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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: 987

Gene

GeneSubmissionsLast Updated
ABCA122Jun 28, 2023
ABCB111Aug 12, 2022
ABCC83Jan 4, 2022
ABCD11Apr 6, 2024
ACAN2May 10, 2022
ACAT13Jan 4, 2022
ACSF32Jun 22, 2022
ACSL41Jan 4, 2022
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
AIMP22Jan 4, 2022
AKT31Jan 30, 2023
ALDH7A13Aug 13, 2022
ALG111Nov 7, 2022
ALG121Jul 29, 2022
ALOX12B1Jul 22, 2023
ALPL1Oct 30, 2023
AMPD21Jan 4, 2022
ANK11Jul 27, 2022
ANKRD113Mar 15, 2024
ANKRD171Jan 4, 2022
ANKS61Jul 14, 2022
ANTXR21Jan 4, 2022
AP3B21May 6, 2021
AP4B11Jan 4, 2022
AP4B1-AS11Jan 4, 2022
AP4S11Jan 31, 2021
ARG12Jan 4, 2024
ARID1B1Jan 31, 2021
ARSA7Jan 4, 2022
ARSB1Sep 5, 2022
ARV11Mar 1, 2024
ARX1Mar 30, 2022
ASNS4Jan 4, 2022
ASPA2Feb 25, 2022
ASPM1Jan 4, 2022
ASS11Jan 4, 2022
ASXL11Nov 17, 2022
ASXL31Jun 27, 2023
ATM7Feb 24, 2024
ATP7A1Jan 4, 2022
ATP7B3Jun 14, 2023
ATRIP1Sep 12, 2023
ATRIP-TREX11Sep 12, 2023
ATRX2Jan 30, 2023
AUH2Jan 4, 2022
AUTS21Jul 21, 2023
B3GALNT21Jan 4, 2022
B9D21Aug 7, 2019
BBS101Jan 4, 2022
BCKDHA1Mar 16, 2022
BCL11A1Jun 27, 2023
BCL11B4Apr 16, 2024
BCL2L2-PABPN11Jan 4, 2022
BCORL11Jan 4, 2022
BMPER1May 10, 2022
BMPR1B2Jun 9, 2023
BMPR21Apr 5, 2024
BNIP11Mar 12, 2021
BRAF2Jan 30, 2023
BRAT12Sep 10, 2022
BRCA12Jul 9, 2022
BRCA21Jan 4, 2022
BRWD31Jan 30, 2023
BTD4Nov 27, 2023
C11orf651Jul 29, 2022
C17orf1071Aug 7, 2023
C19orf122Aug 16, 2022
C1QA2Aug 30, 2023
CACNA1A2Jan 9, 2023
CACNA1G1Jan 6, 2022
CACNA1S1Jan 4, 2022
CANT11Mar 10, 2022
CAPN35Jan 5, 2024
CARMIL21Jul 12, 2021
CASK1Jun 27, 2023
CC2D2A3Jan 30, 2023
CCN61May 10, 2022
CD40LG1Dec 14, 2021
CD79A1Mar 27, 2021
CDKL51Dec 14, 2021
CEP2903Aug 28, 2019
CFAP962Sep 30, 2022
CFTR5Aug 30, 2023
CFTR-AS11Jan 4, 2022
CHD71Jan 4, 2022
CHD81Feb 9, 2024
CHPT11May 10, 2022
CHRNE1Aug 7, 2023
CHST38Mar 12, 2024
CLCN11Feb 11, 2022
CLCN72Dec 9, 2023
CLCNKB1Mar 28, 2023
CLN62Aug 16, 2021
CLPP1Jan 4, 2022
COG81Jan 30, 2023
COL10A15Sep 8, 2022
COL18A11Jan 4, 2022
COL1A18Mar 21, 2024
COL1A22Jul 21, 2023
COL27A12Oct 20, 2019
COL2A110Nov 6, 2023
COL4A31May 13, 2024
COL4A52Feb 16, 2023
COL5A21Jan 30, 2023
COL6A21Sep 22, 2023
COL6A31Jan 4, 2022
COL7A11Jan 4, 2022
COMP12Dec 28, 2023
COPA1Jul 21, 2022
CPEB1-AS11May 6, 2021
CPLANE12Jan 4, 2022
CREBBP3Jan 30, 2023
CRPPA1Jan 4, 2022
CTNNB11Mar 29, 2022
CTSK4Jan 4, 2022
CYB5R31Feb 21, 2023
CYFIP21May 6, 2021
CYP11A11Dec 15, 2021
CYP11B11Jul 27, 2022
CYP27A13Oct 15, 2023
CYP27B12Jan 14, 2022
CYP2R11Jan 4, 2022
CYP2U12Feb 21, 2023
CYP2U1-AS11Dec 14, 2021
CZ1P-ASNS4Jan 4, 2022
DAP31Apr 2, 2024
DARS22Oct 18, 2021
DCX1Jan 30, 2023
DEGS11Apr 28, 2022
DGAT11Feb 1, 2022
DKC12Mar 14, 2022
DLG42Jul 27, 2023
DLL31Jan 4, 2022
DMD5May 5, 2023
DMXL21Oct 15, 2023
DNAH51Oct 11, 2022
DNASE1L31Jul 14, 2022
DNASE21Aug 30, 2023
DNM11Sep 24, 2022
DNMBP1Apr 23, 2024
DNMBP-AS11Apr 23, 2024
DOCK71Jan 29, 2022
DOCK81Dec 14, 2021
DOK72Jan 4, 2022
DYM3Sep 8, 2022
DYNC1H11May 6, 2021
DYNC2H12Jan 4, 2022
DYRK1A1May 6, 2021
DYSF2Jul 22, 2022
EBP2May 10, 2022
ECEL11Mar 27, 2021
ECHS11Oct 15, 2023
EDN31Jun 1, 2018
EDNRB4Apr 7, 2021
EDNRB-AS12Apr 7, 2021
EFTUD21Jan 30, 2023
EIF2AK31Jan 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
ETHE11Dec 5, 2022
EVC1Jan 4, 2022
EVC23May 10, 2022
EXOC6B1Aug 22, 2022
EXT12Dec 30, 2023
EYS1Oct 31, 2022
FAM149B11Apr 23, 2024
FANCL2May 10, 2022
FAS1Oct 3, 2023
FAT41Aug 12, 2022
FBN123Jun 29, 2023
FBN21Jan 30, 2023
FBP11Jan 4, 2022
FERMT11Mar 22, 2023
FGF122Sep 22, 2023
