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Broad Institute Rare Disease Group (Broad Institute)

General information

Broad Institute Rare Disease Group
Broad Institute
75 Ames St
Cambridge
Massachusetts
United States - 02142-1403
https://cmg.broadinstitute.org/
Organization ID: 506627

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1411

Gene

GeneSubmissionsLast Updated
ABCA47Mar 10, 2020
ABCB71Oct 3, 2019
ABCC61Mar 10, 2020
ABCC86Mar 9, 2020
ABCD11Oct 3, 2019
ACAD81Mar 10, 2020
ACADS1Mar 10, 2020
ACTA11Nov 17, 2020
ACTG21Jun 27, 2018
ACTN21May 29, 2020
ACTN41Mar 10, 2020
ADA1Nov 17, 2020
ADARB12May 29, 2020
ADAT31Jun 27, 2018
AGTPBP12May 29, 2020
AGXT1Jun 27, 2018
AHDC11Oct 3, 2019
AHI13Oct 3, 2019
AIPL11Mar 10, 2020
ALDH3A22Oct 3, 2019
ALG13Mar 10, 2020
ALS21Nov 21, 2018
AMPD21Oct 3, 2019
ANK11Mar 10, 2020
ANO510May 29, 2020
ANTXR21Mar 10, 2020
AP3B21Nov 21, 2018
AP4E11Sep 26, 2018
APBB11Mar 9, 2020
APOA51Mar 9, 2020
APOB7Mar 9, 2020
AR1Mar 10, 2020
ARFGEF21Mar 10, 2020
ARHGEF182Oct 3, 2019
ARID1A1Sep 26, 2018
ARID1B1Sep 26, 2018
ARSA1Oct 3, 2019
ARX1Sep 26, 2018
ASIC4-AS11Oct 3, 2019
ASL1Mar 10, 2020
ASNS2Nov 21, 2018
ASPA2Oct 3, 2019
ASPM4Mar 10, 2020
ASTN25Oct 3, 2019
ASXL32Oct 3, 2019
ATM1Nov 21, 2018
ATP13A41Mar 10, 2020
ATP2B21Mar 10, 2020
ATP5MF-PTCD12Mar 10, 2020
ATP6V0A21Oct 3, 2019
ATP6V0A41Mar 10, 2020
ATP6V1B11Mar 10, 2020
ATP7B2Mar 9, 2020
ATP8A21Nov 21, 2018
ATPAF21Sep 26, 2018
ATRX2Sep 26, 2018
ATXN7L3-AS11May 29, 2020
B3GALNT21Sep 26, 2018
B3GALT62Nov 17, 2020
B4GALNT11Nov 21, 2018
BAG31Sep 26, 2018
BBS11Jul 1, 2017
BBS24Oct 3, 2019
BBS51Sep 26, 2018
BCKDHA1Mar 10, 2020
BCL11B1May 29, 2020
BET12Feb 28, 2019
BLM1Oct 3, 2019
BRCA13Mar 9, 2020
BRCA23Mar 9, 2020
BTD1Mar 10, 2020
BVES1May 29, 2020
C11orf651Nov 21, 2018
C12orf432Mar 9, 2020
C1QTNF52Oct 3, 2019
CACNA1A1Nov 21, 2018
CACNA1S1May 29, 2020
CAPN329Oct 3, 2019
CASK4Oct 3, 2019
CASP101Mar 10, 2020
CAT1Mar 10, 2020
CC2D2A2Oct 3, 2019
CCN61Mar 10, 2020
CCND21Oct 3, 2019
CCNH1Mar 10, 2020
CD461Mar 10, 2020
CDH21May 29, 2020
CDK101Oct 3, 2019
CDKN2A1Mar 10, 2020
CEL2Mar 9, 2020
CELSR12Nov 17, 2020
CEP1041Nov 21, 2018
CEP2905Oct 3, 2019
CETP1Mar 10, 2020
