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Kasturba Medical College, Manipal (Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India), KMC-MAHE

General information

Kasturba Medical College, Manipal, KMC-MAHE
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
Madhav Nagar
Manipal
Karnataka
India - 576104
http://www.manipal.edu
Organization ID: 505991

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1239

Gene

GeneSubmissionsLast Updated
ABCA122Jun 28, 2023
ABCB112Oct 1, 2024
ABCC62Mar 5, 2025
ABCC83Jan 4, 2022
ABCD11Apr 6, 2024
ACAN2May 10, 2022
ACAT13Jan 4, 2022
ACSF32Jun 22, 2022
ACSL41Jan 4, 2022
ACTA11Aug 29, 2024
ACVR11May 7, 2025
ADA22Jun 28, 2022
ADAMTS132Aug 9, 2022
ADAMTSL21Jul 22, 2023
ADCY51Aug 17, 2021
ADGRG11Oct 20, 2021
ADGRG61Feb 26, 2022
ADGRV11Jun 4, 2018
ADPRS1Mar 9, 2023
AFF21Jan 4, 2022
AFG2A1Jan 4, 2022
AGL2Jan 4, 2022
AGO11Mar 1, 2023
AGRN2Jan 4, 2022
AGTPBP11Aug 29, 2023
AGXT1Jan 13, 2024
AHDC11Apr 5, 2024
AHI11Aug 31, 2024
AHR1Nov 23, 2024
AIMP22Jan 4, 2022
AKT31Jan 30, 2023
ALDH7A13Aug 13, 2022
ALG111Nov 7, 2022
ALG121Jul 29, 2022
ALOX12B1Jul 22, 2023
ALPL1Oct 30, 2023
ALS21Jun 29, 2024
AMPD21Jan 4, 2022
ANK11Jul 27, 2022
ANKRD113Mar 15, 2024
ANKRD171Jan 4, 2022
ANKS61Oct 15, 2024
ANTXR21Jan 4, 2022
AP3B21May 6, 2021
AP4B11Jan 4, 2022
AP4B1-AS11Jan 4, 2022
AP4S11Jan 31, 2021
APC1Jul 10, 2024
ARG13May 21, 2024
ARID1B1Jan 31, 2021
ARSA7Jan 4, 2022
ARSB1Sep 5, 2022
ARV11Mar 1, 2024
ARX1Mar 30, 2022
ASCC11Sep 13, 2024
ASNS4Jan 4, 2022
ASPA2Feb 25, 2022
ASPM1Jan 4, 2022
ASS12Aug 10, 2024
ASXL11Nov 17, 2022
ASXL31Jun 27, 2023
ATM11Jan 23, 2025
ATP13A21Aug 10, 2024
ATP7A3Sep 7, 2024
ATP7B3Jun 14, 2023
ATRIP2May 9, 2025
ATRIP-TREX12May 9, 2025
ATRX2Jan 30, 2023
AUH2Jan 4, 2022
AUTS21Jul 21, 2023
AVP1Feb 19, 2025
B3GALNT21Jan 4, 2022
B9D21Aug 7, 2019
BBS11Aug 31, 2024
BBS101Jan 4, 2022
BBS21Jul 4, 2024
BCKDHA1Mar 16, 2022
BCL11A1Jun 27, 2023
BCL11B4Apr 16, 2024
BCL2L2-PABPN11Jan 4, 2022
BCORL11Jan 4, 2022
BLK1Sep 23, 2024
BMPER1May 10, 2022
BMPR1B2Jun 9, 2023
BMPR21Apr 5, 2024
BNIP11Mar 12, 2021
BRAF2Jan 30, 2023
BRAT12Sep 10, 2022
BRCA14Jan 4, 2025
BRCA21Jan 4, 2022
BRWD31Jan 30, 2023
BTD5Jul 22, 2024
C11orf655Jan 23, 2025
C14orf391Apr 9, 2025
C17orf1071Aug 7, 2023
C19orf122Aug 16, 2022
C1QA2Aug 30, 2023
CACNA1A2Jan 9, 2023
CACNA1G1Jan 6, 2022
CACNA1S1Jan 4, 2022
CANT11Mar 10, 2022
CAPN37Dec 23, 2024
CARMIL21Jul 12, 2021
CASK1Jun 27, 2023
CASR1Dec 23, 2024
CC2D2A3Jan 30, 2023
CCN62May 6, 2025
CD40LG1Dec 14, 2021
CD79A1Mar 27, 2021
CDKL51Dec 14, 2021
CEP2903Aug 28, 2019
CEP551Sep 13, 2024
CFAP962May 9, 2025
CFI1Feb 28, 2025
CFTR5Aug 30, 2023
CFTR-AS11Jan 4, 2022
CHAT1Jan 3, 2025
CHD73Oct 24, 2024
CHD81Feb 9, 2024
CHEK21Oct 3, 2024
CHPT11May 10, 2022
CHRNA11Sep 13, 2024
CHRNE1Aug 7, 2023
CHST141May 27, 2025
CHST38Mar 12, 2024
CKAP2L1Mar 7, 2025
CLCN12Oct 8, 2024
CLCN72Dec 9, 2023
CLCNKB2Mar 4, 2025
CLN62Aug 16, 2021
CLPP2Jan 24, 2025
COASY1Sep 13, 2024
COG81Jan 30, 2023
COL10A15Sep 8, 2022
COL18A11Jan 4, 2022
COL1A110Dec 11, 2024
COL1A23Apr 21, 2025
COL27A12Oct 20, 2019
COL2A110Nov 6, 2023
COL4A33Jul 4, 2024
COL4A43Jun 6, 2025
COL4A52Feb 16, 2023
COL5A21Jan 30, 2023
COL6A11Jul 1, 2024
COL6A23Oct 24, 2024
COL6A31Jan 4, 2022
COL7A14Apr 2, 2025
COMP12Dec 28, 2023
COPA1Jul 21, 2022
CPEB1-AS11May 6, 2021
CPLANE12Jan 4, 2022
CPS11Aug 29, 2024
CREBBP5Oct 23, 2024
CRPPA1Jan 4, 2022
CTNNA21Dec 16, 2024
CTNNB11Mar 29, 2022
CTSK4Jan 4, 2022
CYB5R31Feb 21, 2023
CYFIP21May 6, 2021
CYP11A11Dec 15, 2021
CYP11B11Jul 27, 2022
CYP27A14Dec 23, 2024
CYP27B12Jan 14, 2022
CYP2R11Jan 4, 2022
CYP2U12Feb 21, 2023
CYP2U1-AS11Dec 14, 2021
CZ1P-ASNS4Jan 4, 2022
DAP32Jan 14, 2025
DARS22Oct 18, 2021
DCX1Jan 30, 2023
DDHD21Mar 26, 2025
DDX3X1Sep 17, 2024
DEAF11May 5, 2025
DEGS11Apr 28, 2022
DGAT11Feb 1, 2022
DKC12Mar 14, 2022
DLG42Jul 27, 2023
DLL31Jan 4, 2022
DMD6Aug 6, 2024
DMXL21Oct 15, 2023
DNAH51Oct 11, 2022
DNASE1L31Jul 14, 2022
DNASE21Aug 30, 2023
DNM11Sep 24, 2022
DNMBP1Aug 20, 2024
DNMBP-AS11Aug 20, 2024
DOCK71Jan 29, 2022
DOCK81Dec 14, 2021
DOK72Jan 4, 2022
DPAGT11Mar 27, 2025
DSTYK1May 27, 2025
DUOX22Nov 22, 2024
DYM3Sep 8, 2022
DYNC1H11May 6, 2021
DYNC2H12Jan 4, 2022
DYRK1A1May 6, 2021
DYSF3Mar 29, 2025
EBP2May 10, 2022
ECEL12Jan 2, 2025
ECHS11Oct 15, 2023
EDN31Jun 1, 2018
EDNRB4Apr 7, 2021
EDNRB-AS12Apr 7, 2021
EFEMP21Sep 20, 2024
EFTUD21Jan 30, 2023
EIF2AK31Jan 4, 2022
EIF2AK3-AS11Jan 4, 2022
EIF2B12Jan 4, 2022
EIF2B31Dec 2, 2023
EIF2B41Feb 11, 2021
EIF2B52Jan 4, 2022
ELANE1Mar 14, 2022
ERCC31Mar 9, 2024
ERCC61Jan 14, 2022
ERCC82Jan 30, 2023
ESCO21Jan 4, 2022
ETFA1Oct 1, 2024
ETHE11Dec 5, 2022
EVC1Jan 4, 2022
EVC23May 10, 2022
EXOC21Apr 23, 2025
EXOC6B1Aug 22, 2022
EXT13Jul 27, 2024
EYS1Oct 31, 2022
F51Jan 1, 2025
FAM149B11Apr 23, 2024
FANCA2Jun 6, 2024
FANCL3May 9, 2025
FAS1Oct 3, 2023
FAT41Dec 26, 2024
FBN127May 3, 2025
FBN21Jan 30, 2023
FBP11Jan 4, 2022
FBXW71Mar 29, 2025
FERMT11Mar 22, 2023
FGA1Jan 9, 2025
FGF122Sep 22, 2023
FGF131Jul 24, 2021
FGF232Dec 28, 2023
FGFR11Aug 30, 2023
FGFR22Mar 13, 2024
FGFR310May 17, 2023
FKBP101Jan 8, 2025
FKTN1Jan 4, 2022
FLNA1Jan 4, 2022
FLNB9Dec 23, 2024
FLNB-AS11Dec 23, 2024
FLNC1Jan 21, 2022
FOXG14Feb 14, 2025
FRAS11Jan 4, 2022
FUCA11May 6, 2021
G6PC32May 9, 2022
G6PD1May 9, 2025
GABRA21May 21, 2024
GABRG21Mar 1, 2023
GALC8Sep 13, 2023
GALNS12Aug 26, 2022
GALNT21May 6, 2021
GALT2Sep 10, 2022
GATAD2B2Aug 1, 2022
GBA14Dec 13, 2023
GBE14Jan 4, 2022
GCDH4Apr 19, 2022
GCH11Jul 11, 2022
GCSH1Jan 4, 2022
GEMIN51Jul 14, 2022
GFAP3Jul 22, 2024
GH-LCR1Jan 21, 2025
GHR3Jul 9, 2024
GJB22Jun 12, 2025
GJC24Sep 7, 2024
GLA1Jan 4, 2022
GLB110Aug 5, 2023
GLI31May 10, 2022
GLIS31Mar 29, 2025
GMPPB2Oct 24, 2024
GNAS2Jun 3, 2022
GNE2Aug 5, 2023
GNPNAT11Aug 13, 2024
GNPTAB5May 9, 2025
GNPTG1Sep 29, 2023
GPC41Jun 26, 2024
GPHN1Jan 4, 2022
GPIHBP11Jun 24, 2024
GPNMB1Aug 30, 2023
GPX41Jan 4, 2022
GRIN2A1Oct 15, 2023
GRIN2B2Sep 7, 2024
GTF3C2-AS21Feb 11, 2021
GUSB1Jan 3, 2025
H1-41Jan 1, 2025
H4C31Jan 14, 2025
HACE11Dec 3, 2021
HBB4Apr 3, 2025
HECTD41Feb 4, 2025
HEXA6Jul 18, 2024
HEXB2Jan 4, 2022
HGD1Aug 30, 2023
HHAT1Mar 27, 2021
HIBCH1Jan 4, 2022
HIVEP21Oct 1, 2021
HJV1May 27, 2022
HK13Apr 9, 2024
HMBS1Oct 24, 2024
HMGCL1Jan 4, 2022
HNRNPH22Aug 14, 2023
HOXA11Jan 4, 2022
HOXD131Jan 4, 2022
HPGD2Jan 4, 2022
HPRT11Jul 27, 2023
HS2ST11Mar 22, 2024
HSD17B42Jan 15, 2025
HSPG21Mar 15, 2024
HTRA11Jan 4, 2022
HYDIN1Jan 4, 2022
IDH12May 10, 2022
IDS7Jan 30, 2023
IDUA4Jan 10, 2025
IFITM52Jan 6, 2025
IFT521Jan 4, 2022
IFT811Feb 4, 2022
IHH1Jan 4, 2022
IL12RB11Nov 13, 2021
IL1RN1Apr 16, 2024
IL21R1Jan 4, 2022
IL2RG1Jan 4, 2022
IL36RN1Apr 9, 2025
INS1Jan 3, 2025
INS-IGF21Jan 3, 2025
INVS2Jan 4, 2022
IQCB12Mar 29, 2025
IRAK41Aug 30, 2023
ISCA12Oct 4, 2021
ITGA31Oct 3, 2024
ITPA1Oct 10, 2023
IVD1Mar 29, 2025
KANSL11Apr 7, 2025
KCNJ101May 6, 2021
KCNJ111Aug 8, 2024
KCNJ21Mar 13, 2024
KCNK181Jan 9, 2023
KCNQ23Oct 15, 2023
KCNT13Oct 15, 2023
KCTD74Oct 15, 2023
