
KCNV21Oct 12, 2020
KDM5A1Sep 8, 2020
KDM5B1Apr 20, 2020
KDM5C2Oct 12, 2020
KDM6A1Oct 12, 2020
KDM6B2Oct 8, 2020
KIAA05861Oct 8, 2020
KIF111Apr 20, 2020
KIF1A4Oct 12, 2020
KIF5A1Oct 12, 2020
KIF71Oct 12, 2020
KIRREL22Oct 12, 2020
KIRREL31Apr 20, 2020
KLHL151Apr 20, 2020
KLHL71Apr 20, 2020
KMT2A3Oct 12, 2020
KMT2B2Oct 12, 2020
KMT2C5Oct 12, 2020
KMT2D12Oct 12, 2020
KMT2E2Oct 12, 2020
KMT5B1Apr 20, 2020
KRAS2Apr 20, 2020
KRIT11Apr 20, 2020
KRT51Oct 12, 2020
KRT91Apr 20, 2020
L1CAM2Oct 12, 2020
L2HGDH1Oct 8, 2020
LAMA21Oct 8, 2020
LAMA41Oct 12, 2020
LAMC31Apr 20, 2020
LAMP21Oct 12, 2020
LARP71Oct 12, 2020
LARS21Oct 12, 2020
LDLR35Oct 12, 2020
LDLR-AS11Oct 12, 2020
LFNG1Oct 12, 2020
LGI11Oct 12, 2020
LHX41Apr 20, 2020
LHX4-AS11Apr 20, 2020
LIG41Oct 12, 2020
LINS11Oct 8, 2020
LIPA1Apr 20, 2020
LITAF1Apr 20, 2020
LMNA8Oct 12, 2020
LMNB21Apr 20, 2020
LMX1B2Oct 12, 2020
LOC1002895801Oct 12, 2020
LOC1005074431Oct 12, 2020
LOC1019270551Oct 12, 2020
LOC1019270781Oct 12, 2020
LOC1019280081Oct 12, 2020
LOC10272405819Oct 12, 2020
LOC1053710491Apr 20, 2020
LOC1060990622Oct 12, 2020
LOC1065602111Apr 20, 2020
LOC1067808001Apr 20, 2020
LOC1071335102Oct 12, 2020
LOC1076524451Oct 12, 2020
LOC1086639851Oct 12, 2020
LOC1086639931Oct 12, 2020
LOC1094614791Oct 12, 2020
LOC1094614841Oct 12, 2020
LOC1096106311Apr 20, 2020
LOC1096115891Apr 20, 2020
LOC1148034753Oct 12, 2020
LPL2Oct 12, 2020
LRP21Oct 12, 2020
LRP41Oct 12, 2020
LRP61Apr 20, 2020
LRRC561Apr 20, 2020
LRRK21Apr 20, 2020
LRSAM11Apr 20, 2020
LTN11Oct 12, 2020
MACF12Oct 12, 2020
MAGEL21Oct 12, 2020
MAGT11Apr 20, 2020
MAMLD11Oct 12, 2020
MAN1B11Oct 8, 2020
MAN2B11Apr 20, 2020
MAP1B1Oct 12, 2020
MAP2K11Apr 20, 2020
MAP3K11Oct 12, 2020
MAP3K151Oct 12, 2020
MAP3K71Apr 20, 2020
MAPK8IP311May 12, 2020
MAPKAPK21Oct 12, 2020
MATR31Apr 20, 2020
MBD51Oct 12, 2020
MBOAT71Oct 8, 2020
MC4R5Oct 12, 2020
MCCC22Oct 12, 2020
MCPH11Oct 12, 2020
MDH21Oct 12, 2020
MEA11Apr 20, 2020
MECP218Feb 25, 2021
MED123Oct 12, 2020
MED12L1Oct 12, 2020
MED13L12Oct 12, 2020
MED251Oct 12, 2020
MEF2C5Oct 12, 2020
MEF2C-AS21Apr 20, 2020
MEFV3Oct 12, 2020
MEN13Oct 12, 2020
MET2Oct 12, 2020
METTL51Jan 27, 2021
MFF-DT3Apr 20, 2020
MFN21Apr 20, 2020
MGME11Oct 8, 2020
MHRT2Apr 20, 2020
MILR11Oct 12, 2020
MIP1Apr 20, 2020
MIR302CHG1Oct 12, 2020
MIR50041Oct 12, 2020
MITF3Oct 12, 2020
MLH112Oct 12, 2020
MLH31Oct 12, 2020
MMACHC1Apr 20, 2020
MME2Oct 12, 2020
MMP131Apr 20, 2020
MPO1Oct 12, 2020
MPV171Oct 12, 2020
MPZ2Oct 12, 2020
MSH221Oct 12, 2020
MSH615Oct 12, 2020
MSN1Oct 12, 2020
MSX11Oct 12, 2020
MTHFR2Oct 8, 2020
MTM11Apr 20, 2020
MTOR2Oct 12, 2020
MTRFR1Oct 8, 2020
MUTYH5Oct 12, 2020
MYBPC313Oct 12, 2020
MYH116Oct 12, 2020
MYH21Apr 20, 2020
MYH31Oct 12, 2020
MYH61Oct 12, 2020
MYH711Oct 12, 2020
MYH81Oct 12, 2020
MYHAS2Oct 12, 2020
MYL21Apr 20, 2020
MYLK1Apr 20, 2020
MYO15A1Oct 12, 2020
MYO1E1Oct 12, 2020
MYO5B1Oct 12, 2020
MYO7A5Oct 12, 2020
MYT1L4Oct 12, 2020
NAA102Oct 12, 2020
NAA151Oct 12, 2020
NALCN2Oct 12, 2020
NAPB1Oct 8, 2020
NARS12Oct 12, 2020
NBEA1Apr 20, 2020
NBN1Oct 12, 2020
NCAPH21Apr 20, 2020
NDE13Oct 12, 2020
NDRG11Oct 12, 2020
NDST12Oct 8, 2020
NEB3Oct 12, 2020
NECAP11Apr 20, 2020
NEFH1Apr 20, 2020
NEFL1Apr 20, 2020
NEK91Oct 12, 2020
NEXMIF1Oct 12, 2020
NEXN2Oct 12, 2020
NF116Oct 12, 2020
NFIB3Oct 12, 2020
NFIX2Oct 12, 2020
NFKB14Oct 12, 2020
NFKB21Oct 12, 2020
NGLY11Oct 12, 2020
NHLRC11Oct 12, 2020
NIPA11Oct 12, 2020
NIPAL31Oct 12, 2020
NIPBL7Oct 12, 2020
NKX2-11Oct 12, 2020
NLGN4X1Apr 20, 2020
NOD21Apr 20, 2020
NONO1Feb 25, 2020
NOTCH11Apr 20, 2020
NOTCH21Apr 20, 2020
NOTCH312Oct 12, 2020
NPHP11Oct 12, 2020
NPHP3-ACAD112Oct 12, 2020
NPHS11Oct 12, 2020
NPHS22Oct 12, 2020
NPR26Oct 12, 2020
NPRL21Apr 20, 2020
NPRL37Oct 12, 2020
NR2F12Apr 20, 2020
NRDE21Oct 12, 2020
NRXN11Apr 20, 2020
NSD15Oct 12, 2020
NSD21Apr 20, 2020
NSMF1Apr 20, 2020
NT5DC12Apr 20, 2020
NT5DC41Oct 8, 2020
NTRK11Oct 12, 2020
NTRK21Oct 12, 2020
NUS12Oct 12, 2020
OCA21Oct 12, 2020
OCRL2Oct 12, 2020
OFD11Oct 12, 2020
OPA12Apr 20, 2020
OPHN11Apr 20, 2020
OTC1Oct 12, 2020
OXT1Oct 12, 2020
P2RY121Oct 12, 2020
P3H12Oct 12, 2020
PACS11Oct 12, 2020
PAFAH1B16Oct 12, 2020
PAH6Oct 12, 2020
PAK12Oct 12, 2020
PAK31Oct 12, 2020
PALB213Oct 12, 2020
PARS22Oct 12, 2020
PASK1Oct 12, 2020
PAX22Apr 20, 2020
PAX32Sep 8, 2020
PAX61Oct 12, 2020
PCCA1Oct 12, 2020
PCDH1910Oct 12, 2020
PCDHA11Apr 20, 2020
PCDHA101Apr 20, 2020
PCDHA21Apr 20, 2020
PCDHA31Apr 20, 2020
PCDHA41Apr 20, 2020
PCDHA51Apr 20, 2020
PCDHA61Apr 20, 2020
PCDHA71Apr 20, 2020
PCDHA81Apr 20, 2020
PCDHA91Apr 20, 2020
PCDHA@1Apr 20, 2020
PCNT2Oct 12, 2020
PCSK93Oct 12, 2020
PDCD101Oct 12, 2020
PDE11A1Oct 12, 2020
PDE4D1Oct 12, 2020
PDE8B1Apr 20, 2020
PDGFB1Apr 20, 2020
PDGFRA1Oct 12, 2020
PDHA13Oct 12, 2020
PEX11Oct 12, 2020
PEX51Apr 20, 2020
PEX61Oct 12, 2020
PGAP13Oct 12, 2020
PGAP21Oct 8, 2020
PGM11Apr 20, 2020
PHACTR11Oct 12, 2020
PHF31Oct 12, 2020
PHF62Oct 12, 2020
PHGDH1Oct 12, 2020
PHIP4Oct 12, 2020
PHKA11Oct 12, 2020
PHKA22Oct 12, 2020
PHKB1Oct 12, 2020
PIEZO11Oct 12, 2020
PIEZO21Apr 20, 2020
PIGA2Oct 8, 2020
PIGC1Oct 12, 2020
PIGN2Oct 12, 2020
PIGT1Oct 12, 2020
PIGV1Oct 12, 2020
PIK3CA5Oct 12, 2020
PIK3CD1Oct 12, 2020
PIK3R12Oct 12, 2020
PIK3R22Oct 12, 2020
PKD110Apr 19, 2021
PKD1L12Oct 12, 2020
PKD1L1-AS11Oct 12, 2020
PKHD14Apr 19, 2021
PKLR1Oct 12, 2020
PKP24Oct 12, 2020
PLA2G4B1Oct 12, 2020
PLA2G62Oct 8, 2020
PLCG21Oct 12, 2020
PLD31Oct 12, 2020
PLEC2Oct 12, 2020
PLEKHG21Oct 12, 2020
PLEKHG4B1Oct 12, 2020
PLIN11Apr 20, 2020
PLXNA31Oct 12, 2020
PLXNB31Oct 12, 2020
PMP221Apr 20, 2020
PMS218Oct 12, 2020
PNKD1Apr 20, 2020
PNKP5Dec 11, 2020
PNPO2Apr 20, 2020
POGZ3Oct 12, 2020
POLE1Oct 12, 2020
POLG6Oct 12, 2020
POLG21Oct 12, 2020
POLK1Apr 20, 2020
POLR1A2Oct 12, 2020
POLR1C2Oct 12, 2020
POLR2A2Oct 12, 2020
POLR2F3Oct 12, 2020
POLR3B2Oct 12, 2020
POMGNT13Feb 25, 2021
POMT12Oct 12, 2020
POT11Oct 12, 2020
POU1F11Apr 20, 2020
POU3F31Apr 20, 2020
PPARG3Oct 12, 2020
PPM1D1Apr 20, 2020
PPP2R1A4Oct 12, 2020
PPP2R5D1Apr 20, 2020
PQBP11Oct 12, 2020
PRDM121Apr 20, 2020
PRDX41Apr 20, 2020
PREPL1Apr 20, 2020
PRF11Apr 20, 2020
PRG41Apr 20, 2020
PRICKLE11Oct 12, 2020
PRKAR1A1Apr 20, 2020
PRKCSH1Oct 12, 2020
PRKD11Oct 12, 2020
PRMT71Apr 20, 2020
PRNP1Oct 12, 2020
PROS11Oct 12, 2020
PRPF61Apr 20, 2020
PRPH23Oct 12, 2020
PRRT28Oct 12, 2020
PRSS11Oct 12, 2020
PRSS231Oct 12, 2020
PRUNE11Feb 25, 2020
PSEN11Apr 20, 2020
PTCH16Oct 12, 2020
PTCHD11Apr 20, 2020
PTDSS12Oct 12, 2020
PTEN5Oct 12, 2020
PTH1R1Oct 12, 2020
PTPN115Apr 20, 2020
PTPN231Oct 12, 2020
PTPRQ1Oct 12, 2020
PTPRZ11Apr 20, 2020
PUF603Oct 12, 2020
PUM11Apr 20, 2020
PYGL1Oct 12, 2020
QARS11Oct 12, 2020
QRICH13Oct 12, 2020
RAB33A2Oct 12, 2020
RAD211Oct 12, 2020
RAD51C9Oct 12, 2020
RAD51D5Oct 12, 2020
RAD51L3-RFFL5Oct 12, 2020
RAF11Apr 20, 2020
RAG12Apr 20, 2020
RAI14Oct 12, 2020
RANBP22Apr 20, 2020
RAPGEF21Oct 12, 2020
RASGRP11Oct 12, 2020
RB11Oct 12, 2020
RBM101Apr 20, 2020
RECQL1Oct 12, 2020
REEP11Apr 20, 2020
RELN2Oct 12, 2020
RERE2Oct 12, 2020
RET5Oct 12, 2020
RFX71Oct 12, 2020
RFXANK2Apr 20, 2020
RHEB1Apr 20, 2020
RHO4Oct 12, 2020
RHOBTB21Apr 20, 2020
RIF11Oct 12, 2020
RIT11Apr 20, 2020
RNASEH2B1Apr 20, 2020
ROBO130May 18, 2021
ROBO217Jan 28, 2021
ROBO319Feb 5, 2021
ROBO41Feb 5, 2021
RORA2Oct 12, 2020
RORA-AS12Oct 12, 2020
RP11Oct 12, 2020
RPGR1Apr 20, 2020
RPIA1Apr 20, 2020
RPL36A-HNRNPH23Oct 12, 2020
RPS6KA31Apr 20, 2020
RUNX22Oct 12, 2020
RYR115Oct 12, 2020
RYR26Oct 12, 2020
SACS2Oct 12, 2020
SALL42Oct 12, 2020
SAMD9L1Oct 12, 2020
SATB23Oct 12, 2020
SBDS2Feb 25, 2021
SBF22Oct 12, 2020
SCAMP41Oct 12, 2020
SCN10A1Oct 12, 2020
SCN1A39Oct 12, 2020
SCN1A-AS12Oct 12, 2020
SCN1B2Oct 12, 2020
SCN2A20Jan 20, 2021
SCN3A4Oct 12, 2020
SCN4A3Apr 20, 2020
SCN5A11Oct 12, 2020
SCN8A18Feb 25, 2021
SCN9A2Oct 12, 2020
SCO21Apr 20, 2020
SDHA1Oct 12, 2020
SDHAF22Oct 12, 2020
SDHB1Apr 20, 2020
SELENON1Oct 12, 2020
SEMA3A1Oct 12, 2020
SEMA3B1Oct 12, 2020
SERPING12Apr 20, 2020
SERPINI11Apr 20, 2020
SET2Apr 20, 2020
SETBP12Oct 12, 2020
SETD1A1Oct 12, 2020
SETD22Apr 20, 2020
SETX4Oct 12, 2020
SFTA31Oct 12, 2020
SFXN31Oct 12, 2020
SGSH3Feb 25, 2021
SH3TC22Oct 12, 2020
SHANK33Apr 20, 2020
SHH3Oct 12, 2020
SHOC21Apr 20, 2020
SHOX1Oct 12, 2020
SHROOM41Oct 12, 2020
SIL11Oct 12, 2020
SIX11Oct 12, 2020
SLC12A11Apr 20, 2020
SLC12A31Apr 20, 2020
SLC13A51Apr 20, 2020
SLC16A11Oct 12, 2020
SLC16A21Oct 12, 2020
SLC19A11Apr 20, 2020
SLC1A31Oct 12, 2020
SLC25A121Oct 12, 2020
SLC25A131Oct 12, 2020
SLC26A111Oct 12, 2020