FGF131Jul 24, 2021
FGF232Dec 28, 2023
FGFR11Aug 30, 2023
FGFR22Mar 13, 2024
FGFR310May 17, 2023
FKTN1Jan 4, 2022
FLNA1Jan 4, 2022
FLNB7May 10, 2022
FLNC1Jan 21, 2022
FOXG13Oct 15, 2023
FRAS11Jan 4, 2022
FUCA11May 6, 2021
G6PC32May 9, 2022
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
GFAP2Jun 6, 2022
GHR2Dec 19, 2022
GJB22Sep 30, 2022
GJC23Mar 15, 2024
GLA1Jan 4, 2022
GLB110Aug 5, 2023
GLI31May 10, 2022
GMPPB1Jan 4, 2022
GNAS2Jun 3, 2022
GNE2Aug 5, 2023
GNPTAB4Feb 20, 2024
GNPTG1Sep 29, 2023
GPHN1Jan 4, 2022
GPNMB1Aug 30, 2023
GPX41Jan 4, 2022
GRIN2A1Oct 15, 2023
GRIN2B1Apr 13, 2024
GTF3C2-AS21Feb 11, 2021
HACE11Dec 3, 2021
HBB2Dec 14, 2021
HEXA6Nov 16, 2023
HEXB2Jan 4, 2022
HGD1Aug 30, 2023
HHAT1Mar 27, 2021
HIBCH1Jan 4, 2022
HIVEP21Oct 1, 2021
HJV1May 27, 2022
HK13Apr 9, 2024
HMGCL1Jan 4, 2022
HNRNPH22Aug 14, 2023
HOXA11Jan 4, 2022
HOXD131Jan 4, 2022
HPGD2Jan 4, 2022
HPRT11Jul 27, 2023
HS2ST11Mar 22, 2024
HSD17B41Jan 4, 2022
HSPG21Mar 15, 2024
HTRA11Jan 4, 2022
HYDIN1Jan 4, 2022
IDH12May 10, 2022
IDS7Jan 30, 2023
IDUA2Mar 10, 2022
IFITM51Jan 4, 2022
IFT521Jan 4, 2022
IFT811Feb 4, 2022
IHH1Jan 4, 2022
IL12RB11Nov 13, 2021
IL1RN1Apr 16, 2024
IL21R1Jan 4, 2022
IL2RG1Jan 4, 2022
INVS2Jan 4, 2022
IQCB11May 10, 2024
IRAK41Aug 30, 2023
ISCA12Oct 4, 2021
ITPA1Oct 10, 2023
KCNJ101May 6, 2021
KCNJ21Mar 13, 2024
KCNK181Jan 9, 2023
KCNQ23Oct 15, 2023
KCNT13Oct 15, 2023
KCTD74Oct 15, 2023
KDM5C2Jan 30, 2023
KDM6B1Jan 30, 2023
KIF26A1Jun 23, 2017
KLHL71Jul 6, 2017
KMT2A3Jun 27, 2023
KMT2B1Jul 18, 2023
KMT2D1Aug 10, 2021
KRAS1Jun 28, 2022
L1CAM1Feb 11, 2021
L2HGDH1Oct 7, 2021
LACC12May 23, 2022
LAMA25Jan 4, 2022
LAMA31May 23, 2022
LAMB31Jan 4, 2022
LAMC22May 25, 2022
LEMD31May 23, 2022
LIPA1Jan 4, 2022
LMNA1Apr 13, 2024
LMOD31Jan 30, 2023
LMX1B1Jan 4, 2022
LOC1005073462Jan 7, 2022
LOC1019283711Jan 4, 2022
LOC1019285252Aug 10, 2023
LOC1027240582Jan 4, 2022
LOC1060501021Jan 30, 2023
LOC1060990622Dec 14, 2021
LOC1066279814Dec 13, 2023
LOC1067998331Jul 27, 2022
LOC1071335102Dec 14, 2021
LOC1116744721Jan 4, 2022
LOC1139399441Jan 4, 2022
LOC1171255881Aug 30, 2023
LOC1171255941Jan 4, 2022
LOC1230381851Jul 22, 2023
LOC1268058221Jan 4, 2022
LOC1268066591Mar 29, 2022
LOC1268612422Jan 4, 2022
LOC1268616641Jan 4, 2022
LOC1268618981Jul 21, 2022
LOC1268624471May 10, 2022
LOC1268624791Jul 27, 2023
LOC1268629831Jun 20, 2017
LOC1278142971Dec 7, 2023
LOC1299364342Jan 4, 2022
LOC1299925851May 23, 2022
LOC1299931101Jan 4, 2022
LOC1299965171Mar 21, 2022
LOC1300095851Sep 12, 2023
LOC1300554971Aug 30, 2023
LOC1300562171Apr 21, 2022
LOC1300593041Jan 30, 2023
LOC1300594951Jan 4, 2022
LOC1300597621May 10, 2022
LOC1300609591May 9, 2022
LOC1300678621Jan 4, 2022
LONP12Jan 4, 2022
LPAR61Mar 31, 2022
LPL2Mar 28, 2023
LRBA2Jan 4, 2022
LRRK12May 10, 2022
LRSAM11Feb 5, 2024
LYRM71Sep 11, 2023
MAN1B11Sep 13, 2023
MAP2K11Sep 22, 2023
MAP3K71Feb 12, 2022
MBOAT71Oct 15, 2023
MECP24Oct 15, 2023
MED121Jan 4, 2022
MED232Jan 4, 2024
MEF2C1Jan 4, 2022
MEFV1Jan 4, 2022
MEIS21Aug 9, 2022
MFF-DT1May 13, 2024
MFN22Aug 4, 2023
MFSD82Jul 21, 2022
MGME11Jun 20, 2017
MINK11Aug 7, 2023
MINPP11Feb 21, 2022
MITF4May 23, 2018
MLC12Jan 4, 2022
MMAA1Aug 16, 2022
MMAB2Jan 5, 2024
MMACHC1Apr 17, 2024
MMADHC1Jan 4, 2022
MMP26Feb 22, 2022
MPDU11Jan 31, 2021
MPLKIP1Jan 4, 2022
MRPS22Aug 10, 2023
MSH21Jun 22, 2022
MSTO12Apr 19, 2022
MT-ND41Jul 8, 2021
MTHFR4May 23, 2022
MVK2Jul 14, 2022
MVP-DT1Oct 15, 2023
MYH33Jul 19, 2023
MYH71Jul 21, 2022
MYO5A1Sep 2, 2022
MYO9A2Sep 25, 2023
MYOD11May 20, 2019
