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: 3846

Gene

GeneSubmissionsLast Updated
AAGAB1Oct 12, 2020
AARS11Oct 12, 2020
AARS21Oct 12, 2020
ABCA414Dec 28, 2021
ABCA51Oct 12, 2020
ABCB71Apr 20, 2020
ABCC61Oct 12, 2020
ABCC87Dec 28, 2021
ABCD116Sep 29, 2021
ABCD41Oct 12, 2020
ABCG51Jul 22, 2021
ABCG81Jul 22, 2021
ACADS1Oct 12, 2020
ACADSB2Feb 25, 2020
ACADVL1Oct 12, 2020
ACAN7Apr 20, 2020
ACBD61Apr 20, 2020
ACO21Oct 12, 2020
ACOX11Oct 12, 2020
ACP51Sep 23, 2021
ACSL41Oct 12, 2020
ACTA12Sep 23, 2021
ACTB4Oct 12, 2020
ACTG11Oct 4, 2021
ACTL6B2Oct 4, 2021
ACTN21Oct 12, 2020
ACTN41Apr 20, 2020
ACVRL12Apr 20, 2020
ADA22Sep 23, 2021
ADAR1Oct 12, 2020
ADARB11Oct 12, 2020
ADAT31Oct 12, 2020
ADCY52Apr 20, 2020
ADCY91Oct 12, 2020
ADD31Oct 8, 2020
ADGRG14Oct 8, 2020
ADNP8Sep 29, 2021
ADSL2Oct 12, 2020
AFF22Oct 12, 2020
AFG3L22Oct 12, 2020
AGA1Apr 20, 2020
AGL2Sep 23, 2021
AGO21Nov 23, 2021
AGPAT21Sep 23, 2021
AHI12Oct 8, 2020
AHNAK21Oct 12, 2020
AIFM13Sep 29, 2021
AIP1Oct 12, 2020
AKT31Oct 4, 2021
ALDH18A12Apr 20, 2020
ALDH5A11Oct 8, 2020
ALDH7A11Oct 12, 2020
ALG11Oct 12, 2020
ALG135Oct 12, 2020
ALG61Oct 12, 2020
ALG81Dec 28, 2021
ALMS16Oct 4, 2021
ALOX12B3Sep 23, 2021
ALOXE31Oct 12, 2020
ALPL11Sep 23, 2021
AMER12Oct 12, 2020
AMPD22Nov 23, 2021
ANKRD1113Oct 4, 2021
ANKRD173Nov 23, 2021
ANKS63Feb 5, 2021
ANO101Oct 12, 2020
ANOS12Apr 20, 2020
AP2M11Sep 23, 2021
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
APOB19Nov 23, 2021
APOE3Oct 12, 2020
AR1Sep 23, 2021
ARFGEF13Nov 23, 2021
ARFGEF21Oct 12, 2020
ARHGAP61Oct 12, 2020
ARHGEF61Apr 20, 2020
ARHGEF91Apr 20, 2020
ARID1A6Oct 12, 2020
ARID1B14Sep 23, 2021
ARID23Sep 23, 2021
ARL13A1Oct 12, 2020
ARPC1B1Apr 20, 2020
ARSA7Oct 4, 2021
ARSL1Apr 20, 2020
ARV12Oct 12, 2020
ARX10Oct 12, 2020
ASCC11Sep 23, 2021
ASH1L1Sep 23, 2021
ASIC11Oct 12, 2020
ASL1Apr 20, 2020
ASNS1Oct 12, 2020
ASXL14Sep 23, 2021
ASXL38Sep 23, 2021
ATL12Sep 23, 2021
ATM30Dec 28, 2021
ATN12Oct 12, 2020
ATP13A23Oct 12, 2020
ATP1A26Sep 23, 2021
ATP1A36Jul 22, 2021
ATP2B11Oct 12, 2020
ATP6AP21Sep 23, 2021
ATP6V0A11Nov 23, 2021
ATP6V0A21Oct 12, 2020
ATP6V1A1Sep 23, 2021
ATP7A2Apr 20, 2020
ATP7B2Oct 12, 2020
ATRIP2Sep 23, 2021
ATRIP-TREX12Sep 23, 2021
ATRX11Sep 23, 2021
ATXN11Oct 12, 2020
ATXN7L3-AS11Oct 12, 2020
AUTS26Nov 23, 2021
AVP2Sep 23, 2021
BAP14Oct 12, 2020
BARD17Oct 12, 2020
BBS71Oct 12, 2020
BBS92Oct 12, 2020
BCAP311Apr 20, 2020
BCKDHA2Nov 23, 2021
BCKDK1Sep 23, 2021
BCL11A3Sep 29, 2021
BCL11B1Apr 20, 2020
BCOR2Apr 20, 2020
BEST12Nov 23, 2021
BICD21Oct 12, 2020
BLM1Oct 12, 2020
BLNK1Apr 20, 2020
BMP21Dec 28, 2021
BMP41Sep 23, 2021
BRAF5Dec 28, 2021
BRAT11Jul 22, 2021
BRCA143Dec 28, 2021
BRCA276Dec 28, 2021
BRIP119Sep 23, 2021
BRPF11Oct 12, 2020
BRWD32Sep 29, 2021
BTD1Oct 12, 2020
C11orf6514Dec 28, 2021
C12orf41Oct 8, 2020
C12orf572Nov 23, 2021
C19orf121Oct 12, 2020
C1QTNF52Sep 29, 2021
C1S1Apr 20, 2020
C1orf1051Oct 12, 2020
C4orf471Oct 4, 2021
C51Oct 12, 2020
CABP41Apr 20, 2020
CACNA1A24Dec 28, 2021
CACNA1B2Jul 22, 2021
CACNA1C1Nov 23, 2021
CACNA1E4Oct 12, 2020
CACNA1F2Oct 12, 2020
CACNA1G3Oct 12, 2020
CACNA1H1Oct 12, 2020
CACNA1S8Sep 29, 2021
CACNA2D11Oct 12, 2020
CAMK2A1Sep 23, 2021
CAMK2B1Apr 20, 2020
CAMTA11Sep 29, 2021
CAPN32Sep 23, 2021
CARD112Oct 12, 2020
CARD141Sep 23, 2021
CARMIL21Oct 12, 2020
CASK4Apr 20, 2020
CASR2Apr 20, 2020
CATIP-AS21Apr 20, 2020
CBL1Sep 23, 2021
CBS1Oct 8, 2020
CC2D1A2Oct 12, 2020
CC2D2A2Sep 23, 2021
CCDC222Apr 20, 2020
CCDC391Oct 12, 2020
CCDC88C1Sep 23, 2021
CCM21Feb 25, 2020
CCND21Apr 20, 2020
CCNF1Oct 12, 2020
CD40LG1Apr 20, 2020
CD99L21Oct 12, 2020
CDC421Oct 12, 2020
CDH18Oct 12, 2020
CDH231Sep 23, 2021
CDHR12Dec 28, 2021
CDK132Nov 23, 2021
CDK191Oct 12, 2020
CDK81Oct 12, 2020
CDKL514Oct 12, 2020
CDKN1B1Oct 12, 2020
CDT11Oct 12, 2020
CEBPE1Oct 12, 2020
CEP2907Sep 29, 2021
CEP631Oct 12, 2020
CEP85L1Sep 23, 2021
CERKL2Sep 29, 2021
CERT11Apr 20, 2020
CFAP521Sep 23, 2021
CFHR52Oct 12, 2020
CFTR2Sep 23, 2021
CHCHD101Nov 23, 2021
CHD11Oct 12, 2020
CHD218Dec 28, 2021
CHD38Nov 23, 2021
CHD51Oct 12, 2020
CHD75Oct 12, 2020
CHD82Sep 29, 2021
CHEK222Nov 23, 2021
CHKA5Nov 23, 2021
CHL11Oct 12, 2020
CHRNA21Oct 12, 2020
CHRNA41Sep 23, 2021
CHRNB22Sep 29, 2021
CHST142Oct 12, 2020
CIC3Oct 12, 2020
CIZ11Sep 23, 2021
CKAP2L1Oct 8, 2020
CLCN16Oct 12, 2020
CLCN43Sep 29, 2021
CLCN53Sep 23, 2021
CLDN161Oct 12, 2020
CLN32Feb 25, 2021
CLP11Oct 8, 2020
CLTC2Sep 23, 2021
CNGB11Oct 12, 2020
CNGB31Apr 20, 2020
CNKSR23Nov 23, 2021
CNOT11Sep 23, 2021
CNOT32Sep 23, 2021
COL10A12Apr 20, 2020
COL11A15Sep 23, 2021
COL11A24Oct 12, 2020
COL12A12Oct 12, 2020
COL13A11Apr 20, 2020
COL18A14Sep 29, 2021
COL1A19Sep 29, 2021
COL1A23Jul 22, 2021
COL2A13Oct 12, 2020
COL3A13Sep 23, 2021
COL4A14Sep 29, 2021
COL4A24Sep 23, 2021
COL4A2-AS11Sep 23, 2021
COL4A34Sep 29, 2021
COL4A44Sep 23, 2021
COL4A57Sep 29, 2021
COL4A61Oct 12, 2020
COL5A12Oct 12, 2020
COL5A23Oct 12, 2020
COL6A23Sep 23, 2021
COL6A31Apr 20, 2020
COL7A12Apr 20, 2020
COL9A21Oct 12, 2020
COLQ2Apr 20, 2020
COMP1Sep 23, 2021
COQ61Oct 12, 2020
COQ8A1Apr 20, 2020
CP1Oct 12, 2020
CPA63Nov 23, 2021
CPLANE13Oct 12, 2020
CPLX12Nov 23, 2021
CPS11Apr 20, 2020
CPT1C1Oct 12, 2020
CPT22Apr 20, 2020
CRB11Oct 12, 2020
CRBN1Oct 8, 2020
CREB3L31Nov 23, 2021
CREBBP5Oct 12, 2020
CRTAP1Oct 12, 2020
CRYBB21Sep 29, 2021
CRYGD1Oct 12, 2020
CSF1R8Oct 4, 2021
CSF2RA1Oct 12, 2020
CSNK2A14Nov 23, 2021
CSNK2B3Sep 23, 2021
CSPP11Oct 12, 2020
CST31Apr 20, 2020
CTCF33Nov 23, 2021
CTNNB15Dec 28, 2021
CTNND21Oct 4, 2021
CUL31Apr 20, 2020
CUL4B2Mar 1, 2021
CUX18Oct 12, 2020
CUX21Oct 12, 2020
CXCR41Apr 20, 2020
CYFIP21Apr 20, 2020
CYP11A11Oct 12, 2020
CYP1B12Oct 12, 2020
CYP21A23Sep 29, 2021
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
DCX2Sep 23, 2021
DDHD21Oct 12, 2020
DDX3X9Nov 23, 2021
DEAF15Sep 29, 2021
DEGS11Oct 8, 2020
DEPDC59Oct 4, 2021
DHCR72Feb 25, 2020
DHDDS3Sep 23, 2021
DHX301Sep 23, 2021
DIAPH21Oct 12, 2020
DICER14Oct 12, 2020
DIP2C1Apr 20, 2020
DIS3L21Oct 12, 2020
DLG446Dec 28, 2021
DMD9Sep 23, 2021
DNAH111Sep 23, 2021
DNAH82Sep 23, 2021
DNAH8-AS12Sep 23, 2021
DNAH91Oct 12, 2020
DNAI11Sep 23, 2021
DNAJC71Apr 20, 2020
DNM14Sep 23, 2021
DNM1L1Sep 23, 2021
DNMT11Apr 20, 2020
DNMT3A4Sep 23, 2021
DOCK21Oct 12, 2020
DOCK31Oct 12, 2020
DOCK61Oct 12, 2020
DOCK71Oct 12, 2020
DOK71Apr 20, 2020
DPH11Oct 12, 2020
DPP61Jul 22, 2021
DPYD1Jul 22, 2021
DPYD-AS11Jul 22, 2021
DRAM22Oct 4, 2021
DRG11Oct 12, 2020
DSC21Nov 23, 2021
DSG24Nov 23, 2021
DSP9Sep 29, 2021
DSP-AS12Oct 12, 2020
DSPP1Oct 12, 2020
DUSP291Sep 23, 2021
DYM1Oct 12, 2020
DYNC1H120Oct 4, 2021
DYNC2H14Dec 28, 2021
DYRK1A5Oct 12, 2020
DYRK1B1Sep 23, 2021
DYSF1Apr 20, 2020
EBF33Sep 29, 2021
EDAR2Apr 20, 2020
EEF1A24Sep 23, 2021
EFTUD23Sep 23, 2021
EGR31Apr 20, 2020
EHMT18Sep 29, 2021
EIF2B11Oct 12, 2020
EIF2B52Oct 12, 2020
EIF3F2Jul 22, 2021
EIF5B1Apr 20, 2020
ELN2Oct 12, 2020
ELP41Oct 12, 2020
ENG1Apr 20, 2020
ENPP11Oct 12, 2020
EP3008Nov 23, 2021
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
EZH24Sep 23, 2021
FANCA1Apr 20, 2020
FANCB1Oct 12, 2020
FANCC1Oct 12, 2020
FANCM1Oct 12, 2020
FAR11Oct 8, 2020
FAT21Oct 12, 2020
FBLN51Oct 12, 2020
FBN112Sep 29, 2021
FBXL191Apr 20, 2020
FBXL41Apr 20, 2020
FBXO1142Dec 28, 2021
FBXO381Sep 23, 2021
FGD12Oct 12, 2020
FGF141Feb 25, 2020
FGF81Oct 12, 2020
FGFR12Oct 12, 2020
FGFR22Sep 23, 2021
FGFR36Nov 23, 2021
FH2Apr 20, 2020
FHL11Oct 12, 2020
FKBP101Oct 12, 2020
FKBP141Apr 20, 2020
FKBP14-AS11Apr 20, 2020
FKRP1Apr 20, 2020
FLCN2Nov 23, 2021
FLG2Oct 12, 2020
FLG-AS11Oct 12, 2020
FLG21Oct 12, 2020
FLNA5Oct 12, 2020
FLNB1Apr 20, 2020
FLNC3Sep 23, 2021
FLT41Sep 23, 2021
FN11Apr 20, 2020
FOXG156Nov 23, 2021
FOXP19Sep 23, 2021
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
GAA3Sep 29, 2021
GABRA12Apr 20, 2020
GABRA21Apr 20, 2020
GABRB13Dec 28, 2021
GABRB22Oct 12, 2020
GABRB33Oct 12, 2020
GABRD1Oct 12, 2020
GABRG24Nov 23, 2021
GALC5Feb 25, 2021
GALNT21Mar 7, 2021
GALT1Apr 20, 2020
GAMT2Oct 12, 2020
GARS12Oct 12, 2020
GATA22Oct 12, 2020
GATAD11Oct 12, 2020
GATAD2B3Oct 12, 2020
GBA2Sep 23, 2021
GBP51Oct 12, 2020
GCDH2Oct 8, 2020
GCH13Sep 23, 2021
GCK4Sep 29, 2021
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
GJB15Dec 28, 2021
GJB23Sep 29, 2021
GJB61Apr 20, 2020
GLA2Oct 12, 2020
GLB11Oct 12, 2020
GLDC3Oct 12, 2020
GLI26Sep 23, 2021
GLRA11Oct 12, 2020
GLS3Nov 23, 2021
GLUD11Oct 12, 2020
GM2A1Apr 20, 2020
GNAI11Feb 25, 2020
GNAO12Nov 23, 2021
GNAS4Oct 12, 2020
GNB17Sep 29, 2021
GNB51Oct 12, 2020
GNE1Oct 12, 2020
GNPTAB1Oct 12, 2020
GNRHR1Apr 20, 2020
GNS1Apr 20, 2020
GPAA12Nov 23, 2021
GPD11Dec 28, 2021
GPD1L1Sep 23, 2021
GPIHBP12Oct 12, 2020
GRIA31Oct 12, 2020
GRIA48Sep 23, 2021
GRIN14Dec 28, 2021
GRIN2A95Nov 23, 2021
GRIN2B79Sep 29, 2021
GRIN2D9Nov 23, 2021
GRIN3B2Oct 12, 2020
GRK51Oct 12, 2020
GRN1Oct 12, 2020
GUCY1A11Oct 12, 2020
GUCY2D1Sep 29, 2021
H1-42Nov 23, 2021
H3-3A1Oct 12, 2020
HACE11Oct 8, 2020
HAVCR21Apr 20, 2020
HBA-LCR8Sep 23, 2021
HBB5Sep 29, 2021
HCFC12Oct 12, 2020
HCN14Jul 22, 2021
HCN21Oct 12, 2020
HCN41Apr 20, 2020
HDAC42Sep 23, 2021
HECW22Oct 12, 2020
HERC22Oct 12, 2020
HEXA1Oct 12, 2020
HEXB1Oct 12, 2020
HFE3Dec 28, 2021
HFE-AS11Dec 28, 2021
HGSNAT1Oct 8, 2020
HIBCH2Oct 12, 2020
HIVEP23Nov 23, 2021
HIVEP31Oct 12, 2020
HK11Sep 29, 2021
HMBS1Apr 20, 2020
HNF1A2Oct 12, 2020
HNF1B1Apr 20, 2020
HNRNPH21Oct 8, 2020
