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Foundation for Research in Genetics and Endocrinology (FRIGE's Institute of Human Genetics), FRIGE - IHG

General information

Foundation for Research in Genetics and Endocrinology, FRIGE - IHG
FRIGE's Institute of Human Genetics
FRIGE House, Jodhpur Village Road,
Ahmedabad
Gujarat
India - 380015
http://www.geneticcentre.org/
Organization ID: 505565

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1025

Gene

GeneSubmissionsLast Updated
AAAS1Mar 20, 2019
ABCA124Dec 19, 2022
ABCA31Aug 14, 2020
ABCA41Feb 3, 2020
ABCB114Mar 27, 2024
ABCC82Nov 17, 2022
ABCD12Aug 14, 2020
ABL11Nov 3, 2023
ACADVL2Jul 1, 2024
ACAN2Jan 31, 2023
ACAT11Sep 14, 2017
ACTA11Jan 19, 2017
ACTB1Feb 17, 2024
ACTG11Nov 16, 2022
ACTN21Dec 13, 2022
ADAMTSL21May 17, 2018
ADCY101Feb 5, 2024
ADCY51Jun 1, 2020
ADGRG12Jan 25, 2019
AFG3L21Jan 19, 2017
AGRN1Jun 25, 2018
AHDC11Jun 3, 2024
ALAD1Jul 17, 2018
ALDH4A12Dec 28, 2022
ALDH5A11Jun 11, 2022
ALDH7A11Dec 15, 2022
ALMS12Apr 23, 2022
ALS21Dec 17, 2018
AMPD21Sep 7, 2022
ANAPC151Jul 7, 2017
ANKRD112Feb 24, 2022
ANKRD172Jul 8, 2023
AP1G11Jan 9, 2024
AP4B11Sep 7, 2022
AP4B1-AS11Sep 7, 2022
APC3Apr 14, 2023
APP1Mar 3, 2022
APTX1Jun 26, 2019
AR3Jul 1, 2023
ARG11Apr 26, 2021
ARID1A1Jun 3, 2020
ARID22Feb 24, 2023
ARL13B1May 8, 2024
ARSA11Mar 26, 2024
ARSB7Oct 5, 2023
ASL1Jun 19, 2020
ASPA1Jul 18, 2018
ASPM1Dec 12, 2019
ASS11Jul 24, 2018
ATM7Feb 17, 2024
ATP13A21Sep 12, 2019
ATP6V0A41May 15, 2024
ATP7A2May 18, 2024
ATP7B4Jun 16, 2023
ATRX1Mar 1, 2022
AUTS21Dec 15, 2022
B4GALT71Aug 14, 2020
BBS102Jan 21, 2023
BCL11A1Jul 24, 2023
BCOR1Jun 3, 2024
BDP11Nov 17, 2022
BICRA1Feb 21, 2023
BMP12Nov 24, 2022
BMPR1A1Mar 3, 2022
BRAF2May 18, 2023
BRAT12Jun 18, 2024
BRCA13Apr 23, 2024
BRCA24Dec 19, 2022
BRIP11Feb 3, 2020
BSCL21Oct 24, 2017
C11orf654Jan 9, 2024
C12orf571Sep 14, 2021
C17orf1072Sep 13, 2022
C19orf124Sep 14, 2023
C31Aug 1, 2023
CA81Sep 10, 2018
CACNA1A4Oct 5, 2023
CACNA1C1Jun 28, 2018
CACNA1D1Jun 11, 2022
CACNA1E1Feb 23, 2022
CACNA1S1Jun 28, 2018
CAMK2A1Dec 15, 2022
CAPN38Jan 25, 2023
CASK1Sep 5, 2023
CCDC1831Feb 5, 2024
CCDC183-AS11Feb 5, 2024
CCDC88C4Aug 22, 2023
CDH11Feb 5, 2020
CDH21Sep 12, 2023
CDH232Nov 16, 2022
CDK131Jun 30, 2018
CEP2901Jun 30, 2018
CFTR3Mar 30, 2020
CFTR-AS12Mar 11, 2020
CHD12May 2, 2024
CHD21Sep 24, 2022
CHD31Apr 13, 2023
CHD41Jan 31, 2023
CHD51Jun 18, 2024
CHKB1Jul 10, 2017
CHKB-CPT1B1Jul 10, 2017
CHRNA31Nov 24, 2022
CHRND1Feb 24, 2022
CHRNE2Sep 13, 2022
CIB21Nov 16, 2022
CIC3Jan 29, 2024
CLCN21Oct 19, 2021
CLCN72Jun 30, 2018
CLDN111Jan 9, 2024
CLN51Apr 3, 2023
CLN62Apr 17, 2023
CNGB31Feb 5, 2020
CNTNAP22Dec 17, 2022
COL11A21Sep 7, 2022
COL12A11Apr 22, 2022
COL1A12Sep 7, 2022
COL1A22Apr 22, 2024
COL4A11Nov 17, 2022
COL4A56Nov 10, 2023
COL4A61Dec 28, 2018
COL5A11Sep 19, 2022
COL6A11Jun 28, 2018
COL6A22Jan 9, 2024
COL6A32Sep 15, 2021
COL7A14Mar 2, 2023
COMP1Jun 3, 2023
CPT1C1Aug 22, 2023
CR22Feb 24, 2022
CREBBP4May 14, 2024
CTCFL1Apr 26, 2023
CUL71Jul 13, 2020
CUX21Jul 17, 2023
CYP11B11Oct 19, 2022
CYP1B11Nov 17, 2023
CYP21A21Aug 21, 2017
DCAF61Feb 5, 2024
DCDC21Mar 2, 2022
DCHS11Aug 4, 2017
DDHD12Feb 25, 2022
DEAF11Feb 25, 2022
DEPDC54May 8, 2023
DES1May 14, 2024
DHCR71May 2, 2024
DIPK1A1Mar 21, 2019
DMAC2L1Mar 3, 2022
DMD9May 2, 2024
DMXL22Nov 11, 2023
DNAH12Mar 18, 2023
DNAH172Apr 25, 2023
DNAH17-AS12Apr 25, 2023
DNAH92Apr 7, 2023
DOK73Dec 7, 2022
DPP61Jan 12, 2024
DPY19L21Jul 2, 2024
DYNC1H11Sep 19, 2022
DYNC2H15Aug 7, 2023
DYSF9Apr 3, 2023
EDA1Aug 29, 2019
EHMT11Mar 14, 2024
EIF2B12Jan 19, 2021
ELOVL41Aug 17, 2017
EPB41L11Sep 23, 2022
EPB41L1-AS11Sep 23, 2022
EPCAM1Nov 19, 2022
EPHA21Sep 7, 2022
EPHB41Sep 14, 2023
ESPN1Mar 2, 2022
ETFA1Aug 1, 2023
ETHE12Jan 3, 2019
EXTL31Mar 21, 2019
EYA11Dec 1, 2023
F81Sep 8, 2022
FA2H2Apr 13, 2024
FAM20C2Oct 24, 2017
FAM83F1Mar 23, 2023
FAN11Jul 2, 2024
FBN12Nov 16, 2022
FBN21May 18, 2018
FBXL31Apr 3, 2023
FBXO71Aug 25, 2017
FGFR22Nov 19, 2022
FGFR32Nov 17, 2022
FHOD31Mar 26, 2024
FKRP1Jul 5, 2017
FLNB1Nov 24, 2020
FLNC2Aug 27, 2019
FLNC-AS12Aug 27, 2019
FN11Aug 1, 2023
FOXG11Mar 5, 2022
FOXP31Nov 2, 2023
FPGT-TNNI3K1Nov 10, 2023
FUCA11Nov 17, 2022
G6PC12Mar 21, 2019
G6PD3Jul 1, 2024
GAA18Jun 1, 2024
GABRB31May 27, 2023
GALC12Jun 3, 2024
GALE1Jan 11, 2023
GALNS26Dec 9, 2023
GATA41May 18, 2020
GBA122Jun 3, 2024
GCDH3Aug 27, 2019
GCH11Jun 20, 2019
GDAP11Jun 18, 2020
GDF31Mar 14, 2024
GDF51Dec 8, 2022
GDF5-AS11Dec 8, 2022
GH-LCR1Apr 1, 2024
GHR2Feb 27, 2024
GJB23Jul 1, 2023
GLA2Oct 21, 2023
GLB118Jul 3, 2023
GLUD11Jul 4, 2023
GLYCTK1May 18, 2024
GM2A2Jan 26, 2017
GNE4Jul 13, 2020
GNPTAB7Dec 9, 2023
GNPTG1Mar 5, 2022
GRIA42Sep 23, 2022
GRM11Mar 12, 2020
GUCY2C1Jul 1, 2024
HBA-LCR1Feb 24, 2022
HBB1Sep 23, 2022
HCN12Dec 22, 2022
HDAC81Oct 30, 2021
HECW22Jan 9, 2024
HEPACAM1Jul 18, 2023
HEXA39Jan 30, 2024
HEXB6Dec 8, 2023
HFE1Oct 15, 2022
HFE-AS11Oct 15, 2022
HGSNAT1May 3, 2017
HMGCL1Jan 21, 2023
HNF4A1Jun 1, 2023
HNRNPA11Apr 22, 2022
HNRNPH11Jun 10, 2023
HNRNPUL2-BSCL21Oct 24, 2017
HSALR11Mar 24, 2023
HSD17B101Dec 9, 2021
HSD3B21Jan 10, 2023
HSPB11Dec 12, 2019
HUWE12Sep 23, 2022
HYDIN2Apr 7, 2023
IBA571Aug 24, 2017
IDS16Jan 26, 2024
IDUA12May 9, 2024