MYPN1Feb 27, 2023
NAGLU3May 10, 2022
NANS1Feb 14, 2022
NAXD1Jan 4, 2022
NAXE1Dec 14, 2021
NBAS1May 28, 2022
NCF41Jul 14, 2022
NDUFV14Jan 4, 2022
NDUFV21Jan 4, 2022
NDUFV2-AS11Jan 4, 2022
NEK12Jan 4, 2022
NEPRO1May 10, 2022
NEU12Jan 4, 2022
NEXMIF1Oct 26, 2022
NF12Aug 1, 2022
NFIX1Sep 6, 2022
NFKBIA1Aug 30, 2023
NIPBL2Jan 30, 2023
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
NSD11Feb 7, 2022
NT5DC15Sep 8, 2022
NUP2141Jan 4, 2022
OBSL13May 10, 2022
OCA24Aug 8, 2023
OCLN1May 6, 2021
OFD12Aug 30, 2023
OPA31Mar 27, 2021
OTOG1Feb 21, 2024
OTX21Jan 4, 2022
P3H12Jun 9, 2023
P3H21Jan 4, 2022
PABPN11Jan 4, 2022
PACS11Mar 28, 2023
PAH1Jan 4, 2022
PANK22Nov 4, 2023
PAPSS23May 10, 2022
PAX35Apr 7, 2021
PAX61Mar 27, 2021
PCCA2Jan 4, 2022
PCDH121May 5, 2021
PCNT1Jan 4, 2022
PDHA11Oct 20, 2021
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
PHEX9Apr 13, 2024
PHEX-AS11Jan 14, 2022
PHKG22Jan 4, 2022
PIBF12Jan 4, 2022
PIDD11Jan 30, 2023
PIEZO21Jan 4, 2022
PIGH1Jan 4, 2022
PISD1Jan 4, 2022
PKD11May 11, 2024
PKD1-AS11May 11, 2024
PLA2G61Mar 14, 2022
PLAA1Apr 8, 2023
PLEC2May 25, 2022
PLP11Jan 4, 2022
PMVK1Mar 24, 2024
PNKP1Feb 22, 2022
PNPLA81Jan 4, 2022
PNPT11Jan 31, 2021
POLR1C3Mar 21, 2022
POLR2F3May 5, 2021
POLR3A2Jan 31, 2021
POMGNT12Mar 30, 2022
POMT22Jan 4, 2022
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
PSAP2Feb 8, 2024
PSTPIP12Jan 30, 2024
PTCH12Jan 7, 2022
PTCHD1-AS2Apr 13, 2024
PTDSS11Jan 4, 2022
PTEN1Jun 6, 2023
PTH1R2May 17, 2019
PTH2R1Mar 27, 2017
PTPN111Oct 30, 2023
PUM11Mar 4, 2023
PURA1Aug 6, 2020
PYGM2Jan 4, 2022
QRICH11Aug 10, 2021
RAB181Jan 4, 2022
RAB27A1Feb 7, 2024
RAB33B3May 10, 2022
RAB3GAP11Oct 15, 2023
RAB9B1Jan 4, 2022
RAG11Jul 14, 2022
RAPSN1Jan 4, 2022
RARS21Oct 20, 2021
RB12Mar 31, 2022
RET1Jan 4, 2022
RETREG11Feb 14, 2024
RIT11Jan 30, 2023
RNASEH2C2Jul 22, 2022
RNF141May 5, 2021
RNF2161Mar 10, 2022
RNF431May 17, 2023
RPIA1Jan 4, 2022
RPL131Oct 29, 2021
RPL36A-HNRNPH23Aug 14, 2023
RPS6KA31Jan 4, 2022
RSPO21Jan 4, 2022
RSPRY11Dec 18, 2023
RTTN1Jul 9, 2021
RUNX21Jul 19, 2023
SACS1Aug 2, 2021
SAMHD11Jan 4, 2022
SCN1A3Jan 17, 2022
SCN2A3Jan 30, 2023
SCO21Jan 4, 2022
SCUBE31May 10, 2022
SDHB2Apr 21, 2022
SERPINF14Apr 13, 2024
SETBP11May 5, 2021
SETD1B1Nov 9, 2022
SETD51Jan 30, 2023
SFRP41Jan 4, 2022
SFTPC1Aug 16, 2022
SGCB1May 23, 2022
SGMS21Dec 14, 2021
SH2B31Feb 6, 2023
SHMT21May 6, 2021
SKI1Jan 4, 2022
SKIC31Jan 4, 2022
SLC12A31Jan 4, 2022
SLC13A51Jan 28, 2022
SLC19A33Apr 13, 2024
SLC1A41Jan 10, 2024
SLC25A121Jun 23, 2022
SLC26A21Jan 4, 2022
SLC29A31Jun 28, 2022
SLC2A21Dec 20, 2022
SLC34A31Jan 4, 2022
SLC37A42Sep 18, 2023
SLC4A11May 31, 2023
SLC5A21Sep 28, 2023
SLCO2A13Jul 22, 2023
SMARCA21Jun 30, 2021
SMARCA41Jun 7, 2022
SMARCD11Sep 11, 2021
SMPD11Jul 29, 2022
SNAP291Jan 4, 2022
SNHG311Jul 2, 2022
SNX101Apr 28, 2022
SNX141Nov 14, 2016
SOX103May 5, 2021
SOX111Jan 4, 2022
SPAG81Jan 4, 2022
SPATA222Feb 25, 2022
SPG112Nov 4, 2023
SPINK51Apr 28, 2022
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
SURF13Apr 1, 2023
TAF1A1Jul 1, 2022
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
TGFBR24May 10, 2022
THOC61Jan 4, 2022
TJP21Aug 17, 2021
TMEM1631Sep 11, 2023
TMEM672Jan 4, 2022
TMEM941Jan 4, 2022
TMPPE2Jan 4, 2022
TNFAIP31Aug 30, 2023
TNFRSF11A1Jun 30, 2023
TNFRSF1A1Jan 21, 2022
TONSL6May 10, 2022
TONSL-AS11Jan 4, 2022
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
TRAPPC91May 10, 2022
TREX11Sep 12, 2023
TRIM141Feb 14, 2022
TRIP112Jun 6, 2023
TRMT10A1Jan 4, 2022
TRPM61Apr 3, 2023