CFTR1Mar 10, 2020
CHAT1May 29, 2020
CHD72Oct 3, 2019
CHN11Nov 17, 2020
CHRNB21Mar 10, 2020
CHST31Nov 21, 2018
CLCN52Mar 10, 2020
CLCNKB1Mar 10, 2020
CLN51Oct 3, 2019
CLN66Mar 10, 2020
CLN81Mar 10, 2020
CLP11Oct 3, 2019
CLTCL11Mar 10, 2020
CNGA31Mar 10, 2020
CNGB31Mar 10, 2020
CNKSR11Mar 10, 2020
CNTNAP11Sep 26, 2018
COG53Nov 17, 2020
COL13A12May 29, 2020
COL4A11May 29, 2020
COL4A52Oct 3, 2019
COL6A11Sep 26, 2018
COL6A21Mar 10, 2020
COL6A33Mar 10, 2020
COLQ1Oct 3, 2019
COQ22Oct 3, 2019
COQ8A1Mar 10, 2020
CPEB1-AS11Nov 21, 2018
CPLANE18Oct 3, 2019
CPS11Mar 10, 2020
CRB12Oct 3, 2019
CRPPA1Oct 3, 2019
CRX2Mar 10, 2020
CRYGC2Mar 10, 2020
CRYGD1Mar 10, 2020
CWF19L11Oct 3, 2019
CYFIP21May 29, 2020
CYP1B11Mar 10, 2020
CYP27A11Mar 10, 2020
CYP2U11Sep 26, 2018
CYP7B11Nov 21, 2018
CZ1P-ASNS2Nov 21, 2018
DCX1Nov 21, 2018
DDC1Nov 21, 2018
DEGS11May 29, 2020
DES2Mar 10, 2020
DIAPH11Nov 21, 2018
DMC11Mar 10, 2020
DMD2Nov 17, 2020
DNAJB61Sep 26, 2018
DNAJC211Oct 3, 2019
DSP1Mar 9, 2020
DUOX21Mar 10, 2020
DYNC1I22May 29, 2020
DYSF24Oct 3, 2019
EBF32Nov 17, 2020
ECHS12Nov 17, 2020
ECI11Mar 10, 2020
EDN31Mar 10, 2020
EDNRB1Mar 10, 2020
EDNRB-AS11Mar 10, 2020
EFHC21Mar 10, 2020
EIF2AK21Mar 11, 2020
ENG1Mar 10, 2020
ENPP11Mar 10, 2020
EP3001May 29, 2020
EPCAM1Nov 21, 2018
EPOR1Mar 10, 2020
ERCC6L21Oct 3, 2019
EXOSC31Oct 3, 2019
EXOSC82Oct 3, 2019
EXOSC92Oct 5, 2020
F81Mar 10, 2020
FAM126A1Sep 26, 2018
FAT42Oct 3, 2019
FBN12Mar 9, 2020
FBXL31Oct 3, 2019
FBXL41Nov 21, 2018
FIG42May 29, 2020
FKBP141Nov 21, 2018
FKBP14-AS11Nov 21, 2018
FKRP2May 29, 2020
FLNC2Oct 3, 2019
FLNC-AS11Oct 3, 2019
FOLR11Mar 10, 2020
FOXC11Nov 17, 2020
FRAS11Mar 10, 2020
FRMPD41Nov 21, 2018
FUCA11Nov 21, 2018
FUT21Mar 10, 2020
FUT63Mar 10, 2020
FXR13Nov 17, 2020
FZD41Mar 10, 2020
G6PD2Mar 10, 2020
GAA211Mar 9, 2020
GALC3Mar 10, 2020
GATA31May 29, 2020
GATA41Mar 10, 2020
GBA45Mar 9, 2020
GCK27Mar 9, 2020
GCKR1Mar 10, 2020
GH-LCR2Mar 10, 2020
GJC21Nov 21, 2018
GLA29Mar 9, 2020
GLDC1Mar 10, 2020
GLDN2Oct 3, 2019
GLI21Mar 10, 2020
GLRA11Mar 10, 2020
GNAO11Sep 26, 2018
GNAS1Sep 26, 2018
GNPTAB1Mar 10, 2020
GOT22May 29, 2020
GPHN7May 29, 2020
GREB1L1May 29, 2020
GRIN11Oct 3, 2019
H1-41Oct 3, 2019
H3-3B1Nov 17, 2020