SLC26A22Apr 20, 2020
SLC26A5-AS11Apr 20, 2020
SLC2A110Oct 12, 2020
SLC2A21Apr 20, 2020
SLC30A53Nov 23, 2020
SLC36A11Oct 12, 2020
SLC39A41Apr 20, 2020
SLC39A81Oct 8, 2020
SLC3A11Oct 12, 2020
SLC44A11Mar 7, 2021
SLC4A11Oct 12, 2020
SLC4A41Apr 20, 2020
SLC5A21Apr 20, 2020
SLC5A71Apr 20, 2020
SLC6A13Oct 12, 2020
SLC6A191Oct 12, 2020
SLC6A86Oct 12, 2020
SLC7A92Oct 12, 2020
SMAD32Oct 12, 2020
SMAD43Apr 20, 2020
SMAD61Apr 20, 2020
SMARCA210Oct 12, 2020
SMARCA42Oct 12, 2020
SMARCAD11Apr 20, 2020
SMARCC23Oct 12, 2020
SMC1A2Sep 8, 2020
SMC32Oct 12, 2020
SMCR81Oct 12, 2020
SMPD13Feb 25, 2021
SMPX1Apr 20, 2020
SON2Apr 20, 2020
SOS11Apr 20, 2020
SOS21Apr 20, 2020
SOX103Oct 12, 2020
SOX111Apr 20, 2020
SOX41Oct 12, 2020
SOX55Oct 12, 2020
SPART1Oct 8, 2020
SPAST4Apr 20, 2020
SPATA55Oct 12, 2020
SPECC1L1Oct 12, 2020
SPECC1L-ADORA2A1Oct 12, 2020
SPG112Oct 12, 2020
SPG74Oct 12, 2020
SPINK11Oct 12, 2020
SPTA11Apr 20, 2020
SPTAN113Oct 12, 2020
SPTB1Oct 12, 2020
SPTBN23Oct 12, 2020
SQSTM15Oct 12, 2020
SRCAP2Oct 12, 2020
STAG11Oct 12, 2020
STAT32Apr 20, 2020
STAT5B1Apr 20, 2020
STIL1Oct 12, 2020
STK113Oct 12, 2020
STXBP118Oct 12, 2020
SUFU1Apr 20, 2020
SYN11Apr 20, 2020
SYNE15Oct 12, 2020
SYNE1-AS11Oct 12, 2020
SYNE22Oct 12, 2020
SYNGAP16Oct 12, 2020
SYP1Oct 12, 2020
SYT21Apr 20, 2020
SZT21Oct 12, 2020
TAF11Jan 20, 2021
TAF132Jan 30, 2017
TANC21Sep 8, 2020
TAOK11Oct 12, 2020
TBC1D201Apr 20, 2020
TBC1D241Oct 12, 2020
TBCD1Feb 25, 2020
TBCEL-TECTA1Oct 12, 2020
TBCK1Oct 8, 2020
TBK11Apr 20, 2020
TBL1XR13Oct 12, 2020
TBX41Apr 20, 2020
TCAP1Apr 20, 2020
TCF121Oct 12, 2020
TCF201Oct 12, 2020
TCF31Oct 12, 2020
TCF42Oct 12, 2020
TCIRG11Apr 20, 2020
TCOF11Apr 20, 2020
TECPR217Feb 2, 2021
TECTA1Oct 12, 2020
TERT3Oct 12, 2020
TFAP2A1Oct 12, 2020
TFAP2A-AS21Oct 12, 2020
TFE31Sep 8, 2020
TGFB31Oct 12, 2020
TGFBR21Apr 20, 2020
TGM61Apr 20, 2020
THAP11Apr 20, 2020
THG1L1Oct 8, 2020
THOC61Feb 25, 2020
TMCO12Feb 25, 2020
TMEM673Oct 12, 2020
TMEM941Mar 7, 2021
TMLHE1Oct 12, 2020
TMPRSS151Oct 12, 2020
TMTC31Mar 7, 2021
TNC1Apr 20, 2020
TNFRSF13B1Apr 20, 2020
TNNI21Apr 20, 2020
TNNT24Oct 12, 2020
TNNT31Oct 12, 2020
TOPORS1Oct 12, 2020
TP536Oct 12, 2020
TPM11Oct 12, 2020
TPM31Apr 20, 2020
TPP11Oct 12, 2020
TRAF71Apr 20, 2020
TRAPPC91Oct 8, 2020
TRB1Oct 12, 2020
TREX11Oct 12, 2020
TRIO8Oct 12, 2020
TRIP124Oct 12, 2020
TRIT11Oct 12, 2020
TRMT12Oct 12, 2020
TRMT10A1Oct 8, 2020
TRMT2B1Oct 12, 2020
TRPC62Oct 12, 2020
TRPM12Oct 12, 2020
TRPM43Oct 12, 2020
TRPS11Apr 20, 2020
TRPV41Apr 20, 2020
TRRAP2Oct 12, 2020
TSC16Apr 20, 2020
TSC210Oct 12, 2020
TSEN151Oct 8, 2020
TSEN543Oct 12, 2020
TSHB1Apr 20, 2020
TSPAN13Feb 25, 2021
TSPAN121Apr 20, 2020
TTBK21Oct 12, 2020
TTC141Oct 12, 2020
TTI21Oct 12, 2020
TTN15Oct 12, 2020
TTN-AS110Oct 12, 2020
TUBA1A6Oct 12, 2020
TUBB2A1Apr 20, 2020
TUBB2B3Oct 12, 2020
TUBB61Oct 12, 2020
TUBGCP41Oct 12, 2020
TWNK1Apr 20, 2020
UBA52Oct 12, 2020
UBE3B2Oct 8, 2020
UBR11Oct 12, 2020
UBTF1Oct 12, 2020
UNC13A1Oct 12, 2020
UNC13C1Oct 12, 2020
UNC802Oct 12, 2020
URB21Apr 20, 2020
USH2A3Oct 12, 2020
USP9X2Oct 12, 2020
VARS12Feb 25, 2020
VCP1Apr 20, 2020
VLDLR1Oct 12, 2020
VPS111Apr 20, 2020
VPS13B6Oct 12, 2020
VPS13C1Oct 12, 2020
WAC1Apr 20, 2020
WAS1Oct 12, 2020
WASHC41Jan 27, 2021
WASHC51Oct 12, 2020
WDFY32Apr 20, 2020
WDR261Oct 12, 2020
WDR457Oct 12, 2020
WDR624Oct 12, 2020
WDR815Oct 12, 2020
WFS12Oct 12, 2020
WNT11Feb 25, 2020
WNT10B1Apr 20, 2020
WRN1Oct 12, 2020
WT11Apr 20, 2020
WWOX4Feb 25, 2021
XIAP1Apr 20, 2020
XPR11Oct 12, 2020
YAP11Oct 12, 2020
YARS12Oct 12, 2020
YARS21Apr 20, 2020
YWHAG1Dec 11, 2020
ZAP701Oct 12, 2020
ZBTB182Apr 20, 2020
ZC4H21Oct 12, 2020
ZEB25Oct 12, 2020
ZFPM21Oct 12, 2020
ZFPM2-AS11Oct 12, 2020
ZFYVE261Oct 12, 2020
ZIC31Oct 12, 2020
ZMIZ11Jan 28, 2021
ZMYND1112Apr 19, 2021
ZNF2921Jan 20, 2021
ZNF3351Oct 12, 2020
ZNF7111Apr 20, 2020
ZSWIM62Oct 12, 2020

Condition

NameSubmissionsLast Updated
22q13.3 deletion syndrome3Apr 20, 2020
3-methylcrotonyl CoA carboxylase 2 deficiency2Oct 12, 2020
46,XY sex reversal, type 61Oct 12, 2020
ADan amyloidosis1Apr 20, 2020
ALG1-CDG1Oct 12, 2020
Aarskog syndrome2Oct 12, 2020
Abnormality of finger1Oct 12, 2020
Abnormality of the face1Oct 12, 2020
Achondrogenesis, type IB1Apr 20, 2020
Achondroplasia2Apr 20, 2020
Achromatopsia 31Apr 20, 2020
Acid-labile subunit deficiency2Oct 12, 2020
Acquired partial lipodystrophy1Apr 20, 2020
Acrocallosal syndrome1Oct 12, 2020
Acrodysostosis 2, with or without hormone resistance1Oct 12, 2020
Acrofacial dysostosis, Cincinnati type2Oct 12, 2020
Acromicric dysplasia1Oct 12, 2020
Acute intermittent porphyria1Apr 20, 2020
Adams-Oliver syndrome 21Oct 12, 2020
Adenylosuccinate lyase deficiency2Oct 12, 2020
Adermatoglyphia1Apr 20, 2020
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete1Oct 12, 2020
Adrenoleukodystrophy13Oct 12, 2020
Adult hypophosphatasia10Apr 20, 2020
Agammaglobulinemia 4, autosomal recessive1Apr 20, 2020
Agammaglobulinemia 8, autosomal dominant1Oct 12, 2020
Aicardi Goutieres syndrome 11Oct 12, 2020
Aicardi Goutieres syndrome 21Apr 20, 2020
Aicardi-Goutieres syndrome 73Oct 12, 2020
Alagille syndrome 11Apr 20, 2020
Alazami syndrome1Oct 12, 2020
Alexander Disease1Apr 20, 2020
Allan-Herndon-Dudley syndrome1Oct 12, 2020
Alpha thalassemia-X-linked intellectual disability syndrome8Oct 12, 2020
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity1Apr 20, 2020
Alport syndrome 1, X-linked recessive7Oct 12, 2020
Alport syndrome 3, autosomal dominant3Apr 20, 2020
Alport syndrome, autosomal recessive3Oct 12, 2020
Alstrom syndrome2Oct 12, 2020
Alternating hemiplegia of childhood 13Oct 12, 2020
Alternating hemiplegia of childhood 21Oct 12, 2020
Alzheimer disease1Oct 12, 2020
Alzheimer disease, type 31Apr 20, 2020
Amyotrophic lateral sclerosis 211Apr 20, 2020
Amyotrophic lateral sclerosis type 11Apr 20, 2020
Androgen resistance syndrome1Oct 12, 2020
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Oct 12, 2020
Aniridia 11Oct 12, 2020
Aortic aneurysm, familial thoracic 46Oct 12, 2020
Aortic aneurysm, familial thoracic 71Apr 20, 2020
Aortic valve disease 11Apr 20, 2020
Aortic valve disease 31Feb 5, 2021
Arboleda-Tham syndrome2Oct 12, 2020
Argininosuccinate lyase deficiency1Apr 20, 2020
Arrhythmogenic right ventricular cardiomyopathy, type 102Oct 12, 2020
Arrhythmogenic right ventricular dysplasia 88Oct 12, 2020
Arrhythmogenic right ventricular dysplasia 94Oct 12, 2020
Arrhythmogenic right ventricular dysplasia, familial 11Oct 12, 2020
Arrhythmogenic right ventricular dysplasia, familial, 26Oct 12, 2020
Arthrogryposis multiplex congenita 3, myogenic type4Oct 12, 2020
Arthrogryposis, distal, type 2B21Oct 12, 2020
Arthrogryposis, distal, type 2B31Oct 12, 2020
Asparagine synthetase deficiency1Oct 12, 2020
Aspartylglucosaminuria1Apr 20, 2020
Ataxia-pancytopenia syndrome1Oct 12, 2020
Ataxia-telangiectasia syndrome3Oct 12, 2020
Ateleiotic dwarfism3Oct 12, 2020
Atelosteogenesis type 12Apr 20, 2020
Autism, susceptibility to, 181Apr 20, 2020
Autism, susceptibility to, X-linked 21Apr 20, 2020
Autism, susceptibility to, X-linked 41Apr 20, 2020
Autism, susceptibility to, X-linked 61Oct 12, 2020
Autoimmune disease, multisystem, infantile-onset, 11Apr 20, 2020
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated1Oct 12, 2020
Autosomal dominant distal renal tubular acidosis1Oct 12, 2020
Autosomal dominant optic atrophy classic form2Apr 20, 2020
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 31Apr 20, 2020
Autosomal recessive congenital ichthyosis 22Oct 12, 2020
Autosomal recessive congenital ichthyosis 31Oct 12, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2B1Apr 20, 2020
Autosomal recessive osteopetrosis 11Apr 20, 2020
B-cell expansion with NFKB and T-cell anergy2Oct 12, 2020
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 205Oct 12, 2020
Bainbridge-Ropers syndrome5Jan 27, 2021
Baraitser-Winter syndrome 13Oct 12, 2020
Bardet-Biedl syndrome 71Oct 12, 2020
Bardet-Biedl syndrome 92Oct 12, 2020
Bare lymphocyte syndrome 22Apr 20, 2020
Bartter syndrome, type 1, antenatal1Apr 20, 2020
Basal cell carcinoma, susceptibility to, 12Oct 12, 2020
Basal ganglia calcification, idiopathic, 61Oct 12, 2020
Basel-Vanagaite-Smirin-Yosef syndrome1Oct 12, 2020
Beaulieu-Boycott-Innes syndrome1Feb 25, 2020
Becker muscular dystrophy1Apr 20, 2020
Benign familial neonatal seizures 13Apr 20, 2020
Benign familial neonatal seizures 22Apr 20, 2020
Benign hereditary chorea1Oct 12, 2020