HNRNPU2Nov 23, 2021
HOXD132Sep 29, 2021
HPS11Oct 12, 2020
HRAS1Apr 20, 2020
HSD17B101Apr 20, 2020
HSPB14Dec 28, 2021
HSPB81Apr 20, 2020
HSPD11Apr 20, 2020
HSPG21Oct 12, 2020
HTRA13Nov 23, 2021
HTT2Oct 12, 2020
HUWE17Jul 22, 2021
IDH3G1Oct 12, 2020
IDUA1Oct 12, 2020
IFIH13Oct 12, 2020
IFNGR11Oct 12, 2020
IFT1404Dec 28, 2021
IGF1R5Oct 12, 2020
IGF23Nov 23, 2021
IGFALS2Oct 12, 2020
IKBKG1Nov 23, 2021
IKZF11Sep 23, 2021
IL1RAPL12Oct 12, 2020
IL21R2Oct 12, 2020
IL2RG1Apr 20, 2020
IMPG11Dec 28, 2021
INF22Oct 12, 2020
INS-IGF23Nov 23, 2021
INSR1Apr 20, 2020
IQSEC26Dec 28, 2021
IRAIN1Apr 20, 2020
IRAK1BP14Dec 28, 2021
IRAK42Sep 23, 2021
IRF2BPL2Sep 23, 2021
IRF81Sep 23, 2021
ITGA71Apr 20, 2020
ITGB41Oct 12, 2020
ITIH61Oct 12, 2020
ITM2B1Apr 20, 2020
ITPR13Sep 23, 2021
IVD2Oct 12, 2020
JAG11Apr 20, 2020
JAK31Apr 20, 2020
JMJD7-PLA2G4B1Oct 12, 2020
JPH31Apr 20, 2020
KALRN1Oct 12, 2020
KANSL12Sep 29, 2021
KAT6A4Sep 23, 2021
KAT6B3Sep 23, 2021
KAT81Dec 28, 2021
KCNA23Nov 23, 2021
KCNB19Oct 12, 2020
KCNC11Oct 12, 2020
KCNC32Apr 20, 2020
KCND31Apr 20, 2020
KCNH12Sep 23, 2021
KCNH25Oct 12, 2020
KCNJ101Apr 20, 2020
KCNK92Oct 12, 2020
KCNMA14Oct 12, 2020
KCNMA1-AS11Apr 20, 2020
KCNN21Oct 12, 2020
KCNQ110Sep 23, 2021
KCNQ1-AS11Apr 20, 2020
KCNQ217Dec 28, 2021
KCNQ33Sep 23, 2021
KCNQ51Apr 20, 2020
KCNT16Sep 23, 2021
KCNT22Dec 28, 2021
KCNV21Oct 12, 2020
KDM4B1Dec 28, 2021
KDM5A1Sep 8, 2020
KDM5B1Apr 20, 2020
KDM5C2Oct 12, 2020
KDM6A1Oct 12, 2020
KDM6B3Nov 23, 2021
KIAA05861Oct 8, 2020
KIF112Oct 4, 2021
KIF1A4Oct 12, 2020
KIF5A1Oct 12, 2020
KIF71Oct 12, 2020
KIRREL22Oct 12, 2020
KIRREL31Apr 20, 2020
KLHL151Apr 20, 2020
KLHL72Sep 23, 2021
KMT2A4Sep 23, 2021
KMT2B3Sep 29, 2021
KMT2C7Sep 29, 2021
KMT2D13Sep 23, 2021
KMT2E2Oct 12, 2020
KMT5B1Apr 20, 2020
KRAS2Apr 20, 2020
KRIT12Sep 29, 2021
KRT51Oct 12, 2020
KRT91Apr 20, 2020
L1CAM2Oct 12, 2020
L2HGDH2Sep 23, 2021
LAMA21Oct 8, 2020
LAMA41Oct 12, 2020
LAMC31Apr 20, 2020
LAMP21Sep 23, 2021
LARP73Nov 23, 2021
LARS11Sep 29, 2021
LARS21Oct 12, 2020
LDLR49Dec 28, 2021
LDLR-AS12Sep 23, 2021
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
LMNA10Nov 23, 2021
LMNB21Apr 20, 2020
LMX1B2Oct 12, 2020
LOC1002895801Oct 12, 2020
LOC1005074431Oct 12, 2020
LOC1019270551Oct 12, 2020
LOC1019270781Oct 12, 2020
LOC1019280081Oct 12, 2020
LOC10272405826Dec 28, 2021
LOC1053710461Nov 23, 2021
LOC1060990625Sep 29, 2021
LOC1065602111Apr 20, 2020
LOC1066279811Sep 23, 2021
LOC1067217851Sep 23, 2021
LOC1067808002Sep 29, 2021
LOC1071335105Sep 29, 2021
LOC1076524451Oct 12, 2020
LOC1086639851Oct 12, 2020
LOC1086639931Oct 12, 2020
LOC1094614791Oct 12, 2020
LOC1094614841Oct 12, 2020
LOC1096106311Apr 20, 2020
LOC1096115891Apr 20, 2020
LOC1100063191Sep 29, 2021
LOC1100085801Nov 23, 2021
LOC1148034754Dec 28, 2021
LOC1220567851Oct 12, 2020
LOX1Nov 23, 2021
LPL2Oct 12, 2020
LRP21Oct 12, 2020
LRP41Oct 12, 2020
LRP51Sep 23, 2021
LRP61Apr 20, 2020
LRRC561Apr 20, 2020
LRRK21Apr 20, 2020
LRSAM11Apr 20, 2020
LTN11Oct 12, 2020
LZTR15Dec 28, 2021
MACF12Oct 12, 2020
MADD1Nov 23, 2021
MAGEL21Oct 12, 2020
MAGT11Apr 20, 2020
MAMLD11Oct 12, 2020
MAN1B11Oct 8, 2020
MAN2B11Apr 20, 2020
MAP1B1Oct 12, 2020
MAP2K12Sep 29, 2021
MAP3K11Oct 12, 2020
MAP3K151Oct 12, 2020
MAP3K71Jul 22, 2021
MAPK8IP311May 12, 2020
MAPKAPK21Oct 12, 2020
MASP11Sep 23, 2021
MATR31Apr 20, 2020
MBD51Oct 12, 2020
MBOAT72Sep 23, 2021
MC4R5Jul 22, 2021
MCCC22Oct 12, 2020
MCM3AP2Dec 28, 2021
MCPH11Oct 12, 2020
MDH21Oct 12, 2020
MEA11Apr 20, 2020
MECP220Dec 28, 2021
MED123Oct 12, 2020
MED12L2Nov 23, 2021
MED13L13Sep 23, 2021
MED171Sep 23, 2021
MED251Oct 12, 2020
MEF2C5Oct 12, 2020
MEF2C-AS21Apr 20, 2020
MEFV4Nov 23, 2021
MEIS21Sep 23, 2021
MEN13Oct 12, 2020
MET2Jul 22, 2021
METTL51Jan 27, 2021
MFF-DT4Sep 29, 2021
MFN23Nov 23, 2021
MFRP2Sep 29, 2021
MFSD81Sep 23, 2021
MGME11Oct 8, 2020
MHRT2Apr 20, 2020
MILR11Oct 12, 2020
MINPP14Nov 23, 2021
MIP1Apr 20, 2020
MIR302CHG3Nov 23, 2021
MIR50041Oct 12, 2020
MITF3Oct 12, 2020
MLH112Jul 22, 2021
MLH31Jul 22, 2021
MMACHC3Dec 28, 2021
MME3Sep 23, 2021
MMP131Apr 20, 2020
MORC21Sep 23, 2021
MPO1Oct 12, 2020
MPV171Oct 12, 2020
MPZ4Sep 23, 2021
MSH223Oct 4, 2021
MSH619Dec 28, 2021
MSL31Sep 23, 2021
MSN1Oct 12, 2020
MSX11Oct 12, 2020
MT-ATP61Sep 29, 2021
MT-ND51Sep 29, 2021
MT-ND61Sep 29, 2021
MT-TV1Nov 23, 2021
MTHFR2Oct 8, 2020
MTM11Apr 20, 2020
MTOR3Nov 23, 2021
MTRFR2Sep 23, 2021
MUTYH6Sep 23, 2021
MYBPC11Sep 29, 2021
MYBPC317Dec 28, 2021
MYCN1Sep 23, 2021
MYCNOS1Sep 23, 2021
MYH117Sep 29, 2021
MYH22Sep 23, 2021
MYH31Oct 12, 2020
MYH61Oct 12, 2020
MYH716Nov 23, 2021
MYH81Oct 12, 2020
MYHAS3Sep 23, 2021
MYL22Sep 29, 2021
MYLK1Apr 20, 2020
MYO15A1Oct 12, 2020
MYO1E1Oct 12, 2020
MYO5B1Oct 12, 2020
MYO7A5Oct 12, 2020
MYT1L4Oct 12, 2020
NAA102Oct 12, 2020
NAA152Oct 4, 2021
NALCN3Sep 23, 2021
NAPB1Oct 8, 2020
NARS12Oct 12, 2020
NARS22Sep 29, 2021
NBEA2Sep 29, 2021
NBN1Oct 12, 2020
NCAPH21Apr 20, 2020
NCKAP11Sep 29, 2021
NDE13Sep 23, 2021
NDRG11Oct 12, 2020
NDST12Oct 8, 2020
NEB3Oct 12, 2020
NECAP11Apr 20, 2020
NEFH1Apr 20, 2020
NEFL1Apr 20, 2020
NEK91Oct 12, 2020
NEXMIF3Sep 29, 2021
NEXN2Oct 12, 2020
NF122Dec 28, 2021
NFIA2Nov 23, 2021
NFIB3Oct 12, 2020
NFIX4Nov 23, 2021
NFKB14Sep 23, 2021
NFKB21Sep 23, 2021
NFU12Sep 29, 2021
NGLY11Oct 12, 2020
NHLRC11Oct 12, 2020
NIPA11Oct 12, 2020
NIPAL31Oct 12, 2020
NIPBL8Sep 23, 2021
NKX2-11Oct 12, 2020
NLGN4X1Apr 20, 2020
NOD21Apr 20, 2020
NONO1Feb 25, 2020
NOTCH11Apr 20, 2020
NOTCH21Apr 20, 2020
NOTCH315Sep 29, 2021
NPHP11Oct 12, 2020
NPHP3-ACAD112Oct 12, 2020
NPHS11Oct 12, 2020
NPHS22Oct 12, 2020
NPR26Oct 12, 2020
NPRL23Nov 23, 2021
NPRL39Nov 23, 2021
NR2F12Apr 20, 2020
NR4A21Dec 28, 2021
NRDE21Oct 12, 2020
NRXN12Oct 4, 2021
NSD15Oct 12, 2020
NSD22Sep 23, 2021
NSMF1Apr 20, 2020
NT5DC12Apr 20, 2020
NT5DC41Oct 8, 2020
NTRK11Oct 12, 2020
NTRK21Oct 12, 2020
NUS13Dec 28, 2021
OCA21Oct 12, 2020
OCRL3Sep 23, 2021
OFD11Oct 12, 2020
OGT1Sep 23, 2021
OPA13Oct 4, 2021
OPHN12Sep 23, 2021
OTC2Sep 29, 2021
OXT1Oct 12, 2020
P2RY121Oct 12, 2020
P3H12Oct 12, 2020
PACS11Nov 23, 2021
PACS21Sep 23, 2021
PAFAH1B17Sep 29, 2021
PAH6Oct 12, 2020
PAK15Nov 23, 2021
PAK31Oct 12, 2020
PALB216Dec 28, 2021
PARS22Oct 12, 2020
PASK1Oct 12, 2020
PAX22Apr 20, 2020
PAX32Sep 8, 2020
PAX61Oct 12, 2020
PCCA1Oct 12, 2020
PCDH1912Dec 28, 2021
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
PCNT3Dec 28, 2021
PCSK94Sep 23, 2021
PDCD101Oct 12, 2020
PDE11A1Oct 12, 2020
PDE4D1Oct 12, 2020
PDE8B1Apr 20, 2020
PDGFB1Apr 20, 2020
PDGFRA1Oct 12, 2020
PDHA15Nov 23, 2021
PEX11Oct 12, 2020
PEX51Apr 20, 2020
PEX61Oct 12, 2020
PGAP13Oct 12, 2020
PGAP21Oct 8, 2020
PGM11Apr 20, 2020
PHACTR11Oct 12, 2020
PHF21A1Sep 23, 2021
PHF31Oct 12, 2020
PHF62Oct 12, 2020
PHGDH1Oct 12, 2020
PHIP7Dec 28, 2021
PHKA11Oct 12, 2020
PHKA22Oct 12, 2020
PHKB1Oct 12, 2020
PIEZO11Oct 12, 2020
PIEZO21Apr 20, 2020
PIGA2Oct 8, 2020
PIGC1Oct 12, 2020
PIGG1Oct 4, 2021
PIGN2Oct 12, 2020
PIGT3Sep 29, 2021
PIGV2Nov 23, 2021
PIK3CA5Oct 12, 2020
PIK3CD1Sep 23, 2021
PIK3R12Sep 23, 2021
PIK3R22Oct 12, 2020
PITX11Nov 23, 2021
PKD110Apr 19, 2021
PKD1-AS11Apr 20, 2020
PKD1L12Oct 12, 2020
PKD1L1-AS11Oct 12, 2020
PKHD14Apr 19, 2021
PKLR1Oct 12, 2020
PKP25Sep 29, 2021
PLA2G4B1Oct 12, 2020
PLA2G62Oct 8, 2020
PLAG11Nov 23, 2021
PLCB41Oct 4, 2021
PLCG21Sep 23, 2021
PLD31Oct 12, 2020
PLEC2Oct 12, 2020
PLEKHG21Oct 12, 2020
PLEKHG4B1Oct 12, 2020
PLIN11Apr 20, 2020
PLXNA31Oct 12, 2020
PLXNB31Oct 12, 2020
PMM22Nov 23, 2021
PMP221Apr 20, 2020
PMS219Dec 28, 2021
PNKD1Apr 20, 2020
PNKP5Dec 11, 2020
PNPO3Sep 29, 2021
POGZ3Oct 12, 2020
POLE1Oct 12, 2020
POLG8Sep 29, 2021
POLG21Oct 12, 2020
POLK1Sep 23, 2021
POLR1A2Oct 12, 2020
POLR1C2Oct 12, 2020
POLR2A4Sep 29, 2021
POLR2F4Sep 23, 2021
POLR3B2Oct 12, 2020
POMGNT13Feb 25, 2021
POMT12Oct 12, 2020
POT11Oct 12, 2020
POU1F11Apr 20, 2020
POU3F31Apr 20, 2020
POU3F41Nov 23, 2021
PPARG4Dec 28, 2021
PPM1D2Sep 29, 2021
PPP2R1A4Sep 23, 2021
PPP2R5D1Apr 20, 2020
PQBP11Sep 23, 2021
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
PROM12Sep 29, 2021
PROP12Sep 23, 2021
PROS11Oct 12, 2020
PRPF61Apr 20, 2020
PRPH25Dec 28, 2021
PRRT28Sep 29, 2021
PRSS11Jul 22, 2021
PRSS231Oct 12, 2020
PRUNE11Feb 25, 2020
PSEN11Apr 20, 2020
PTCH18Sep 23, 2021
PTCHD11Apr 20, 2020
PTDSS12Oct 12, 2020
PTEN5Oct 12, 2020
PTH1R1Oct 12, 2020
PTPN117Sep 23, 2021
PTPN231Oct 12, 2020
PTPRQ2Sep 23, 2021
PTPRZ11Apr 20, 2020
PUF603Sep 23, 2021
PUM12Sep 23, 2021
PUS71Nov 23, 2021
PYGL1Oct 12, 2020
QARS12Nov 23, 2021
QRICH136Dec 28, 2021
RAB33A3Sep 29, 2021
RAB3GAP21Sep 23, 2021
RAD211Sep 23, 2021
RAD51C10Sep 23, 2021
RAD51D7Sep 23, 2021
RAD51L3-RFFL6Sep 23, 2021
RAF11Apr 20, 2020
RAG14Sep 23, 2021
RAI14Oct 12, 2020
RANBP22Apr 20, 2020
RAPGEF21Oct 12, 2020
RASGRP11Oct 12, 2020
RB11Oct 12, 2020
RBM101Apr 20, 2020
RECQL1Oct 12, 2020
REEP11Apr 20, 2020
RELN4Sep 23, 2021
RERE2Sep 23, 2021
RET5Oct 12, 2020
RFX71Oct 12, 2020
RFXANK2Apr 20, 2020
RHEB1Oct 4, 2021
RHO4Oct 12, 2020
RHOBTB22Sep 29, 2021
RIF11Oct 12, 2020
RIPK41Sep 23, 2021
RIT11Apr 20, 2020
RNASEH2B1Apr 20, 2020
ROBO133Nov 17, 2021
ROBO218Oct 4, 2021
ROBO319Feb 5, 2021
ROBO41Feb 5, 2021
RORA2Oct 12, 2020
RORA-AS12Oct 12, 2020
RP11Oct 12, 2020
RP1L11Oct 4, 2021
RPGR1Apr 20, 2020
RPIA1Apr 20, 2020
RPL36A-HNRNPH23Oct 12, 2020
RPS6KA31Apr 20, 2020
RS11Oct 4, 2021
RSRC11Sep 23, 2021
RUNX22Oct 12, 2020
RYR120Dec 28, 2021