TRPS11Dec 30, 2023
TRPV44May 17, 2023
TRRAP1Sep 30, 2022
TSC22Feb 26, 2024
TSPAN12Mar 30, 2022
TTC82May 27, 2022
TUBA1A1Jan 4, 2022
TUBB31Jan 4, 2022
TUBB4A1Aug 10, 2021
TUBG11Jan 30, 2023
TXNDC151Aug 7, 2019
TYMP1Jan 4, 2022
TYR1Jun 4, 2018
UFM11Sep 12, 2023
UFSP22Sep 30, 2022
UGDH1Jan 31, 2021
UTP14C1Nov 7, 2022
VAC141Jan 4, 2022
VARS12Feb 11, 2021
VCP1Jan 4, 2022
VDR1Jan 4, 2022
VPS13B1Jan 4, 2022
VPS33B1Jan 4, 2022
VPS511Jul 29, 2022
VPS531Jul 29, 2022
VRK21Jan 4, 2022
WAS1Nov 15, 2021
WASF11Jan 30, 2023
WDR11Jan 21, 2022
WDR451Dec 22, 2023
WDR621Jan 28, 2022
WDR721Mar 12, 2022
WFS11Jan 4, 2022
WNT11Jan 4, 2022
WWOX1Sep 10, 2022
XPA2Jan 4, 2022
XRCC41Nov 21, 2023
ZBTB183Jan 30, 2023
ZBTB241Feb 9, 2023
ZMYND101Jan 4, 2022

Condition

NameSubmissionsLast Updated
3-Methylglutaconic aciduria type 31Mar 27, 2021
3-methylglutaconic aciduria type 12Jan 4, 2022
3M syndrome 23May 10, 2022
46,XY sex reversal 31Jan 4, 2022
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
Achondrogenesis type II2May 10, 2022
Achondrogenesis, type IA1Feb 4, 2022
Achondroplasia6Sep 5, 2022
Acid sphingomyelinase deficiency1Jul 29, 2022
Acromesomelic dysplasia 1, Maroteaux type5Sep 6, 2022
Acromesomelic dysplasia 32Jun 9, 2023
Acute myeloid leukemia1Jan 4, 2022
Adams-Oliver syndrome 51Jul 27, 2022
Adrenoleukodystrophy1Apr 6, 2024
Agammaglobulinemia 3, autosomal recessive1Mar 27, 2021
Aicardi-Goutieres syndrome 11Sep 12, 2023
Aicardi-Goutieres syndrome 32Jul 22, 2022
Aicardi-Goutieres syndrome 51Jan 4, 2022
Alexander disease2Jun 6, 2022
Alkaptonuria1Aug 30, 2023
Alport syndrome 3b, autosomal recessive1May 13, 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, distal, with impaired proprioception and touch1Jan 4, 2022
Arthrogryposis, renal dysfunction, and cholestasis 13Jan 4, 2022
Asphyxiating thoracic dystrophy 32Jan 4, 2022
Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability1Aug 2, 2021
Ataxia-telangiectasia syndrome7Feb 24, 2024
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 hypophosphatemic rickets1Dec 28, 2023
Autosomal dominant nonsyndromic hearing loss 151Dec 7, 2023
Autosomal recessive congenital ichthyosis 21Jul 22, 2023
Autosomal recessive congenital ichthyosis 4B2Jun 28, 2023
Autosomal recessive hypophosphatemic bone disease1Jan 4, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2A5Jan 5, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2B2Jul 22, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2E1May 23, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2N2Jan 4, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2U1Jan 4, 2022
Autosomal recessive nonsyndromic hearing loss 18B1Feb 21, 2024
Autosomal recessive nonsyndromic hearing loss 1A2Sep 30, 2022
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 spinocerebellar ataxia 201Nov 14, 2016
Autosomal systemic lupus erythematosus type 161Jul 14, 2022
BCL11B-related disorder1Apr 16, 2024
Bardet-Biedl syndrome 101Jan 4, 2022
Bardet-Biedl syndrome 82May 27, 2022
Bartter disease type 31Mar 28, 2023
Beta-hydroxyisobutyryl-CoA deacylase deficiency1Jan 4, 2022
Beta-thalassemia major2Dec 14, 2021
Bethlem myopathy 1A2Sep 22, 2023
Bilateral frontoparietal polymicrogyria1Oct 20, 2021
Biotin-responsive basal ganglia disease3Apr 13, 2024
Biotinidase deficiency4Nov 27, 2023
Blau syndrome2Aug 30, 2023
Blepharophimosis - intellectual disability syndrome, MKB type1Jan 4, 2022
Bohring-Opitz syndrome1Nov 17, 2022
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 association1Jan 4, 2022