Beta-hydroxyisobutyryl-CoA deacylase deficiency2Oct 12, 2020
Bethlem myopathy 12Oct 12, 2020
Bethlem myopathy 22Oct 12, 2020
Bilateral renal agenesis2Feb 5, 2021
Biotinidase deficiency1Oct 12, 2020
Birk-Barel syndrome2Oct 12, 2020
Blau syndrome1Apr 20, 2020
Blepharophimosis - intellectual disability syndrome, SBBYS type2Apr 20, 2020
Bloom syndrome1Oct 12, 2020
Bohring-Opitz syndrome2Oct 12, 2020
Borjeson-Forssman-Lehmann syndrome2Oct 12, 2020
Bosch-Boonstra-Schaaf optic atrophy syndrome2Apr 20, 2020
Brachydactyly-syndactyly syndrome1Apr 20, 2020
Brain small vessel disease 1 with or without ocular anomalies1Apr 20, 2020
Branchiooculofacial syndrome1Oct 12, 2020
Branchiootic syndrome 31Oct 12, 2020
Breast carcinoma29Oct 12, 2020
Breast neoplasm7Oct 12, 2020
Breast-ovarian cancer, familial 133Oct 12, 2020
Breast-ovarian cancer, familial 228Apr 20, 2020
Breast-ovarian cancer, familial 38Oct 12, 2020
Breast-ovarian cancer, familial 45Oct 12, 2020
Bruck syndrome 11Oct 12, 2020
Brugada syndrome 19Oct 12, 2020
Brugada syndrome 51Oct 12, 2020
CFHR5 deficiency2Oct 12, 2020
CHARGE association5Oct 12, 2020
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome1Apr 20, 2020
Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth1Oct 12, 2020
Cardiac valvular dysplasia, X-linked1Apr 20, 2020
Cardiac, facial, and digital anomalies with developmental delay1Apr 20, 2020
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency1Apr 20, 2020
Cardiofaciocutaneous syndrome 11Apr 20, 2020
Cardiofaciocutaneous syndrome 31Apr 20, 2020
Cardiomyopathy1Apr 20, 2020
Cardiomyopathy, dilated, 1NN1Apr 20, 2020
Cardiomyopathy, familial hypertrophic, 262Oct 12, 2020
Carney complex, type 11Apr 20, 2020
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced1Apr 20, 2020
Cataract 11Apr 20, 2020
Cataract 15, multiple types1Apr 20, 2020
Cataract 182Oct 12, 2020
Cataract 41Oct 12, 2020
Cenani-Lenz syndactyly syndrome1Oct 12, 2020
Central core myopathy3Oct 12, 2020
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant1Apr 20, 2020
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 11Oct 12, 2020
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 25Oct 12, 2020
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1Apr 20, 2020
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21Apr 20, 2020
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 112Oct 12, 2020
Cerebral cavernous malformation1Apr 20, 2020
Cerebral cavernous malformations 21Feb 25, 2020
Cerebral cavernous malformations 31Oct 12, 2020
Cerebral palsy, spastic quadriplegic, 31Oct 8, 2020
Ceroid lipofuscinosis neuronal 21Oct 12, 2020
Charcot-Marie-Tooth Neuropathy X Type 12Apr 20, 2020
Charcot-Marie-Tooth disease axonal type 2K1Oct 12, 2020
Charcot-Marie-Tooth disease dominant intermediate d2Oct 12, 2020
Charcot-Marie-Tooth disease type 2D2Oct 12, 2020
Charcot-Marie-Tooth disease type 2E1Apr 20, 2020
Charcot-Marie-Tooth disease type 2P1Apr 20, 2020
Charcot-Marie-Tooth disease, axonal, type 2EE1Oct 12, 2020
Charcot-Marie-Tooth disease, axonal, type 2O5Oct 12, 2020
Charcot-Marie-Tooth disease, axonal, type 2T1Oct 12, 2020
Charcot-Marie-Tooth disease, dominant intermediate C1Oct 12, 2020
Charcot-Marie-Tooth disease, dominant intermediate E1Oct 12, 2020
Charcot-Marie-Tooth disease, type 1C1Apr 20, 2020
Charcot-Marie-Tooth disease, type 2A2A1Apr 20, 2020
Charcot-Marie-Tooth disease, type 2L1Apr 20, 2020
Charcot-Marie-Tooth disease, type 4B22Oct 12, 2020
Charcot-Marie-Tooth disease, type 4C2Oct 12, 2020
Charcot-Marie-Tooth disease, type 4D1Oct 12, 2020
Charcot-Marie-Tooth disease, type IA1Apr 20, 2020
Charlevoix-Saguenay spastic ataxia2Oct 12, 2020
Childhood hypophosphatasia1Oct 12, 2020
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1Oct 12, 2020
Cholestanol storage disease2Oct 12, 2020
Chondrodysplasia Blomstrand type1Oct 12, 2020
Chromosome 2q32-q33 deletion syndrome3Oct 12, 2020
Chromosome 2q37 deletion syndrome1Oct 12, 2020
Chromosome Xq28 deletion syndrome1Apr 20, 2020
Chronic kidney disease1Oct 12, 2020
Ciliary dyskinesia, primary, 141Oct 12, 2020
Ciliary dyskinesia, primary, 401Oct 12, 2020
Citrullinemia type II1Oct 12, 2020
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1Apr 20, 2020
Classic homocystinuria1Oct 8, 2020
Cleidocranial dysostosis2Oct 12, 2020
Clubfoot1Oct 12, 2020
Cobalamin C disease1Apr 20, 2020
Cockayne syndrome B1Apr 20, 2020
Coenzyme Q10 deficiency, primary, 41Apr 20, 2020
Coenzyme Q10 deficiency, primary, 61Oct 12, 2020
Coffin-Siris syndrome 110Oct 12, 2020
Coffin-Siris syndrome 101Oct 12, 2020
Coffin-Siris syndrome 61Oct 12, 2020
Coffin-Siris syndrome 82Oct 12, 2020
Cognitive impairment with or without cerebellar ataxia3Oct 12, 2020
Cohen syndrome6Oct 12, 2020
Cole disease1Oct 12, 2020
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation1Oct 12, 2020
Colorectal cancer3Oct 12, 2020
Colorectal polyposis1Oct 12, 2020
Combined cellular and humoral immune defects with granulomas1Apr 20, 2020
Combined immunodeficiency due to ZAP70 deficiency1Oct 12, 2020
Combined immunodeficiency, X-linked1Apr 20, 2020
Combined oxidative phosphorylation deficiency 351Oct 12, 2020
Combined oxidative phosphorylation deficiency 62Oct 12, 2020
Common variable immunodeficiency 101Oct 12, 2020
Common variable immunodeficiency 21Apr 20, 2020
Complement component 5 deficiency1Oct 12, 2020
Concentric hypertrophic cardiomyopathy2Nov 23, 2020
Cone dystrophy with supernormal rod response1Oct 12, 2020
Cone-rod dystrophy 151Oct 12, 2020
Cone-rod dystrophy 35Oct 12, 2020
Congenital anomalies of kidney and urinary tract27May 10, 2021
Congenital contractures of the limbs and face, hypotonia, and developmental delay2Oct 12, 2020
Congenital disorder of deglycosylation1Oct 12, 2020
Congenital disorder of glycosylation1Oct 12, 2020
Congenital disorder of glycosylation type 1C1Oct 12, 2020
Congenital disorder of glycosylation type 1t1Apr 20, 2020
Congenital disorder of glycosylation, type iit1Mar 7, 2021
Congenital heart defects and ectodermal dysplasia1Oct 12, 2020
Congenital hyperammonemia, type I1Apr 20, 2020
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies2Oct 12, 2020
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi2Oct 12, 2020
Congenital microvillous atrophy1Oct 12, 2020
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B11Oct 8, 2020
Congenital muscular hypertrophy-cerebral syndrome1Apr 20, 2020
Congenital myotonia, autosomal dominant form6Oct 12, 2020
Congenital stationary night blindness, type 1C1Oct 12, 2020
Congenital stationary night blindness, type 2A1Oct 12, 2020
Congenital stationary night blindness, type 2B1Apr 20, 2020
Cornelia de Lange syndrome 17Oct 12, 2020
Cornelia de Lange syndrome 32Oct 12, 2020
Cornelia de Lange syndrome 42Oct 12, 2020
Coronary heart disease 51Oct 12, 2020
Cortical dysplasia, complex, with other brain malformations 51Apr 20, 2020
Cortical malformations, occipital1Apr 20, 2020
Costello syndrome1Apr 20, 2020
Cowden syndrome 14Oct 12, 2020
Coxopodopatellar syndrome1Apr 20, 2020
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome2Feb 25, 2020
Craniosynostosis 31Oct 12, 2020
Craniosynostosis 71Apr 20, 2020
Creatine transporter deficiency4Oct 12, 2020
Creutzfeldt-Jakob Disease, Familial1Oct 12, 2020
Culler-Jones syndrome5Oct 12, 2020
Cutis laxa, autosomal dominant 11Oct 12, 2020
Cutis laxa, autosomal dominant 21Oct 12, 2020
Cutis laxa, autosomal dominant 31Apr 20, 2020
Cystic fibrosis1Oct 12, 2020
Cystic renal dysplasia1Oct 12, 2020
Cystinuria4Oct 12, 2020
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome1Apr 20, 2020
DOORS syndrome1Oct 12, 2020
Danon disease1Oct 12, 2020
Deafness, X-linked 41Apr 20, 2020
Deafness, X-linked 61Oct 12, 2020
Deafness, autosomal dominant 101Oct 12, 2020
Deafness, autosomal dominant 114Oct 12, 2020
Deafness, autosomal dominant 121Oct 12, 2020
Deafness, autosomal dominant 134Oct 12, 2020
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11Oct 12, 2020
Deafness, autosomal dominant 561Apr 20, 2020
Deafness, autosomal dominant 731Oct 12, 2020
Deafness, autosomal recessive 1A1Apr 20, 2020
Deafness, autosomal recessive 31Oct 12, 2020
Deafness, autosomal recessive 36, with or without vestibular involvement1Oct 8, 2020
Deficiency of 2-methylbutyryl-CoA dehydrogenase2Feb 25, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1Apr 20, 2020
Deficiency of alpha-mannosidase1Apr 20, 2020
Deficiency of butyryl-CoA dehydrogenase1Oct 12, 2020