RYR27Sep 23, 2021
SACS2Oct 12, 2020
SALL42Sep 23, 2021
SAMD9L1Oct 12, 2020
SATB11Nov 23, 2021
SATB23Nov 23, 2021
SBDS2Dec 28, 2021
SBF22Oct 12, 2020
SCAMP41Oct 12, 2020
SCN10A2Oct 4, 2021
SCN1A51Dec 28, 2021
SCN1A-AS12Jul 22, 2021
SCN1B2Oct 12, 2020
SCN2A21Nov 23, 2021
SCN3A16Dec 28, 2021
SCN4A3Apr 20, 2020
SCN5A11Oct 12, 2020
SCN8A30Nov 23, 2021
SCN9A3Sep 23, 2021
SCO21Apr 20, 2020
SDHA2Dec 28, 2021
SDHAF22Oct 12, 2020
SDHB1Apr 20, 2020
SDHD2Dec 28, 2021
SDR9C72Sep 23, 2021
SELENON1Oct 12, 2020
SEMA3A1Oct 12, 2020
SEMA3B1Oct 12, 2020
SERPING12Apr 20, 2020
SERPINI11Apr 20, 2020
SET2Apr 20, 2020
SETBP12Oct 12, 2020
SETD1A2Sep 23, 2021
SETD22Apr 20, 2020
SETD51Nov 23, 2021
SETX5Sep 23, 2021
SFTA31Oct 12, 2020
SFXN31Oct 12, 2020
SGCB1Sep 23, 2021
SGSH3Feb 25, 2021
SH3PXD2B1Sep 29, 2021
SH3TC22Oct 12, 2020
SHANK34Sep 23, 2021
SHH3Oct 12, 2020
SHOC21Apr 20, 2020
SHOX1Oct 12, 2020
SHROOM41Oct 12, 2020
SIL11Oct 12, 2020
SIM11Sep 23, 2021
SIX11Oct 12, 2020
SIX31Dec 28, 2021
SLC12A11Apr 20, 2020
SLC12A31Apr 20, 2020
SLC13A51Apr 20, 2020
SLC16A11Oct 12, 2020
SLC16A21Oct 12, 2020
SLC19A13Sep 29, 2021
SLC1A31Oct 12, 2020
SLC25A12Sep 23, 2021
SLC25A121Oct 12, 2020
SLC25A131Oct 12, 2020
SLC26A111Oct 12, 2020
SLC26A24Sep 23, 2021
SLC26A5-AS12Sep 23, 2021
SLC2A111Nov 23, 2021
SLC2A21Apr 20, 2020
SLC30A52Dec 28, 2021
SLC32A14Dec 28, 2021
SLC36A11Oct 12, 2020
SLC39A41Apr 20, 2020
SLC39A51Sep 23, 2021
SLC39A81Oct 8, 2020
SLC3A11Oct 12, 2020
SLC44A11Mar 7, 2021
SLC4A11Oct 12, 2020
SLC4A41Apr 20, 2020
SLC5A21Apr 20, 2020
SLC5A71Apr 20, 2020
SLC6A18Dec 28, 2021
SLC6A1-AS11Sep 29, 2021
SLC6A191Oct 12, 2020
SLC6A87Dec 28, 2021
SLC7A92Oct 12, 2020
SMAD32Oct 12, 2020
SMAD43Apr 20, 2020
SMAD63Dec 28, 2021
SMARCA210Sep 23, 2021
SMARCA43Nov 23, 2021
SMARCAD11Apr 20, 2020
SMARCC23Sep 23, 2021
SMC1A3Nov 23, 2021
SMC33Sep 23, 2021
SMCHD11Sep 23, 2021
SMCR81Oct 12, 2020
SMPD13Feb 25, 2021
SMPX1Apr 20, 2020
SNAP2525Sep 23, 2021
SNHG141Sep 23, 2021
SON4Sep 23, 2021
SOS12Sep 23, 2021
SOS21Apr 20, 2020
SOX104Sep 23, 2021
SOX112Sep 29, 2021
SOX21Sep 23, 2021
SOX2-OT1Sep 23, 2021
SOX42Sep 23, 2021
SOX55Sep 23, 2021
SPART1Oct 8, 2020
SPAST4Apr 20, 2020
SPATA55Oct 12, 2020
SPECC1L1Oct 12, 2020
SPECC1L-ADORA2A1Oct 12, 2020
SPEN1Dec 28, 2021
SPG114Nov 23, 2021
SPG76Oct 4, 2021
SPINK11Oct 12, 2020
SPR1Sep 29, 2021
SPTA12Sep 23, 2021
SPTAN128Nov 23, 2021
SPTB1Oct 12, 2020
SPTBN24Sep 23, 2021
SQSTM15Oct 12, 2020
SRCAP2Oct 12, 2020
SRFBP11Nov 23, 2021
STAG11Oct 12, 2020
STAG21Sep 23, 2021
STAT33Sep 23, 2021
STAT5B1Apr 20, 2020
STIL1Oct 12, 2020
STK113Oct 12, 2020
STX1B1Sep 23, 2021
STXBP121Sep 29, 2021
SUFU1Apr 20, 2020
SVBP1Nov 23, 2021
SYN11Apr 20, 2020
SYNE15Oct 12, 2020
SYNE1-AS11Oct 12, 2020
SYNE22Oct 12, 2020
SYNGAP110Dec 28, 2021
SYP1Oct 12, 2020
SYT11Sep 29, 2021
SYT21Apr 20, 2020
SZT21Oct 12, 2020
TAF11Jan 20, 2021
TAF132Nov 23, 2021
TANC24Dec 28, 2021
TAOK12Oct 4, 2021
TBC1D201Apr 20, 2020
TBC1D241Oct 12, 2020
TBCD1Feb 25, 2020
TBCEL-TECTA1Oct 12, 2020
TBCK1Oct 8, 2020
TBK11Apr 20, 2020
TBL1XR15Sep 23, 2021
TBR11Oct 4, 2021
TBX41Apr 20, 2020
TCAP1Apr 20, 2020
TCF121Oct 12, 2020
TCF204Sep 23, 2021
TCF31Oct 12, 2020
TCF43Nov 23, 2021
TCIRG11Apr 20, 2020
TCOF11Apr 20, 2020
TECPR217Feb 2, 2021
TECTA1Oct 12, 2020
TERT3Oct 12, 2020
TET32Sep 23, 2021
TFAP2A1Oct 12, 2020
TFAP2A-AS21Oct 12, 2020
TFE31Sep 8, 2020
TGFB31Oct 12, 2020
TGFBR22Sep 29, 2021
TGM61Apr 20, 2020
THAP11Apr 20, 2020
THG1L1Oct 8, 2020
THOC61Feb 25, 2020
THSD11Sep 29, 2021
TIMM8A1Sep 23, 2021
TLK23Oct 4, 2021
TMCO12Feb 25, 2020
TMEM676Nov 23, 2021
TMEM941Mar 7, 2021
TMLHE1Oct 12, 2020
TMPRSS151Oct 12, 2020
TMPRSS32Sep 29, 2021
TMTC31Mar 7, 2021
TNC1Apr 20, 2020
TNFRSF11A1Sep 23, 2021
TNFRSF13B3Sep 29, 2021
TNNI21Sep 23, 2021
TNNT24Oct 12, 2020
TNNT31Oct 12, 2020
TNRC6B1Nov 23, 2021
TNXB1Sep 23, 2021
TOPORS1Oct 12, 2020
TP537Sep 29, 2021
TPM11Oct 12, 2020
TPM31Apr 20, 2020
TPP11Oct 12, 2020
TRAF71Apr 20, 2020
TRAPPC91Oct 8, 2020
TRB1Jul 22, 2021
TREX12Sep 23, 2021
TRIM81Oct 4, 2021
TRIO12Dec 28, 2021
TRIP125Sep 23, 2021
TRIT11Oct 12, 2020
TRMT12Sep 23, 2021
TRMT10A1Oct 8, 2020
TRMT2B1Oct 12, 2020
TRPC62Oct 12, 2020
TRPM12Oct 12, 2020
TRPM43Oct 12, 2020
TRPS11Jul 22, 2021
TRPV42Nov 23, 2021
TRRAP6Dec 28, 2021
TSC18Sep 29, 2021
TSC213Nov 23, 2021
TSEN151Oct 8, 2020
TSEN543Oct 4, 2021
TSHB1Apr 20, 2020
TSPAN13Feb 25, 2021
TSPAN121Apr 20, 2020
TTBK21Oct 12, 2020
TTC141Oct 12, 2020
TTI21Oct 12, 2020
TTN18Dec 28, 2021
TTN-AS111Sep 29, 2021
TUBA1A7Sep 23, 2021
TUBB2A1Apr 20, 2020
TUBB2B3Oct 12, 2020
TUBB4A1Sep 23, 2021
TUBB61Oct 12, 2020
TUBGCP41Oct 12, 2020
TWNK1Apr 20, 2020
UBA52Oct 12, 2020
UBE3A1Sep 23, 2021
UBE3B2Oct 8, 2020
UBR11Oct 12, 2020
UBTF1Oct 12, 2020
UFSP21Oct 4, 2021
UNC13A1Oct 12, 2020
UNC13C1Oct 12, 2020
UNC802Oct 12, 2020
URB21Apr 20, 2020
USH2A7Oct 4, 2021
USP9X2Oct 12, 2020
VARS12Feb 25, 2020
VCP1Apr 20, 2020
VLDLR1Oct 12, 2020
VPS111Apr 20, 2020
VPS13B7Sep 23, 2021
VPS13C1Oct 12, 2020
VPS13D1Sep 23, 2021
WAC1Apr 20, 2020
WAS3Sep 23, 2021
WASHC41Jan 27, 2021
WASHC51Oct 12, 2020
WDFY314Nov 23, 2021
WDR262Nov 23, 2021
WDR458Dec 28, 2021
WDR624Oct 12, 2020
WDR815Oct 12, 2020
WFS12Oct 12, 2020
WNT11Feb 25, 2020
WNT10B1Apr 20, 2020
WRN3Sep 29, 2021
WT11Apr 20, 2020
WWOX4Feb 25, 2021
XIAP1Apr 20, 2020
XPR11Oct 12, 2020
YAP11Oct 12, 2020
YARS12Oct 12, 2020
YARS21Sep 23, 2021
YWHAG1Dec 11, 2020
ZAP701Oct 12, 2020
ZBTB182Apr 20, 2020
ZC4H21Oct 12, 2020
ZEB25Sep 23, 2021
ZFPM21Oct 12, 2020
ZFPM2-AS11Oct 12, 2020
ZFYVE261Oct 12, 2020
ZIC21Nov 23, 2021
ZIC31Oct 12, 2020
ZMIZ12Sep 23, 2021
ZMPSTE242Sep 29, 2021
ZMYM21Nov 23, 2021
ZMYND1113Sep 29, 2021
ZNF2921Jan 20, 2021
ZNF3351Oct 12, 2020
ZNF4622Dec 28, 2021
ZNF6271Sep 23, 2021
ZNF7111Apr 20, 2020
ZSWIM62Oct 12, 2020

Condition

NameSubmissionsLast Updated
16p11.2p12.2 microduplication syndrome1Dec 28, 2021
2-3 finger syndactyly1Nov 23, 2021
2-hydroxyglutaric aciduria2Sep 23, 2021
22q13.3 deletion syndrome5Dec 28, 2021
3-methylcrotonyl CoA carboxylase 2 deficiency2Oct 12, 2020
3MC syndrome 11Sep 23, 2021
3q29 microdeletion syndrome1Dec 28, 2021
46,XY sex reversal, type 61Oct 12, 2020
4p partial monosomy syndrome1Sep 23, 2021
ADan amyloidosis1Apr 20, 2020
ALG1-CDG1Oct 12, 2020
ALG8-CDG1Dec 28, 2021
Aarskog syndrome2Oct 12, 2020
Abdominal obesity-metabolic syndrome 31Sep 23, 2021
Abnormal facial shape1Dec 28, 2021
Abnormal foot morphology1Dec 28, 2021
Abnormality of brain morphology1Sep 23, 2021
Abnormality of finger1Oct 12, 2020
Abnormality of the face3Dec 28, 2021
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
Acrocephalosyndactyly type I1Sep 23, 2021
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
Adenocarcinoma1Sep 23, 2021
Adenylosuccinate lyase deficiency2Oct 12, 2020
Adermatoglyphia1Apr 20, 2020
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete1Oct 12, 2020
Adrenoleukodystrophy16Sep 29, 2021
Adult hypophosphatasia10Sep 23, 2021
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 syndrome3Nov 23, 2021
Alexander Disease1Apr 20, 2020
Allan-Herndon-Dudley syndrome1Oct 12, 2020
Alpha thalassemia-X-linked intellectual disability syndrome9Sep 23, 2021
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity1Apr 20, 2020
Alport syndrome 1, X-linked recessive7Sep 29, 2021
Alport syndrome 3, autosomal dominant4Sep 29, 2021
Alport syndrome, autosomal recessive4Sep 23, 2021
Alstrom syndrome6Oct 4, 2021
Alternating hemiplegia of childhood 13Oct 12, 2020
Alternating hemiplegia of childhood 22Jul 22, 2021
Alzheimer disease1Oct 12, 2020
Alzheimer disease, type 31Apr 20, 2020
Amyotrophic lateral sclerosis 211Apr 20, 2020
Amyotrophic lateral sclerosis type 11Apr 20, 2020
Amyotrophic lateral sclerosis type 41Sep 23, 2021
Androgen resistance syndrome1Sep 23, 2021
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Oct 12, 2020
Angelman syndrome1Sep 23, 2021
Angiokeratoma corporis diffusum2Oct 12, 2020
Aniridia 11Oct 12, 2020
Anophthalmia/microphthalmia-esophageal atresia syndrome1Sep 23, 2021
Aortic aneurysm1Sep 29, 2021
Aortic aneurysm, familial thoracic 101Nov 23, 2021
Aortic aneurysm, familial thoracic 47Sep 29, 2021
Aortic aneurysm, familial thoracic 71Apr 20, 2020
Aortic valve disease 11Apr 20, 2020
Aortic valve disease 22Dec 28, 2021
Aortic valve disease 31Feb 5, 2021
Aplasia/Hypoplasia of the inner ear1Dec 28, 2021
Arboleda-Tham syndrome4Sep 23, 2021
Argininosuccinate lyase deficiency1Apr 20, 2020
Arrhythmogenic right ventricular cardiomyopathy, type 103Nov 23, 2021
Arrhythmogenic right ventricular cardiomyopathy, type 111Nov 23, 2021
Arrhythmogenic right ventricular dysplasia 89Sep 29, 2021
Arrhythmogenic right ventricular dysplasia 95Sep 29, 2021
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 2B11Sep 23, 2021
Arthrogryposis, distal, type 2B21Oct 12, 2020
Arthrogryposis, distal, type 2B31Oct 12, 2020
Asparagine synthetase deficiency1Oct 12, 2020
Aspartylglucosaminuria1Apr 20, 2020
Astigmatism2Dec 28, 2021
Ataxia-pancytopenia syndrome1Oct 12, 2020
Ataxia-telangiectasia syndrome3Oct 12, 2020
Ateleiotic dwarfism3Oct 12, 2020
Atelosteogenesis type 11Apr 20, 2020
Atonic seizure1Dec 28, 2021
Attention deficit hyperactivity disorder1Dec 28, 2021
Auriculocondylar syndrome 21Oct 4, 2021
Autism 51Oct 4, 2021
Autism spectrum disorder1Sep 29, 2021
Autism, susceptibility to, 182Sep 29, 2021