KDM5C3Oct 3, 2024
KDM6B1Jan 30, 2023
KIF111Mar 10, 2025
KIF1A1May 19, 2025
KIF26A1Jun 23, 2017
KLHL71Jul 6, 2017
KMT2A3Jun 27, 2023
KMT2B1Jul 18, 2023
KMT2D2Apr 23, 2025
KRAS1Jun 28, 2022
KRT141Jun 26, 2024
KRT6A1Sep 11, 2024
L1CAM1Feb 11, 2021
L2HGDH1Oct 7, 2021
LACC12May 23, 2022
LAMA25Jan 4, 2022
LAMA31May 23, 2022
LAMB31Jan 4, 2022
LAMC22May 25, 2022
LCAT1Jan 17, 2025
LDLR1Jul 30, 2024
LEMD31May 23, 2022
LIPA1Jan 4, 2022
LMNA2Dec 26, 2024
LMOD31Jan 30, 2023
LMX1B1Jan 4, 2022
LOC1005073463Dec 11, 2024
LOC1019285252May 27, 2025
LOC1027240582Jan 4, 2022
LOC1060501021Jan 30, 2023
LOC1060990624Apr 3, 2025
LOC1065017131Mar 4, 2025
LOC1066279814Dec 13, 2023
LOC1067998331Jul 27, 2022
LOC1071335104Apr 3, 2025
LOC1116744721Jan 4, 2022
LOC1139399441Jan 4, 2022
LOC1171255881Aug 30, 2023
LOC1171255941Jan 4, 2022
LOC1230381851Jul 22, 2023
LOC1268058221Jan 4, 2022
LOC1268066591Mar 29, 2022
LOC1268612422Jan 4, 2022
LOC1268613181Aug 2, 2024
LOC1268613601Mar 27, 2025
LOC1268616641Jan 4, 2022
LOC1268618982Aug 20, 2024
LOC1268624471May 10, 2022
LOC1268624791Jul 27, 2023
LOC1268625861Dec 11, 2024
LOC1268629831Jun 20, 2017
LOC1299364342Jan 4, 2022
LOC1299925851May 23, 2022
LOC1299931101Jan 4, 2022
LOC1299965171Mar 21, 2022
LOC1300095851Aug 29, 2024
LOC1300554971Aug 30, 2023
LOC1300562171Apr 21, 2022
LOC1300593041Jan 30, 2023
LOC1300594951Jan 4, 2022
LOC1300597621May 10, 2022
LOC1300598911Mar 13, 2025
LOC1300609591May 9, 2022
LOC1300641901Aug 3, 2024
LOC1300653451Feb 1, 2025
LOC1300678621Jan 4, 2022
LONP12Jan 4, 2022
LPAR62Mar 26, 2025
LPL3Aug 9, 2024
LRBA3Aug 29, 2024
LRP51Jan 2, 2025
LRRC451Jan 4, 2025
LRRK12May 10, 2022
LRRK1-AS12May 10, 2022
LRSAM11Feb 5, 2024
LYRM71Sep 11, 2023
MAGEL21Nov 18, 2024
MAN1B12Oct 16, 2024
MAP2K11Sep 22, 2023
MAP3K71Feb 12, 2022
MAPKBP11Apr 24, 2025
MBOAT71Oct 15, 2023
MC4R1Jan 1, 2025
MCOLN12Nov 17, 2024
MECP25May 16, 2025
MED121Jan 4, 2022
MED13L1Oct 8, 2024
MED233May 21, 2024
MEF2C2Jul 29, 2024
MEFV1Jan 4, 2022
MEGF81Sep 4, 2024
MEIS21Aug 9, 2022
MFF-DT3Jul 4, 2024
MFN22Aug 4, 2023
MFSD82Jul 21, 2022
MGME11Jun 20, 2017
MINK11Aug 7, 2023
MINPP11Feb 21, 2022
MIR12871May 9, 2025
MITF4May 23, 2018
MLC12Jan 4, 2022
MMAA1Aug 16, 2022
MMAB2Jan 5, 2024
MMACHC1Apr 17, 2024
MMADHC1Jan 4, 2022
MMP131Aug 2, 2024
MMP26Feb 22, 2022
MOCS21Oct 4, 2024
MPDU11Jan 31, 2021
MPLKIP1Jan 4, 2022
MRPS22May 27, 2025
MSH21Jun 22, 2022
MSTO12Apr 19, 2022
MT-ND41Jul 8, 2021
MTHFR4May 23, 2022
MTM11Apr 28, 2025
MTSS21Mar 27, 2025
MTTP1Oct 1, 2024
MVK2Jul 14, 2022
MVP-DT1Oct 15, 2023
MYH34Oct 15, 2024
MYH72Aug 20, 2024
MYO5A1Sep 2, 2022
MYO7A1May 6, 2025
MYO9A2May 28, 2025
MYOD11May 20, 2019
MYPN1Feb 27, 2023
NAGLU3May 10, 2022
NALCN1May 28, 2025
NANS1Feb 14, 2022
NAV31Dec 13, 2024
NAXD1Jan 4, 2022
NAXE1Dec 14, 2021
NBAS1May 28, 2022
NCF21Feb 28, 2025
NCF41Jul 14, 2022
NDUFAF21Jan 3, 2025
NDUFV14Jan 4, 2022
NDUFV21Jan 4, 2022
NDUFV2-AS11Jan 4, 2022
NEB1Oct 3, 2024
NECTIN41Mar 7, 2025
NEK13Oct 24, 2024
NEU12Jan 4, 2022
NEXMIF1Oct 26, 2022
NF14Sep 4, 2024
NFATC21Mar 27, 2025
NFIX1Sep 6, 2022
NFKBIA1Aug 30, 2023
NIPBL3Sep 17, 2024
NKX6-21Aug 12, 2022
NLRP121Aug 30, 2023
NOD22Aug 30, 2023
NOG1Jul 22, 2023
NOTCH11Jul 27, 2022
NPC21Jan 4, 2022
NPHP11Jan 4, 2022
NPHS11Dec 22, 2023
NPR25Sep 6, 2022
NR5A11Jan 4, 2022
NRXN11Nov 18, 2024
NSD12Oct 23, 2024
NT5DC15Sep 8, 2022
NUP2141Jan 4, 2022
OBSL13May 10, 2022
OCA24Aug 8, 2023
OCLN1May 6, 2021
ODAD11Jun 29, 2024
OFD12Aug 30, 2023
OPA31Mar 27, 2021
OPHN11Aug 2, 2024
OTOG1Feb 21, 2024
OTX21Jan 4, 2022
P3H12Jun 9, 2023
P3H21Jan 4, 2022
PABPN11Jan 4, 2022
PACS11Mar 28, 2023
PAH1Jan 4, 2022
PANK23Feb 1, 2025
PAPSS23May 10, 2022
PAX21Jan 23, 2025
PAX35Apr 7, 2021
PAX61Mar 27, 2021
PCCA2Jan 4, 2022
PCCB1Jul 30, 2024
PCDH121May 5, 2021
PCNT1Jan 4, 2022
PDE3B1Jan 4, 2022
PDHA11Oct 20, 2021
PDHX1Oct 16, 2024
PEPD1Dec 14, 2021
PERCC11May 11, 2024
PEX161Sep 14, 2023
PEX261Jan 6, 2022
PEX31May 6, 2021
PEX61Jan 30, 2023
PGAP31Jan 4, 2022
PGGHG1Jan 4, 2022
PHC11Jan 4, 2022
PHEX10Feb 3, 2025
PHEX-AS11Jan 14, 2022
PHKA21Aug 8, 2024
PHKG22Jan 4, 2022
PIBF12Jan 4, 2022
PIDD13Feb 28, 2025
PIEZO21Jan 4, 2022
PIGH1Jan 4, 2022
PISD1Jan 4, 2022
PKD15Jun 5, 2025
PKD1-AS11May 11, 2024
PLA2G61Mar 14, 2022
PLAA1Feb 28, 2025
PLEC2May 25, 2022
PLP12Sep 7, 2024
PMM21Aug 31, 2024
PMS22Jan 1, 2025
PMVK1Mar 24, 2024
PNKP1Feb 22, 2022
PNPLA81Jan 4, 2022
PNPT11Jan 31, 2021
POLR1C3Mar 21, 2022
POLR2F3May 5, 2021
POLR3A2Jan 31, 2021
POMGNT12Mar 30, 2022
POMT23Oct 16, 2024
POP11Jan 4, 2022
POR1May 10, 2022
POU4F31Dec 7, 2023
PPT11Jan 4, 2022
PRDM121Jan 4, 2022
PRDM51Nov 4, 2023
PRG47Aug 30, 2023
PRKACA1May 10, 2022
PRMT71Jan 4, 2022
PRRT21Oct 15, 2023
PSAP3May 24, 2025
PSTPIP12Jan 30, 2024
PTCH13Dec 11, 2024
PTCHD1-AS3Feb 3, 2025
PTDSS11Jan 4, 2022
PTEN1Jun 6, 2023
PTH1R2May 17, 2019
PTH2R1Mar 27, 2017
PTPN111Oct 30, 2023
PUM11Mar 4, 2023
PURA1Aug 6, 2020
PYCR11Oct 3, 2024
PYGL1Mar 7, 2025
PYGM2Jan 4, 2022
PYROXD21May 9, 2025
QRICH11Aug 10, 2021
RAB181Jan 4, 2022
RAB27A1Feb 7, 2024
RAB33B3May 10, 2022
RAB3GAP11Oct 15, 2023
RAB9B2Sep 7, 2024
RAG11Feb 2, 2025
RAPSN1Jan 4, 2022
RARS21Oct 20, 2021
RB13Mar 26, 2025
RBM27-POU4F31Dec 7, 2023
RERE1Mar 7, 2025
RET1Jan 4, 2022
RETREG11Feb 14, 2024
RIT11Jan 30, 2023
RMP641May 10, 2022
RNASEH2C2Jan 3, 2025
RNF141May 5, 2021
RNF2161Mar 10, 2022
RNF431May 17, 2023
RPIA1Jan 4, 2022
RPL131Oct 29, 2021
RPL36A-HNRNPH23Aug 14, 2023
RPL3L1May 21, 2025
RPS6KA31Jan 4, 2022
RSPO21Jan 4, 2022
RSPRY11Dec 18, 2023
RTTN1Jul 9, 2021
RUNX21Jul 19, 2023
RYR11Oct 24, 2024
SACS1Aug 2, 2021
SAMHD11Jan 4, 2022
SCN1A3Jan 17, 2022
SCN2A3Jan 30, 2023
SCN4A1Jan 21, 2025
SCN9A1Jun 5, 2025
SCO21Jan 4, 2022
SCUBE31May 10, 2022
SCYL12Mar 26, 2025
SCYL21May 27, 2025
SDHB3Dec 11, 2024
SERAC11May 29, 2024
SERPINF15Mar 13, 2025
SETBP12Aug 20, 2024
SETD1B1Nov 9, 2022
SETD51Jan 30, 2023
SFRP41Jan 4, 2022
SFTPC1Aug 16, 2022
SGCB3Apr 1, 2025
SGMS21Dec 14, 2021
SH2B31Feb 6, 2023
SHMT21May 6, 2021
SIX61Apr 9, 2025
SKI1Jan 4, 2022
SKIC31Jan 4, 2022
SLC12A32May 5, 2025
SLC12A41Jan 17, 2025
SLC13A52Jul 30, 2024
SLC19A34Oct 24, 2024
SLC1A41Jan 10, 2024
SLC22A51Aug 20, 2024
SLC25A121Jun 23, 2022
SLC26A21Jan 23, 2025
SLC29A31Jun 28, 2022
SLC2A21Dec 20, 2022
SLC34A31Jan 4, 2022
SLC37A42Aug 27, 2024
SLC4A12Dec 16, 2024
SLC5A21Sep 28, 2023
SLCO2A13Jul 22, 2023
SMARCA21Jun 30, 2021
SMARCA41Jun 7, 2022
SMARCD11Sep 11, 2021
SMPD13Jun 22, 2024
SNAP291Jan 4, 2022
SNHG311Jul 2, 2022
SNX101Apr 28, 2022
SNX141Nov 14, 2016
SOS11Jul 22, 2024
SOX103May 5, 2021
SOX111Jan 4, 2022
SPAG81Jan 4, 2022
SPAST1Jul 1, 2024
SPATA222Feb 25, 2022
SPG112Nov 4, 2023
SPINK53Sep 27, 2024
SPR1Jan 4, 2022
SPTB1Jan 4, 2022
SQSTM11Sep 10, 2022
SRCAP2Jul 27, 2022
STAT32Jan 4, 2022
STRA61Apr 15, 2021
STXBP13Oct 15, 2023
STXBP21Aug 30, 2023
SUCLA22May 1, 2022
SUOX1Mar 22, 2022
SURF15Aug 16, 2024
TAF1A1Jul 1, 2022
TAMM411Mar 27, 2025
TBC1D241Jul 10, 2024
TBCD1Jan 4, 2022
TBCK2Jul 31, 2021
TBXAS11Jul 14, 2022
TCF121Aug 10, 2021