Deficiency of ferroxidase1Oct 12, 2020
Deficiency of guanidinoacetate methyltransferase2Oct 12, 2020
Deficiency of ribose-5-phosphate isomerase1Apr 20, 2020
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1Oct 12, 2020
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency1Oct 12, 2020
Dent disease type 13Oct 12, 2020
Dent disease type 22Oct 12, 2020
Dermatitis, atopic, 21Apr 20, 2020
Desanto-shinawi syndrome1Apr 20, 2020
Developmental and epileptic encephalopathy 922Oct 12, 2020
Developmental and epileptic encephalopathy 9413Oct 12, 2020
Developmental and epileptic encephalopathy, 561Dec 11, 2020
Developmental and epileptic encephalopathy, 641Apr 20, 2020
Developmental and epileptic encephalopathy, 651Apr 20, 2020
Developmental and epileptic encephalopathy, 671Oct 12, 2020
Developmental and epileptic encephalopathy, 694Oct 12, 2020
Developmental and epileptic encephalopathy, 701Oct 12, 2020
Developmental and epileptic encephalopathy, 711Apr 20, 2020
Developmental and epileptic encephalopathy, 741Apr 20, 2020
Developmental and epileptic encephalopathy, 752Oct 12, 2020
Developmental and epileptic encephalopathy, 761Oct 12, 2020
Developmental and epileptic encephalopathy, 781Apr 20, 2020
Developmental and epileptic encephalopathy, 871Oct 12, 2020
Developmental delay and seizures with or without movement abnormalities1Apr 20, 2020
Developmental delay with or without dysmorphic facies and autism2Oct 12, 2020
Developmental delay with short stature, dysmorphic features, and sparse hair1Oct 12, 2020
Developmental delay with variable intellectual impairment and behavioral abnormalities1Oct 12, 2020
Developmental delay, intellectual disability, obesity, and dysmorphic features4Oct 12, 2020
Diabetes mellitus, insulin-dependent, 201Oct 12, 2020
Diaphragmatic hernia 31Oct 12, 2020
Diarrhea 5, with tufting enteropathy, congenital1Apr 20, 2020
Dilated cardiomyopathy 1A5Oct 12, 2020
Dilated cardiomyopathy 1CC1Oct 12, 2020
Dilated cardiomyopathy 1E2Oct 12, 2020
Dilated cardiomyopathy 1EE1Oct 12, 2020
Dilated cardiomyopathy 1G5Oct 12, 2020
Dilated cardiomyopathy 1GG1Oct 12, 2020
Dilated cardiomyopathy 1JJ1Oct 12, 2020
Dilated cardiomyopathy 1S8Oct 12, 2020
Distal arthrogryposis type 2B1Apr 20, 2020
Distal hereditary motor neuronopathy type 2B1Apr 20, 2020
Donnai-Barrow syndrome1Oct 12, 2020
Dowling-Degos disease 11Oct 12, 2020
Duchenne muscular dystrophy8Oct 12, 2020
Dyggve-Melchior-Clausen syndrome1Oct 12, 2020
Dyskeratosis congenita, autosomal dominant, 21Apr 20, 2020
Dyskinesia, familial, with facial myokymia2Apr 20, 2020
Dystonia 123Apr 20, 2020
Dystonia 28, childhood-onset2Oct 12, 2020
EAST syndrome1Apr 20, 2020
Early infantile epileptic encephalopathy 105Dec 11, 2020
Early infantile epileptic encephalopathy 1115Jan 20, 2021
Early infantile epileptic encephalopathy 1314Oct 12, 2020
Early infantile epileptic encephalopathy 142Apr 20, 2020
Early infantile epileptic encephalopathy 171Apr 20, 2020
Early infantile epileptic encephalopathy 181Oct 12, 2020
Early infantile epileptic encephalopathy 214Oct 12, 2020
Early infantile epileptic encephalopathy 211Apr 20, 2020
Early infantile epileptic encephalopathy 416Oct 12, 2020
Early infantile epileptic encephalopathy 513Oct 12, 2020
Early infantile epileptic encephalopathy 623Oct 12, 2020
Early infantile epileptic encephalopathy 710Oct 12, 2020
Early infantile epileptic encephalopathy 81Apr 20, 2020
Early infantile epileptic encephalopathy 99Oct 12, 2020
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1Apr 20, 2020
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal1Apr 20, 2020
Ehlers-Danlos syndrome classic type 23Oct 12, 2020
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1Apr 20, 2020
Ehlers-Danlos syndrome, classic type2Oct 12, 2020
Ehlers-Danlos syndrome, musculocontractural type2Oct 12, 2020
Ehlers-Danlos syndrome, periodontal type, 21Apr 20, 2020
Ehlers-Danlos syndrome, type 41Apr 20, 2020
Ehlers-danlos syndrome, arthrochalasia type, 21Oct 12, 2020
Eichsfeld type congenital muscular dystrophy1Oct 12, 2020
Elliptocytosis 21Apr 20, 2020
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Apr 20, 2020
Emery-Dreifuss muscular dystrophy 5, autosomal dominant2Oct 12, 2020
Encephalopathy due to defective mitochondrial and peroxisomal fission 11Apr 20, 2020
Encephalopathy, acute, infection-induced, 4, susceptibility to1Apr 20, 2020
Encephalopathy, familial, with neuroserpin inclusion bodies1Apr 20, 2020
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum1Feb 25, 2020
Endometrial carcinoma1Apr 20, 2020
Endplate acetylcholinesterase deficiency2Apr 20, 2020
Enterokinase deficiency1Oct 12, 2020
Epidermolysis bullosa simplex with muscular dystrophy2Oct 12, 2020
Epidermolytic palmoplantar keratoderma1Apr 20, 2020
Epilepsy17Mar 4, 2021
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1Apr 20, 2020
Epilepsy, childhood absence 21Apr 20, 2020
Epilepsy, familial adult myoclonic, 71Oct 12, 2020
Epilepsy, familial focal, with variable foci 15Oct 12, 2020
Epilepsy, familial focal, with variable foci 21Apr 20, 2020
Epilepsy, familial focal, with variable foci 36Oct 12, 2020
Epilepsy, familial focal, with variable foci 41Apr 20, 2020
Epilepsy, familial temporal lobe, 72Apr 20, 2020
Epilepsy, focal, with speech disorder and with or without mental retardation12Jan 20, 2021
Epilepsy, hearing loss, and mental retardation syndrome5Oct 12, 2020
Epilepsy, idiopathic generalized 101Oct 12, 2020
Epilepsy, idiopathic generalized, susceptibility to, 161Oct 12, 2020
Epilepsy, nocturnal frontal lobe, 54Oct 12, 2020
Epilepsy, nocturnal frontal lobe, type 31Oct 12, 2020
Epilepsy, nocturnal frontal lobe, type 41Oct 12, 2020
Epilepsy, progressive myoclonic 71Oct 12, 2020
Epileptic encephalopathy, early infantile, 19Oct 12, 2020
Epileptic encephalopathy, early infantile, 192Apr 20, 2020
Epileptic encephalopathy, early infantile, 231Oct 12, 2020
Epileptic encephalopathy, early infantile, 242Oct 12, 2020
Epileptic encephalopathy, early infantile, 251Apr 20, 2020
Epileptic encephalopathy, early infantile, 267Oct 12, 2020
Epileptic encephalopathy, early infantile, 273Oct 12, 2020
Epileptic encephalopathy, early infantile, 283Apr 20, 2020
Epileptic encephalopathy, early infantile, 291Oct 12, 2020
Epileptic encephalopathy, early infantile, 313Oct 12, 2020
Epileptic encephalopathy, early infantile, 321Apr 20, 2020
Epileptic encephalopathy, early infantile, 332Oct 12, 2020
Epileptic encephalopathy, early infantile, 364Oct 12, 2020
Epileptic encephalopathy, early infantile, 371Oct 8, 2020
Epileptic encephalopathy, early infantile, 382Oct 12, 2020
Epileptic encephalopathy, early infantile, 4215Oct 12, 2020
Epileptic encephalopathy, early infantile, 433Oct 12, 2020
Epileptic encephalopathy, early infantile, 442Oct 12, 2020
Epileptic encephalopathy, early infantile, 452Oct 12, 2020
Epileptic encephalopathy, early infantile, 461Apr 20, 2020
Epileptic encephalopathy, early infantile, 511Oct 12, 2020
Epileptic encephalopathy, early infantile, 541Apr 20, 2020
Epiphyseal chondrodysplasia, miura type2Apr 20, 2020
Epiphyseal dysplasia, multiple, 21Oct 12, 2020
Episodic ataxia1Oct 12, 2020
Episodic ataxia type 22Apr 20, 2020
Episodic ataxia, type 61Oct 12, 2020
Episodic kinesigenic dyskinesia 11Feb 25, 2020
Episodic pain syndrome, familial, 21Oct 12, 2020
Exudative vitreoretinopathy 11Oct 12, 2020
Exudative vitreoretinopathy 51Apr 20, 2020
FG syndrome 42Apr 20, 2020
FRAXE2Oct 12, 2020
Fabry disease2Oct 12, 2020
Familial adenomatous polyposis 15Oct 12, 2020
Familial cancer of breast114Oct 12, 2020
Familial hemiplegic migraine type 11Apr 20, 2020
Familial hemiplegic migraine type 22Apr 20, 2020
Familial hemophagocytic lymphohistiocytosis 21Apr 20, 2020
Familial hypercholesterolemia 135Oct 12, 2020
Familial hypercholesterolemia 216Oct 12, 2020
Familial hypercholesterolemia 33Oct 12, 2020
Familial hyperkalemic periodic paralysis1Apr 20, 2020
Familial hypertriglyceridemia1Oct 12, 2020
Familial hypertrophic cardiomyopathy 11Apr 20, 2020
Familial hypertrophic cardiomyopathy 101Apr 20, 2020
Familial hypertrophic cardiomyopathy 201Apr 20, 2020
Familial hypertrophic cardiomyopathy 31Oct 12, 2020
Familial hypertrophic cardiomyopathy 46Oct 12, 2020
Familial hypertrophic cardiomyopathy 98Oct 12, 2020
Familial hypokalemia-hypomagnesemia1Apr 20, 2020
Familial mediterranean fever, autosomal dominant4Oct 12, 2020