Autism, susceptibility to, X-linked 21Apr 20, 2020
Autism, susceptibility to, X-linked 41Apr 20, 2020
Autism, susceptibility to, X-linked 61Oct 12, 2020
Autistic behavior1Dec 28, 2021
Autistic disorder1Oct 4, 2021
Autoimmune disease, multisystem, infantile-onset, 11Apr 20, 2020
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated1Sep 23, 2021
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 cerebellar ataxia-saccadic intrusion syndrome1Sep 23, 2021
Autosomal recessive congenital ichthyosis 23Sep 23, 2021
Autosomal recessive congenital ichthyosis 31Oct 12, 2020
Autosomal recessive inheritance4Nov 23, 2021
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 205Jul 22, 2021
Bainbridge-Ropers syndrome7Sep 23, 2021
Baraitser-Winter Syndrome 21Oct 4, 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
Barrett esophagus1Sep 23, 2021
Bartsocas-Papas syndrome1Sep 23, 2021
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
Basilicata-Akhtar syndrome1Sep 23, 2021
Beaulieu-Boycott-Innes syndrome1Feb 25, 2020
Beck-Fahrner syndrome2Sep 23, 2021
Becker muscular dystrophy1Apr 20, 2020
Benign concentric annular macular dystrophy1Dec 28, 2021
Benign familial neonatal seizures 14Dec 28, 2021
Benign familial neonatal seizures 23Sep 23, 2021
Benign hereditary chorea1Oct 12, 2020
Benign scapuloperoneal muscular dystrophy with cardiomyopathy1Apr 20, 2020
Beta-hydroxyisobutyryl-CoA deacylase deficiency2Oct 12, 2020
Beta-thalassemia, dominant inclusion body type2Sep 29, 2021
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 type3Sep 23, 2021
Bloom syndrome1Oct 12, 2020
Bohring-Opitz syndrome4Sep 23, 2021
Borjeson-Forssman-Lehmann syndrome2Oct 12, 2020
Bosch-Boonstra-Schaaf optic atrophy syndrome2Apr 20, 2020
Brachycephaly3Dec 28, 2021
Brachydactyly-syndactyly syndrome1Apr 20, 2020
Brain abnormalities, neurodegeneration, and dysosteosclerosis1Jul 22, 2021
Brain malformations and urinary tract defects2Nov 23, 2021
Brain small vessel disease 1 with or without ocular anomalies2Sep 29, 2021
Branched-chain keto acid dehydrogenase kinase deficiency1Sep 23, 2021
Branchiooculofacial syndrome1Oct 12, 2020
Branchiootic syndrome 31Oct 12, 2020
Breast carcinoma31Dec 28, 2021
Breast neoplasm7Oct 12, 2020
Breast-ovarian cancer, familial 142Dec 28, 2021
Breast-ovarian cancer, familial 241Dec 28, 2021
Breast-ovarian cancer, familial 310Sep 23, 2021
Breast-ovarian cancer, familial 47Sep 23, 2021
Bruck syndrome 11Oct 12, 2020
Brugada syndrome 19Oct 12, 2020
Brugada syndrome 21Sep 23, 2021
Brugada syndrome 51Oct 12, 2020
CFHR5 deficiency2Oct 12, 2020
CHARGE association5Oct 12, 2020
CHOPRA-AMIEL-GORDON SYNDROME2Nov 23, 2021
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 13Nov 23, 2021
Cardiofaciocutaneous syndrome 32Sep 29, 2021
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 3, multiple types1Sep 29, 2021
Cataract 41Oct 12, 2020
Catecholaminergic polymorphic ventricular tachycardia type 11Sep 23, 2021
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, nonprogressive, with mental retardation1Sep 29, 2021
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1Apr 20, 2020
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 23Nov 23, 2021
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 115Sep 29, 2021
Cerebral cavernous malformation2Sep 29, 2021
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 15Dec 28, 2021
Charcot-Marie-Tooth disease axonal type 2F1Sep 23, 2021
Charcot-Marie-Tooth disease axonal type 2K1Oct 12, 2020
Charcot-Marie-Tooth disease dominant intermediate d3Sep 23, 2021
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 2T2Sep 23, 2021
Charcot-Marie-Tooth disease, demyelinating, type 1b1Sep 23, 2021
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 2A2A3Nov 23, 2021
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 IA2Dec 28, 2021
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 15q11.2 deletion syndrome2Dec 28, 2021
Chromosome 15q13.3 microdeletion syndrome1Dec 28, 2021
Chromosome 16p11.2 deletion syndrome, 220 kb8Dec 28, 2021
Chromosome 16p11.2 duplication syndrome1Dec 28, 2021
Chromosome 16p12.1 deletion syndrome, 520kb4Dec 28, 2021
Chromosome 17q12 deletion syndrome1Dec 28, 2021
Chromosome 1q21.1 duplication syndrome1Dec 28, 2021
Chromosome 22q11.2 deletion syndrome, distal1Dec 28, 2021
Chromosome 22q11.2 microduplication syndrome1Dec 28, 2021
Chromosome 2q32-q33 deletion syndrome3Nov 23, 2021
Chromosome 2q37 deletion syndrome1Oct 12, 2020
Chromosome 7q11.23 deletion syndrome, distal, 1.2-mb1Dec 28, 2021
Chromosome Xq28 deletion syndrome1Apr 20, 2020
Chronic kidney disease1Oct 12, 2020
Ciliary dyskinesia, primary, 141Oct 12, 2020
Ciliary dyskinesia, primary, 401Oct 12, 2020
Ciliary dyskinesia, primary, 71Sep 23, 2021
Citrullinemia type II1Oct 12, 2020
Clark-Baraitser syndrome5Sep 23, 2021
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency3Sep 29, 2021
Classic homocystinuria1Oct 8, 2020
Cleft palate, cardiac defects, and mental retardation1Sep 23, 2021
Cleidocranial dysostosis2Oct 12, 2020
Cobalamin C disease3Dec 28, 2021
Cockayne syndrome B1Apr 20, 2020
Coenzyme Q10 deficiency, primary, 41Apr 20, 2020
Coenzyme Q10 deficiency, primary, 61Oct 12, 2020
Coffin-Siris syndrome 112Sep 23, 2021
Coffin-Siris syndrome 102Sep 23, 2021
Coffin-Siris syndrome 63Sep 23, 2021
Coffin-Siris syndrome 82Sep 23, 2021
Cognitive impairment with or without cerebellar ataxia5Sep 23, 2021
Cohen syndrome7Sep 23, 2021
Cole disease1Oct 12, 2020
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation1Oct 12, 2020
Colorectal polyposis1Oct 12, 2020
Combined cellular and humoral immune defects with granulomas3Sep 23, 2021
Combined immunodeficiency due to ZAP70 deficiency1Oct 12, 2020
Combined immunodeficiency, X-linked1Apr 20, 2020
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21Jul 22, 2021
Combined oxidative phosphorylation deficiency 242Sep 29, 2021
Combined oxidative phosphorylation deficiency 351Oct 12, 2020
Combined oxidative phosphorylation deficiency 62Oct 12, 2020
Combined oxidative phosphorylation deficiency 71Sep 23, 2021
Common variable immunodeficiency 101Sep 23, 2021
Common variable immunodeficiency 23Sep 29, 2021
Complement component 5 deficiency1Oct 12, 2020
Concentric hypertrophic cardiomyopathy2Dec 28, 2021
Concomitant strabismus1Dec 28, 2021
Cone dystrophy with supernormal rod response1Oct 12, 2020
Cone-rod dystrophy 121Sep 29, 2021
Cone-rod dystrophy 152Dec 28, 2021
Cone-rod dystrophy 212Oct 4, 2021
Cone-rod dystrophy 37Sep 29, 2021
Cone-rod dystrophy 61Sep 29, 2021
Congenital anomalies of kidney and urinary tract30Nov 17, 2021
Congenital contractures of the limbs and face, hypotonia, and developmental delay3Sep 23, 2021
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 Ia2Nov 23, 2021
Congenital disorder of glycosylation, type iit1Mar 7, 2021
Congenital generalized lipodystrophy type 11Sep 23, 2021
Congenital heart defects and ectodermal dysplasia1Oct 12, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2Nov 23, 2021
Congenital heart defects, multiple types, 71Sep 23, 2021
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 myopathy with fiber type disproportion1Sep 23, 2021
Congenital myotonia, autosomal dominant form6Oct 12, 2020
Congenital ocular coloboma1Dec 28, 2021
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 18Sep 23, 2021
Cornelia de Lange syndrome 33Sep 23, 2021
Cornelia de Lange syndrome 41Sep 23, 2021
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
Cowchock syndrome1Sep 29, 2021
Cowden syndrome 14Oct 12, 2020
Coxopodopatellar syndrome1Apr 20, 2020
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome2Feb 25, 2020
Craniofacial dysostosis1Sep 23, 2021
Craniosynostosis 31Oct 12, 2020
Craniosynostosis 71Apr 20, 2020
Creatine transporter deficiency6Dec 28, 2021
Creutzfeldt-Jakob Disease, Familial1Oct 12, 2020
Culler-Jones syndrome6Sep 23, 2021
Cutis laxa, autosomal dominant 11Oct 12, 2020
Cutis laxa, autosomal dominant 21Oct 12, 2020
Cutis laxa, autosomal dominant 31Apr 20, 2020
Cystic fibrosis2Sep 23, 2021
Cystic renal dysplasia1Oct 12, 2020
Cystinuria3Oct 12, 2020
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome1Apr 20, 2020
DOORS syndrome1Oct 12, 2020
Danon disease1Sep 23, 2021
Deafness dystonia syndrome1Sep 23, 2021
Deafness, X-linked 21Nov 23, 2021
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 133Oct 12, 2020
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11Oct 12, 2020
Deafness, autosomal dominant 561Apr 20, 2020
Deafness, autosomal recessive 121Sep 23, 2021
Deafness, autosomal recessive 1A2Sep 29, 2021
Deafness, autosomal recessive 31Oct 12, 2020
Deafness, autosomal recessive 36, with or without vestibular involvement1Oct 8, 2020
Deafness, autosomal recessive 82Sep 29, 2021
Decreased body weight1Nov 23, 2021
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
Delayed speech and language development2Dec 28, 2021
Deletion of short arm of chromosome 181Dec 28, 2021
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency1Oct 12, 2020
Dent disease type 13Sep 23, 2021
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 9417Dec 28, 2021
Developmental and epileptic encephalopathy, 251Apr 20, 2020
Developmental and epileptic encephalopathy, 291Oct 12, 2020