IFITM51Aug 27, 2019
IFT881Jul 3, 2023
IGHMBP22Jul 10, 2023
IL2RG4Jun 18, 2024
INPP5K1Oct 15, 2022
IRF2BPL1Nov 11, 2023
ISCA21Nov 11, 2023
ITGB31Mar 27, 2024
KAT6A1Mar 18, 2023
KCNC31Apr 20, 2021
KCND31Sep 12, 2019
KCNJ11Feb 3, 2020
KCNQ22Dec 16, 2022
KCNQ31Mar 11, 2023
KCNQ51Dec 15, 2022
KCTD71Jul 12, 2018
KDM6A1Dec 16, 2022
KIF141Oct 5, 2023
KIF1A1Oct 19, 2022
KIF1B1Feb 24, 2022
KIF221May 25, 2024
KIF2A1Apr 19, 2018
KLHL411Mar 24, 2023
KMT2C3Dec 15, 2022
KMT5B1Dec 16, 2022
KRIT11Feb 24, 2022
KRT51Sep 7, 2022
L2HGDH2Mar 3, 2022
LAMA23Apr 3, 2023
LAMB21May 15, 2024
LAMB31Jun 1, 2020
LARP71Nov 18, 2022
LDLR1Jul 1, 2024
LINS11Jan 19, 2017
LIPA1Feb 12, 2019
LMAN2L1Oct 14, 2022
LMNA1Dec 21, 2015
LOC1027240581Jan 26, 2018
LOC1060501028Oct 5, 2023
LOC1060990621Sep 23, 2022
LOC10662798121Mar 26, 2024
LOC1067808001Aug 21, 2017
LOC1067998331Oct 19, 2022
LOC1071335101Sep 23, 2022
LOC1082811341Mar 23, 2023
LOC1101215021Mar 18, 2020
LOC1254462611May 25, 2023
LOC1268057931Feb 3, 2020
LOC1268064261May 18, 2018
LOC1268064991Aug 1, 2023
LOC1268612451Jul 10, 2023
LOC1268616641Jan 19, 2021
LOC1268618981May 8, 2023
LOC1268624471Dec 9, 2023
LOC1268625711Aug 1, 2017
LOC1268626531Apr 25, 2023
LOC1268629021Mar 1, 2022
LOC1268632741Jul 7, 2016
LOC1289666231Jun 10, 2023
LOC1299315971Dec 21, 2015
LOC1299340691Sep 11, 2021
LOC1299364344Mar 23, 2023
LOC1299369041Jun 11, 2022
LOC1299925851Nov 19, 2022
LOC1299941262Jan 4, 2023
LOC1300562171Aug 25, 2017
LOC1300576831Nov 16, 2022
LOC1300597622Mar 27, 2023
LOC1300598921Sep 5, 2023
LOC1300609031Nov 2, 2023
LOC1300653451Aug 22, 2022
LOX1Apr 3, 2023
LPAR61Dec 13, 2022
LRFN11Oct 1, 2021
LRP52Sep 18, 2023
LRTOMT1Jul 7, 2017
LTBP41May 25, 2019
LZTR13Jun 16, 2023
MAGEL21Jan 25, 2023
MAST11Aug 14, 2020
MCS+9.71Mar 18, 2020
MECP27May 18, 2023
MED121Dec 9, 2021
MED12L3May 2, 2024
MED131Dec 15, 2022
MED231Apr 26, 2021
MFSD83Mar 24, 2023
MINK11Sep 13, 2022
MINPP11Jan 11, 2024
MLC13May 25, 2023
MLH110Oct 17, 2022
MLH31Apr 14, 2023
MMAA1Jan 28, 2019
MMAB1Jul 2, 2017
MORC21May 18, 2018
MSH24Jul 1, 2024
MSH62Apr 14, 2023
MSTO11Jan 4, 2023
MTHFR2Oct 2, 2020
MTMR21Dec 15, 2022
MTSS21Jun 30, 2023
MUTYH2Jan 25, 2023
MVP-DT1Jun 17, 2020
MYH21Feb 23, 2022
MYH71May 8, 2023
MYH91Jul 7, 2017
MYHAS1Feb 23, 2022
MYO7A3Mar 2, 2023
NAGLU12Jun 1, 2024
NARS22Sep 7, 2022
NDUFAF61Jul 6, 2017
NEB1Nov 17, 2022
NEK81May 2, 2024
NEU11Sep 18, 2023
NEUROG11Oct 20, 2021
NEXMIF1Jun 17, 2020
NF15Dec 22, 2022
NF21May 7, 2020
NGLY11Jul 2, 2024
NIPAL41Aug 17, 2022
NIPBL3Oct 30, 2021
NLGN31Dec 22, 2022
NLRC41Dec 15, 2022
NOTCH31Nov 16, 2022
NPC17Mar 26, 2024
NPC23Oct 5, 2023
NPHP43Sep 24, 2022
NPHS12Nov 17, 2023
NPRL21Sep 11, 2021
NPRL31Feb 24, 2022
NR0B11Oct 5, 2023
NRCAM1Apr 19, 2023
NRROS1Nov 22, 2023
NSD11Feb 22, 2022
OBSL11Feb 24, 2023
OCRL1Mar 11, 2023
OTC3Sep 23, 2022
OTOGL1Aug 17, 2022
OTUD51Nov 24, 2022
P3H12Sep 24, 2022
PACS21Nov 24, 2020
PAFAH1B12Nov 4, 2020
PANK23Aug 22, 2022
PC1Dec 21, 2015
PCARE1Jan 7, 2019
PCCA1Jan 10, 2023
PCDH152Jan 3, 2023
PCNT1Jun 8, 2023
PDE2A2Nov 24, 2023
PDE6B1Mar 23, 2023
PDE6H1May 17, 2021
PDHA11Jan 3, 2019
PGAP12May 14, 2024
PGGHG1Aug 27, 2019
PGM31Sep 28, 2022
PHGDH1May 17, 2021
PHKA22Mar 2, 2023
PHKA2-AS11Sep 11, 2021
PHKB1Apr 6, 2020
PIEZO11Mar 24, 2023
PIGA1Dec 12, 2019
PIGG2Sep 18, 2023
PIK3CD1Jun 27, 2018
PJVK1Nov 11, 2023
PKD13Jul 3, 2024
PKD22Aug 16, 2023
PKHD12May 15, 2024
PLA2G61Dec 30, 2019
PLCE11Jun 12, 2020
PLEC1Apr 3, 2023
PLOD11Dec 15, 2015
PLP12Mar 14, 2023
PMFBP13Sep 11, 2023
POLE1Mar 14, 2023
POLG3Mar 23, 2023
POLGARF3Mar 23, 2023
POLR1C1Jun 10, 2023
POLR2F1Nov 24, 2020
POMGNT21Mar 18, 2023
POP11Sep 7, 2022
POU1F11Jun 19, 2019
PPT14May 6, 2016
PRF11Jul 13, 2018
PRKN1Feb 5, 2020
PROC1Dec 12, 2019
PRRT21Jun 17, 2020
PRX1Oct 15, 2022
PSAP4Jun 1, 2024
PSEN12Sep 12, 2019
PTH1R1Jun 19, 2020
PTS2Apr 9, 2024
QRICH11May 8, 2023
QRICH21Jul 1, 2023
RAB27A1Sep 11, 2018
RAB9B2Mar 14, 2023
RAD54L1Mar 20, 2023
RAG12Sep 27, 2022
RAPSN1Nov 17, 2022
RARS11Mar 24, 2023
RB11Dec 13, 2022
RBM201May 14, 2024
RBM51Jul 1, 2023
REEP31Mar 2, 2024
RET2Mar 18, 2020
RFX71Nov 11, 2023
RFXANK1May 8, 2023
RMND11Mar 6, 2024
RNASEH2C1Sep 17, 2022
RNF2131Sep 17, 2022
RNF213-AS11Sep 17, 2022
RORA1Apr 22, 2022
RORA-AS11Apr 22, 2022
RORB1Dec 9, 2021
RPE652May 17, 2021
RPGR1Aug 18, 2022
RPGRIP11Dec 15, 2022
RPL101Mar 12, 2020
RPL36A-HNRNPH22Oct 21, 2023
RPL51Mar 21, 2019
RPS191Oct 26, 2018
RTEL11Jun 10, 2020
RTEL1-TNFRSF6B1Jun 10, 2020
RYR13Oct 15, 2022
SALL11Jul 1, 2023
SCAPER1Nov 18, 2022
SCN1A5Feb 20, 2024
SCN1A-AS11Jun 19, 2019
SCN2A4Dec 28, 2022
SCN4A1Apr 1, 2024
SCN9A1Jun 19, 2019
SCNN1B1Jan 31, 2018
SCYL21Mar 23, 2023
SERAC11Jul 5, 2017
SERPINF13Sep 5, 2023
SERPINH11May 30, 2018
SETBP11Jun 8, 2023
SETD1A2Mar 29, 2024
SETD1B2Jan 21, 2023
SETD21Mar 2, 2024
SGCA1Sep 7, 2022
SGCB2Nov 19, 2022
SGSH9Jul 28, 2023
SH2D1A1Jul 12, 2018
SHOX1Apr 15, 2023
SLC17A52Mar 22, 2023
SLC17A81Jun 30, 2020
SLC26A12Jul 1, 2023
SLC26A41Sep 7, 2022
SLC2A21Apr 15, 2023
SLC37A41Feb 23, 2022
SLC6A191Feb 24, 2022
SLC6A41Oct 19, 2021
SLC9A71Oct 19, 2021
SLC9A91Sep 12, 2023
SMARCA41Mar 20, 2019
SMC1A1Mar 18, 2019
SMPD115Jul 1, 2024
SNCA1Nov 23, 2023
SNHG141Mar 24, 2023
SNHG312Dec 19, 2022