Familial partial lipodystrophy 21Apr 20, 2020
Familial partial lipodystrophy 33Oct 12, 2020
Familial partial lipodystrophy 41Apr 20, 2020
Familial renal glucosuria1Apr 20, 2020
Familial temporal lobe epilepsy 11Oct 12, 2020
Familial visceral amyloidosis, Ostertag type1Oct 12, 2020
Fanconi anemia, complementation group A1Apr 20, 2020
Fanconi anemia, complementation group B1Oct 12, 2020
Fanconi anemia, complementation group C1Oct 12, 2020
Fanconi-Bickel syndrome1Apr 20, 2020
Fetal hemoglobin quantitative trait locus 12Oct 12, 2020
Filippi syndrome1Oct 8, 2020
Finnish congenital nephrotic syndrome1Oct 12, 2020
Floating-Harbor syndrome2Oct 12, 2020
Focal cortical dysplasia type II2Apr 20, 2020
Focal segmental glomerulosclerosis 11Apr 20, 2020
Focal segmental glomerulosclerosis 22Oct 12, 2020
Focal segmental glomerulosclerosis 51Apr 20, 2020
Focal segmental glomerulosclerosis 61Oct 12, 2020
Focal segmental glomerulosclerosis 72Apr 20, 2020
Frontotemporal dementia and/or amyotrophic lateral sclerosis 33Oct 12, 2020
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41Apr 20, 2020
Fucosidosis1Oct 8, 2020
Fumarase deficiency2Apr 20, 2020
GLUT1 deficiency syndrome 16Apr 20, 2020
GM1 gangliosidosis type 21Oct 12, 2020
GNE myopathy1Oct 12, 2020
Galactosylceramide beta-galactosidase deficiency4Oct 12, 2020
Gaze palsy, familial horizontal, with progressive scoliosis 119Feb 5, 2021
Generalized dominant dystrophic epidermolysis bullosa1Apr 20, 2020
Generalized epilepsy with febrile seizures plus, type 11Apr 20, 2020
Generalized epilepsy with febrile seizures plus, type 101Oct 12, 2020
Generalized epilepsy with febrile seizures plus, type 216Oct 12, 2020
Generalized epilepsy with febrile seizures plus, type 71Oct 12, 2020
Generalized juvenile polyposis/juvenile polyposis coli1Apr 20, 2020
Gingival fibromatosis-hypertrichosis syndrome1Oct 12, 2020
Glaucoma 3, primary congenital, A2Oct 12, 2020
Global developmental delay with or without impaired intellectual development7Oct 12, 2020
Glomerulopathy with fibronectin deposits 21Apr 20, 2020
Glutaric aciduria, type 12Oct 8, 2020
Glycogen storage disease IXb1Oct 12, 2020
Glycogen storage disease IXd1Oct 12, 2020
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2Oct 12, 2020
Glycogen storage disease type III1Oct 12, 2020
Glycogen storage disease type IXa12Oct 12, 2020
Glycogen storage disease, type II1Oct 12, 2020
Glycogen storage disease, type VI1Oct 12, 2020
Glycosylphosphatidylinositol biosynthesis defect 161Oct 12, 2020
Gordon syndrome1Apr 20, 2020
Gorlin syndrome3Apr 20, 2020
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions1Oct 12, 2020
Growth delay due to insulin-like growth factor I resistance4Oct 12, 2020
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1Apr 20, 2020
Growth restriction, severe, with distinctive facies2Apr 20, 2020
HSD10 disease1Apr 20, 2020
Hajdu-Cheney syndrome1Apr 20, 2020
Hartsfield syndrome1Oct 12, 2020
Heart, malformation of4Jan 15, 2021
Hecht syndrome1Oct 12, 2020
Heimler syndrome 11Oct 12, 2020
Heimler syndrome 21Oct 12, 2020
Helsmoortel-Van der Aa Syndrome7Oct 12, 2020
Hereditary acrodermatitis enteropathica1Apr 20, 2020
Hereditary angioedema type 12Apr 20, 2020
Hereditary cerebral amyloid angiopathy, Icelandic type1Apr 20, 2020
Hereditary diffuse gastric cancer2Apr 20, 2020
Hereditary diffuse leukoencephalopathy with spheroids5Oct 12, 2020
Hereditary hemorrhagic telangiectasia type 11Apr 20, 2020
Hereditary insensitivity to pain with anhidrosis1Oct 12, 2020
Hereditary nonpolyposis colorectal cancer type 47Oct 12, 2020
Hereditary nonpolyposis colorectal cancer type 57Oct 12, 2020
Hereditary sensory neuropathy type 1D1Apr 20, 2020
Hereditary spastic paraplegia 151Oct 12, 2020
Hereditary spastic paraplegia 5A1Apr 20, 2020
Hereditary spastic paraplegia 61Oct 12, 2020
Hereditary spastic paraplegia 75Oct 12, 2020
Hereditary spastic paraplegia 9A1Apr 20, 2020
Hermansky-Pudlak syndrome 11Oct 12, 2020
Heterotaxy, visceral, 1, X-linked1Oct 12, 2020
Heterotaxy, visceral, 8, autosomal2Oct 12, 2020
Heterotopia, periventricular, autosomal recessive1Oct 12, 2020
Hidrotic ectodermal dysplasia syndrome1Apr 20, 2020
Holoprosencephaly 33Oct 12, 2020
Homocystinuria due to methylene tetrahydrofolate reductase deficiency2Oct 8, 2020
Huntington disease2Oct 12, 2020
Huntington disease-like 21Apr 20, 2020
Hurler syndrome1Oct 12, 2020
Hydrops fetalis2Nov 23, 2020
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1Apr 20, 2020
Hyper-IgM syndrome type 11Apr 20, 2020
Hyperaldosteronism1Oct 12, 2020
Hypercholesterolemia2Oct 12, 2020
Hyperekplexia 11Oct 12, 2020
Hyperglycinuria1Oct 12, 2020
Hyperinsulinemic hypoglycemia, familial, 13Oct 12, 2020
Hyperinsulinism-hyperammonemia syndrome1Oct 12, 2020
Hyperlipidemia, familial combined, LPL related2Oct 12, 2020
Hyperlipoproteinemia, type ID2Oct 12, 2020
Hyperphosphatasia with mental retardation syndrome 11Oct 12, 2020
Hyperphosphatasia with mental retardation syndrome 31Oct 8, 2020
Hypertrophic cardiomyopathy2Nov 23, 2020
Hypertrophic cardiomyopathy 251Apr 20, 2020
Hypocalcemia, autosomal dominant 11Apr 20, 2020
Hypocalciuric hypercalcemia, familial, type III1Oct 12, 2020
Hypochondroplasia2Oct 12, 2020
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)2Apr 20, 2020
Hypogonadotropic hypogonadism 16 with or without anosmia1Oct 12, 2020
Hypogonadotropic hypogonadism 2 with or without anosmia1Apr 20, 2020
Hypogonadotropic hypogonadism 6 with or without anosmia1Oct 12, 2020
Hypogonadotropic hypogonadism 7 with or without anosmia1Apr 20, 2020
Hypogonadotropic hypogonadism 9 with or without anosmia1Apr 20, 2020
Hypokalemic periodic paralysis 17Oct 12, 2020
Hypomyelinating leukodystrophy 71Apr 20, 2020
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism2Oct 12, 2020
Hypomyelination with brainstem and spinal cord involvement and leg spasticity1Oct 12, 2020
Hypomyelination, global cerebral1Oct 12, 2020
Hypoplastic enamel-onycholysis-hypohidrosis syndrome1Oct 12, 2020
Hypospadias 2, X-linked1Oct 12, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22Oct 12, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Oct 8, 2020
Hystrix-like ichthyosis with deafness1Oct 12, 2020
IL21R immunodeficiency1Oct 12, 2020
Ichthyosis vulgaris1Oct 12, 2020
Idiopathic basal ganglia calcification 51Apr 20, 2020
Idiopathic generalized epilepsy1Apr 20, 2020
Idiopathic nephrotic syndrome2Oct 12, 2020
Immunodeficiency 141Oct 12, 2020
Immunodeficiency 27b1Oct 12, 2020
Immunodeficiency 31C1Apr 20, 2020
Immunodeficiency 361Oct 12, 2020
Immunodeficiency 401Oct 12, 2020
Immunodeficiency 501Oct 12, 2020
Immunodeficiency 641Oct 12, 2020
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency1Oct 12, 2020
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia1Apr 20, 2020
Immunodeficiency, common variable, 124Oct 12, 2020
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11Apr 20, 2020
Increased nuchal translucency1Jan 15, 2021
Infantile cerebellar-retinal degeneration1Oct 12, 2020
Infantile convulsions and choreoathetosis2Apr 20, 2020
Infantile cortical hyperostosis3Oct 12, 2020
Infantile nystagmus, X-linked1Apr 20, 2020
Insulin-resistant diabetes mellitus AND acanthosis nigricans1Apr 20, 2020
Intellectual developmental disorder with cardiac arrhythmia1Oct 12, 2020
Intellectual developmental disorder with cardiac defects and dysmorphic facies1Mar 7, 2021
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities3Oct 12, 2020
Intellectual developmental disorder with dysmorphic facies and ptosis1Oct 12, 2020
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Apr 20, 2020
Intellectual developmental disorder with hypotonia and behavioral abnormalities1Oct 12, 2020
Intellectual developmental disorder with macrocephaly, seizures, and speech delay2Oct 12, 2020
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia2Oct 12, 2020
Intellectual developmental disorder with persistence of fetal hemoglobin2Apr 20, 2020
Intellectual developmental disorder with severe speech and ambulation defects1Apr 20, 2020
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1Apr 20, 2020
Intellectual developmental disorder, autosomal recessive 682Oct 12, 2020
Intellectual disability100Mar 8, 2021
Intellectual disability, X-linked 212Oct 12, 2020
Intellectual disability, X-linked, syndromic, Houge type2Apr 20, 2020
Intellectual disability, autosomal dominant 453Oct 12, 2020
Intellectual disability, autosomal dominant 461Apr 20, 2020