TCF41Oct 15, 2023
TCIRG12Jun 3, 2022
TCN21Jan 4, 2022
TCOF12Nov 2, 2023
TF2Aug 6, 2022
TGFB11May 23, 2022
TGFBR12Jan 4, 2022
TGFBR25Jan 17, 2025
THOC61Jan 4, 2022
TJP21Aug 17, 2021
TMEM1471Apr 15, 2025
TMEM1631Sep 11, 2023
TMEM2161Jan 31, 2025
TMEM672Jan 4, 2022
TMEM941Jan 4, 2022
TMPPE2Jan 4, 2022
TNFAIP31Aug 30, 2023
TNFRSF11A1Jun 30, 2023
TNFRSF1A1Jan 21, 2022
TOMM71Dec 23, 2024
TONSL6May 10, 2022
TONSL-AS11Jan 4, 2022
TP531Mar 29, 2025
TPCN21Jan 4, 2022
TPK11May 5, 2021
TPO1Sep 13, 2023
TPP14Oct 15, 2023
TPRKB1Feb 5, 2024
TRAPPC123May 10, 2022
TRAPPC12-AS11May 7, 2021
TRAPPC22Aug 30, 2023
TRAPPC2L1May 10, 2022
TRAPPC42Jun 16, 2021
TRAPPC6B1Jul 27, 2024
TRAPPC91May 10, 2022
TREX12May 9, 2025
TRIM141Feb 14, 2022
TRIP112Jun 6, 2023
TRIP41Dec 11, 2024
TRMT10A1Jan 4, 2022
TRPM61Apr 3, 2023
TRPS11Dec 30, 2023
TRPV44May 17, 2023
TRRAP1Sep 30, 2022
TSC23Aug 16, 2024
TSPAN12Mar 30, 2022
TSPAN71Mar 6, 2025
TTC82May 27, 2022
TUBA1A2May 14, 2025
TUBB31Jan 4, 2022
TUBB4A2Sep 5, 2024
TUBG11Jan 30, 2023
TXNDC151Aug 7, 2019
TYMP1Jan 4, 2022
TYR1Jun 4, 2018
UBA21Aug 3, 2024
UFM11Aug 29, 2024
UFSP22May 9, 2025
UGDH1Jan 31, 2021
UGT1A1Sep 3, 2024
UGT1A11Sep 3, 2024
UGT1A101Sep 3, 2024
UGT1A31Sep 3, 2024
UGT1A41Sep 3, 2024
UGT1A51Sep 3, 2024
UGT1A61Sep 3, 2024
UGT1A71Sep 3, 2024
UGT1A81Sep 3, 2024
UGT1A91Sep 3, 2024
UNC13D1Apr 2, 2025
USH1C1Jan 3, 2025
UTP14C1Nov 7, 2022
VAC141Jan 4, 2022
VARS12Feb 11, 2021
VCP1Jan 4, 2022
VDR2Jan 2, 2025
VPS13A1Oct 25, 2024
VPS13B2Aug 6, 2024
VPS33B1Jan 4, 2022
VPS511Jul 29, 2022
VPS531Jul 29, 2022
VRK11Mar 7, 2025
VRK22May 9, 2025
WAS1Nov 15, 2021
WASF11Jan 30, 2023
WDR11Jan 21, 2022
WDR452Jan 8, 2025
WDR621Jan 28, 2022
WDR721Mar 12, 2022
WDR731Jul 22, 2024
WFS12Apr 7, 2025
WNT11Jan 4, 2022
WT11Aug 2, 2024
WWOX1Sep 10, 2022
XPA3Oct 25, 2024
XPC2Apr 23, 2025
XRCC41Nov 21, 2023
ZBTB183Jan 30, 2023
ZBTB241Feb 9, 2023
ZC4H21Sep 19, 2024
ZDHHC241Aug 31, 2024
ZMYM21Mar 4, 2025
ZMYND101Jan 4, 2022

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 31Mar 27, 2021
3-hydroxyisobutyryl-CoA hydrolase deficiency1Jan 4, 2022
3-methylglutaconic aciduria type 12Jan 4, 2022
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1May 29, 2024
3M syndrome 23May 10, 2022
46,XY sex reversal 31Jan 4, 2022
ACCES syndrome1Aug 3, 2024
ACTA1-related congenital myopathy disorders1Aug 29, 2024
AGO1-related neurodevelopmental disorder1Mar 1, 2023
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Apr 5, 2024
ALG11-congenital disorder of glycosylation1Nov 7, 2022
ALG12-congenital disorder of glycosylation1Jul 29, 2022
ALS2-related disorder1Jun 29, 2024
Abetalipoproteinaemia1Oct 1, 2024
Achondrogenesis type II2May 10, 2022
Achondrogenesis, type IA1Feb 4, 2022
Achondroplasia6Sep 5, 2022
Acid sphingomyelinase deficiency1Jul 29, 2022
Acrodermatitis continua suppurativa of Hallopeau1Apr 9, 2025
Acromesomelic dysplasia 1, Maroteaux type5Sep 6, 2022
Acromesomelic dysplasia 32Jun 9, 2023
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome2Mar 26, 2025
Acute intermittent porphyria1Oct 24, 2024
Acute myeloid leukemia1Jan 4, 2022
Adams-Oliver syndrome 51Jul 27, 2022
Adrenoleukodystrophy1Apr 6, 2024
Agammaglobulinemia 3, autosomal recessive1Mar 27, 2021
Aicardi-Goutieres syndrome 12May 9, 2025
Aicardi-Goutieres syndrome 32Jan 3, 2025
Aicardi-Goutieres syndrome 51Jan 4, 2022
Alexander disease3Jul 22, 2024
Alkaptonuria1Aug 30, 2023
Alport syndrome 3b, autosomal recessive3Jul 4, 2024
Amyloidosis, primary localized cutaneous, 31Aug 30, 2023
Anauxetic dysplasia 21Jan 4, 2022
Anauxetic dysplasia 31May 10, 2022
Andersen Tawil syndrome1Mar 13, 2024
Angelman syndrome1Jan 4, 2022
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1May 10, 2022
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1Mar 13, 2024
Arginase deficiency3May 21, 2024
Arthrogryposis multiplex congenita1May 20, 2019
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum1May 27, 2025
Arthrogryposis, distal, with impaired proprioception and touch1Jan 4, 2022
Arthrogryposis, renal dysfunction, and cholestasis 13Jan 4, 2022
Asphyxiating thoracic dystrophy 32Jan 4, 2022
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset1Apr 1, 2025
Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability1Aug 2, 2021
Ataxia-telangiectasia syndrome11Jan 23, 2025
Atransferrinemia2Aug 6, 2022
Autism spectrum disorder due to AUTS2 deficiency1Jul 21, 2023
Autoimmune interstitial lung disease-arthritis syndrome1Jul 21, 2022
Autoimmune lymphoproliferative syndrome type 11Oct 3, 2023
Autoimmune lymphoproliferative syndrome type 41Jun 28, 2022
Autoinflammatory syndrome, familial, Behcet-like 11Aug 30, 2023
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency1Aug 30, 2023
Autosomal dominant centronuclear myopathy1May 20, 2019
Autosomal dominant distal renal tubular acidosis1Oct 3, 2024
Autosomal dominant hypophosphatemic rickets1Dec 28, 2023
Autosomal dominant nonsyndromic hearing loss 151Dec 7, 2023
Autosomal recessive Alport syndrome2Jun 6, 2025
Autosomal recessive congenital ichthyosis 21Jul 22, 2023
Autosomal recessive congenital ichthyosis 4B2Jun 28, 2023
Autosomal recessive hypophosphatemic bone disease1Jan 4, 2022
Autosomal recessive inherited pseudoxanthoma elasticum2Mar 5, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2A7Dec 23, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2B2Jul 22, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2E3Apr 1, 2025
Autosomal recessive limb-girdle muscular dystrophy type 2N2Jan 4, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2T1Oct 24, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2U1Jan 4, 2022
Autosomal recessive nonsyndromic hearing loss 18B1Feb 21, 2024
Autosomal recessive nonsyndromic hearing loss 1A2Jun 12, 2025
Autosomal recessive nonsyndromic hearing loss 21May 6, 2025
Autosomal recessive osteopetrosis 12Jun 3, 2022
Autosomal recessive osteopetrosis 42Dec 9, 2023
Autosomal recessive osteopetrosis 71Jun 30, 2023
Autosomal recessive osteopetrosis 81Apr 28, 2022
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency2May 9, 2022
Autosomal recessive spastic paraplegia type 781Aug 10, 2024
Autosomal recessive spinocerebellar ataxia 201Nov 14, 2016
Autosomal systemic lupus erythematosus type 161Jul 14, 2022
BCL11B-related disorder1Apr 16, 2024
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 201Jan 1, 2025
Bardet-Biedl syndrome 11Aug 31, 2024
Bardet-Biedl syndrome 101Jan 4, 2022
Bardet-Biedl syndrome 21Jul 4, 2024
Bardet-Biedl syndrome 82May 27, 2022
Bartter disease type 32Mar 4, 2025
Basal cell nevus syndrome 11Dec 11, 2024
Beta-thalassemia major2Dec 14, 2021
Bethlem myopathy 1A3Jul 1, 2024
Bethlem myopathy 1B1Oct 24, 2024
Bilateral frontoparietal polymicrogyria1Oct 20, 2021
Biotin-responsive basal ganglia disease4Oct 24, 2024
Biotinidase deficiency5Jul 22, 2024
Blau syndrome2Aug 30, 2023
Blepharophimosis - intellectual disability syndrome, MKB type1Jan 4, 2022