HEXA1Mar 10, 2020
HIBCH1Nov 21, 2018
HK12May 29, 2020
HNF1A42Mar 9, 2020
HNF1B12May 29, 2020
HNF4A12Mar 10, 2020
HNRNPU1May 29, 2020
HOXB11Sep 26, 2018
HR2Mar 10, 2020
HS6ST11Mar 10, 2020
HSD11B11Mar 10, 2020
HSD11B1-AS11Mar 10, 2020
HSPB81May 29, 2020
HSPG22Nov 21, 2018
HTRA21Mar 10, 2020
IDUA34Mar 9, 2020
IFIH11Jun 27, 2018
IFT1402Oct 3, 2019
INCA12Oct 3, 2019
INHA1Mar 10, 2020
INPP5E3Nov 17, 2020
INSR1Mar 10, 2020
IRF2BPL1Nov 17, 2020
ITGA21Mar 10, 2020
ITPR11Oct 3, 2019
KAT6B1May 29, 2020
KCNB11Nov 21, 2018
KCNJ101Mar 10, 2020
KCNQ11Mar 9, 2020
KDM5C1Oct 3, 2019
KDM82Nov 17, 2020
KIF111Sep 26, 2018
KIF141May 29, 2020
KIF1A1Oct 3, 2019
KIF1C2Oct 3, 2019
KIF5B1Nov 17, 2020
KIT1Mar 10, 2020
KIZ1Nov 17, 2020
KMT2D2May 29, 2020
KMT2E32Feb 11, 2019
KRT81Mar 10, 2020
LAMA23Nov 17, 2020
LAMA51Nov 17, 2020
LAMB21Sep 26, 2018
LAMC32Oct 3, 2019
LDLR65Mar 9, 2020
LDLR-AS11Mar 9, 2020
LIX1L-AS11Oct 3, 2019
LMNA5Mar 9, 2020
LMNB21Mar 10, 2020
LOC1005074433Mar 10, 2020
LOC1053710461Oct 3, 2019
LOC1054476451Mar 10, 2020
LOC1065017131Mar 10, 2020
LOC10662798142Mar 9, 2020
LOC1101212691Mar 9, 2020
LONP12Oct 3, 2019
LOXL31Mar 10, 2020
LPA1Mar 10, 2020
LPIN21Mar 10, 2020
LPL5Mar 9, 2020
LRRK21Mar 10, 2020
LSM11May 29, 2020
LYST2Oct 3, 2019
LYZ1Mar 10, 2020
LZTR12Nov 17, 2020
MAFB1Oct 3, 2019
MAGEL21May 29, 2020
MAMLD11Mar 10, 2020
MBOAT71May 29, 2020
MC4R13Mar 9, 2020
MCEE1Mar 10, 2020
MCM3AP2Nov 17, 2020
MCM3AP-AS11Nov 17, 2020
MCOLN11Nov 21, 2018
MECOM1Oct 3, 2019
MEFV2Mar 10, 2020
MFRP2Oct 3, 2019
MFSD81Oct 3, 2019
MGAT22Sep 26, 2018
MHRT1Oct 3, 2019
MILR11Mar 10, 2020
MLC12Nov 21, 2018
MOCS21Oct 3, 2019
MPO1Mar 10, 2020
MSH21Mar 9, 2020
MSR11Mar 10, 2020
MSTO15May 29, 2020
MVK1Mar 10, 2020
MYBPC32Oct 3, 2019
MYH73Nov 17, 2020
MYMK3Nov 17, 2020
MYPN1Mar 10, 2020
MYRF1May 29, 2020
NALCN1Oct 3, 2019
NCF21Mar 10, 2020
NDUFA121Oct 3, 2019
NDUFAF61Oct 3, 2019
NDUFV13Nov 17, 2020
NEB6Oct 3, 2019
NF11Mar 10, 2020
NF21Mar 9, 2020
NHLRC11Oct 3, 2019
NKX2-52Mar 10, 2020
NLRP142Mar 10, 2020
NOTCH22May 29, 2020
NPC12Oct 3, 2019
NPHP11Mar 10, 2020
NPHP33Sep 26, 2018
NPHP3-ACAD115Sep 26, 2018
NPHP41Mar 10, 2020
NPHS17Mar 10, 2020
NPHS22Oct 3, 2019
NSUN21Nov 21, 2018