SON2Jul 1, 2024
SOS11Aug 30, 2022
SOS21Apr 22, 2022
SOX101Nov 24, 2020
SOX31Mar 23, 2023
SOX301Jul 20, 2023
SPAST1Aug 28, 2018
SPATA221Jul 18, 2018
SPATA71Jan 29, 2024
SPG117Mar 2, 2024
SPR1Sep 11, 2021
SPTB1Sep 29, 2020
SPTBN22Dec 13, 2022
SRCAP2Mar 29, 2024
SRD5A21Aug 22, 2022
SRD5A31Feb 17, 2024
SRFBP11Apr 3, 2023
STAG11Sep 26, 2022
STK111Apr 22, 2022
STXBP11Dec 5, 2022
SUCLG12Oct 15, 2022
SUMF11Dec 23, 2021
SUPT16H1Jul 8, 2023
SURF11Jan 10, 2019
SYNE11Feb 24, 2022
SYNGAP11Jul 15, 2017
SYNJ11Aug 14, 2020
SZT21Jan 16, 2018
TAFAZZIN1Aug 25, 2017
TAOK11May 19, 2023
TAOK21Sep 24, 2022
TBL1XR11Oct 19, 2021
TBR12Jun 8, 2023
TCF201Sep 23, 2022
TCF41Dec 15, 2022
TCF7L21Jun 19, 2024
TCOF13Dec 23, 2022
TENT5A1Jan 31, 2023
TGM13Nov 15, 2022
THAP11Mar 11, 2020
TMEM1381Sep 25, 2020
TMPPE4Mar 23, 2023
TNNI31Jun 30, 2018
TNNI3K1Nov 10, 2023
TNNT32Mar 14, 2024
TNPO31Nov 17, 2022
TNRC6B3Jun 1, 2024
TNXB1Jan 2, 2020
TOMT1Jul 7, 2017
TOP2B1Oct 20, 2021
TOR1A1Mar 24, 2023
TP632Mar 22, 2023
TPO1Aug 22, 2022
TPP113Apr 17, 2023
TPRN1Apr 13, 2024
TRAPPC2L2Mar 27, 2023
TRIO4Jul 8, 2023
TRIP111Nov 17, 2022
TRIP41Nov 24, 2022
TRMT10A1Dec 13, 2022
TRPS11Jan 25, 2023
TRPS1-AS11Jan 25, 2023
TSC22Jul 17, 2023
TSTD31Jul 31, 2020
TTN3Dec 7, 2022
TTN-AS13Dec 7, 2022
TUBB2B2Dec 17, 2018
TUBGCP63Sep 2, 2022
TULP11Dec 15, 2022
TYR6Sep 12, 2019
UBE3A1Mar 24, 2023
UGP21Aug 4, 2022
UGT1A1Mar 4, 2019
UGT1A11Mar 4, 2019
UGT1A101Mar 4, 2019
UGT1A31Mar 4, 2019
UGT1A41Mar 4, 2019
UGT1A51Mar 4, 2019
UGT1A61Mar 4, 2019
UGT1A71Mar 4, 2019
UGT1A81Mar 4, 2019
UGT1A91Mar 4, 2019
UMOD1Feb 24, 2022
UNC791Dec 6, 2021
USH2A4Sep 28, 2022
USH2A-AS21Sep 28, 2022
USP451Jul 31, 2020
USP9X1Feb 22, 2022
VPS13A1Mar 11, 2020
VPS13B1Dec 6, 2022
VPS161Dec 19, 2022
WAS1Mar 11, 2020
WDFY31Nov 19, 2022
WT11Jan 4, 2019
XPA1Jan 19, 2017
XPC1Feb 4, 2016
YY11Oct 19, 2022
ZEB21Sep 23, 2022
ZIC31Sep 26, 2022
ZMIZ11Sep 28, 2022
ZNF1421Mar 30, 2024
ZNF2922Apr 15, 2023
ZNF4621Aug 23, 2022
ZPBP1Jul 20, 2023
ZSWIM61Feb 5, 2020

Condition

NameSubmissionsLast Updated
15q11q13 microduplication syndrome1Jul 2, 2024
3 beta-Hydroxysteroid dehydrogenase deficiency1Jan 10, 2023
3-Methylglutaconic aciduria type 21Aug 25, 2017
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1Aug 22, 2022
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1Jul 5, 2017
3M syndrome 11Jul 13, 2020
3M syndrome 21Feb 24, 2023
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency2Apr 9, 2024
ADULT syndrome2Mar 22, 2023
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Jun 3, 2024
Abnormal sperm morphology2Mar 23, 2023
Achondrogenesis, type IA1Nov 17, 2022
Achromatopsia 31Feb 5, 2020
Acrocephalosyndactyly type I1Nov 19, 2022
Actin accumulation myopathy1Jan 19, 2017
Adrenoleukodystrophy2Aug 14, 2020
Aicardi-Goutieres syndrome 31Sep 17, 2022
Aldosterone-producing adenoma with seizures and neurological abnormalities1Jun 11, 2022
Alstrom syndrome2Apr 23, 2022
Alzheimer disease 32Sep 12, 2019
Alzheimer disease type 11Mar 3, 2022
Amyotrophic lateral sclerosis type 2, juvenile1Dec 17, 2018
Anauxetic dysplasia 21Sep 7, 2022
Androgen resistance syndrome1Aug 27, 2020
Anemia, nonspherocytic hemolytic, due to G6PD deficiency3Jul 1, 2024
Angelman syndrome1Mar 24, 2023
Anterior segment dysgenesis 61Nov 17, 2023
Aortic aneurysm, familial thoracic 101Apr 3, 2023
Arginase deficiency1Apr 26, 2021
Argininosuccinate lyase deficiency1Jun 19, 2020
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum1Mar 23, 2023
Arthrogryposis multiplex congenita 51Mar 24, 2023
Arthrogryposis multiplex congenita 61Nov 17, 2022
Arthrogryposis, distal, type 2B22Mar 14, 2024
Asphyxiating thoracic dystrophy 35Aug 7, 2023
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1Jun 26, 2019
Ataxia-telangiectasia syndrome4Jan 9, 2024
Atelosteogenesis type III1Nov 24, 2020
Atrial conduction disease1Nov 10, 2023
Attention deficit-hyperactivity disorder 81Sep 12, 2023
Atypical hemolytic-uremic syndrome with C3 anomaly1Aug 1, 2023
Autism1Sep 24, 2022
Autism and apraxia1Jan 12, 2024
Autism spectrum disorder1Dec 6, 2021
Autism spectrum disorder due to AUTS2 deficiency1Dec 15, 2022
Autism, susceptibility to, 152Dec 17, 2022
Autism, susceptibility to, 161Sep 12, 2023
Autism, susceptibility to, 52Jun 8, 2023
Autism, susceptibility to, X-linked 11Dec 22, 2022
Autism, susceptibility to, X-linked 31Mar 3, 2022
Autosomal dominant Parkinson disease 11Nov 23, 2023
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1Sep 19, 2022
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Mar 18, 2023
Autosomal dominant limb-girdle muscular dystrophy type 1F1Nov 17, 2022
Autosomal dominant nonsyndromic hearing loss 111Aug 17, 2022
Autosomal dominant nonsyndromic hearing loss 131Sep 7, 2022
Autosomal dominant nonsyndromic hearing loss 251Jun 30, 2020
Autosomal recessive Parkinson disease 141Dec 30, 2019
Autosomal recessive congenital ichthyosis 13Nov 15, 2022
Autosomal recessive congenital ichthyosis 4A2Aug 27, 2018
Autosomal recessive congenital ichthyosis 4B2Dec 19, 2022
Autosomal recessive congenital ichthyosis 61Aug 17, 2022