Bohring-Opitz syndrome1Nov 17, 2022
Bone osteosarcoma1Oct 3, 2024
Brachydactyly type A1A1Jan 4, 2022
Breast-ovarian cancer, familial, susceptibility to, 11Jul 9, 2022
Brittle cornea syndrome 21Nov 4, 2023
C1Q deficiency2Aug 30, 2023
CARASIL syndrome1Jan 4, 2022
CEDNIK syndrome1Jan 4, 2022
CHARGE syndrome3Oct 24, 2024
CODAS syndrome2Jan 4, 2022
COG8-congenital disorder of glycosylation1Jan 30, 2023
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia1Dec 14, 2021
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome7Aug 30, 2023
Cardiac anomalies - developmental delay - facial dysmorphism syndrome1Oct 8, 2024
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Aug 9, 2022
Cardioacrofacial dysplasia 11May 10, 2022
Cardiofaciocutaneous syndrome 31Sep 22, 2023
Cardiomyopathy, dilated, 2D1May 21, 2025
Cardiospondylocarpofacial syndrome1Feb 12, 2022
Cataract 481Aug 20, 2024
Central core myopathy1Oct 24, 2024
Cerebellar ataxia-hypogonadism syndrome1Mar 10, 2022
Ceroid lipofuscinosis, neuronal, 6A2Aug 16, 2021
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1Jun 5, 2025
Charcot-Marie-Tooth disease axonal type 2P1Feb 5, 2024
Charcot-Marie-Tooth disease type 2A21Aug 4, 2023
Charcot-Marie-Tooth disease type 2Y1Jan 4, 2022
Charcot-Marie-Tooth disease type 4G2Apr 9, 2024
Charcot-Marie-Tooth disease type 4K1Aug 9, 2024
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1May 5, 2021
Cholestanol storage disease4Dec 23, 2024
Cholestasis, progressive familial intrahepatic, 41Aug 17, 2021
Chondrodysplasia punctata 2 X-linked dominant2May 10, 2022
Chondrodysplasia-pseudohermaphroditism syndrome1Mar 27, 2021
Chondrosarcoma1Dec 30, 2023
Chopra-Amiel-Gordon syndrome1Jan 4, 2022
Chorea-acanthocytosis1Oct 25, 2024
Chromosome 17q12 deletion syndrome1Apr 7, 2025
Chromosome 2p16.3 deletion syndrome1Nov 18, 2024
Citrullinemia type I2Aug 10, 2024
Cleidocranial dysostosis1Jul 19, 2023
Cobalamin C disease1Apr 17, 2024
Cockayne syndrome type 12Jan 30, 2023
Cockayne syndrome type 21Jan 14, 2022
Coffin-Lowry syndrome1Jan 4, 2022
Coffin-Siris syndrome 11Jan 31, 2021
Coffin-Siris syndrome 111Sep 11, 2021
Cohen syndrome2Aug 6, 2024
Coloboma, ocular, autosomal dominant1Mar 27, 2021
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome1Apr 9, 2025
Combined PSAP deficiency1Feb 8, 2024
Combined immunodeficiency due to DOCK8 deficiency1Dec 14, 2021
Combined immunodeficiency due to LRBA deficiency3Aug 29, 2024
Combined malonic and methylmalonic acidemia2Jun 22, 2022
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11Dec 11, 2024
Combined oxidative phosphorylation defect type 131Jan 31, 2021
Combined oxidative phosphorylation deficiency 362May 27, 2025
Combined oxidative phosphorylation deficiency 561Mar 27, 2025
Complex cortical dysplasia with other brain malformations 11Jan 4, 2022
Complex cortical dysplasia with other brain malformations 41Jan 30, 2023
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency1Dec 15, 2021
Congenital afibrinogenemia1Jan 9, 2025
Congenital anomalies of kidney and urinary tract 11May 27, 2025
Congenital contractural arachnodactyly1Jan 30, 2023
Congenital contractures of the limbs and face, hypotonia, and developmental delay1May 28, 2025
Congenital diarrhea 7 with exudative enteropathy1Feb 1, 2022
Congenital disorder of glycosylation, type iit1May 6, 2021
Congenital factor V deficiency1Jan 1, 2025
Congenital hyperammonemia, type I1Aug 29, 2024
Congenital insensitivity to pain-hypohidrosis syndrome1Jan 4, 2022
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome4Jan 4, 2022
Congenital myasthenic syndrome 101Jan 4, 2022
Congenital myasthenic syndrome 111Jan 4, 2022
Congenital myasthenic syndrome 4C1Aug 7, 2023
Congenital myasthenic syndrome 82Jan 4, 2022
Congenital myotonia, autosomal recessive form2Oct 8, 2024
Congenital nonspherocytic hemolytic anemia1May 9, 2025
Congenital sensorineural hearing impairment1May 23, 2018
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1Oct 6, 2022
Contractures, pterygia, and variable skeletal fusions syndrome 1B3Oct 15, 2024
Cornelia de Lange syndrome 13Sep 17, 2024
Cortical dysplasia, complex, with other brain malformations 91Dec 16, 2024
Cryptosporidiosis-chronic cholangitis-liver disease syndrome1Jan 4, 2022
Curry-Hall syndrome1Jan 31, 2021
Cutis laxa, X-linked1Aug 16, 2024
Cutis laxa, autosomal recessive, type 1B2Sep 20, 2024
Cyclical neutropenia1Mar 14, 2022
Cystic fibrosis5Aug 30, 2023
DAP3-related disorder1Jan 14, 2025
DPAGT1-congenital disorder of glycosylation1Mar 27, 2025
DYRK1A-related intellectual disability syndrome1May 6, 2021
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2Sep 10, 2022
Deficiency of acetyl-CoA acetyltransferase3Jan 4, 2022
Deficiency of cytochrome-b5 reductase1Feb 21, 2023
Deficiency of hydroxymethylglutaryl-CoA lyase1Jan 4, 2022
Deficiency of iodide peroxidase1Sep 13, 2023
Deficiency of ribose-5-phosphate isomerase1Jan 4, 2022
Deficiency of steroid 11-beta-monooxygenase1Jul 27, 2022
Dermatofibrosis lenticularis disseminata1May 23, 2022
Desbuquois dysplasia 11Mar 10, 2022
Developmental and epileptic encephalopathy1Sep 5, 2022
Developmental and epileptic encephalopathy 1061May 9, 2025
Developmental and epileptic encephalopathy 6B1Jan 17, 2022
Developmental and epileptic encephalopathy, 111Jan 30, 2023
Developmental and epileptic encephalopathy, 143Oct 15, 2023
Developmental and epileptic encephalopathy, 161Jul 10, 2024
Developmental and epileptic encephalopathy, 21Dec 14, 2021
Developmental and epileptic encephalopathy, 231Jan 29, 2022
Developmental and epileptic encephalopathy, 252Jul 30, 2024
Developmental and epileptic encephalopathy, 271Sep 7, 2024
Developmental and epileptic encephalopathy, 281Sep 10, 2022
Developmental and epileptic encephalopathy, 31A1Sep 24, 2022
Developmental and epileptic encephalopathy, 351Oct 10, 2023
Developmental and epileptic encephalopathy, 381Mar 1, 2024
Developmental and epileptic encephalopathy, 391Jun 23, 2022
Developmental and epileptic encephalopathy, 43Oct 15, 2023
Developmental and epileptic encephalopathy, 421Jan 9, 2023
Developmental and epileptic encephalopathy, 472Sep 22, 2023
Developmental and epileptic encephalopathy, 481May 6, 2021
Developmental and epileptic encephalopathy, 651May 6, 2021
Developmental and epileptic encephalopathy, 71Jan 4, 2022
Developmental and epileptic encephalopathy, 741Mar 1, 2023
Developmental and epileptic encephalopathy, 781May 21, 2024
Developmental and epileptic encephalopathy, 811Oct 15, 2023
Developmental and epileptic encephalopathy, 841Jan 31, 2021
Developmental and epileptic encephalopathy, 901Jul 24, 2021
Developmental delay with or without dysmorphic facies and autism1Sep 30, 2022
Developmental delay, hypotonia, and impaired language1Mar 29, 2025
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1Feb 16, 2022
Diabetes mellitus, permanent neonatal 41Jan 3, 2025
Diaphanospondylodysostosis1May 10, 2022
Diaphyseal dysplasia1May 23, 2022