Intellectual disability, autosomal dominant 471Oct 12, 2020
Intellectual disability, autosomal dominant 495Oct 12, 2020
Intellectual disability, autosomal dominant 501Oct 12, 2020
Intellectual disability, autosomal dominant 511Apr 20, 2020
Intellectual disability, autosomal dominant 541Apr 20, 2020
Intellectual disability, autosomal dominant 55, with seizures1Apr 20, 2020
Intellectual disability, autosomal dominant 561Oct 12, 2020
Intellectual disability, autosomal dominant 582Apr 20, 2020
Intellectual disability, autosomal dominant 94Oct 12, 2020
Intellectual disability, autosomal recessive 651Apr 20, 2020
Intellectual disability, autosomal recessive 661Oct 8, 2020
Intellectual disability, mild1Jan 20, 2021
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1Oct 12, 2020
Isovaleryl-CoA dehydrogenase deficiency2Oct 12, 2020
Johanson-Blizzard syndrome1Oct 12, 2020
Joubert syndrome 101Oct 12, 2020
Joubert syndrome 172Oct 12, 2020
Joubert syndrome 211Oct 12, 2020
Joubert syndrome 231Oct 8, 2020
Joubert syndrome 32Oct 8, 2020
Joubert syndrome 41Oct 12, 2020
Joubert syndrome 52Oct 12, 2020
KBG syndrome10Oct 12, 2020
Kabuki syndrome 112Oct 12, 2020
Kabuki syndrome 21Oct 12, 2020
Kaufman oculocerebrofacial syndrome2Oct 8, 2020
Kleefstra syndrome 14Oct 12, 2020
Kleefstra syndrome 25Oct 12, 2020
Klippel-Feil syndrome 1, autosomal dominant1Apr 20, 2020
Klippel-Feil syndrome 3, autosomal dominant1Oct 12, 2020
Kniest dysplasia1Apr 20, 2020
Knobloch syndrome 12Oct 12, 2020
Koolen-de Vries syndrome1Apr 20, 2020
Kufor-Rakeb syndrome2Oct 12, 2020
L-2-hydroxyglutaric aciduria1Oct 8, 2020
LEOPARD syndrome 13Apr 20, 2020
Lafora disease1Oct 12, 2020
Lamb-shaffer syndrome5Oct 12, 2020
Leber congenital amaurosis 81Oct 12, 2020
Left ventricular noncompaction 106Oct 12, 2020
Left ventricular noncompaction 64Oct 12, 2020
Lenz-Majewski hyperostosis syndrome2Oct 12, 2020
Lethal congenital contracture syndrome 101Oct 12, 2020
Leucine-induced hypoglycemia1Apr 20, 2020
Leukodystrophy and acquired microcephaly with or without dystonia1Oct 12, 2020
Leukodystrophy, hypomyelinating, 111Oct 12, 2020
Leukodystrophy, hypomyelinating, 121Apr 20, 2020
Leukodystrophy, hypomyelinating, 181Oct 8, 2020
Leukodystrophy, hypomyelinating, 41Apr 20, 2020
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1Oct 8, 2020
Leukoencephalopathy with vanishing white matter4Oct 12, 2020
Leukoencephalopathy, progressive, with ovarian failure1Oct 12, 2020
Li-Fraumeni syndrome 15Oct 12, 2020
Lig4 syndrome1Oct 12, 2020
Limb-girdle muscular dystrophy, type 1B1Apr 20, 2020
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51Apr 20, 2020
Lipoprotein glomerulopathy1Oct 12, 2020
Lissencephaly 36Oct 12, 2020
Lissencephaly 81Mar 7, 2021
Lissencephaly 9 with complex brainstem malformation2Oct 12, 2020
Lissencephaly due to LIS1 mutation4Oct 12, 2020
Lissencephaly, X-linked1Apr 20, 2020
Localized epidermolysis bullosa simplex1Oct 12, 2020
Loeys-Dietz syndrome 32Oct 12, 2020
Long QT syndrome 19Oct 12, 2020
Long QT syndrome 25Oct 12, 2020
Luscan-lumish syndrome2Apr 20, 2020
Lymphedema, primary, with myelodysplasia1Oct 12, 2020
Lymphoproliferative syndrome 2, X-linked1Apr 20, 2020
Lynch syndrome I9Oct 12, 2020
Lynch syndrome II9Oct 12, 2020
Lysosomal acid lipase deficiency1Apr 20, 2020
MASA syndrome1Oct 12, 2020
MYH-associated polyposis1Apr 20, 2020
Macrocephaly, acquired, with impaired intellectual development3Oct 12, 2020
Macular dystrophy, patterned, 11Oct 12, 2020
Macular dystrophy, vitelliform, adult-onset2Apr 20, 2020
Malignant hyperthermia, susceptibility to, 113Oct 12, 2020
Mandibulofacial dysostosis-microcephaly syndrome2Oct 12, 2020
Maple syrup urine disease1Oct 12, 2020
Marfan syndrome8Oct 12, 2020
Marinesco-Sjögren syndrome1Oct 12, 2020
Marshall syndrome4Oct 12, 2020
Maturity-onset diabetes of the young, type 23Apr 20, 2020
Maturity-onset diabetes of the young, type 31Apr 20, 2020
Meckel syndrome, type 33Oct 12, 2020
Meckel syndrome, type 41Oct 12, 2020
Megalencephaly-capillary malformation-polymicrogyria syndrome2Oct 12, 2020
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 12Oct 12, 2020
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31Apr 20, 2020
Meier-Gorlin syndrome 41Oct 12, 2020
Melnick-Needles syndrome3Oct 12, 2020
Menke-Hennekam syndrome 11Apr 20, 2020
Menkes kinky-hair syndrome2Apr 20, 2020
Mental retardation 3, X-linked2Oct 12, 2020
Mental retardation 30, X-linked1Oct 12, 2020
Mental retardation 49, X-linked2Oct 12, 2020
Mental retardation 63, X-linked1Oct 12, 2020
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1Apr 20, 2020
Mental retardation and distinctive facial features with or without cardiac defects12Oct 12, 2020
Mental retardation and microcephaly with pontine and cerebellar hypoplasia2Apr 20, 2020
Mental retardation with language impairment and with or without autistic features8Oct 12, 2020
Mental retardation, X-linked 14Oct 12, 2020
Mental retardation, X-linked 1024Apr 20, 2020
Mental retardation, X-linked 1031Apr 20, 2020
Mental retardation, X-linked 1042Oct 12, 2020
Mental retardation, X-linked 191Apr 20, 2020
Mental retardation, X-linked 931Oct 12, 2020
Mental retardation, X-linked 961Oct 12, 2020
Mental retardation, X-linked 981Oct 12, 2020
Mental retardation, X-linked 991Oct 12, 2020
Mental retardation, X-linked 99, syndromic, female-restricted1Apr 20, 2020
Mental retardation, X-linked, syndromic 131Apr 20, 2020
Mental retardation, X-linked, syndromic 331Jan 20, 2021
Mental retardation, X-linked, syndromic 341Feb 25, 2020
Mental retardation, X-linked, syndromic, Bain type1Oct 8, 2020
Mental retardation, X-linked, syndromic, wu type1Oct 12, 2020
Mental retardation, autosomal dominant 11Oct 12, 2020
Mental retardation, autosomal dominant 1311Oct 12, 2020
Mental retardation, autosomal dominant 146Oct 12, 2020
Mental retardation, autosomal dominant 162Oct 12, 2020
Mental retardation, autosomal dominant 182Oct 12, 2020
Mental retardation, autosomal dominant 192Apr 20, 2020
Mental retardation, autosomal dominant 212Oct 12, 2020
Mental retardation, autosomal dominant 222Apr 20, 2020
Mental retardation, autosomal dominant 243Oct 12, 2020
Mental retardation, autosomal dominant 263Oct 12, 2020
Mental retardation, autosomal dominant 271Apr 20, 2020
Mental retardation, autosomal dominant 292Oct 12, 2020
Mental retardation, autosomal dominant 3012Apr 19, 2021
Mental retardation, autosomal dominant 341Apr 20, 2020
Mental retardation, autosomal dominant 351Apr 20, 2020
Mental retardation, autosomal dominant 364Oct 12, 2020
Mental retardation, autosomal dominant 393Oct 12, 2020
Mental retardation, autosomal dominant 411Apr 20, 2020
Mental retardation, autosomal dominant 424Oct 12, 2020
Mental retardation, autosomal dominant 432Oct 12, 2020
Mental retardation, autosomal dominant 447Oct 12, 2020
Mental retardation, autosomal dominant 55Oct 12, 2020
Mental retardation, autosomal dominant 672May 12, 2020
Mental retardation, autosomal dominant 75Oct 12, 2020
Mental retardation, autosomal recessive 131Oct 8, 2020
Mental retardation, autosomal recessive 151Oct 8, 2020
Mental retardation, autosomal recessive 21Oct 8, 2020
Mental retardation, autosomal recessive 271Oct 8, 2020
Mental retardation, autosomal recessive 32Oct 12, 2020
Mental retardation, autosomal recessive 361Oct 12, 2020
Mental retardation, autosomal recessive 382Oct 12, 2020
Mental retardation, autosomal recessive 391Oct 12, 2020
Mental retardation, autosomal recessive 423Oct 12, 2020
Mental retardation, autosomal recessive 462Oct 8, 2020
Mental retardation, autosomal recessive 571Oct 8, 2020
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations5Oct 12, 2020
Mental retardation, syndromic, Claes-Jensen type, X-linked2Oct 12, 2020
Merosin deficient congenital muscular dystrophy1Oct 8, 2020
Metachromatic leukodystrophy4Oct 12, 2020
Metaphyseal chondrodysplasia, Schmid type2Apr 20, 2020
Methylmalonic acidemia with homocystinuria, type cblJ1Oct 12, 2020
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant2Apr 20, 2020
Microcephalic osteodysplastic primordial dwarfism type II2Oct 12, 2020
Microcephaly1Jan 20, 2021
Microcephaly 18, primary, autosomal dominant2Apr 20, 2020
Microcephaly and chorioretinopathy, autosomal recessive, 31Oct 12, 2020
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1Apr 20, 2020
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy1Oct 12, 2020