Autosomal recessive juvenile Parkinson disease 21Feb 5, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2A7Nov 16, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2B9Apr 3, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2D1Sep 7, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2E2Nov 19, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2J1Aug 9, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2Q1Apr 3, 2023
Autosomal recessive nonsyndromic hearing loss 122Nov 16, 2022
Autosomal recessive nonsyndromic hearing loss 1A3Jul 1, 2023
Autosomal recessive nonsyndromic hearing loss 21Feb 23, 2022
Autosomal recessive nonsyndromic hearing loss 231Jan 3, 2023
Autosomal recessive nonsyndromic hearing loss 361Mar 2, 2022
Autosomal recessive nonsyndromic hearing loss 41Sep 7, 2022
Autosomal recessive nonsyndromic hearing loss 481Nov 16, 2022
Autosomal recessive nonsyndromic hearing loss 591Nov 11, 2023
Autosomal recessive nonsyndromic hearing loss 631Jul 7, 2017
Autosomal recessive nonsyndromic hearing loss 661Mar 2, 2022
Autosomal recessive nonsyndromic hearing loss 791Apr 13, 2024
Autosomal recessive nonsyndromic hearing loss 84B1Aug 17, 2022
Autosomal recessive osteopetrosis 42Jun 30, 2018
Autosomal recessive pseudohypoaldosteronism type 11Jan 31, 2018
Autosomal recessive spinocerebellar ataxia 131Mar 12, 2020
Autosomal recessive spinocerebellar ataxia 71Feb 28, 2019
Baraitser-Winter syndrome 11Feb 17, 2024
Baraitser-winter syndrome 21Nov 16, 2022
Bardet-Biedl syndrome 102Jan 21, 2023
Bartter disease type 21Feb 3, 2020
Becker muscular dystrophy2May 2, 2024
Benign recurrent intrahepatic cholestasis type 24Mar 27, 2024
Bethlem myopathy 1A3Sep 15, 2021
Bilateral frontoparietal polymicrogyria2Jan 25, 2019
Blepharophimosis - intellectual disability syndrome, MKB type1Dec 9, 2021
Brain small vessel disease 1 with or without ocular anomalies1Nov 17, 2022
Branchiootorenal syndrome 11Dec 1, 2023
Breast-ovarian cancer, familial, susceptibility to, 13Apr 23, 2024
Breast-ovarian cancer, familial, susceptibility to, 22Dec 19, 2022
Capillary malformation-arteriovenous malformation 21Sep 14, 2023
Cardiofaciocutaneous syndrome 12May 18, 2023
Cardiomyopathy, familial hypertrophic, 281Mar 26, 2024
Cataract 6 multiple types1Sep 7, 2022
Central core myopathy3Oct 15, 2022
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 31Sep 10, 2018
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11Nov 16, 2022
Cerebral cavernous malformation1Feb 24, 2022
Ceroid lipofuscinosis, neuronal, 6A2Apr 17, 2023
Charcot-Marie-Tooth disease axonal type 2F1Dec 12, 2019
Charcot-Marie-Tooth disease axonal type 2K1Jun 18, 2020
Charcot-Marie-Tooth disease axonal type 2S2Jul 10, 2023
Charcot-Marie-Tooth disease axonal type 2X2Mar 2, 2024
Charcot-Marie-Tooth disease axonal type 2Z1May 18, 2018
Charcot-Marie-Tooth disease recessive intermediate A1Jun 18, 2020
Charcot-Marie-Tooth disease type 2A11Feb 24, 2022
Charcot-Marie-Tooth disease type 4A1Jun 18, 2020
Charcot-Marie-Tooth disease type 4B11Dec 15, 2022
Chopra-Amiel-Gordon syndrome2Jul 8, 2023
Chorea-acanthocytosis1Mar 11, 2020
Chromosome 15q11.2 deletion syndrome1Nov 4, 2020
Ciliary dyskinesia, primary, 402Apr 7, 2023
Citrullinemia type I1Jul 24, 2018
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1Aug 21, 2017
Coffin-Siris syndrome 11Mar 20, 2019
Coffin-Siris syndrome 121Feb 21, 2023
Coffin-Siris syndrome 62Feb 24, 2023
Cohen syndrome1Dec 6, 2022
Colorectal cancer, hereditary nonpolyposis, type 210Oct 17, 2022
Colorectal cancer, hereditary nonpolyposis, type 71Apr 14, 2023
Combined PSAP deficiency1Oct 13, 2022
Combined immunodeficiency, X-linked2Jun 18, 2024
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21Sep 14, 2022
Combined oxidative phosphorylation defect type 111Mar 6, 2024
Combined oxidative phosphorylation defect type 242Sep 7, 2022
Complex cortical dysplasia with other brain malformations 31Apr 19, 2018
Complex cortical dysplasia with other brain malformations 72Dec 17, 2018
Congenital adrenal hypoplasia, X-linked1Oct 5, 2023
Congenital contractural arachnodactyly1May 18, 2018
Congenital diarrhea 61Jul 1, 2024
Congenital disorder of deglycosylation 11Jul 2, 2024
Congenital heart defects and skeletal malformations syndrome1Nov 3, 2023
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Jun 30, 2018
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome1Aug 17, 2017
Congenital muscular dystrophy due to LMNA mutation1Dec 21, 2015
Congenital muscular dystrophy with cataracts and intellectual disability1Oct 15, 2022
Congenital muscular hypertrophy-cerebral syndrome1Mar 18, 2019
Congenital myasthenic syndrome 103Dec 7, 2022
Congenital myasthenic syndrome 3A1Feb 24, 2022
Congenital myasthenic syndrome 4A2Sep 13, 2022
Congenital myasthenic syndrome 4B1Mar 3, 2022
Congenital myasthenic syndrome 4C1Mar 3, 2022
Congenital myasthenic syndrome 81Jun 25, 2018
Cornelia de Lange syndrome 13Oct 30, 2021
Cornelia de Lange syndrome 51Oct 30, 2021
Crigler-Najjar syndrome type 11Mar 4, 2019
Crouzon syndrome1Aug 26, 2019
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1May 25, 2019
Cystic fibrosis3Mar 30, 2020
D-66181Aug 4, 2022
D-Glyceric aciduria1May 18, 2024
Deficiency of acetyl-CoA acetyltransferase1Sep 14, 2017