Diarrhea 11, malabsorptive, congenital1May 11, 2024
Dias-Logan syndrome1Jun 27, 2023
Diencephalic-mesencephalic junction dysplasia syndrome 11May 5, 2021
Distal arthrogryposis type 5D2Jan 2, 2025
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Jan 4, 2022
Duchenne muscular dystrophy6Aug 6, 2024
Dyggve-Melchior-Clausen syndrome3Sep 8, 2022
Dyskeratosis congenita, X-linked2Mar 14, 2022
Dyskinesia with orofacial involvement, autosomal dominant1Aug 17, 2021
EAST syndrome1May 6, 2021
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome1Jan 4, 2022
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome3May 10, 2022
Ectodermal dysplasia and immunodeficiency 21Aug 30, 2023
Ectodermal dysplasia-syndactyly syndrome 11Mar 7, 2025
Ehlers-Danlos syndrome, classic type, 21Jan 30, 2023
Ehlers-Danlos syndrome, musculocontractural type 11May 27, 2025
Eiken syndrome2May 17, 2019
Ellis-van Creveld syndrome3May 10, 2022
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1Dec 26, 2024
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11Dec 14, 2021
Enchondromatosis2May 10, 2022
Epidermolysis bullosa pruriginosa2Aug 16, 2024
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive1Jun 26, 2024
Epidermolysis bullosa simplex 5C, with pyloric atresia1Jan 4, 2022
Epidermolysis bullosa simplex with nail dystrophy1May 25, 2022
Epidermolysis bullosa, junctional 2B, severe1May 23, 2022
Epidermolysis bullosa, junctional 3B, severe1May 25, 2022
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome1Oct 3, 2024
Episodic ataxia type 21Jan 4, 2022
Ethylmalonic encephalopathy1Dec 5, 2022
Exostoses, multiple, type 11Jul 27, 2024
FGFR2-related craniosynostosis1Aug 10, 2022
FRAXE1Jan 4, 2022
Fabry disease1Jan 4, 2022
Factor I deficiency1Feb 28, 2025
Familial Mediterranean fever, autosomal dominant1Jan 4, 2022
Familial X-linked hypophosphatemic vitamin D refractory rickets11Feb 3, 2025
Familial adenomatous polyposis 11Jul 10, 2024
Familial hemophagocytic lymphohistiocytosis 31Apr 2, 2025
Familial hemophagocytic lymphohistiocytosis 51Aug 30, 2023
Familial hypokalemia-hypomagnesemia2May 5, 2025
Familial infantile myasthenia1Jan 3, 2025
Familial medullary thyroid carcinoma1Jan 4, 2022
Familial myelofibrosis1Feb 6, 2023
Familial renal glucosuria1Sep 28, 2023
Fanconi anemia complementation group A3Jun 6, 2024
Fanconi anemia complementation group D11Jan 4, 2022
Fanconi anemia complementation group L2May 9, 2025
Fanconi anemia, complementation group S2Jan 4, 2025
Fanconi-Bickel syndrome1Dec 20, 2022
Fatal multiple mitochondrial dysfunctions syndrome1Jan 31, 2017
Filippi syndrome1Mar 7, 2025
Finnish congenital nephrotic syndrome1Dec 22, 2023
Floating-Harbor syndrome1Jul 27, 2022
Foveal hypoplasia 31Nov 23, 2024
Fraser syndrome 11Jan 4, 2022
Fructose-biphosphatase deficiency1Jan 4, 2022
Fucosidosis1May 6, 2021
GNE myopathy2Aug 5, 2023
GNPTG-mucolipidosis1Sep 29, 2023
GTP cyclohydrolase I deficiency with hyperphenylalaninemia1Jul 11, 2022
Galactosylceramide beta-galactosidase deficiency8Sep 13, 2023
Galloway-Mowat syndrome 11Jul 22, 2024
Galloway-Mowat syndrome 51Feb 5, 2024
Gaucher disease type I1Jan 4, 2022
Gaucher disease type II2Dec 13, 2023
Gaucher disease type III1Jun 24, 2023
Geleophysic dysplasia 11Jul 22, 2023
Geleophysic dysplasia 21Jan 4, 2022
Generalized epilepsy with febrile seizures plus, type 22Jan 4, 2022
Ghosal hematodiaphyseal dysplasia1Jul 14, 2022
Gilbert syndrome2Sep 3, 2024
Global developmental delay1Jan 14, 2025
Glucose-6-phosphate transport defect2Aug 27, 2024
Glutaric aciduria, type 13Jan 4, 2022
Glycine encephalopathy1Jan 4, 2022
Glycogen storage disease IXa11Aug 8, 2024
Glycogen storage disease IXc2Jan 4, 2022
Glycogen storage disease type III2Jan 4, 2022
Glycogen storage disease, type IV2Jan 4, 2022
Glycogen storage disease, type V2Jan 4, 2022
Glycogen storage disease, type VI1Mar 7, 2025
Glycosylphosphatidylinositol biosynthesis defect 171Jan 4, 2022
Gorlin syndrome2Jan 7, 2022
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 21Feb 28, 2025
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31Jul 14, 2022
Greig cephalopolysyndactyly syndrome1May 10, 2022
Griscelli syndrome type 11Sep 2, 2022
Griscelli syndrome type 21Feb 7, 2024
H syndrome1Jun 28, 2022
Hematuria, benign familial, 11Dec 23, 2024
Hemochromatosis type 2A1May 27, 2022
Hemoglobin E/beta- thalassemia2Apr 3, 2025
Hennekam lymphangiectasia-lymphedema syndrome 21Dec 26, 2024
Hereditary breast ovarian cancer syndrome1Dec 13, 2021
Hereditary spastic paraplegia1Jun 23, 2017
Hereditary spastic paraplegia 112Nov 4, 2023
Hereditary spastic paraplegia 21Jan 4, 2022
Hereditary spastic paraplegia 41Jul 1, 2024
Hereditary spastic paraplegia 431Jan 4, 2022
Hereditary spastic paraplegia 471Jan 4, 2022
Hereditary spastic paraplegia 521Jan 31, 2021
Hereditary spastic paraplegia 541Mar 26, 2025
Hereditary spastic paraplegia 562Feb 21, 2023
Hereditary spherocytosis type 11Jul 27, 2022
Hereditary spherocytosis type 21Jan 4, 2022
Heterotopia, periventricular, X-linked dominant1Jan 4, 2022
Homocystinuria due to methylene tetrahydrofolate reductase deficiency4May 23, 2022
Human HOXA1 syndromes1Jan 4, 2022
Hurler syndrome3Jan 10, 2025
Hutchinson-Gilford syndrome1Apr 13, 2024
Hyaline fibromatosis syndrome1Jan 4, 2022
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1Jan 4, 2022
Hyper-IgM syndrome type 11Dec 14, 2021
Hypercholesterolemia, familial, 11Jul 30, 2024
Hyperimmunoglobulin D with periodic fever2Jul 14, 2022
Hyperinsulinemic hypoglycemia, familial, 13Jan 4, 2022
Hyperinsulinemic hypoglycemia, familial, 21Aug 8, 2024
Hyperlipidemia, familial combined, LPL related1Aug 9, 2024
Hyperlipoproteinemia, type 1D1Jun 24, 2024
Hyperlipoproteinemia, type I2Mar 28, 2023
Hyperphosphatasia with intellectual disability syndrome 41Jan 4, 2022
Hypertrophic cardiomyopathy 12Aug 20, 2024
Hypertrophic cardiomyopathy 261Jan 21, 2022
Hypertrophic osteoarthropathy, primary, autosomal recessive, 12Jan 4, 2022
Hypertrophic osteoarthropathy, primary, autosomal recessive, 23Jul 22, 2023
Hypochondroplasia4May 17, 2023
Hypokalemic periodic paralysis, type 11Jan 4, 2022
Hypomyelinating leukodystrophy 113Mar 21, 2022
Hypomyelinating leukodystrophy 24Sep 7, 2024
Hypomyelinating leukodystrophy 62Sep 5, 2024
Hypophosphatemic rickets1Mar 12, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32Jul 31, 2021
Hypotrichosis 82Mar 26, 2025
Immunodeficiency 671Aug 30, 2023
Immunodeficiency-centromeric instability-facial anomalies syndrome 21Feb 9, 2023
Infantile GM1 gangliosidosis10Aug 5, 2023
Infantile convulsions and choreoathetosis1Oct 15, 2023
Infantile hypophosphatasia1Oct 30, 2023
Infantile nephronophthisis2Jan 4, 2022
Intellectual developmental disorder 622Jul 27, 2023
Intellectual developmental disorder with autism and macrocephaly1Feb 9, 2024
Intellectual developmental disorder with cardiac defects and dysmorphic facies1Jan 4, 2022