Developmental and epileptic encephalopathy, 4218Dec 28, 2021
Developmental and epileptic encephalopathy, 561Dec 11, 2020
Developmental and epileptic encephalopathy, 572Dec 28, 2021
Developmental and epileptic encephalopathy, 632Nov 23, 2021
Developmental and epileptic encephalopathy, 642Sep 29, 2021
Developmental and epileptic encephalopathy, 651Apr 20, 2020
Developmental and epileptic encephalopathy, 661Sep 23, 2021
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, 713Nov 23, 2021
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, 85, with or without midline brain defects1Nov 23, 2021
Developmental and epileptic encephalopathy, 871Oct 12, 2020
Developmental delay and seizures with or without movement abnormalities3Sep 23, 2021
Developmental delay with autism spectrum disorder and gait instability2Oct 12, 2020
Developmental delay with dysmorphic facies and dental anomalies1Dec 28, 2021
Developmental delay with or without dysmorphic facies and autism6Dec 28, 2021
Developmental delay with short stature, dysmorphic features, and sparse hair1Oct 12, 2020
Developmental delay with variable intellectual impairment and behavioral abnormalities4Sep 23, 2021
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy1Sep 23, 2021
Developmental delay, intellectual disability, obesity, and dysmorphic features7Dec 28, 2021
Diabetes mellitus, insulin-dependent, 201Oct 12, 2020
Diaphragmatic hernia 31Oct 12, 2020
Diarrhea 5, with tufting enteropathy, congenital1Apr 20, 2020
Diastrophic dysplasia2Sep 23, 2021
Dihydropyrimidine dehydrogenase deficiency1Jul 22, 2021
Dilated cardiomyopathy 1A5Oct 12, 2020
Dilated cardiomyopathy 1CC1Oct 12, 2020
Dilated cardiomyopathy 1E2Oct 12, 2020
Dilated cardiomyopathy 1EE1Oct 12, 2020
Dilated cardiomyopathy 1G7Dec 28, 2021
Dilated cardiomyopathy 1GG1Oct 12, 2020
Dilated cardiomyopathy 1JJ1Oct 12, 2020
Dilated cardiomyopathy 1S10Sep 29, 2021
Dilated cardiomyopathy 3B1Sep 23, 2021
Distal hereditary motor neuronopathy 2D1Sep 23, 2021
Distal hereditary motor neuronopathy type 2B3Dec 28, 2021
Donnai-Barrow syndrome1Oct 12, 2020
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Sep 29, 2021
Dowling-Degos disease 11Oct 12, 2020
Duchenne muscular dystrophy7Oct 12, 2020
Dyggve-Melchior-Clausen syndrome1Oct 12, 2020
Dyskeratosis congenita, autosomal dominant, 21Apr 20, 2020
Dyskinesia, familial, with facial myokymia2Apr 20, 2020
Dyskinesia, seizures, and intellectual developmental disorder1Sep 23, 2021
Dystonia 122Apr 20, 2020
Dystonia 28, childhood-onset3Sep 29, 2021
Dystonia 53Sep 23, 2021
EAST syndrome1Apr 20, 2020
Early infantile epileptic encephalopathy 105Dec 11, 2020
Early infantile epileptic encephalopathy 1115Jan 20, 2021
Early infantile epileptic encephalopathy 1318Oct 4, 2021
Early infantile epileptic encephalopathy 142Apr 20, 2020
Early infantile epileptic encephalopathy 172Nov 23, 2021
Early infantile epileptic encephalopathy 181Oct 12, 2020
Early infantile epileptic encephalopathy 215Dec 28, 2021
Early infantile epileptic encephalopathy 211Apr 20, 2020
Early infantile epileptic encephalopathy 419Sep 29, 2021
Early infantile epileptic encephalopathy 528Nov 23, 2021
Early infantile epileptic encephalopathy 6215Dec 28, 2021
Early infantile epileptic encephalopathy 713Nov 23, 2021
Early infantile epileptic encephalopathy 81Apr 20, 2020
Early infantile epileptic encephalopathy 911Dec 28, 2021
Early infantile epileptic encephalopathy with suppression bursts25Sep 23, 2021
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 due to tenascin-X deficiency1Sep 23, 2021
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 43Sep 23, 2021
Ehlers-danlos syndrome, arthrochalasia type, 21Oct 12, 2020
Eichsfeld type congenital muscular dystrophy1Oct 12, 2020
Elliptocytosis 22Sep 23, 2021
Emery-Dreifuss muscular dystrophy 5, autosomal dominant2Oct 12, 2020
Encephalopathy due to defective mitochondrial and peroxisomal fission 11Sep 23, 2021
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
Epilepsy15Mar 4, 2021
Epilepsy, X-linked, with variable learning disabilities and behavior disorders1Apr 20, 2020
Epilepsy, childhood absence 22Oct 4, 2021
Epilepsy, familial adult myoclonic, 71Oct 12, 2020
Epilepsy, familial focal, with variable foci 18Oct 4, 2021
Epilepsy, familial focal, with variable foci 23Nov 23, 2021
Epilepsy, familial focal, with variable foci 38Nov 23, 2021
Epilepsy, familial focal, with variable foci 41Apr 20, 2020
Epilepsy, familial temporal lobe, 51Sep 23, 2021
Epilepsy, familial temporal lobe, 73Sep 23, 2021
Epilepsy, focal, with speech disorder and with or without mental retardation93Nov 23, 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, 54Sep 23, 2021
Epilepsy, nocturnal frontal lobe, type 11Sep 23, 2021
Epilepsy, nocturnal frontal lobe, type 32Sep 29, 2021
Epilepsy, nocturnal frontal lobe, type 41Oct 12, 2020
Epilepsy, progressive myoclonic 71Oct 12, 2020
Epileptic encephalopathy2Dec 28, 2021
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, 243Jul 22, 2021
Epileptic encephalopathy, early infantile, 268Dec 28, 2021
Epileptic encephalopathy, early infantile, 276Sep 29, 2021
Epileptic encephalopathy, early infantile, 283Apr 20, 2020
Epileptic encephalopathy, early infantile, 314Sep 23, 2021
Epileptic encephalopathy, early infantile, 323Nov 23, 2021
Epileptic encephalopathy, early infantile, 333Sep 23, 2021
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, 433Oct 12, 2020
Epileptic encephalopathy, early infantile, 442Oct 12, 2020
Epileptic encephalopathy, early infantile, 453Dec 28, 2021
Epileptic encephalopathy, early infantile, 469Nov 23, 2021
Epileptic encephalopathy, early infantile, 511Oct 12, 2020
Epileptic encephalopathy, early infantile, 542Nov 23, 2021
Epileptic encephalopathy, infantile or early childhood 31Sep 23, 2021
Epiphyseal chondrodysplasia, miura type2Apr 20, 2020
Epiphyseal dysplasia, multiple, 21Oct 12, 2020
Episodic ataxia1Oct 12, 2020
Episodic ataxia type 23Sep 23, 2021
Episodic ataxia, type 61Oct 12, 2020
Episodic kinesigenic dyskinesia 11Feb 25, 2020
Episodic pain syndrome, familial, 22Oct 4, 2021
Expressive language delay1Dec 28, 2021
Exudative vitreoretinopathy 11Oct 12, 2020
Exudative vitreoretinopathy 51Apr 20, 2020
FG syndrome 42Apr 20, 2020
FRAXE2Oct 12, 2020
Facial hypotonia1Dec 28, 2021
Facioscapulohumeral muscular dystrophy 21Sep 23, 2021
Failure to thrive2Dec 28, 2021
Familial adenomatous polyposis 15Oct 12, 2020
Familial cancer of breast124Dec 28, 2021
Familial expansile osteolysis1Sep 23, 2021
Familial febrile seizures 81Nov 23, 2021
Familial hemiplegic migraine type 12Sep 23, 2021
Familial hemiplegic migraine type 24Sep 23, 2021
Familial hemophagocytic lymphohistiocytosis 21Apr 20, 2020
Familial hypercholesterolemia 149Dec 28, 2021
Familial hypercholesterolemia 218Nov 23, 2021
Familial hypercholesterolemia 34Sep 23, 2021
Familial hyperkalemic periodic paralysis1Apr 20, 2020
Familial hypertriglyceridemia1Oct 12, 2020
Familial hypertrophic cardiomyopathy 14Nov 23, 2021
Familial hypertrophic cardiomyopathy 102Sep 29, 2021
Familial hypertrophic cardiomyopathy 201Apr 20, 2020
Familial hypertrophic cardiomyopathy 31Oct 12, 2020
Familial hypertrophic cardiomyopathy 47Dec 28, 2021
Familial hypertrophic cardiomyopathy 99Sep 23, 2021
Familial hypokalemia-hypomagnesemia1Apr 20, 2020
Familial mediterranean fever, autosomal dominant4Nov 23, 2021
Familial partial lipodystrophy 22Sep 23, 2021
Familial partial lipodystrophy 34Dec 28, 2021
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 anemia, complementation group J1Sep 23, 2021
Fanconi anemia, complementation group S1Sep 23, 2021
Fanconi-Bickel syndrome1Apr 20, 2020
Febrile seizures, familial, 112Nov 23, 2021
Feingold syndrome 11Sep 23, 2021
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
Focal segmental glomerulosclerosis and neurodevelopmental syndrome1Oct 4, 2021
Focal-onset seizure2Nov 23, 2021
Frank-Ter Haar syndrome1Sep 29, 2021
Frontometaphyseal dysplasia 21Jul 22, 2021
Frontotemporal dementia and/or amyotrophic lateral sclerosis 21Nov 23, 2021
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 17Nov 23, 2021
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 222Nov 23, 2021
Generalized epilepsy with febrile seizures plus, type 91Sep 23, 2021
Generalized juvenile polyposis/juvenile polyposis coli1Apr 20, 2020
Generalized-onset seizure1Dec 28, 2021
Gingival fibromatosis-hypertrichosis syndrome1Oct 12, 2020
Glaucoma 3, primary congenital, A2Oct 12, 2020
Global developmental delay11Dec 28, 2021
Global developmental delay with or without impaired intellectual development7Oct 12, 2020
Global developmental delay with speech and behavioral abnormalities1Nov 23, 2021
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 III2Sep 23, 2021
Glycogen storage disease type IXa12Oct 12, 2020
Glycogen storage disease, type II3Sep 29, 2021
Glycogen storage disease, type VI1Oct 12, 2020
Glycosylphosphatidylinositol biosynthesis defect 152Nov 23, 2021
Glycosylphosphatidylinositol biosynthesis defect 161Oct 12, 2020
Gordon syndrome1Apr 20, 2020
Gorlin syndrome5Sep 23, 2021
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions1Oct 12, 2020
Growth delay1Dec 28, 2021
Growth delay due to insulin-like growth factor I resistance5Dec 28, 2021
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1Apr 20, 2020