Deficiency of hydroxymethylglutaryl-CoA lyase1Jan 21, 2023
Deficiency of iodide peroxidase1Aug 22, 2022
Deficiency of steroid 11-beta-monooxygenase1Oct 19, 2022
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema1Mar 24, 2023
Dejerine-Sottas disease1Oct 15, 2022
Desmin-related myofibrillar myopathy1May 14, 2024
Desmoid disease, hereditary1Nov 19, 2022
Developmental and epileptic encephalopathy 941Sep 24, 2022
Developmental and epileptic encephalopathy, 114Dec 28, 2022
Developmental and epileptic encephalopathy, 181Jan 16, 2018
Developmental and epileptic encephalopathy, 241Mar 2, 2022
Developmental and epileptic encephalopathy, 41Dec 5, 2022
Developmental and epileptic encephalopathy, 424Oct 5, 2023
Developmental and epileptic encephalopathy, 431May 27, 2023
Developmental and epileptic encephalopathy, 531Aug 14, 2020
Developmental and epileptic encephalopathy, 661Nov 24, 2020
Developmental and epileptic encephalopathy, 671Jul 17, 2023
Developmental and epileptic encephalopathy, 691Feb 23, 2022
Developmental and epileptic encephalopathy, 72Dec 16, 2022
Developmental and epileptic encephalopathy, 831Sep 6, 2022
Developmental delay with or without intellectual impairment or behavioral abnormalities1May 19, 2023
Developmental delay with variable intellectual impairment and behavioral abnormalities1Sep 23, 2022
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1Mar 29, 2024
Diamond-Blackfan anemia 12Mar 21, 2019
Dias-Logan syndrome1Jul 24, 2023
Dilated cardiomyopathy 1DD1May 14, 2024
Dilated cardiomyopathy 2A1Jun 30, 2018
Distal myopathy with posterior leg and anterior hand involvement1Aug 27, 2019
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Sep 11, 2021
Duchenne muscular dystrophy7Sep 7, 2022
Dyskeratosis congenita, autosomal recessive 51Jun 10, 2020
Dyskinesia with orofacial involvement, autosomal dominant1Jun 1, 2020
Dystonia 301Dec 19, 2022
Early-onset myopathy with fatal cardiomyopathy1Dec 7, 2022
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31Mar 22, 2023
Ehlers-Danlos syndrome due to tenascin-X deficiency1Jan 2, 2020
Ehlers-Danlos syndrome progeroid type1Aug 14, 2020
Ehlers-Danlos syndrome, classic type, 11Sep 19, 2022
Ehlers-Danlos syndrome, kyphoscoliotic type 11Dec 15, 2015
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1Feb 24, 2022
Epidermolysis bullosa pruriginosa1Nov 16, 2022
Epidermolysis bullosa simplex 2B, generalized intermediate1Sep 7, 2022
Epilepsy, familial focal, with variable foci 13May 8, 2023
Epilepsy, familial focal, with variable foci 21Sep 11, 2021
Epilepsy, familial focal, with variable foci 31Feb 24, 2022
Epilepsy, idiopathic generalized, susceptibility to, 111Oct 19, 2021
Epilepsy, idiopathic generalized, susceptibility to, 151Dec 9, 2021
Episodic ataxia type 21Apr 16, 2020
Ethylmalonic encephalopathy2Jan 3, 2019
Exudative vitreoretinopathy 41Jun 20, 2019
Fabry disease2Oct 21, 2023
Familial adenomatous polyposis 12Apr 14, 2023
Familial adenomatous polyposis 22Jan 25, 2023
Familial cancer of breast5Feb 17, 2024
Familial cold autoinflammatory syndrome 41Dec 15, 2022
Familial hemophagocytic lymphohistiocytosis 21Jul 13, 2018
Familial juvenile hyperuricemic nephropathy type 11Feb 24, 2022
Fanconi-Bickel syndrome1Apr 15, 2023
Fetal akinesia deformation sequence 21Nov 17, 2022
Fetal akinesia deformation sequence 31Dec 7, 2022
Finnish congenital nephrotic syndrome2Nov 17, 2023
Floating-Harbor syndrome1Oct 15, 2022
Frasier syndrome1Jan 4, 2019
Frontotemporal dementia1Sep 12, 2019
Fucosidosis1Nov 17, 2022
GM1 gangliosidosis type 22Aug 26, 2019
GNE myopathy4Jul 13, 2020
GNPTG-mucolipidosis1Mar 5, 2022
GTP cyclohydrolase I deficiency1Jun 20, 2019
Gabriele de Vries syndrome1Oct 19, 2022
Galactosylceramide beta-galactosidase deficiency12Jun 3, 2024
Gaucher disease type I19Jun 3, 2024
Gaucher disease type II2Jul 17, 2018
Gaucher disease type III1Jan 23, 2017
Geleophysic dysplasia 11May 17, 2018
Generalized epilepsy with febrile seizures plus, type 102Dec 22, 2022
Generalized epilepsy with febrile seizures plus, type 22Feb 20, 2024
Generalized epilepsy with febrile seizures plus, type 71Jun 19, 2019
Glanzmann thrombasthenia 21Mar 27, 2024
Global developmental delay with speech and behavioral abnormalities3Jun 1, 2024
Glomerulopathy with fibronectin deposits 21Aug 1, 2023
Glucocorticoid deficiency with achalasia1Mar 20, 2019
Glucose-6-phosphate transport defect1Feb 23, 2022
Glutaric aciduria, type 13Aug 27, 2019
Glycogen storage disease IXa12Mar 2, 2023
Glycogen storage disease IXb1Apr 6, 2020
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2Mar 21, 2019
Glycogen storage disease, type II18Jun 1, 2024
Grebe syndrome1Dec 8, 2022
Griscelli syndrome type 21Sep 11, 2018
HSD10 mitochondrial disease1Dec 9, 2021
Hearing loss, autosomal dominant 712Nov 11, 2023
Hearing loss, autosomal recessive 1121Nov 17, 2022
Hearing loss, autosomal recessive 941Jun 30, 2020
Hemochromatosis type 11Oct 15, 2022
Hereditary diffuse gastric adenocarcinoma1Feb 5, 2020
Hereditary factor VIII deficiency disease1Sep 8, 2022
Hereditary nonpolyposis colorectal carcinoma1Feb 25, 2022
Hereditary spastic paraplegia 115Mar 27, 2023
Hereditary spastic paraplegia 171Oct 24, 2017