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 malformation, cleft lip/palate, microcephaly, and digital anomalies1Aug 9, 2022
Cardioacrofacial dysplasia 11May 10, 2022
Cardiofaciocutaneous syndrome 31Sep 22, 2023
Cardiospondylocarpofacial syndrome1Feb 12, 2022
Cataract 481Apr 23, 2024
Cerebellar ataxia-hypogonadism syndrome1Mar 10, 2022
Ceroid lipofuscinosis, neuronal, 6A2Aug 16, 2021
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
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1May 5, 2021
Cholestanol storage disease3Oct 15, 2023
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
Citrullinemia type I1Jan 4, 2022
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 syndrome1Jan 4, 2022
Coloboma, ocular, autosomal dominant1Mar 27, 2021
Combined PSAP deficiency1Feb 8, 2024
Combined immunodeficiency due to DOCK8 deficiency1Dec 14, 2021
Combined immunodeficiency due to LRBA deficiency2Jan 4, 2022
Combined malonic and methylmalonic acidemia2Jun 22, 2022
Combined oxidative phosphorylation defect type 131Jan 31, 2021
Combined oxidative phosphorylation deficiency 362Aug 10, 2023
Complex cortical dysplasia with other brain malformations 11Jan 4, 2022
Complex cortical dysplasia with other brain malformations 41Jan 30, 2023
Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency1Dec 15, 2021
Congenital contractural arachnodactyly1Jan 30, 2023
Congenital diarrhea 7 with exudative enteropathy1Feb 1, 2022
Congenital disorder of glycosylation, type iit1May 6, 2021
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 form1Feb 11, 2022
Congenital sensorineural hearing impairment1May 23, 2018
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A1Oct 6, 2022
Contractures, pterygia, and variable skeletal fusions syndrome 1B2Jul 19, 2023
Cornelia de Lange syndrome 12Jan 30, 2023
Cryptosporidiosis-chronic cholangitis-liver disease syndrome1Jan 4, 2022
Curry-Hall syndrome1Jan 31, 2021
Cutis laxa, autosomal recessive, type 1B1Jan 4, 2022
Cyclical neutropenia1Mar 14, 2022
Cystic fibrosis5Aug 30, 2023
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 encephalopathy 1061Sep 30, 2022
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, 21Dec 14, 2021
Developmental and epileptic encephalopathy, 231Jan 29, 2022
Developmental and epileptic encephalopathy, 251Jan 28, 2022
Developmental and epileptic encephalopathy, 281Sep 10, 2022
Developmental and epileptic encephalopathy, 311Sep 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, musculoskeletal defects, and behavioral abnormalities1Feb 16, 2022
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 5D1Mar 27, 2021
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Jan 4, 2022
Duchenne muscular dystrophy5May 5, 2023
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 infantile epileptic encephalopathy with suppression bursts1Sep 5, 2022
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
Ehlers-Danlos syndrome, classic type, 21Jan 30, 2023
Eiken syndrome2May 17, 2019
Ellis-van Creveld syndrome3May 10, 2022
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11Dec 14, 2021
Enchondromatosis2May 10, 2022
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
Episodic ataxia type 21Jan 4, 2022
Ethylmalonic encephalopathy1Dec 5, 2022
FGFR2-related craniosynostosis1Aug 10, 2022
FRAXE1Jan 4, 2022
Fabry disease1Jan 4, 2022
Familial Mediterranean fever, autosomal dominant1Jan 4, 2022
Familial X-linked hypophosphatemic vitamin D refractory rickets9Apr 13, 2024