HYPERTRIGLYCERIDEMIA 21Nov 23, 2021
Hajdu-Cheney syndrome1Apr 20, 2020
Hartsfield syndrome1Oct 12, 2020
Hearing loss, autosomal dominant 371Sep 23, 2021
Hearing loss, autosomal dominant 732Sep 23, 2021
Heart, malformation of4Jan 15, 2021
Hecht syndrome1Oct 12, 2020
Heimler syndrome 11Oct 12, 2020
Heimler syndrome 21Oct 12, 2020
Helsmoortel-Van der Aa Syndrome8Sep 29, 2021
Hemochromatosis type 12Dec 28, 2021
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 spheroids7Oct 4, 2021
Hereditary hemorrhagic telangiectasia type 11Apr 20, 2020
Hereditary insensitivity to pain with anhidrosis1Oct 12, 2020
Hereditary nonpolyposis colorectal cancer type 49Dec 28, 2021
Hereditary nonpolyposis colorectal cancer type 511Oct 4, 2021
Hereditary nonpolyposis colorectal cancer type 61Jul 22, 2021
Hereditary nonpolyposis colorectal cancer type 71Jul 22, 2021
Hereditary pancreatitis1Jul 22, 2021
Hereditary sensory neuropathy type 1D2Sep 23, 2021
Hereditary spastic paraplegia 151Oct 12, 2020
Hereditary spastic paraplegia 5A1Apr 20, 2020
Hereditary spastic paraplegia 61Oct 12, 2020
Hereditary spastic paraplegia 76Oct 4, 2021
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 21Dec 28, 2021
Holoprosencephaly 33Oct 12, 2020
Holoprosencephaly 51Nov 23, 2021
Homocystinuria due to methylene tetrahydrofolate reductase deficiency2Oct 8, 2020
Huntington disease2Oct 12, 2020
Huntington disease-like 21Apr 20, 2020
Hurler syndrome1Oct 12, 2020
Hutchinson-Gilford syndrome1Jul 22, 2021
Hydrops fetalis2Dec 28, 2021
Hyper-IgE recurrent infection syndrome 1, autosomal dominant2Sep 23, 2021
Hyper-IgM syndrome type 11Apr 20, 2020
Hyperaldosteronism1Oct 12, 2020
Hypercholesterolemia3Nov 23, 2021
Hyperekplexia 11Oct 12, 2020
Hyperglycinuria1Oct 12, 2020
Hyperinsulinemic hypoglycemia, familial, 14Dec 28, 2021
Hyperinsulinism-hyperammonemia syndrome1Oct 12, 2020
Hyperlipidemia, familial combined, LPL related2Oct 12, 2020
Hyperlipoproteinemia1Dec 28, 2021
Hyperlipoproteinemia, type ID2Oct 12, 2020
Hyperopia, high1Oct 4, 2021
Hyperphosphatasia with mental retardation syndrome 12Nov 23, 2021
Hyperphosphatasia with mental retardation syndrome 31Oct 8, 2020
Hypertelorism1Dec 28, 2021
Hypertriglyceridemia, transient infantile1Dec 28, 2021
Hypertrophic cardiomyopathy3Dec 28, 2021
Hypertrophic cardiomyopathy 251Apr 20, 2020
Hypobetalipoproteinemia, familial, 11Sep 23, 2021
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 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, ataxia, and delayed development syndrome3Sep 29, 2021
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
Ichthyosis, congenital, autosomal recessive 132Sep 23, 2021
Idiopathic basal ganglia calcification 51Apr 20, 2020
Idiopathic generalized epilepsy1Apr 20, 2020
Immunodeficiency 141Sep 23, 2021
Immunodeficiency 27b1Oct 12, 2020
Immunodeficiency 31C1Apr 20, 2020
Immunodeficiency 32b1Sep 23, 2021
Immunodeficiency 361Sep 23, 2021
Immunodeficiency 401Oct 12, 2020
Immunodeficiency 501Oct 12, 2020
Immunodeficiency 641Oct 12, 2020
Immunodeficiency 672Sep 23, 2021
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia1Apr 20, 2020
Immunodeficiency, common variable, 124Sep 23, 2021
Immunodeficiency, common variable, 131Sep 23, 2021
Impaired social interactions1Dec 28, 2021
Impulsivity1Dec 28, 2021
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 11Apr 20, 2020
Incontinentia pigmenti syndrome1Nov 23, 2021
Increased nuchal translucency1Jan 15, 2021
Infantile cerebellar-retinal degeneration1Oct 12, 2020
Infantile convulsions and choreoathetosis2Apr 20, 2020
Infantile cortical hyperostosis2Oct 12, 2020
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome1Sep 29, 2021
Infantile liver failure syndrome 11Sep 29, 2021
Infantile muscular hypotonia1Dec 28, 2021
Infantile nystagmus, X-linked1Apr 20, 2020
Insulin-resistant diabetes mellitus AND acanthosis nigricans1Apr 20, 2020
Intellectual developmental disorder 60 with seizures1Sep 23, 2021
Intellectual developmental disorder 6246Dec 28, 2021
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature1Nov 23, 2021
Intellectual developmental disorder with autistic features and language delay, with or without seizures3Dec 28, 2021
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1Sep 23, 2021
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 abnormalities42Dec 28, 2021
Intellectual developmental disorder with dysmorphic facies and ptosis1Oct 12, 2020
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold2Sep 29, 2021
Intellectual developmental disorder with hypotonia and behavioral abnormalities1Oct 12, 2020
Intellectual developmental disorder with macrocephaly, seizures, and speech delay5Nov 23, 2021
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia2Oct 12, 2020
Intellectual developmental disorder with persistence of fetal hemoglobin3Sep 29, 2021
Intellectual developmental disorder with seizures and language delay1Dec 28, 2021
Intellectual developmental disorder with severe speech and ambulation defects1Oct 4, 2021
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies2Sep 23, 2021
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1Apr 20, 2020
Intellectual developmental disorder, autosomal dominant 651Dec 28, 2021
Intellectual developmental disorder, autosomal recessive 671Jul 22, 2021
Intellectual developmental disorder, autosomal recessive 682Sep 23, 2021
Intellectual developmental disorder, autosomal recessive 701Sep 23, 2021
Intellectual disability109Dec 28, 2021
Intellectual disability, X-linked 1061Sep 23, 2021
Intellectual disability, X-linked 212Oct 12, 2020
Intellectual disability, X-linked syndromic, Turner type7Jul 22, 2021
Intellectual disability, X-linked, syndromic, Houge type3Nov 23, 2021
Intellectual disability, autosomal dominant 394Dec 28, 2021
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 502Oct 4, 2021
Intellectual disability, autosomal dominant 511Apr 20, 2020
Intellectual disability, autosomal dominant 521Sep 23, 2021
Intellectual disability, autosomal dominant 531Sep 23, 2021
Intellectual disability, autosomal dominant 541Apr 20, 2020
Intellectual disability, autosomal dominant 55, with seizures2Dec 28, 2021
Intellectual disability, autosomal dominant 562Sep 23, 2021
Intellectual disability, autosomal dominant 573Oct 4, 2021
Intellectual disability, autosomal dominant 582Apr 20, 2020
Intellectual disability, autosomal dominant 94Oct 12, 2020
Intellectual disability, autosomal recessive 271Oct 8, 2020
Intellectual disability, autosomal recessive 531Oct 4, 2021
Intellectual disability, autosomal recessive 651Apr 20, 2020
Intellectual disability, autosomal recessive 661Oct 8, 2020
Intellectual disability, borderline1Dec 28, 2021
Intellectual disability, mild2Oct 4, 2021
Intellectual disability, severe5Nov 23, 2021
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1Oct 12, 2020
Isovaleryl-CoA dehydrogenase deficiency2Oct 12, 2020
Jervell and Lange-Nielsen syndrome 11Jul 22, 2021
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 54Sep 29, 2021
Joubert syndrome 63Nov 23, 2021
Joubert syndrome 92Sep 23, 2021
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1Nov 23, 2021
Juvenile retinoschisis1Oct 4, 2021
KBG syndrome11Oct 4, 2021
Kabuki syndrome 113Sep 23, 2021
Kabuki syndrome 21Oct 12, 2020
Kartagener syndrome1Sep 23, 2021
Kaufman oculocerebrofacial syndrome2Oct 8, 2020
Kleefstra syndrome 18Sep 29, 2021
Kleefstra syndrome 28Dec 28, 2021
Klippel-Feil syndrome 1, autosomal dominant1Apr 20, 2020
Klippel-Feil syndrome 3, autosomal dominant1Oct 12, 2020
Kniest dysplasia1Apr 20, 2020
Knobloch syndrome 14Sep 29, 2021
Kohlschutter-Tonz syndrome-like1Nov 23, 2021
Koolen-de Vries syndrome2Sep 29, 2021
Kufor-Rakeb syndrome2Oct 12, 2020
L-2-hydroxyglutaric aciduria2Sep 23, 2021
LEOPARD syndrome 13Apr 20, 2020
Lafora disease1Oct 12, 2020
Lamb-shaffer syndrome5Sep 23, 2021
Large for gestational age2Dec 28, 2021
Leber congenital amaurosis 81Oct 12, 2020
Leber optic atrophy1Sep 29, 2021
Left ventricular noncompaction 108Sep 23, 2021
Left ventricular noncompaction 64Oct 12, 2020
Leigh syndrome1Sep 29, 2021
Lenz-Majewski hyperostosis syndrome2Oct 12, 2020
Lessel-Kreienkamp syndrome1Nov 23, 2021
Lethal congenital contracture syndrome 101Oct 12, 2020
Lethal tight skin contracture syndrome2Sep 29, 2021
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
Leukodystrophy, hypomyelinating, 61Sep 23, 2021
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 16Sep 29, 2021
Li-Fraumeni syndrome 22Sep 23, 2021
Li-Ghorbani-Weisz-Hubshman syndrome1Dec 28, 2021
Lig4 syndrome1Oct 12, 2020
Limb-girdle muscular dystrophy, type 2A2Sep 23, 2021
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51Apr 20, 2020
Lipoprotein glomerulopathy1Oct 12, 2020
Lissencephaly 101Sep 23, 2021
Lissencephaly 81Mar 7, 2021
Lissencephaly 9 with complex brainstem malformation2Oct 12, 2020
Lissencephaly due to LIS1 mutation5Sep 29, 2021
Lissencephaly due to TUBA1A mutation7Sep 23, 2021
Lissencephaly, X-linked2Sep 23, 2021
Localized epidermolysis bullosa simplex1Oct 12, 2020
Loeys-Dietz syndrome 21Sep 29, 2021
Loeys-Dietz syndrome 32Oct 12, 2020
Long QT syndrome 19Sep 23, 2021
Long QT syndrome 25Oct 12, 2020
Lowe syndrome1Sep 23, 2021
Luscan-lumish syndrome2Apr 20, 2020