Microcephaly, short stature, and impaired glucose metabolism 11Oct 8, 2020
Migraine1Oct 12, 2020
Mitochondrial DNA depletion syndrome 111Oct 8, 2020
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1Apr 20, 2020
Mitochondrial DNA depletion syndrome 16 (hepatic type)1Oct 12, 2020
Mitochondrial complex 1 deficiency, nuclear type 191Oct 8, 2020
Mitral valve prolapse 21Oct 12, 2020
Monocarboxylate transporter 1 deficiency1Oct 12, 2020
Mowat-Wilson syndrome5Oct 12, 2020
Moyamoya disease 6 with achalasia1Oct 12, 2020
Mucolipidosis type II1Oct 12, 2020
Mucopolysaccharidosis, MPS-III-A2Oct 12, 2020
Mucopolysaccharidosis, MPS-III-C1Oct 8, 2020
Mucopolysaccharidosis, MPS-III-D1Apr 20, 2020
Muir-Torré syndrome1Oct 12, 2020
Multiple congenital anomalies-hypotonia-seizures syndrome 12Oct 12, 2020
Multiple congenital anomalies-hypotonia-seizures syndrome 22Oct 8, 2020
Multiple congenital anomalies-hypotonia-seizures syndrome 31Oct 12, 2020
Multiple congenital exostosis2Oct 12, 2020
Multiple endocrine neoplasia, type 13Oct 12, 2020
Multiple endocrine neoplasia, type 2a1Apr 20, 2020
Multiple endocrine neoplasia, type 2b4Oct 12, 2020
Multiple endocrine neoplasia, type 41Oct 12, 2020
Multiple epiphyseal dysplasia type 41Apr 20, 2020
Multiple exostoses type 21Oct 12, 2020
Multiple fibrofolliculomas1Oct 12, 2020
Muscle eye brain disease1Oct 12, 2020
Muscular dystrophy, congenital, due to integrin alpha-7 deficiency1Apr 20, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11Oct 12, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 91Oct 12, 2020
Myasthenia, limb-girdle, familial1Apr 20, 2020
Myasthenic syndrome, congenital, 191Apr 20, 2020
Myasthenic syndrome, congenital, 221Apr 20, 2020
Myasthenic syndrome, congenital, 7, presynaptic1Apr 20, 2020
Myeloperoxidase deficiency1Oct 12, 2020
Myhre syndrome2Apr 20, 2020
Myoclonic-atonic epilepsy3Oct 12, 2020
Myoclonus, intractable, neonatal1Oct 12, 2020
Myopathy with postural muscle atrophy, X-linked1Oct 12, 2020
Myopathy, distal, 6, adult-onset, autosomal dominant1Oct 12, 2020
Myopathy, early-onset, with fatal cardiomyopathy1Oct 12, 2020
Myopathy, myofibrillar, 9, with early respiratory failure1Oct 12, 2020
Myopathy, proximal, and ophthalmoplegia1Apr 20, 2020
Myosin storage myopathy2Apr 20, 2020
N-terminal acetyltransferase deficiency2Oct 12, 2020
Nail-patella syndrome2Oct 12, 2020
Nemaline myopathy 11Apr 20, 2020
Nemaline myopathy 23Oct 12, 2020
Nemaline myopathy 31Apr 20, 2020
Neoplasm of ovary4Oct 12, 2020
Nephronophthisis 163Feb 5, 2021
Nephrotic syndrome, type 41Apr 20, 2020
Neu-Laxova syndrome 11Oct 12, 2020
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1Apr 20, 2020
Neurodegeneration with brain iron accumulation 2b2Oct 8, 2020
Neurodegeneration with brain iron accumulation 56Oct 12, 2020
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline1Mar 7, 2021
Neurodevelopmental delay15Jan 28, 2021
Neurodevelopmental disorder40Oct 12, 2020
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities2Oct 8, 2020
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies1Jan 28, 2021
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities2Oct 12, 2020
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures1Oct 12, 2020
Neurodevelopmental disorder with hypotonia, seizures, and absent language2Oct 12, 2020
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia1Oct 12, 2020
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1Oct 12, 2020
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies1Feb 25, 2020
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy2Feb 25, 2020
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features2Oct 12, 2020
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart2Oct 12, 2020
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant3Oct 12, 2020
Neurodevelopmental disorder with or without seizures and gait abnormalities2Apr 20, 2020
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA11May 12, 2020
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Oct 12, 2020
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements1Oct 12, 2020
Neurofibromatosis, type 116Oct 12, 2020
Neurohypophyseal diabetes insipidus1Apr 20, 2020
Neuronal ceroid lipofuscinosis 31Apr 20, 2020
Neuronopathy, distal hereditary motor, type viia1Apr 20, 2020
Neuropathy, hereditary sensory and autonomic, type VIII1Apr 20, 2020
Nicolaides-Baraitser syndrome10Oct 12, 2020
Niemann-Pick disease type C11Apr 20, 2020
Niemann-Pick disease, type A2Oct 12, 2020
Non-ketotic hyperglycinemia3Oct 12, 2020
Noncompaction cardiomyopathy2Nov 23, 2020
Noonan syndrome 12Apr 20, 2020
Noonan syndrome 31Feb 25, 2020
Noonan syndrome 41Apr 20, 2020
Noonan syndrome 81Apr 20, 2020
Noonan syndrome 91Apr 20, 2020
Noonan syndrome-like disorder with loose anagen hair 11Apr 20, 2020
Norman-Roberts syndrome1Oct 12, 2020
O'Donnell-Luria-Rodan syndrome2Oct 12, 2020
Obesity2Apr 20, 2020
Obesity, hyperphagia, and developmental delay1Oct 12, 2020
Ocular albinism, type II1Apr 20, 2020
Oculofaciocardiodental syndrome2Apr 20, 2020
Oculootoradial syndrome2Oct 12, 2020
Okur-chung neurodevelopmental syndrome2Apr 20, 2020
Opitz GBBB syndrome, type II1Oct 12, 2020
Ornithine carbamoyltransferase deficiency1Oct 12, 2020
Osteochondritis dissecans6Apr 20, 2020
Osteogenesis imperfecta type 71Oct 12, 2020
Osteogenesis imperfecta type 82Oct 12, 2020
Osteogenesis imperfecta type I6Oct 12, 2020
Osteogenesis imperfecta with normal sclerae, dominant form1Apr 20, 2020
Osteogenesis imperfecta, type xv1Feb 25, 2020
Osteopathia striata with cranial sclerosis2Oct 12, 2020
Ovarian carcinoma1Oct 12, 2020
PRRT2 insufficiency1Oct 8, 2020
Paget disease of bone 31Apr 20, 2020
Palmoplantar keratoderma, punctate type 1A1Oct 12, 2020
Paragangliomas 22Oct 12, 2020
Paramyotonia congenita of von Eulenburg1Apr 20, 2020
Parastremmatic dwarfism1Apr 20, 2020
Parkinson disease 23, autosomal recessive early-onset1Oct 12, 2020
Parkinson disease 8, autosomal dominant1Apr 20, 2020
Parkinson disease, late-onset1Apr 20, 2020
Paroxysmal nonkinesigenic dyskinesia 12Apr 20, 2020
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy3Apr 20, 2020
Peeling skin syndrome 61Oct 12, 2020
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease1Apr 20, 2020
Periventricular nodular heterotopia 11Apr 20, 2020
Perlman syndrome1Oct 12, 2020
Peroxisomal acyl-CoA oxidase deficiency1Oct 12, 2020
Peroxisome biogenesis disorder 2B1Apr 20, 2020
Perrault syndrome 41Oct 12, 2020
Perry syndrome1Apr 20, 2020
Peutz-Jeghers syndrome1Oct 12, 2020
Phenylketonuria6Oct 12, 2020
Pierpont syndrome2Oct 12, 2020
Pigmented nodular adrenocortical disease, primary, 21Oct 12, 2020
Pilarowski-Bjornsson syndrome1Oct 12, 2020
Pitt-Hopkins syndrome2Oct 12, 2020
Pitt-Hopkins-like syndrome 21Apr 20, 2020
Pituitary hormone deficiency, combined, 11Apr 20, 2020
Pituitary stalk interruption syndrome5May 10, 2021
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease1Apr 20, 2020
Poirier-Bienvenu neurodevelopmental syndrome1Apr 20, 2020
Polycystic kidney disease 44Apr 19, 2021
Polycystic kidney disease, adult type10Apr 19, 2021
Polycystic liver disease 11Oct 12, 2020
Polymicrogyria, asymmetric3Oct 12, 2020
Polymicrogyria, bilateral frontoparietal4Oct 8, 2020
Polyneuropathy1Oct 12, 2020
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal1Oct 12, 2020
Pontocerebellar hypoplasia type 2A1Apr 20, 2020
Pontocerebellar hypoplasia type 41Oct 12, 2020
Pontocerebellar hypoplasia, type 101Oct 8, 2020
Pontocerebellar hypoplasia, type 1b1Oct 12, 2020
Pontocerebellar hypoplasia, type 2f1Oct 8, 2020
Porencephaly 22Oct 12, 2020
Potassium-aggravated myotonia1Apr 20, 2020
Premature ovarian failure 151Oct 12, 2020
Premature ovarian failure 2a1Oct 12, 2020
Primary autosomal recessive microcephaly 11Oct 12, 2020
Primary autosomal recessive microcephaly 101Oct 12, 2020
Primary autosomal recessive microcephaly 22Oct 12, 2020
Primary autosomal recessive microcephaly 71Oct 12, 2020
Primary hypomagnesemia1Oct 12, 2020
Progressive familial heart block type IB3Oct 12, 2020
Progressive myoclonus epilepsy with ataxia1Oct 12, 2020
Progressive sclerosing poliodystrophy5Oct 12, 2020
Propionic acidemia1Oct 12, 2020
Prostate cancer/brain cancer susceptibility1Oct 12, 2020
Pseudohypoaldosteronism type 2E1Apr 20, 2020
Pseudohypoparathyroidism2Apr 20, 2020
Pseudohypoparathyroidism type 1B1Oct 12, 2020
Pseudoxanthoma elasticum1Oct 12, 2020