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism1Jan 4, 2022
Intellectual developmental disorder with ocular anomalies and distinctive facial features1Mar 27, 2025
Intellectual developmental disorder with seizures and language delay1Nov 9, 2022
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1Sep 5, 2024
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities3Dec 21, 2022
Intellectual developmental disorder, autosomal dominant 681Jul 18, 2023
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly3Feb 28, 2025
Intellectual disability, X-linked 1021Sep 17, 2024
Intellectual disability, X-linked 581Mar 6, 2025
Intellectual disability, X-linked 631Jan 4, 2022
Intellectual disability, X-linked 931Jan 30, 2023
Intellectual disability, X-linked, syndromic, Bain type2Aug 14, 2023
Intellectual disability, autosomal dominant 131May 6, 2021
Intellectual disability, autosomal dominant 161Jun 7, 2022
Intellectual disability, autosomal dominant 202Jul 29, 2024
Intellectual disability, autosomal dominant 223Jan 30, 2023
Intellectual disability, autosomal dominant 291May 5, 2021
Intellectual disability, autosomal dominant 431Oct 1, 2021
Intellectual disability, autosomal dominant 61Apr 13, 2024
Intellectual disability, autosomal dominant 91May 19, 2025
Intellectual disability, autosomal recessive 131May 10, 2022
Intellectual disability, autosomal recessive 571Oct 15, 2023
Intellectual disability-epilepsy-extrapyramidal syndrome1May 5, 2025
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Jan 30, 2023
Intellectual disability-hypotonic facies syndrome, X-linked, 12Jan 30, 2023
Intestinal hypomagnesemia 11Apr 3, 2023
Isovaleryl-CoA dehydrogenase deficiency1Mar 29, 2025
Joint contractures, osteochondromas, and B-cell lymphoma1Mar 27, 2025
Joubert syndrome1Jul 6, 2017
Joubert syndrome 171Jan 4, 2022
Joubert syndrome 21Jan 31, 2025
Joubert syndrome 31Aug 31, 2024
Joubert syndrome 331Jan 4, 2022
Joubert syndrome 361Apr 23, 2024
Joubert syndrome 61Jan 4, 2022
Joubert syndrome 91Jan 30, 2023
Junctional epidermolysis bullosa gravis of Herlitz1Jan 4, 2022
Junctional epidermolysis bullosa, non-Herlitz type1Jan 4, 2022
Juvenile arthritis due to defect in LACC12May 23, 2022
KBG syndrome3Mar 15, 2024
KCNK18-related neurodevelopmental disorder1Jan 9, 2023
KCNQ2-related disorder1Oct 15, 2023
Kabuki syndrome 12Apr 23, 2025
Keipert syndrome1Jun 26, 2024
Kindler syndrome1Mar 22, 2023
Kniest dysplasia2Jan 4, 2022
Knobloch syndrome1Jan 4, 2022
Koolen-de Vries syndrome1Apr 7, 2025
L-2-hydroxyglutaric aciduria1Oct 7, 2021
LRRC45 associated neurological ciliopathy1Jan 4, 2025
Landau-Kleffner syndrome1Oct 15, 2023
Laron-type isolated somatotropin defect3Jul 9, 2024
Larsen syndrome2Jan 22, 2022
Lazy leukocyte syndrome1Jan 21, 2022
Leber optic atrophy1Jul 8, 2021
Leigh syndrome1Jan 4, 2022
Lenz-Majewski hyperostosis syndrome1Jan 4, 2022
Lesch-Nyhan syndrome1Jul 27, 2023
Lethal congenital contracture syndrome 91Feb 26, 2022
Lethal multiple pterygium syndrome1Sep 13, 2024
Leukodystrophy, hypomyelinating, 141Aug 29, 2024
Leukodystrophy, hypomyelinating, 171Jan 4, 2022
Leukodystrophy, hypomyelinating, 181Apr 28, 2022
Leukodystrophy, hypomyelinating, 251Sep 11, 2023
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome2Oct 18, 2021
Leukoencephalopathy with vanishing white matter 31Dec 2, 2023
Li-Fraumeni syndrome 11Mar 29, 2025
Liberfarb syndrome1Jan 4, 2022
Lissencephaly due to TUBA1A mutation2May 14, 2025
Lissencephaly type 1 due to doublecortin gene mutation1Jan 30, 2023
Loeys-Dietz syndrome 12Jan 4, 2022
Loeys-Dietz syndrome 25Jan 17, 2025
Lymphatic malformation 31Jul 21, 2022
Lynch syndrome 41Sep 30, 2024
Lysosomal acid lipase deficiency1Jan 4, 2022
MASA syndrome1Feb 11, 2021
MEGF8-related Carpenter syndrome1Sep 4, 2024
MPDU1-congenital disorder of glycosylation1Jan 31, 2021
MYPN-related myopathy1Feb 27, 2023
Macrocephaly-autism syndrome1Jun 6, 2023
Maffucci syndrome1May 10, 2022
Mandibulofacial dysostosis-microcephaly syndrome1Jan 30, 2023
Maple syrup urine disease1Mar 16, 2022
Marfan syndrome19May 3, 2025
Marshall-Smith syndrome1Sep 6, 2022
Matthew-Wood syndrome1Apr 15, 2021
Maturity-onset diabetes of the young type 111Sep 23, 2024
Meckel syndrome, type 101Aug 7, 2019
Meckel syndrome, type 31Aug 29, 2019
Meckel syndrome, type 43Aug 28, 2019
Meckel syndrome, type 62Aug 29, 2019
Meckel-Gruber syndrome1Aug 7, 2019
Megalencephalic leukoencephalopathy with subcortical cysts 12Jan 4, 2022
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 21Jan 30, 2023
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency1Nov 13, 2021
Menkes kinky-hair syndrome3Sep 7, 2024
Merosin deficient congenital muscular dystrophy5Jan 4, 2022
Metachromatic leukodystrophy7Jan 4, 2022
Metaphyseal chondrodysplasia, Schmid type5Sep 8, 2022
Metatropic dysplasia2Jan 4, 2022
Methylmalonic aciduria and homocystinuria type cblD1Jan 4, 2022
Methylmalonic aciduria, cblA type1Aug 16, 2022
Methylmalonic aciduria, cblB type2Jan 5, 2024
Microcephalic osteodysplastic primordial dwarfism type II1Jan 4, 2022
Microcephalic primordial dwarfism due to RTTN deficiency1Jul 9, 2021
Microcephaly 11, primary, autosomal recessive1Jan 4, 2022
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations1Jan 28, 2022
Microcephaly 5, primary, autosomal recessive2Jul 21, 2022
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1Mar 10, 2025
Microcephaly, seizures, and developmental delay1Feb 22, 2022
Microcephaly, short stature, and impaired glucose metabolism 11Jan 4, 2022
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1Jan 4, 2022
Mismatch repair cancer syndrome 21Jun 22, 2022
Mismatch repair cancer syndrome 41Jan 1, 2025
Mitochondrial DNA depletion syndrome 11Jan 4, 2022
Mitochondrial DNA depletion syndrome 111Jun 20, 2017
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria2May 1, 2022
Mitochondrial complex 1 deficiency, nuclear type 101Jan 3, 2025
Mitochondrial complex 1 deficiency, nuclear type 43Jan 4, 2022
Mitochondrial complex 1 deficiency, nuclear type 71Jan 4, 2022
Mitochondrial complex 2 deficiency, nuclear type 42Apr 21, 2022
Mitochondrial complex I deficiency, nuclear type 11Jan 4, 2022
Mitochondrial complex III deficiency nuclear type 81Sep 11, 2023
Mitochondrial complex IV deficiency, nuclear type 13Aug 16, 2024
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome2Apr 19, 2022
Mitochondrial myopathy-lactic acidosis-deafness syndrome1Jan 4, 2022
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1Oct 15, 2023
Miyoshi muscular dystrophy 11Mar 29, 2025
Mucolipidosis type II3May 10, 2022
Mucolipidosis type IV2Nov 17, 2024
Mucopolysaccharidosis type 11Dec 31, 2024
Mucopolysaccharidosis type 61Sep 5, 2022
Mucopolysaccharidosis type 71Jan 3, 2025
Mucopolysaccharidosis, MPS-II7Jan 30, 2023
Mucopolysaccharidosis, MPS-III-B3May 10, 2022
Mucopolysaccharidosis, MPS-IV-A12Aug 26, 2022
Multicentric osteolysis nodulosis arthropathy spectrum6Feb 22, 2022