Lymphedema, primary, with myelodysplasia1Oct 12, 2020
Lymphoproliferative syndrome 2, X-linked1Apr 20, 2020
Lynch syndrome I9Oct 4, 2021
Lynch syndrome II9Jul 22, 2021
Lysosomal acid lipase deficiency1Apr 20, 2020
MASA syndrome1Oct 12, 2020
MYH-associated polyposis3Sep 23, 2021
Macrocephaly, acquired, with impaired intellectual development3Oct 12, 2020
Macroglossia1Oct 4, 2021
Macular dystrophy3Dec 28, 2021
Macular dystrophy with central cone involvement1Sep 23, 2021
Macular dystrophy, patterned, 11Oct 12, 2020
Macular dystrophy, vitelliform, adult-onset2Apr 20, 2020
Malignant Colorectal Neoplasm3Oct 12, 2020
Malignant hyperthermia, susceptibility to, 117Dec 28, 2021
Malignant hyperthermia, susceptibility to, 51Sep 29, 2021
Malignant tumor of prostate1Sep 29, 2021
Mandibulofacial dysostosis-microcephaly syndrome3Sep 23, 2021
Maple syrup urine disease2Nov 23, 2021
Marfan syndrome11Sep 29, 2021
Marinesco-Sjögren syndrome1Oct 12, 2020
Marshall syndrome4Oct 12, 2020
Marshall-Smith syndrome1Sep 23, 2021
Maturity-onset diabetes of the young, type 23Sep 29, 2021
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 21Oct 4, 2021
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 30, X-linked1Oct 12, 2020
Mental retardation 49, X-linked3Sep 29, 2021
Mental retardation 63, X-linked1Oct 12, 2020
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance2Sep 23, 2021
Mental retardation and distinctive facial features with or without cardiac defects13Sep 23, 2021
Mental retardation with language impairment and with or without autistic features9Sep 23, 2021
Mental retardation, X-linked 16Dec 28, 2021
Mental retardation, X-linked 1029Nov 23, 2021
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 932Sep 29, 2021
Mental retardation, X-linked 961Oct 12, 2020
Mental retardation, X-linked 983Sep 29, 2021
Mental retardation, X-linked 991Oct 12, 2020
Mental retardation, X-linked 99, syndromic, female-restricted1Apr 20, 2020
Mental retardation, X-linked, syndromic 101Apr 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, Hedera type1Sep 23, 2021
Mental retardation, X-linked, syndromic, wu type1Oct 12, 2020
Mental retardation, autosomal dominant 11Oct 12, 2020
Mental retardation, autosomal dominant 1312Oct 4, 2021
Mental retardation, autosomal dominant 146Oct 12, 2020
Mental retardation, autosomal dominant 163Nov 23, 2021
Mental retardation, autosomal dominant 182Oct 12, 2020
Mental retardation, autosomal dominant 194Dec 28, 2021
Mental retardation, autosomal dominant 2133Nov 23, 2021
Mental retardation, autosomal dominant 222Apr 20, 2020
Mental retardation, autosomal dominant 231Nov 23, 2021
Mental retardation, autosomal dominant 244Sep 29, 2021
Mental retardation, autosomal dominant 265Nov 23, 2021
Mental retardation, autosomal dominant 272Sep 29, 2021
Mental retardation, autosomal dominant 292Oct 12, 2020
Mental retardation, autosomal dominant 3013Sep 29, 2021
Mental retardation, autosomal dominant 311Dec 28, 2021
Mental retardation, autosomal dominant 331Jul 22, 2021
Mental retardation, autosomal dominant 341Apr 20, 2020
Mental retardation, autosomal dominant 351Apr 20, 2020
Mental retardation, autosomal dominant 364Sep 23, 2021
Mental retardation, autosomal dominant 413Sep 23, 2021
Mental retardation, autosomal dominant 425Sep 29, 2021
Mental retardation, autosomal dominant 433Nov 23, 2021
Mental retardation, autosomal dominant 4412Dec 28, 2021
Mental retardation, autosomal dominant 59Dec 28, 2021
Mental retardation, autosomal dominant 673Sep 29, 2021
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 32Oct 12, 2020
Mental retardation, autosomal recessive 361Oct 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 572Sep 23, 2021
Mental retardation, autosomal recessive 602Nov 23, 2021
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 leukodystrophy7Oct 4, 2021
Metaphyseal chondrodysplasia, Schmid type2Apr 20, 2020
Methylmalonic acidemia with homocystinuria, type cblJ1Oct 12, 2020
Methylmalonic acidemia with homocystinuria, type cblX2Oct 12, 2020
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant2Apr 20, 2020
Microcephalic osteodysplastic primordial dwarfism type II3Dec 28, 2021
Microcephaly9Dec 28, 2021
Microcephaly 18, primary, autosomal dominant2Apr 20, 2020
Microcephaly and chorioretinopathy, autosomal recessive, 31Oct 12, 2020
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation2Oct 4, 2021
Microcephaly, postnatal progressive, with seizures and brain atrophy1Sep 23, 2021
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy2Nov 23, 2021
Microcephaly, short stature, and impaired glucose metabolism 11Oct 8, 2020
Microphthalmia, isolated 52Sep 29, 2021
Microretrognathia1Nov 23, 2021
Microtia1Nov 23, 2021
Migraine1Oct 12, 2020
Mild global developmental delay2Dec 28, 2021
Mild microcephaly2Dec 28, 2021
Mild short stature1Nov 23, 2021
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 DNA depletion syndrome 4B, MNGIE type2Sep 29, 2021
Mitochondrial complex 1 deficiency, nuclear type 191Oct 8, 2020
Mitochondrial disease1Sep 29, 2021
Mitral valve prolapse 21Oct 12, 2020
Moderate global developmental delay2Dec 28, 2021
Monocarboxylate transporter 1 deficiency1Oct 12, 2020
Mowat-Wilson syndrome5Sep 23, 2021
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
Muenke syndrome1Sep 23, 2021
Muir-Torré syndrome1Oct 12, 2020
Mullegama-Klein-Martinez syndrome1Sep 23, 2021
Multiple congenital anomalies-hypotonia-seizures syndrome 12Oct 12, 2020
Multiple congenital anomalies-hypotonia-seizures syndrome 22Oct 8, 2020
Multiple congenital anomalies-hypotonia-seizures syndrome 33Sep 29, 2021
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 11Sep 23, 2021
Multiple epiphyseal dysplasia type 41Apr 20, 2020
Multiple exostoses type 21Oct 12, 2020
Multiple fibrofolliculomas2Nov 23, 2021
Multiple mitochondrial dysfunctions syndrome 12Sep 29, 2021
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 epilepsy8Dec 28, 2021
Myoclonus, intractable, neonatal1Oct 12, 2020
Myopathy with postural muscle atrophy, X-linked1Oct 12, 2020
Myopathy, congenital, with tremor1Sep 29, 2021
Myopathy, distal, 41Sep 23, 2021
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 ophthalmoplegia2Sep 23, 2021
Myopia1Dec 28, 2021
Myopia 24, autosomal dominant1Sep 23, 2021
Myosin storage myopathy2Apr 20, 2020
N-terminal acetyltransferase deficiency2Oct 12, 2020
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES1Nov 23, 2021
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 22Oct 12, 2020
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 57Dec 28, 2021
Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline1Mar 7, 2021
Neurodevelopmental delay28Nov 23, 2021
Neurodevelopmental disorder42Dec 28, 2021
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly1Nov 23, 2021
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures1Jul 22, 2021
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities3Nov 23, 2021
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies2Sep 23, 2021
Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia1Nov 23, 2021
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities4Sep 29, 2021
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 nonspecific brain abnormalities and with or without seizures1Dec 28, 2021
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart2Sep 23, 2021
Neurodevelopmental disorder with or without early-onset generalized epilepsy1Sep 29, 2021
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant4Dec 28, 2021
Neurodevelopmental disorder with or without seizures and gait abnormalities3Sep 23, 2021
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA11May 12, 2020
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures2Sep 23, 2021
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements2Jul 22, 2021
Neurodevelopmental disorder with severe motor impairment and absent language1Sep 23, 2021
Neurodevelopmental disorder with speech impairment and dysmorphic facies1Sep 23, 2021
Neurodevelopmental disorder with visual defects and brain anomalies1Sep 29, 2021
Neurofibromatosis, type 121Dec 28, 2021
Neurofibromatosis-Noonan syndrome1Sep 23, 2021
Neurohypophyseal diabetes insipidus2Sep 23, 2021
Neuronal ceroid lipofuscinosis 31Apr 20, 2020
Neuronopathy, distal hereditary motor, type viia1Apr 20, 2020
Neurooculocardiogenitourinary syndrome1Dec 28, 2021
Neuropathy, hereditary sensory and autonomic, type VIII1Apr 20, 2020
Nicolaides-Baraitser syndrome10Sep 23, 2021
Niemann-Pick disease, type A2Oct 12, 2020
Nizon-Isidor syndrome1Nov 23, 2021
Non-ketotic hyperglycinemia3Oct 12, 2020
Noncompaction cardiomyopathy2Dec 28, 2021
Noonan syndrome 14Sep 23, 2021
Noonan syndrome 101Nov 23, 2021
Noonan syndrome 22Sep 23, 2021
Noonan syndrome 31Feb 25, 2020
Noonan syndrome 42Sep 23, 2021
Noonan syndrome 72Dec 28, 2021
Noonan syndrome 81Apr 20, 2020
Noonan syndrome 91Apr 20, 2020
Noonan syndrome-like disorder with loose anagen hair 11Apr 20, 2020
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1Sep 23, 2021
Norman-Roberts syndrome1Oct 12, 2020
O'Donnell-Luria-Rodan syndrome2Oct 12, 2020
Obesity5Dec 28, 2021
Obesity, hyperphagia, and developmental delay1Oct 12, 2020
Occult macular dystrophy1Oct 4, 2021
Ocular albinism, type II1Apr 20, 2020
Oculofaciocardiodental syndrome2Apr 20, 2020