Hereditary spastic paraplegia 21Aug 2, 2017
Hereditary spastic paraplegia 282Feb 25, 2022
Hereditary spastic paraplegia 352Apr 13, 2024
Hereditary spastic paraplegia 41Aug 28, 2018
Hereditary spastic paraplegia 471Sep 7, 2022
Hereditary spastic paraplegia 631Sep 7, 2022
Hereditary spastic paraplegia 731Aug 22, 2023
Hereditary spherocytosis type 21Sep 29, 2020
Heterotaxy, visceral, 1, X-linked1Sep 26, 2022
Hirschsprung disease, susceptibility to, 11Mar 18, 2020
Histiocytic medullary reticulosis2Sep 27, 2022
Homocystinuria due to methylene tetrahydrofolate reductase deficiency2Oct 2, 2020
Hurler syndrome10May 9, 2024
Hydrocephalus, nonsyndromic, autosomal recessive 12May 30, 2020
Hypercholesterolemia, familial, 11Jul 1, 2024
Hyperinsulinemic hypoglycemia, familial, 12Nov 17, 2022
Hyperinsulinism-hyperammonemia syndrome1Jul 4, 2023
Hyperprolinemia type 22Dec 28, 2022
Hypertrophic cardiomyopathy 11May 8, 2023
Hypertrophic cardiomyopathy 261Sep 14, 2017
Hypochondroplasia1Nov 17, 2022
Hypohidrotic X-linked ectodermal dysplasia1Aug 29, 2019
Hypokalemic periodic paralysis, type 11Jun 28, 2018
Hypokalemic periodic paralysis, type 21Apr 1, 2024
Hypomyelinating leukodystrophy 111Jun 10, 2023
Hypomyelinating leukodystrophy 91Mar 24, 2023
Hypospadias 1, X-linked1May 18, 2018
Hypotrichosis 81Dec 13, 2022
Immunodeficiency 141Jun 27, 2018
Immunodeficiency 231Sep 28, 2022
Immunodeficiency, common variable, 72Feb 24, 2022
Immunoskeletal dysplasia with neurodevelopmental abnormalities1Mar 21, 2019
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 31Apr 22, 2022
Infantile GM1 gangliosidosis16Jul 3, 2023
Infantile cortical hyperostosis1Sep 7, 2022
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1Nov 2, 2023
Intellectual developmental disorder 611Dec 15, 2022
Intellectual developmental disorder and retinitis pigmentosa; IDDRP1Nov 18, 2022
Intellectual developmental disorder with ocular anomalies and distinctive facial features1Jun 30, 2023
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Apr 22, 2022
Intellectual developmental disorder with paroxysmal dyskinesia or seizures2Nov 24, 2023
Intellectual developmental disorder with seizures and language delay2Jan 21, 2023
Intellectual developmental disorder, X-linked 1081Oct 19, 2021
Intellectual developmental disorder, autosomal dominant 642Apr 15, 2023
Intellectual developmental disorder, autosomal dominant 702Mar 2, 2024
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities1Nov 11, 2023
Intellectual disability, X-linked 991Feb 22, 2022
Intellectual disability, X-linked syndromic, Turner type2Sep 23, 2022
Intellectual disability, X-linked, syndromic, 351Mar 12, 2020
Intellectual disability, autosomal dominant 111Sep 23, 2022
Intellectual disability, autosomal dominant 141Jun 3, 2020
Intellectual disability, autosomal dominant 241Feb 25, 2022
Intellectual disability, autosomal dominant 291Jun 8, 2023
Intellectual disability, autosomal dominant 411Oct 19, 2021
Intellectual disability, autosomal dominant 453Jan 29, 2024
Intellectual disability, autosomal dominant 461Dec 15, 2022
Intellectual disability, autosomal dominant 471Sep 26, 2022
Intellectual disability, autosomal dominant 511Dec 16, 2022
Intellectual disability, autosomal dominant 531Dec 15, 2022
Intellectual disability, autosomal dominant 91Oct 19, 2022
Intellectual disability, autosomal recessive 271Jan 19, 2017
Intellectual disability, autosomal recessive 422May 14, 2024
Intellectual disability, autosomal recessive 51Jul 15, 2017
Intellectual disability, autosomal recessive 521Oct 14, 2022
Intellectual disability, autosomal recessive 532Sep 18, 2023
Intellectual disability-epilepsy-extrapyramidal syndrome1Feb 25, 2022
Intellectual disability-hypotonic facies syndrome, X-linked, 11Mar 1, 2022
Interstitial lung disease due to ABCA3 deficiency1Aug 14, 2020
Joubert syndrome 161Sep 25, 2020
Joubert syndrome 81May 8, 2024
Junctional epidermolysis bullosa gravis of Herlitz1Jun 1, 2020
Junctional epidermolysis bullosa, non-Herlitz type1Jun 1, 2020
Juvenile polyposis syndrome1Mar 3, 2022
KBG syndrome2Feb 24, 2022
Kabuki syndrome 21Dec 16, 2022
Kahrizi syndrome1Feb 17, 2024
Karyomegalic interstitial nephritis1Jul 2, 2024
Kleefstra syndrome 11Mar 14, 2024
Kleefstra syndrome 23Dec 15, 2022
Klippel-Feil syndrome 3, autosomal dominant1Mar 14, 2024
Kufor-Rakeb syndrome1Sep 12, 2019
L-2-hydroxyglutaric aciduria2Mar 3, 2022
LRFN11Oct 1, 2021
Langer mesomelic dysplasia syndrome1Apr 15, 2023
Laron-type isolated somatotropin defect2Feb 27, 2024
Larsen syndrome1Nov 24, 2020
Leber congenital amaurosis 151Dec 15, 2022
Leber congenital amaurosis 191Jul 31, 2020
Leber congenital amaurosis 21Aug 25, 2020
Leber congenital amaurosis 61Dec 15, 2022
Leigh syndrome2Jan 10, 2019
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome1Oct 5, 2023
Lethal osteosclerotic bone dysplasia2Oct 24, 2017
Leukodystrophy, hypomyelinating, 221Jan 9, 2024
Lissencephaly due to LIS1 mutation1Jun 11, 2018
Lowe syndrome1Mar 11, 2023
Lynch syndrome 14Jul 1, 2024
Lynch syndrome 52Apr 14, 2023
Lynch syndrome 81Nov 19, 2022
Lysosomal acid lipase deficiency1Feb 12, 2019
MHC class II deficiency1May 8, 2023