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome1Sep 13, 2024
Multiple acyl-CoA dehydrogenase deficiency1Oct 1, 2024
Multiple congenital exostosis1Jan 4, 2022
Multiple epiphyseal dysplasia type 13Jan 4, 2022
Multiple epiphyseal dysplasia type 41Jan 23, 2025
Multiple mitochondrial dysfunctions syndrome 51Oct 4, 2021
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41Jan 4, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A141Jan 4, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A32Mar 30, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111Jan 4, 2022
Myasthenic syndrome, congenital, 24, presynaptic2May 28, 2025
Myopia, high, with cataract and vitreoretinal degeneration1Jan 4, 2022
NAD(P)HX dehydratase deficiency1Jan 4, 2022
NAV3-associated neurodevelopmental disorder1Dec 13, 2024
NLRP12-associated autoinflammatory disease1Aug 30, 2023
Nail-patella syndrome1Jan 4, 2022
Nemaline myopathy 101Jan 30, 2023
Nemaline myopathy 21Oct 3, 2024
Neonatal diabetes mellitus with congenital hypothyroidism1Mar 29, 2025
Neonatal pseudo-hydrocephalic progeroid syndrome2Jan 31, 2021
Neonatal severe primary hyperparathyroidism1Dec 23, 2024
Nephronophthisis 14Sep 10, 2024
Nephronophthisis 161Oct 15, 2024
Nephronophthisis 201Apr 24, 2025
Netherton syndrome3Sep 27, 2024
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset1Sep 10, 2022
Neurodegeneration with brain iron accumulation 2B1Mar 14, 2022
Neurodegeneration with brain iron accumulation 41Aug 16, 2022
Neurodegeneration with brain iron accumulation 52Jan 8, 2025
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures1Mar 9, 2023
Neurodegeneration, childhood-onset, with cerebellar atrophy1Aug 29, 2023
Neurodevelopmental abnormality1Jun 20, 2017
Neurodevelopmental disorder with absent language and variable seizures1Jan 30, 2023
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities1May 6, 2021
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction1Jul 14, 2022
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures2Sep 10, 2022
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities1Jan 30, 2023
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia1Apr 23, 2025
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy2Jun 16, 2021
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy1Jul 27, 2024
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy2Feb 11, 2021
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Mar 7, 2025
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1Feb 28, 2025
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum1Feb 4, 2025
Neurodevelopmental disorder with visual defects and brain anomalies1Jan 4, 2022
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities1Mar 4, 2025
Neurofacioskeletal syndrome with or without renal agenesis1Mar 22, 2024
Neurofibromatosis, type 14Sep 4, 2024
Neuronal ceroid lipofuscinosis 11Jan 4, 2022
Neuronal ceroid lipofuscinosis 23Oct 15, 2023
Neuronal ceroid lipofuscinosis 71Jul 21, 2022
Neuronopathy, distal hereditary motor, autosomal recessive 101Mar 7, 2025
Neuropathy, hereditary sensory and autonomic, type 2B1Feb 14, 2024
Nicolaides-Baraitser syndrome1Jun 30, 2021
Niemann-Pick disease, type A1Jun 22, 2024
Niemann-Pick disease, type B1May 21, 2024
Niemann-Pick disease, type C21Jan 4, 2022
Noonan syndrome 11Oct 30, 2023
Noonan syndrome 41Jul 22, 2024
Noonan syndrome 72Jan 30, 2023
Noonan syndrome 81Jan 30, 2023
Norum disease1Jan 17, 2025
Oculocutaneous albinism1Jun 4, 2018
Oculopharyngeal muscular dystrophy1Jan 4, 2022
Odontochondrodysplasia 11Jun 6, 2023
Orofaciodigital syndrome type 61Jan 4, 2022
Osteochondritis dissecans1Jan 4, 2022
Osteogenesis imperfecta2Apr 21, 2025
Osteogenesis imperfecta type 111Jan 8, 2025
Osteogenesis imperfecta type 152Jan 4, 2022
Osteogenesis imperfecta type 52Jan 6, 2025
Osteogenesis imperfecta type 65Mar 13, 2025
Osteogenesis imperfecta type 82Jun 9, 2023
Osteogenesis imperfecta type I3Apr 28, 2022
Osteogenesis imperfecta type III1Aug 4, 2022
Osteogenesis imperfecta with normal sclerae, dominant form2Mar 15, 2024
Osteogenesis imperfecta, perinatal lethal2Aug 16, 2024
Osteoporosis with pseudoglioma1Jan 2, 2025
Osteosclerotic metaphyseal dysplasia2May 10, 2022
PCWH syndrome1May 5, 2021
PERCHING syndrome1Jul 6, 2017
PMM2-congenital disorder of glycosylation1Aug 31, 2024
PMVK-associated autoinflammatory disorder1Mar 24, 2024
POMT2-related disorder1Oct 16, 2024
PSAP-related disorder1May 24, 2025
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Aug 6, 2020
PYCR1- related autosomal recessive cutis laxa1Oct 3, 2024
Pachyonychia congenita 31Sep 11, 2024
Paragangliomas 41Dec 11, 2024
Paramyotonia congenita of Von Eulenburg1Jan 21, 2025
Partington syndrome1Mar 30, 2022
Peeling skin syndrome 11Mar 28, 2023
Pelizaeus-Merzbacher disease1Sep 7, 2024
Peroxisome biogenesis disorder 10A (Zellweger)1May 6, 2021
Peroxisome biogenesis disorder 2B1Jan 30, 2023
Peroxisome biogenesis disorder 7A (Zellweger)1Jan 6, 2022
Peroxisome biogenesis disorder 8B1Sep 14, 2023
Perrault syndrome 14Jan 15, 2025
Perrault syndrome 32Jan 24, 2025
Pfeiffer syndrome1Aug 30, 2023
Phenylketonuria2Jan 4, 2022
Piebaldism1May 18, 2021
Pigmentary pallidal degeneration3Feb 1, 2025
Pitt-Hopkins syndrome1Oct 15, 2023
Polycystic kidney disease, adult type5Jun 5, 2025
Pontocerebellar hypoplasia type 2E1Jul 29, 2022
Pontocerebellar hypoplasia type 61Oct 20, 2021
Pontocerebellar hypoplasia type 91Jan 4, 2022
Pontocerebellar hypoplasia, type 121Sep 13, 2024
Pontocerebellar hypoplasia, type 131Jul 29, 2022
Pontocerebellar hypoplasia, type 161Feb 21, 2022
Primary ciliary dyskinesia 201Jun 29, 2024
Primary ciliary dyskinesia 221Jan 4, 2022
Primary ciliary dyskinesia 31Oct 11, 2022
Primary ciliary dyskinesia 51Jan 4, 2022
Primary dilated cardiomyopathy1Jul 1, 2022
Primary hyperoxaluria, type I1Jan 13, 2024
Progressive familial intrahepatic cholestasis type 22Oct 1, 2024
Progressive myoclonic epilepsy type 34Oct 15, 2023
Progressive myositis ossificans1May 7, 2025
Progressive pseudorheumatoid dysplasia2May 6, 2025
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome1Dec 18, 2023
Prolidase deficiency1Dec 14, 2021
Propionic acidemia3Jul 30, 2024
Proximal 16p11.2 microdeletion syndrome1Feb 26, 2024
Proximal symphalangism 1A1Jul 22, 2023
Pseudo-Hurler polydystrophy2May 9, 2025
Pseudo-TORCH syndrome 11May 6, 2021
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome10Dec 28, 2023
Pseudohypoparathyroidism type I A2Jun 3, 2022
Pulmonary hypertension, primary, 11Apr 5, 2024
Pyknodysostosis4Jan 4, 2022
Pyle metaphyseal dysplasia1Jan 4, 2022
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome2Jan 30, 2024
Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 related mitochanodrial defect1May 9, 2025
Pyridoxine-dependent epilepsy3Aug 13, 2022
Pyruvate dehydrogenase E1-alpha deficiency1Oct 20, 2021
Pyruvate dehydrogenase E3-binding protein deficiency1Oct 16, 2024