Familial aplasia of the vermis1Jul 6, 2017
Familial hemophagocytic lymphohistiocytosis 51Aug 30, 2023
Familial hypokalemia-hypomagnesemia1Jan 4, 2022
Familial medullary thyroid carcinoma1Jan 4, 2022
Familial myelofibrosis1Feb 6, 2023
Familial renal glucosuria1Sep 28, 2023
Fanconi anemia complementation group A1May 10, 2022
Fanconi anemia complementation group D11Jan 4, 2022
Fanconi anemia complementation group L1Jan 4, 2022
Fanconi-Bickel syndrome1Dec 20, 2022
Fatal multiple mitochondrial dysfunctions syndrome1Jan 31, 2017
Finnish congenital nephrotic syndrome1Dec 22, 2023
Floating-Harbor syndrome1Jul 27, 2022
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 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
Glucose-6-phosphate transport defect2Sep 18, 2023
Glutaric aciduria, type 13Jan 4, 2022
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
Glycosylphosphatidylinositol biosynthesis defect 171Jan 4, 2022
Gorlin syndrome2Jan 7, 2022
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
Hemochromatosis type 2A1May 27, 2022
Hennekam lymphangiectasia-lymphedema syndrome 21Aug 12, 2022
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 431Jan 4, 2022
Hereditary spastic paraplegia 471Jan 4, 2022
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 syndrome2Mar 10, 2022
Hutchinson-Gilford syndrome1Apr 13, 2024
Hyaline fibromatosis syndrome1Jan 4, 2022
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1Jan 4, 2022
Hyperimmunoglobulin D with periodic fever2Jul 14, 2022
Hyperinsulinemic hypoglycemia, familial, 13Jan 4, 2022
Hyperlipoproteinemia, type I2Mar 28, 2023
Hyperphosphatasia with intellectual disability syndrome 41Jan 4, 2022
Hypertrophic cardiomyopathy 11Jul 21, 2022
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 23Mar 15, 2024
Hypomyelinating leukodystrophy 61Aug 10, 2021
Hypophosphatemic rickets1Mar 12, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32Jul 31, 2021
Hypotrichosis 81Mar 31, 2022
Immunodeficiency 671Aug 30, 2023
Immunodeficiency, X-linked, with hyper-IgM1Dec 14, 2021
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 seizures and language delay1Nov 9, 2022
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 lissencephaly1Jan 30, 2023
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 201Jan 4, 2022
Intellectual disability, autosomal dominant 223Jan 30, 2023
Intellectual disability, autosomal dominant 271Jan 4, 2022
Intellectual disability, autosomal dominant 291May 5, 2021
Intellectual disability, autosomal dominant 431Oct 1, 2021
Intellectual disability, autosomal dominant 61Apr 13, 2024
Intellectual disability, autosomal recessive 131May 10, 2022
Intellectual disability, autosomal recessive 571Oct 15, 2023
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
Joubert syndrome 171Jan 4, 2022
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 11Aug 10, 2021
Kindler syndrome1Mar 22, 2023
Kniest dysplasia2Jan 4, 2022
Knobloch syndrome1Jan 4, 2022
L-2-hydroxyglutaric aciduria1Oct 7, 2021
Landau-Kleffner syndrome1Oct 15, 2023
Laron-type isolated somatotropin defect2Dec 19, 2022
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
Leukodystrophy, hypomyelinating, 141Sep 12, 2023
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
Liberfarb syndrome1Jan 4, 2022
Lissencephaly due to TUBA1A mutation1Jan 4, 2022
Lissencephaly type 1 due to doublecortin gene mutation1Jan 30, 2023
Loeys-Dietz syndrome 12Jan 4, 2022
Loeys-Dietz syndrome 24May 10, 2022
Lymphatic malformation 31Jul 21, 2022