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 11Apr 20, 2020
Pyridoxal phosphate-responsive seizures2Apr 20, 2020
Pyridoxine-dependent epilepsy1Oct 12, 2020
Pyruvate dehydrogenase E1-alpha deficiency3Oct 12, 2020
Pyruvate kinase deficiency of red cells1Oct 12, 2020
Rahman syndrome2Oct 12, 2020
Recessive dystrophic epidermolysis bullosa1Apr 20, 2020
Recurrent infections1Oct 12, 2020
Renal cyst1Oct 12, 2020
Renal cysts and diabetes syndrome1Apr 20, 2020
Renal neoplasm1Apr 20, 2020
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation1Apr 20, 2020
Renpenning syndrome 11Oct 12, 2020
Retinitis pigmentosa 11Oct 12, 2020
Retinitis pigmentosa 151Apr 20, 2020
Retinitis pigmentosa 252Oct 12, 2020
Retinitis pigmentosa 301Oct 12, 2020
Retinitis pigmentosa 311Oct 12, 2020
Retinitis pigmentosa 393Oct 12, 2020
Retinitis pigmentosa 44Oct 12, 2020
Retinitis pigmentosa 421Apr 20, 2020
Retinitis pigmentosa 451Oct 12, 2020
Retinitis pigmentosa 601Apr 20, 2020
Retinitis pigmentosa 761Oct 12, 2020
Rett syndrome12Oct 12, 2020
Rett syndrome, congenital variant2Apr 20, 2020
Ritscher-Schinzel syndrome 11Oct 12, 2020
Ritscher-schinzel syndrome 22Apr 20, 2020
Rubinstein-Taybi syndrome 14Oct 12, 2020
Rubinstein-Taybi syndrome 26Oct 12, 2020
SHORT syndrome1Apr 20, 2020
SLC39A8-CDG1Oct 8, 2020
Sandhoff disease1Oct 12, 2020
Sarcoma1Oct 12, 2020
Schaaf-Yang syndrome1Oct 12, 2020
Schuurs-hoeijmakers syndrome1Oct 12, 2020
Schwartz-Jampel syndrome1Oct 12, 2020
Seckel syndrome 61Oct 12, 2020
Secondary hypothyroidism1Apr 20, 2020
Seizures4Oct 12, 2020
Seizures, benign familial infantile, 24Oct 12, 2020
Seizures, benign familial infantile, 34Apr 20, 2020
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome1Oct 12, 2020
Severe X-linked myotubular myopathy1Apr 20, 2020
Severe combined immunodeficiency due to CARMIL2 deficiency1Oct 12, 2020
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative1Apr 20, 2020
Severe congenital neutropenia 4, autosomal recessive1Apr 20, 2020
Severe hydrops fetalis2Nov 23, 2020
Severe myoclonic epilepsy in infancy22May 12, 2020
Severe neonatal-onset encephalopathy with microcephaly2Oct 12, 2020
Short stature1Jan 20, 2021
Short stature due to growth hormone secretagogue receptor deficiency1Oct 12, 2020
Short stature with nonspecific skeletal abnormalities3Oct 12, 2020
Short stature, brachydactyly, intellectual developmental disability, and seizures1Apr 20, 2020
Short stature, idiopathic, X-linked1Oct 12, 2020
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1Apr 20, 2020
Short-rib thoracic dysplasia 3 with or without polydactyly2Apr 20, 2020
Shwachman-Diamond syndrome 11Oct 12, 2020
Sick sinus syndrome 2, autosomal dominant1Apr 20, 2020
Sitosterolemia 11Oct 12, 2020
Skin/hair/eye pigmentation, variation in, 11Oct 12, 2020
Skraban-Deardorff syndrome1Oct 12, 2020
Smith-Kingsmore syndrome2Oct 12, 2020
Smith-Lemli-Opitz syndrome2Feb 25, 2020
Smith-Magenis syndrome4Oct 12, 2020
Snijders blok-campeau syndrome3Oct 12, 2020
Snijders blok-fisher syndrome1Apr 20, 2020
Sotos syndrome 15Oct 12, 2020
Sotos syndrome 22Oct 12, 2020
Spastic ataxia 5, autosomal recessive1Oct 12, 2020
Spastic paraparesis1Apr 20, 2020
Spastic paraplegia 11, autosomal recessive2Oct 12, 2020
Spastic paraplegia 31, autosomal dominant1Apr 20, 2020
Spastic paraplegia 4, autosomal dominant4Apr 20, 2020
Spastic paraplegia 43, autosomal recessive1Oct 12, 2020
Spastic paraplegia 47, autosomal recessive2Apr 20, 2020
Spastic paraplegia 49, autosomal recessive17Feb 2, 2021
Spastic paraplegia 50, autosomal recessive1Oct 8, 2020
Spastic paraplegia 52, autosomal recessive1Oct 8, 2020
Spastic paraplegia 54, autosomal recessive1Oct 12, 2020
Spastic paraplegia 55, autosomal recessive1Oct 8, 2020
Spastic paraplegia 73, autosomal dominant1Oct 12, 2020
Spastic paraplegia 78, autosomal recessive1Oct 12, 2020
Spastic paraplegia and psychomotor retardation with or without seizures1Oct 8, 2020
Spastic tetraplegia1Oct 12, 2020
Specific granule deficiency 11Oct 12, 2020
Spherocytosis type 21Oct 12, 2020
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1Feb 25, 2020
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant1Oct 12, 2020
Spinocerebellar Ataxia Type 152Oct 12, 2020
Spinocerebellar ataxia 351Apr 20, 2020
Spinocerebellar ataxia 401Oct 12, 2020
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits3Oct 12, 2020
Spinocerebellar ataxia 431Apr 20, 2020
Spinocerebellar ataxia 451Oct 12, 2020
Spinocerebellar ataxia 461Oct 12, 2020
Spinocerebellar ataxia 471Apr 20, 2020
Spinocerebellar ataxia type 11Oct 12, 2020
Spinocerebellar ataxia type 111Oct 12, 2020
Spinocerebellar ataxia type 132Apr 20, 2020
Spinocerebellar ataxia type 19/221Apr 20, 2020
Spinocerebellar ataxia type 271Feb 25, 2020
Spinocerebellar ataxia type 281Apr 20, 2020
Spinocerebellar ataxia type 53Oct 12, 2020
Spinocerebellar ataxia type 61Apr 20, 2020
Spinocerebellar ataxia, autosomal recessive 101Oct 12, 2020
Spinocerebellar ataxia, autosomal recessive 281Oct 8, 2020
Spinocerebellar ataxia, autosomal recessive 81Oct 12, 2020
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 24Oct 12, 2020
Spondylocostal dysostosis 3, autosomal recessive1Oct 12, 2020
Spondyloepimetaphyseal dysplasia, Missouri type1Apr 20, 2020
Spondyloepiphyseal dysplasia, kimberley type1Apr 20, 2020
Spondyloepiphyseal dysplasia, stanescu type1Oct 12, 2020
Spondyloperipheral dysplasia-short ulna syndrome1Apr 20, 2020
Stargardt disease 12Oct 12, 2020
Stocco dos Santos syndrome1Oct 12, 2020
Stomatin-deficient cryohydrocytosis with neurologic defects1Oct 12, 2020
Striatal degeneration, autosomal dominant 12Apr 20, 2020
Subcutaneous panniculitis-like T-cell lymphoma1Apr 20, 2020
Succinate-semialdehyde dehydrogenase deficiency1Oct 8, 2020
Supravalvar aortic stenosis1Apr 20, 2020
Surfactant metabolism dysfunction, pulmonary, 41Oct 12, 2020
Symmetrical dyschromatosis of extremities1Oct 12, 2020
Syndromic X-linked intellectual disability Turner type7Oct 12, 2020
Syndromic X-linked mental retardation, Cabezas type1Apr 20, 2020
TARP syndrome1Apr 20, 2020
Takenouchi-Kosaki syndrome1Oct 12, 2020
Tatton-Brown-rahman syndrome3Oct 12, 2020
Tay-Sachs disease1Oct 12, 2020
Tay-Sachs disease, variant AB1Apr 20, 2020
Telangiectasia, hereditary hemorrhagic, type 22Apr 20, 2020
Temple-Baraitser syndrome1Oct 12, 2020
Temtamy syndrome1Oct 8, 2020
Tetralogy of Fallot3May 18, 2021
Thrombocytosis1Apr 20, 2020
Thrombophilia due to protein S deficiency, autosomal dominant1Oct 12, 2020
Tooth agenesis, selective, 81Apr 20, 2020
Torsion dystonia 61Apr 20, 2020
Townes-Brocks syndrome 21Oct 12, 2020
Treacher Collins syndrome 11Apr 20, 2020
Tropical calcific pancreatitis1Oct 12, 2020
Troyer syndrome1Oct 8, 2020
Trypsinogen deficiency1Oct 12, 2020
Tuberous sclerosis 15Apr 20, 2020
Tuberous sclerosis 29Oct 12, 2020
Tumor susceptibility linked to germline BAP1 mutations4Oct 12, 2020
Turcot syndrome6Apr 20, 2020
Type 2 diabetes mellitus2Oct 12, 2020
Ullrich congenital muscular dystrophy 11Apr 20, 2020
Usher syndrome type 11Oct 12, 2020
Verheij syndrome3Oct 12, 2020
Ververi-Brady syndrome1Oct 12, 2020
Very long chain acyl-CoA dehydrogenase deficiency1Oct 12, 2020
Vitelliform macular dystrophy type 21Oct 12, 2020
Waardenburg syndrome type 11Apr 20, 2020
Waardenburg syndrome type 2A2Oct 12, 2020
Waardenburg syndrome type 4C2Oct 12, 2020
Warburg micro syndrome 41Apr 20, 2020
Warts, hypogammaglobulinemia, infections, and myelokathexis1Apr 20, 2020
Weaver syndrome3Oct 12, 2020
Werner syndrome1Oct 12, 2020
White-sutton syndrome3Oct 12, 2020
Wieacker-Wolff, X-linked recessive1Oct 12, 2020
Wiedemann-Steiner syndrome3Oct 12, 2020
Wilson disease2Oct 12, 2020
Wolfram syndrome 11Oct 12, 2020
Wolfram-like syndrome, autosomal dominant1Apr 20, 2020
Wrinkly skin syndrome1Oct 12, 2020
X-Linked Mental Retardation 412Apr 20, 2020
X-linked chondrodysplasia punctata 11Apr 20, 2020
X-linked hydrocephalus syndrome1Oct 12, 2020
X-linked intellectual disability-hypotonic face syndrome2Apr 20, 2020
X-linked mental retardation with marfanoid habitus syndrome3Oct 12, 2020
X-linked severe congenital neutropenia1Oct 12, 2020
X-linked sideroblastic anemia with ataxia1Apr 20, 2020
ZNF711-Related X-linked Mental Retardation1Apr 20, 2020
ZTTK syndrome2Apr 20, 2020
Zonular pulverulent cataract 31Apr 20, 2020
not provided8Jan 27, 2021
recessive ARS-related multisystem disease1Oct 8, 2020
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