Rafiq syndrome2Oct 16, 2024
Rahman syndrome1Jan 1, 2025
Recessive dystrophic epidermolysis bullosa2Apr 2, 2025
Renal carnitine transport defect1Aug 20, 2024
Renal coloboma syndrome1Jan 23, 2025
Renal tubular acidosis, distal, 4, with hemolytic anemia1Dec 16, 2024
Retinitis pigmentosa 251Oct 31, 2022
Retinoblastoma1Jan 4, 2022
Rett syndrome5Mar 27, 2025
Rett syndrome, congenital variant4Feb 14, 2025
Rhizomelic dysplasia, Ain-Naz type1Aug 13, 2024
Roberts-SC phocomelia syndrome1Jan 4, 2022
Rubinstein-Taybi syndrome1Oct 20, 2021
Rubinstein-Taybi syndrome due to CREBBP mutations4Oct 23, 2024
SCN2A-mediated disorder1Jan 9, 2023
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 101Jan 4, 2022
STAT3-related early-onset multisystem autoimmune disease1Jan 4, 2022
Sandhoff disease2Jan 4, 2022
Schaaf-Yang syndrome1Nov 18, 2024
Schinzel-Giedion syndrome1Aug 20, 2024
Schuurs-Hoeijmakers syndrome1Mar 28, 2023
Schwartz-Jampel syndrome type 11Mar 15, 2024
See cases1Apr 2, 2024
Seizures, benign familial neonatal, 11Jan 4, 2022
Senior-Loken syndrome 52Mar 29, 2025
Sessile serrated polyposis cancer syndrome1May 17, 2023
Severe X-linked myotubular myopathy1Apr 28, 2025
Severe combined immunodeficiency due to CARMIL2 deficiency1Jul 12, 2021
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1Feb 2, 2025
Severe early-onset axonal neuropathy due to MFN2 deficiency1Jul 30, 2022
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Jun 27, 2023
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome2Aug 1, 2022
Severe intellectual disability-progressive spastic diplegia syndrome1Mar 29, 2022
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans1May 10, 2022
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 21May 10, 2022
Short stature, microcephaly, and endocrine dysfunction1Nov 21, 2023
Short stature-brachydactyly-obesity-global developmental delay syndrome1Jan 4, 2022
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome1May 28, 2022
Short-rib thoracic dysplasia 16 with or without polydactyly1Jan 4, 2022
Short-rib thoracic dysplasia 19 with or without polydactyly1Feb 4, 2022
Short-rib thoracic dysplasia 6 with or without polydactyly3Oct 24, 2024
Shprintzen-Goldberg syndrome1Jan 4, 2022
Shukla-Vernon syndrome1Jan 4, 2022
Sialidosis type 22Jan 4, 2022
Smith-McCort dysplasia 23May 10, 2022
Sotos syndrome2Oct 23, 2024
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1Aug 12, 2022
Spastic paraplegia-severe developmental delay-epilepsy syndrome1Dec 3, 2021
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome1Jan 10, 2024
Sphingolipid activator protein 1 deficiency1Feb 16, 2022
Spinal muscular atrophy with congenital bone fractures 11Dec 11, 2024
Spinal muscular atrophy with congenital bone fractures 21Sep 13, 2024
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1Jan 6, 2022
Spinocerebellar ataxia 471Mar 4, 2023
Sponastrime dysplasia6May 10, 2022
Spondylocarpotarsal synostosis syndrome8Dec 23, 2024
Spondylocostal dysostosis 1, autosomal recessive1Jan 4, 2022
Spondyloepimetaphyseal dysplasia with joint laxity, type 31Aug 22, 2022
Spondyloepimetaphyseal dysplasia, Genevieve type1Feb 14, 2022
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type1Oct 29, 2021
Spondyloepimetaphyseal dysplasia, Missouri type1Aug 2, 2024
Spondyloepimetaphyseal dysplasia, PAPSS2 type3May 10, 2022
Spondyloepimetaphyseal dysplasia, Strudwick type2Sep 5, 2022
Spondyloepiphyseal dysplasia congenita4Nov 6, 2023
Spondyloepiphyseal dysplasia tarda, X-linked2Aug 30, 2023
Spondyloepiphyseal dysplasia with congenital joint dislocations8Mar 12, 2024
Spondylometaphyseal dysplasia, Kozlowski type2May 17, 2023
Spondylometaphyseal dysplasia, Sedaghatian type1Jan 4, 2022
Spongy degeneration of central nervous system2Feb 25, 2022
Steel syndrome2Oct 20, 2019
Sterile multifocal osteomyelitis with periostitis and pustulosis1Apr 16, 2024
Striatonigral degeneration, childhood-onset1Jan 4, 2022
Sulfite oxidase deficiency1Mar 22, 2022
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1Oct 4, 2024
Surfactant metabolism dysfunction, pulmonary, 21Aug 16, 2022
Syndromic X-linked intellectual disability Claes-Jensen type3Oct 3, 2024
Syndromic X-linked intellectual disability Najm type1Jun 27, 2023
Syndromic intellectual disability1Mar 27, 2017
Syndromic microphthalmia type 51Jan 4, 2022
Synpolydactyly type 11Jan 4, 2022
TCF12-related craniosynostosis1Aug 10, 2021
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome2Jan 4, 2022
TNF receptor-associated periodic fever syndrome (TRAPS)1Jan 21, 2022
TOMM7-related early onset Leigh disease1Dec 23, 2024
Tay-Sachs disease6Jul 18, 2024
Tetraamelia syndrome 21Jan 4, 2022
Thanatophoric dysplasia type 11Jan 4, 2022
Thyroid dyshormonogenesis 62Nov 22, 2024
Tietz syndrome1May 23, 2018
Transcobalamin II deficiency1Jan 4, 2022
Treacher Collins syndrome1Dec 29, 2021
Treacher Collins syndrome 11Nov 2, 2023
Trichohepatoenteric syndrome 11Jan 4, 2022
Trichorhinophalangeal dysplasia type I1Dec 30, 2023
Trichothiodystrophy 2, photosensitive1Mar 9, 2024
Trichothiodystrophy 4, nonphotosensitive1Jan 4, 2022
Tuberous sclerosis 23Aug 16, 2024
Tumoral calcinosis, hyperphosphatemic, familial, 21Dec 14, 2021
Tyrosinase-positive oculocutaneous albinism4Aug 8, 2023
UFSP2-related neurodevelopmental disorder1Apr 19, 2022
USH1C-related disorder1Jan 3, 2025
Ullrich congenital muscular dystrophy 1A1Oct 8, 2024
Upshaw-Schulman syndrome2Aug 9, 2022
Usher syndrome type 2C1Jun 4, 2018
Vanishing white matter disease5Jan 4, 2022
Vasculitis due to ADA2 deficiency2Jun 28, 2022
Ververi-Brady syndrome1Aug 10, 2021
Vitamin D hydroxylation-deficient rickets, type 1B1Jan 4, 2022
Vitamin D-dependent rickets type II with alopecia2Jan 2, 2025
Vitamin D-dependent rickets, type 1A2Jan 14, 2022
WFS1-spectrum disorder1Apr 7, 2025
WT1-related disorder1Aug 2, 2024
Waardenburg syndrome type 14Apr 7, 2021
Waardenburg syndrome type 2A3May 23, 2018
Waardenburg syndrome type 2E2May 24, 2018
Waardenburg syndrome type 31Apr 7, 2021
Waardenburg syndrome type 4A5Apr 1, 2025
Waardenburg syndrome type 4B1Jun 1, 2018
Waardenburg syndrome type 4C1May 24, 2018
Warburg micro syndrome 11Oct 15, 2023
Warburg micro syndrome 31Jan 4, 2022
Wieacker-Wolff syndrome1Sep 19, 2024
Wiedemann-Steiner syndrome3Jun 27, 2023
Wilson disease3Jun 14, 2023
Wiskott-Aldrich syndrome1Nov 15, 2021
Wolfram syndrome 11Jan 4, 2022
X-linked Alport syndrome2Feb 16, 2023
X-linked ichthyosis with steryl-sulfatase deficiency1Sep 18, 2023
X-linked intellectual disability, Cantagrel type1Oct 26, 2022
X-linked intellectual disability-cerebellar hypoplasia syndrome1Aug 2, 2024
X-linked intellectual disability-psychosis-macroorchidism syndrome1May 16, 2025
X-linked severe combined immunodeficiency1Jan 4, 2022
Xeroderma pigmentosum group A3Oct 25, 2024
Xeroderma pigmentosum, group C2Apr 23, 2025
early-onset neurohypophyseal diabetes insipidus1Feb 19, 2025
pseudo-Pelger-Huet anomaly1Apr 15, 2025