Lysosomal acid lipase deficiency1Jan 4, 2022
MASA syndrome1Feb 11, 2021
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 syndrome15Jun 29, 2023
Marshall-Smith syndrome1Sep 6, 2022
Matthew-Wood syndrome1Apr 15, 2021
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 syndrome2Jan 4, 2022
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, 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
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 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 12Apr 1, 2023
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
Mucolipidosis type II3May 10, 2022
Mucopolysaccharidosis type 61Sep 5, 2022
Mucopolysaccharidosis, MPS-II7Jan 30, 2023
Mucopolysaccharidosis, MPS-III-B3May 10, 2022
Mucopolysaccharidosis, MPS-IV-A12Aug 26, 2022
Multicentric osteolysis nodulosis arthropathy spectrum6Feb 22, 2022
Multiple congenital exostosis1Jan 4, 2022
Multiple epiphyseal dysplasia type 13Jan 4, 2022
Multiple epiphyseal dysplasia type 41Jan 4, 2022
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, presynaptic2Sep 25, 2023
Myopia, high, with cataract and vitreoretinal degeneration1Jan 4, 2022
NAD(P)HX dehydratase deficiency1Jan 4, 2022
NLRP12-associated autoinflammatory disease1Aug 30, 2023
Nail-patella syndrome1Jan 4, 2022
Nemaline myopathy 101Jan 30, 2023
Neonatal pseudo-hydrocephalic progeroid syndrome2Jan 31, 2021
Nephronophthisis 13Jun 6, 2023
Nephronophthisis 161Jul 14, 2022
Netherton syndrome1Apr 28, 2022
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 51Dec 22, 2023
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 epilepsy, spasticity, and brain atrophy2Jun 16, 2021
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy2Feb 11, 2021
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1Apr 8, 2023
Neurodevelopmental disorder with visual defects and brain anomalies1Jan 4, 2022
Neurofacioskeletal syndrome with or without renal agenesis1Mar 22, 2024
Neurofibromatosis, type 12Aug 1, 2022
Neuronal ceroid lipofuscinosis 11Jan 4, 2022
Neuronal ceroid lipofuscinosis 23Oct 15, 2023
Neuronal ceroid lipofuscinosis 71Jul 21, 2022
Neuropathy, hereditary sensory and autonomic, type 2B1Feb 14, 2024
Nicolaides-Baraitser syndrome1Jun 30, 2021
Niemann-Pick disease, type B1May 21, 2024
Niemann-Pick disease, type C21Jan 4, 2022
Non-ketotic hyperglycinemia1Jan 4, 2022
Noonan syndrome 11Oct 30, 2023
Noonan syndrome 72Jan 30, 2023
Noonan syndrome 81Jan 30, 2023
Oculocutaneous albinism1Jun 4, 2018
Oculopharyngeal muscular dystrophy1Jan 4, 2022
Odontochondrodysplasia 11Jun 6, 2023
Orofaciodigital syndrome type 61Jan 4, 2022
Osteochondritis dissecans1Jan 4, 2022
Osteogenesis imperfecta1Mar 21, 2024
Osteogenesis imperfecta type 152Jan 4, 2022
Osteogenesis imperfecta type 51Jan 4, 2022
Osteogenesis imperfecta type 64Apr 13, 2024
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 lethal1May 10, 2022
Osteosclerotic metaphyseal dysplasia2May 10, 2022
PCWH syndrome1May 5, 2021
PERCHING syndrome1Jul 6, 2017
PMVK-associated autoinflammatory disorder1Mar 24, 2024
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Aug 6, 2020
Partington syndrome1Mar 30, 2022
Peeling skin syndrome 11Mar 28, 2023
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 13Jan 4, 2022
Perrault syndrome 31Jan 4, 2022
Pfeiffer syndrome1Aug 30, 2023
Phenylketonuria2Jan 4, 2022
Piebaldism1May 18, 2021
Pigmentary pallidal degeneration2Nov 4, 2023
Pitt-Hopkins syndrome1Oct 15, 2023
Polycystic kidney disease, adult type1May 11, 2024