Malignant tumor of esophagus1Aug 17, 2022
Marfan syndrome1Feb 1, 2020
Maturity-onset diabetes of the young type 11Jun 1, 2023
Meckel syndrome, type 41Jun 30, 2018
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1Aug 14, 2020
Megaconial type congenital muscular dystrophy1Jul 10, 2017
Megalencephalic leukoencephalopathy with subcortical cysts 13May 25, 2023
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability1Jul 18, 2023
Menke-Hennekam syndrome 13Jan 10, 2023
Menkes kinky-hair syndrome2May 18, 2024
Merosin deficient congenital muscular dystrophy2Sep 12, 2019
Metachromatic leukodystrophy11Mar 26, 2024
Metaphyseal chondrodysplasia, Jansen type1Jun 19, 2020
Methylmalonic aciduria, cblA type1Jan 28, 2019
Methylmalonic aciduria, cblB type1Jul 2, 2017
Microcephalic osteodysplastic primordial dwarfism type II1Jun 8, 2023
Microcephalic primordial dwarfism, Alazami type1Nov 18, 2022
Microcephaly 18, primary, autosomal dominant1Nov 19, 2022
Microcephaly 5, primary, autosomal recessive1Dec 12, 2019
Microcephaly and chorioretinopathy 13Sep 2, 2022
Microcephaly, short stature, and impaired glucose metabolism 11Dec 13, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome4Jul 8, 2023
Mitochondrial DNA depletion syndrome 4b2Mar 23, 2023
Mitochondrial DNA depletion syndrome 92Oct 15, 2022
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome1Jan 4, 2023
Mowat-Wilson syndrome1Sep 23, 2022
Moyamoya disease 21Sep 17, 2022
Mucolipidosis type II7Dec 9, 2023
Mucopolysaccharidosis type 67Oct 5, 2023
Mucopolysaccharidosis, MPS-I-S1Jun 30, 2023
Mucopolysaccharidosis, MPS-II16Jan 26, 2024
Mucopolysaccharidosis, MPS-III-A9Jul 28, 2023
Mucopolysaccharidosis, MPS-III-B12Jun 1, 2024
Mucopolysaccharidosis, MPS-III-C1May 3, 2017
Mucopolysaccharidosis, MPS-IV-A27Dec 9, 2023
Multiple acyl-CoA dehydrogenase deficiency1Aug 1, 2023
Multiple congenital anomalies-hypotonia-seizures syndrome 21Dec 12, 2019
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked1Nov 24, 2022
Multiple endocrine neoplasia type 2A1Aug 21, 2017
Multiple epiphyseal dysplasia type 11Jun 3, 2023
Multiple mitochondrial dysfunctions syndrome 31Aug 24, 2017
Multiple mitochondrial dysfunctions syndrome 41Nov 11, 2023
Multiple sulfatase deficiency1Dec 23, 2021
Muscular dystrophy, limb-girdle, autosomal dominant 41Jan 25, 2023
Muscular dystrophy, limb-girdle, autosomal recessive 232Apr 3, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41Jul 5, 2017
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 81Mar 18, 2023
Myofibrillar myopathy 51Aug 27, 2019
Myopathy, congenital, with structured cores and z-line abnormalities1Dec 13, 2022
Myopathy, proximal, and ophthalmoplegia1Feb 23, 2022
Nemaline myopathy 91Mar 24, 2023
Nephronophthisis 43Sep 24, 2022
Nephronophthisis 91May 2, 2024
Nephrotic syndrome, type 31Jun 12, 2020
Neu-Laxova syndrome 11May 17, 2021
Neurodegeneration with brain iron accumulation 44Sep 14, 2023
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures2Jun 18, 2024
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects1Jun 10, 2023
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies1Sep 28, 2022
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum1Jul 8, 2023
Neurodevelopmental disorder with hypotonia, seizures, and absent language2Jan 9, 2024
Neurodevelopmental disorder with impaired speech and hyperkinetic movements1Mar 30, 2024
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features1Feb 5, 2020
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities1Apr 19, 2023
Neurodevelopmental disorder with or without seizures and gait abnormalities2Sep 23, 2022
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Nov 11, 2023
Neurodevelopmental disorder with speech impairment and dysmorphic facies2Mar 29, 2024
Neurofibromatosis, type 15Dec 22, 2022
Neurofibromatosis, type 21May 7, 2020
Neuronal ceroid lipofuscinosis 14May 6, 2016
Neuronal ceroid lipofuscinosis 213Apr 17, 2023
Neuronal ceroid lipofuscinosis 51Apr 3, 2023
Neuronal ceroid lipofuscinosis 73Mar 24, 2023
Neutral 1 amino acid transport defect1Feb 24, 2022
Niemann-Pick disease, type A14Jul 1, 2024
Niemann-Pick disease, type B5Jan 25, 2024
Niemann-Pick disease, type C16Mar 26, 2024
Niemann-Pick disease, type C24Oct 5, 2023
Nizon-Isidor syndrome3May 2, 2024
Noonan syndrome 102Jun 16, 2023
Noonan syndrome 41Aug 30, 2022
Noonan syndrome 91Apr 22, 2022
Obsessive-compulsive disorder1Oct 19, 2021
Oculocutaneous albinism type 1B2Sep 12, 2019
Oculofaciocardiodental syndrome1Jun 3, 2024
Oligospermia2Mar 23, 2023
Ornithine carbamoyltransferase deficiency3Sep 23, 2022
Osteogenesis imperfecta type 101May 30, 2018
Osteogenesis imperfecta type 132Nov 24, 2022
Osteogenesis imperfecta type 51Aug 27, 2019
Osteogenesis imperfecta type 63Sep 5, 2023
Osteogenesis imperfecta type 82Sep 24, 2022
Osteogenesis imperfecta type I1Jan 3, 2019
Osteogenesis imperfecta, perinatal lethal1Apr 22, 2024
Osteogenesis imperfecta, type 181Jan 31, 2023
Osteoporosis with pseudoglioma1Sep 18, 2023
PCWH syndrome1Nov 24, 2020
Parenti-mignot neurodevelopmental syndrome1Jun 18, 2024
Parkinsonian-pyramidal syndrome1Aug 25, 2017
Partial androgen insensitivity syndrome1Jul 1, 2023