Oculomotor apraxia1Sep 23, 2021
Oculootoradial syndrome2Sep 23, 2021
Okur-chung neurodevelopmental syndrome4Nov 23, 2021
Opitz GBBB syndrome, type II1Oct 12, 2020
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1Oct 4, 2021
Oral motor hypotonia1Dec 28, 2021
Ornithine carbamoyltransferase deficiency2Sep 29, 2021
Orofacial cleft 111Sep 23, 2021
Osteochondritis dissecans6Apr 20, 2020
Osteogenesis imperfecta type 71Oct 12, 2020
Osteogenesis imperfecta type 82Oct 12, 2020
Osteogenesis imperfecta type I7Sep 29, 2021
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 11Dec 28, 2021
Paragangliomas 22Oct 12, 2020
Paragangliomas 51Dec 28, 2021
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-onset2Sep 23, 2021
Paroxysmal nonkinesigenic dyskinesia 11Apr 20, 2020
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy3Apr 20, 2020
Patent foramen ovale1Dec 28, 2021
Peeling skin syndrome 61Oct 12, 2020
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease2Sep 23, 2021
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development2Dec 28, 2021
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
Pes cavus1Dec 28, 2021
Pes valgus1Dec 28, 2021
Peutz-Jeghers syndrome1Oct 12, 2020
Phenylketonuria6Oct 12, 2020
Pheochromocytoma1Dec 28, 2021
Pierpont syndrome2Oct 12, 2020
Pigmented nodular adrenocortical disease, primary, 21Oct 12, 2020
Pilarowski-Bjornsson syndrome1Oct 12, 2020
Pitt-Hopkins syndrome3Nov 23, 2021
Pitt-Hopkins-like syndrome 21Apr 20, 2020
Pituitary hormone deficiency, combined 22Sep 23, 2021
Pituitary hormone deficiency, combined, 11Apr 20, 2020
Pituitary stalk interruption syndrome5May 10, 2021
Pityriasis rubra pilaris1Sep 23, 2021
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease1Apr 20, 2020
Poirier-Bienvenu neurodevelopmental syndrome3Sep 23, 2021
Polyarteritis nodosa, childhoood-onset2Sep 23, 2021
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 2A1Oct 4, 2021
Pontocerebellar hypoplasia type 41Oct 12, 2020
Pontocerebellar hypoplasia, type 101Oct 8, 2020
Pontocerebellar hypoplasia, type 164Nov 23, 2021
Pontocerebellar hypoplasia, type 1b1Oct 12, 2020
Pontocerebellar hypoplasia, type 2f1Oct 8, 2020
Pontocerebellar hypoplasia, type 92Nov 23, 2021
Porencephaly 24Sep 23, 2021
Potassium-aggravated myotonia1Apr 20, 2020
Potocki-Lupski syndrome1Dec 28, 2021
Premature birth1Dec 28, 2021
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 erythromelalgia2Sep 23, 2021
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
Proportionate short stature1Dec 28, 2021
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 seizures3Sep 29, 2021
Pyridoxine-dependent epilepsy1Oct 12, 2020
Pyruvate dehydrogenase E1-alpha deficiency5Nov 23, 2021
Pyruvate kinase deficiency of red cells1Oct 12, 2020
RADIO-TARTAGLIA SYNDROME1Dec 28, 2021
Rahman syndrome2Nov 23, 2021
Recessive dystrophic epidermolysis bullosa1Apr 20, 2020
Recurrent infections1Oct 12, 2020
Recurrent infections of the middle ear1Sep 23, 2021
Recurrent respiratory infections1Sep 23, 2021
Renal cell carcinoma, papillary, 11Jul 22, 2021
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 11Sep 23, 2021
Retinal macular dystrophy type 21Sep 29, 2021
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1Sep 23, 2021
Retinitis pigmentosa 11Oct 12, 2020
Retinitis pigmentosa 151Apr 20, 2020
Retinitis pigmentosa 252Oct 12, 2020
Retinitis pigmentosa 262Sep 29, 2021
Retinitis pigmentosa 301Oct 12, 2020
Retinitis pigmentosa 311Oct 12, 2020
Retinitis pigmentosa 397Oct 4, 2021
Retinitis pigmentosa 44Oct 12, 2020
Retinitis pigmentosa 422Sep 23, 2021
Retinitis pigmentosa 451Oct 12, 2020
Retinitis pigmentosa 601Apr 20, 2020
Retinitis pigmentosa 71Sep 23, 2021
Retinitis pigmentosa 761Oct 12, 2020
Retinitis pigmentosa 802Nov 23, 2021
Rett syndrome13Dec 28, 2021
Rett syndrome, congenital variant56Nov 23, 2021
Ritscher-Schinzel syndrome 11Oct 12, 2020
Ritscher-Schinzel syndrome 41Dec 28, 2021
Ritscher-schinzel syndrome 22Apr 20, 2020
Round ear1Nov 23, 2021
Rubinstein-Taybi syndrome 14Oct 12, 2020
Rubinstein-Taybi syndrome 28Nov 23, 2021
SHORT syndrome1Apr 20, 2020
SLC39A8-CDG1Oct 8, 2020
Saldino-Mainzer syndrome2Dec 28, 2021
Sandhoff disease1Oct 12, 2020
Sarcoma1Oct 12, 2020
Schaaf-Yang syndrome1Oct 12, 2020
Schizophrenia1Dec 28, 2021
Schuurs-hoeijmakers syndrome1Nov 23, 2021
Schwannomatosis 22Dec 28, 2021
Schwartz-Jampel syndrome1Oct 12, 2020
Seckel syndrome 61Oct 12, 2020
Secondary hypothyroidism1Apr 20, 2020
Seizures23Dec 28, 2021
Seizures, benign familial infantile, 24Sep 29, 2021
Seizures, benign familial infantile, 35Nov 23, 2021
Seizures, benign familial infantile, 52Sep 29, 2021
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1Oct 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 global developmental delay2Oct 4, 2021
Severe hydrops fetalis2Dec 28, 2021
Severe myoclonic epilepsy in infancy29Dec 28, 2021
Severe neonatal-onset encephalopathy with microcephaly2Oct 12, 2020
Short 5th finger1Oct 4, 2021
Short finger1Dec 28, 2021
Short foot2Dec 28, 2021
Short stature3Nov 23, 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, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies1Dec 28, 2021
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 polydactyly4Dec 28, 2021
Shwachman-Diamond syndrome 11Dec 28, 2021
Sick sinus syndrome 2, autosomal dominant1Apr 20, 2020
Silver-Russell syndrome 33Nov 23, 2021
Silver-russell syndrome 41Nov 23, 2021
Single transverse palmar crease2Dec 28, 2021
Sitosterolemia 21Jul 22, 2021
Situs inversus totalis1Sep 23, 2021
Skin/hair/eye pigmentation, variation in, 11Oct 12, 2020
Skraban-Deardorff syndrome2Nov 23, 2021
Small face1Dec 28, 2021
Small hand2Dec 28, 2021
Smith-Kingsmore syndrome3Nov 23, 2021
Smith-Lemli-Opitz syndrome2Feb 25, 2020
Smith-Magenis syndrome4Oct 12, 2020
Snijders Blok-Campeau syndrome8Nov 23, 2021
Snijders blok-fisher syndrome1Apr 20, 2020
Somatosensory seizure1Sep 29, 2021
Sotos syndrome 15Oct 12, 2020
Sotos syndrome 23Nov 23, 2021
Spastic ataxia 5, autosomal recessive1Oct 12, 2020
Spastic paraparesis1Apr 20, 2020
Spastic paraplegia 11, autosomal recessive4Nov 23, 2021
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
Specific learning disability1Dec 28, 2021
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 401Sep 23, 2021
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 291Sep 23, 2021
Spinocerebellar ataxia type 53Oct 12, 2020
Spinocerebellar ataxia type 61Apr 20, 2020
Spinocerebellar ataxia, autosomal recessive 101Oct 12, 2020
Spinocerebellar ataxia, autosomal recessive 141Sep 23, 2021
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
Spondyloenchondrodysplasia with immune dysregulation1Sep 23, 2021
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 14Sep 29, 2021
Status epilepticus1Dec 28, 2021
Stocco dos Santos syndrome1Oct 12, 2020
Stomatin-deficient cryohydrocytosis with neurologic defects1Oct 12, 2020
Striatal degeneration, autosomal dominant 11Apr 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 Lubs type1Sep 23, 2021
Syndromic X-linked intellectual disability Najm type2Apr 20, 2020
Syndromic X-linked mental retardation, Cabezas type1Apr 20, 2020
Synpolydactyly 11Sep 29, 2021
TARP syndrome1Apr 20, 2020
Takenouchi-Kosaki syndrome1Oct 12, 2020
Talipes equinovarus2Nov 23, 2021
Tatton-Brown-rahman syndrome3Sep 23, 2021
Tay-Sachs disease1Oct 12, 2020
Tay-Sachs disease, variant AB1Apr 20, 2020
Telangiectasia, hereditary hemorrhagic, type 22Apr 20, 2020
Temple-Baraitser syndrome2Sep 23, 2021
Temtamy syndrome2Nov 23, 2021
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
Trichorhinophalangeal dysplasia type I1Jul 22, 2021
Tropical calcific pancreatitis1Oct 12, 2020
Troyer syndrome1Oct 8, 2020
Tuberous sclerosis 18Nov 23, 2021
Tuberous sclerosis 211Sep 29, 2021
Tumor susceptibility linked to germline BAP1 mutations4Oct 12, 2020
Turcot syndrome7Dec 28, 2021
Type II diabetes mellitus3Sep 29, 2021
Ullrich congenital muscular dystrophy 12Sep 23, 2021
Usher syndrome type 11Oct 12, 2020
Verheij syndrome3Sep 23, 2021
Ververi-Brady syndrome34Dec 28, 2021
Very long chain acyl-CoA dehydrogenase deficiency1Oct 12, 2020
Vesicoureteral reflux 21Oct 4, 2021
Vissers-Bodmer syndrome1Sep 23, 2021
Vitelliform macular dystrophy type 22Nov 23, 2021
Waardenburg syndrome type 11Apr 20, 2020
Waardenburg syndrome type 2A2Oct 12, 2020
Waardenburg syndrome type 4C2Oct 12, 2020
Warburg micro syndrome 21Sep 23, 2021
Warburg micro syndrome 41Apr 20, 2020
Warts, hypogammaglobulinemia, infections, and myelokathexis1Apr 20, 2020
Weaver syndrome4Sep 23, 2021
Weiss-kruszka syndrome2Dec 28, 2021
Werner syndrome3Sep 29, 2021
White-sutton syndrome3Oct 12, 2020
Wide mouth1Dec 28, 2021
Wieacker-Wolff syndrome1Oct 12, 2020
Wiedemann-Steiner syndrome4Sep 23, 2021
Wilson disease2Oct 12, 2020
Wiskott-Aldrich syndrome2Sep 23, 2021
Wolfram syndrome 11Oct 12, 2020
Wolfram-like syndrome, autosomal dominant1Apr 20, 2020
Worth disease1Sep 23, 2021
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 syndrome4Sep 23, 2021
Zonular pulverulent cataract 31Apr 20, 2020
beta Thalassemia1Sep 23, 2021
not provided6Jan 27, 2021
recessive ARS-related multisystem disease1Oct 8, 2020
vitelliform macular dystrophy 31Dec 28, 2021
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