Pontocerebellar hypoplasia type 2E1Jul 29, 2022
Pontocerebellar hypoplasia type 61Oct 20, 2021
Pontocerebellar hypoplasia type 91Jan 4, 2022
Pontocerebellar hypoplasia, type 131Jul 29, 2022
Pontocerebellar hypoplasia, type 161Feb 21, 2022
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 21Aug 12, 2022
Progressive myoclonic epilepsy type 34Oct 15, 2023
Progressive pseudorheumatoid dysplasia1May 10, 2022
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome1Dec 18, 2023
Prolidase deficiency1Dec 14, 2021
Propionic acidemia2Jan 4, 2022
Proximal 16p11.2 microdeletion syndrome1Feb 26, 2024
Proximal symphalangism 1A1Jul 22, 2023
Pseudo-Hurler polydystrophy1Feb 20, 2024
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
Pyridoxine-dependent epilepsy3Aug 13, 2022
Pyruvate dehydrogenase E1-alpha deficiency1Oct 20, 2021
Rafiq syndrome1Sep 13, 2023
Recessive dystrophic epidermolysis bullosa1Jan 4, 2022
Renal tubular acidosis, distal, 4, with hemolytic anemia1May 31, 2023
Retinitis pigmentosa 251Oct 31, 2022
Retinoblastoma1Jan 4, 2022
Rett syndrome5Oct 15, 2023
Rett syndrome, congenital variant3Oct 15, 2023
Roberts-SC phocomelia syndrome1Jan 4, 2022
Rubinstein-Taybi syndrome1Oct 20, 2021
Rubinstein-Taybi syndrome due to CREBBP mutations2Jan 30, 2023
SCN2A-mediated disorder1Jan 9, 2023
STAT3-related early-onset multisystem autoimmune disease1Jan 4, 2022
Sandhoff disease2Jan 4, 2022
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 51May 10, 2024
Sessile serrated polyposis cancer syndrome1May 17, 2023
Severe combined immunodeficiency due to CARMIL2 deficiency1Jul 12, 2021
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1Jul 14, 2022
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 polydactyly2Jan 4, 2022
Shprintzen-Goldberg syndrome1Jan 4, 2022
Shukla-Vernon syndrome1Jan 4, 2022
Sialidosis type 22Jan 4, 2022
Skin/hair/eye pigmentation, variation in, 101Jan 4, 2022
Smith-McCort dysplasia 23May 10, 2022
Sotos syndrome1Feb 7, 2022
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy1Aug 12, 2022
Spastic paraplegia 52, autosomal recessive1Jan 31, 2021
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
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1Jan 6, 2022
Spinocerebellar ataxia 471Mar 4, 2023
Sponastrime dysplasia6May 10, 2022
Spondylocarpotarsal synostosis syndrome6May 10, 2022
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, 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
Surfactant metabolism dysfunction, pulmonary, 21Aug 16, 2022
Syndromic X-linked intellectual disability Claes-Jensen type2Jan 30, 2023
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
Tay-Sachs disease6Nov 16, 2023
Tetraamelia syndrome 21Jan 4, 2022
Thanatophoric dysplasia type 11Jan 4, 2022
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 22Feb 26, 2024
Tumoral calcinosis, hyperphosphatemic, familial, 21Dec 14, 2021
Tyrosinase-positive oculocutaneous albinism4Aug 8, 2023
UFSP2-related neurodevelopmental disorder1Apr 19, 2022
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 alopecia1Jan 4, 2022
Vitamin D-dependent rickets, type 1A2Jan 14, 2022
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 4A4Apr 7, 2021
Waardenburg syndrome type 4B1Jun 1, 2018
Waardenburg syndrome type 4C1May 24, 2018
Warburg micro syndrome 11Oct 15, 2023
Warburg micro syndrome 31Jan 4, 2022
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 severe combined immunodeficiency1Jan 4, 2022
Xeroderma pigmentosum group A2Jan 4, 2022