Pelizaeus-Merzbacher disease1Mar 14, 2023
Peutz-Jeghers syndrome1Apr 22, 2022
Phelan-McDermid syndrome1Dec 13, 2022
Pierpont syndrome1Oct 19, 2021
Pierson syndrome1May 15, 2024
Pigmentary pallidal degeneration3Aug 22, 2022
Pilarowski-Bjornsson syndrome2May 2, 2024
Pitt-Hopkins syndrome1Dec 15, 2022
Pituitary hormone deficiency, combined, 11Jun 19, 2019
Polycystic kidney disease 22Aug 16, 2023
Polycystic kidney disease 42May 15, 2024
Polycystic kidney disease, adult type3Jul 3, 2024
Polymerase proofreading-related adenomatous polyposis1Mar 14, 2023
Polyposis syndrome, hereditary mixed, 21Mar 3, 2022
Pontocerebellar hypoplasia, type 161Jan 11, 2024
Porphobilinogen synthase deficiency1Jul 17, 2018
Primary ciliary dyskinesia 52Apr 7, 2023
Progeroid and marfanoid aspect-lipodystrophy syndrome1Nov 16, 2022
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11Nov 16, 2022
Progressive myoclonic epilepsy type 31Jul 12, 2018
Propionic acidemia1Jan 10, 2023
Pyridoxine-dependent epilepsy1Dec 15, 2022
Pyruvate carboxylase deficiency1Dec 21, 2015
Pyruvate dehydrogenase E1-alpha deficiency1Jan 3, 2019
Recessive dystrophic epidermolysis bullosa3Mar 2, 2023
Reduced sperm motility1Mar 23, 2023
Renal cysts and diabetes syndrome1May 18, 2020
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss1May 15, 2024
Retinal cone dystrophy 3A1May 17, 2021
Retinitis pigmentosa 202May 17, 2021
Retinitis pigmentosa 391Sep 28, 2022
Retinitis pigmentosa 401Mar 23, 2023
Retinitis pigmentosa 541Jan 7, 2019
Rett syndrome4May 18, 2023
Rett syndrome, congenital variant1Mar 5, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations1May 14, 2024
Salla disease1Aug 2, 2017
Sandhoff disease6Dec 8, 2023
Schaaf-Yang syndrome1Jan 25, 2023
Schwannomatosis 21Sep 11, 2021
See cases9Feb 5, 2024
Seizures, benign familial infantile, 21Jun 17, 2020
Seizures, benign familial neonatal, 11Mar 11, 2020
Seizures, benign familial neonatal, 21Mar 11, 2023
Seizures, early-onset, with neurodegeneration and brain calcifications1Nov 22, 2023
Severe early-childhood-onset retinal dystrophy2Feb 5, 2020
Severe myoclonic epilepsy in infancy5Feb 20, 2024
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans1Jan 31, 2023
Sialic acid storage disease, severe infantile type1Mar 22, 2023
Sialidosis type 21Sep 18, 2023
Sifrim-Hitz-Weiss syndrome1Jan 31, 2023
Smith-Lemli-Opitz syndrome1May 2, 2024
Snijders Blok-Campeau syndrome1Apr 13, 2023
Sotos syndrome1Feb 22, 2022
Spastic ataxia 51Jan 19, 2017
Spermatogenic failure 182Mar 18, 2023
Spermatogenic failure 313Sep 11, 2023
Spermatogenic failure 351Jul 1, 2023
Spermatogenic failure 392Apr 25, 2023
Spermatogenic failure 661Jul 20, 2023
Spermatogenic failure 91Jul 2, 2024
Sphingolipid activator protein 1 deficiency3Jun 1, 2024
Spinal muscular atrophy with congenital bone fractures 11Nov 24, 2022
Spinocerebellar ataxia type 131Apr 20, 2021
Spinocerebellar ataxia type 19/221Sep 12, 2019
Spinocerebellar ataxia type 402Aug 22, 2023
Spinocerebellar ataxia type 52Dec 13, 2022
Spondyloepimetaphyseal dysplasia with multiple dislocations1May 25, 2024
Spondyloepimetaphyseal dysplasia, aggrecan type1Dec 21, 2022
Spongy degeneration of central nervous system1Jul 18, 2018
Succinate-semialdehyde dehydrogenase deficiency1Jun 11, 2022
Syndromic X-linked intellectual disability Lubs type2Aug 13, 2022
Syndromic X-linked intellectual disability Najm type1Sep 5, 2023
Tay-Sachs disease39Jan 30, 2024
Tay-Sachs disease, variant AB2Jan 26, 2017
Temtamy syndrome1Sep 14, 2021
Thanatophoric dysplasia type 11Sep 29, 2020
Thanatophoric dysplasia, type 21Sep 29, 2020
Thrombocytopenia 11Mar 11, 2020
Thrombophilia due to protein C deficiency, autosomal recessive1Dec 12, 2019
Tibial muscular dystrophy1May 18, 2018
Timothy syndrome1Jun 28, 2018
Torsion dystonia 61Mar 11, 2020
Townes-Brocks syndrome 11Jul 1, 2023
Treacher Collins syndrome 13Dec 23, 2022
Trichorhinophalangeal dysplasia type I1Jan 25, 2023
Tuberous sclerosis 22Jul 17, 2023
Type 2 diabetes mellitus1Jun 19, 2024
Tyrosinase-negative oculocutaneous albinism6Sep 12, 2019
UDPglucose-4-epimerase deficiency1Jan 11, 2023
Ullrich congenital muscular dystrophy 1A3Jan 9, 2024
Ullrich congenital muscular dystrophy 21Apr 22, 2022
Urinary bladder, atony of1Nov 24, 2022
Usher syndrome type 11Mar 2, 2023
Usher syndrome type 1F1Sep 7, 2022
Usher syndrome type 2A3Sep 7, 2022
Usmani-Riazuddin syndrome, autosomal dominant1Jan 9, 2024
Van Maldergem syndrome 11Aug 4, 2017
Vanishing white matter disease2Jan 19, 2021
Ververi-Brady syndrome1May 8, 2023
Very long chain acyl-CoA dehydrogenase deficiency2Jul 1, 2024
Waardenburg syndrome type 2E1Nov 24, 2020
Weiss-kruszka syndrome1Aug 23, 2022
Wilson disease4Jun 16, 2023
X-linked Alport syndrome6Nov 10, 2023
X-linked cone-rod dystrophy 11Aug 18, 2022
X-linked intellectual disability, Cantagrel type1Jun 17, 2020
X-linked intellectual disability-psychosis-macroorchidism syndrome1Mar 5, 2022
X-linked lymphoproliferative disease due to SH2D1A deficiency1Jul 12, 2018
X-linked severe combined immunodeficiency2Sep 11, 2021
Xeroderma pigmentosum group A2Jan 19, 2017
ZTTK syndrome2Jul 1, 2024
beta Thalassemia1Sep 23, 2022