NTF41Mar 10, 2020
NTNG22May 29, 2020
NUP933Oct 3, 2019
OCLN1Oct 3, 2019
OFD12May 29, 2020
OGT1May 29, 2020
OTC1Mar 9, 2020
OTOF1Mar 10, 2020
PAFAH1B12Jun 27, 2018
PARK71Mar 10, 2020
PAX21Jul 1, 2017
PCDH122May 29, 2020
PCDH191Nov 21, 2018
PCGF21Mar 6, 2019
PCLO1Nov 21, 2018
PCNT1Mar 10, 2020
PCSK94Mar 9, 2020
PDE11A1Mar 10, 2020
PDE6B2Nov 17, 2020
PDX16Mar 10, 2020
PEX101Mar 10, 2020
PEX161Oct 3, 2019
PGAP31Nov 21, 2018
PHGDH1Sep 26, 2018
PHKB1Mar 10, 2020
PHYH1Mar 10, 2020
PKD13Oct 3, 2019
PKD21Mar 10, 2020
PKHD12Jun 27, 2018
PKLR1Mar 10, 2020
PLA2G62Nov 21, 2018
PLCB11Oct 3, 2019
PLCB41Sep 26, 2018
PLCE11Sep 26, 2018
PLCE1-AS11Sep 26, 2018
PLEC1Mar 10, 2020
PLP11Mar 10, 2020
PLUT4Mar 9, 2020
PMM21Nov 21, 2018
PNKP1Oct 3, 2019
PNPLA72Nov 17, 2020
PNPT12Jun 27, 2018
POC1B1Jun 27, 2018
POLG21Mar 10, 2020
POMGNT11Oct 3, 2019
POMK2Oct 3, 2019
POMT12Oct 3, 2019
POMT23Oct 3, 2019
PORCN1Oct 3, 2019
PPARG2Mar 9, 2020
PPT13Mar 10, 2020
PRDM161Mar 10, 2020
PRDM21Mar 10, 2020
PRF11Mar 10, 2020
PRKAG21Mar 10, 2020
PRKN2Mar 10, 2020
PROS11Mar 10, 2020
PRPF311Oct 3, 2019
PRPS11Nov 21, 2018
PRUNE11Oct 3, 2019
PSAP2Oct 3, 2019
PTCD12Mar 10, 2020
PTPN111Oct 3, 2019
PYCR21Jun 27, 2018
PYROXD11May 29, 2020
RAB3GAP11Nov 21, 2018
RAB9B1Mar 10, 2020
RARS11Nov 21, 2018
RASA11Mar 10, 2020
RBM8A1Oct 3, 2019
RDH127May 29, 2020
RERE1Oct 3, 2019
RGS91Sep 26, 2018
RHAG1Mar 10, 2020
RHO1Sep 26, 2018
RIF12Oct 3, 2019
RIT11Oct 3, 2019
RNASEH2B1Nov 21, 2018
RNASET21Oct 3, 2019
RORA1May 29, 2020
RORA-AS11May 29, 2020
RP11Mar 10, 2020
RP21Mar 10, 2020
RPE652Mar 10, 2020
RPGR1Oct 3, 2019
RPGRIP18Nov 17, 2020
RPGRIP1L1Sep 26, 2018
RPL36A-HNRNPH229Mar 9, 2020
RPS191Mar 10, 2020
RPS291Oct 3, 2019
RTN4IP11May 13, 2020
RYR111Nov 17, 2020
RYR23Mar 9, 2020
SALL11May 29, 2020
SAMD9L1Oct 3, 2019
SAMHD11Oct 3, 2019
SCAMP41Jun 27, 2018
SCN1A-AS12Mar 10, 2020
SCN4A2Mar 10, 2020
SCN5A2Mar 9, 2020
SCN9A2Mar 10, 2020
SDCCAG82Sep 26, 2018
SDHD1Mar 9, 2020
SEPSECS1Nov 21, 2018
SERPINA101Mar 10, 2020
SGCA3Oct 3, 2019
SGCB3Oct 3, 2019
SGCG3Oct 3, 2019
SHANK31Nov 21, 2018
SHOC21Oct 3, 2019
SIL11Mar 10, 2020
SLC12A34Mar 10, 2020
SLC12A51Mar 10, 2020
SLC16A21Oct 3, 2019
SLC18A31May 29, 2020
SLC19A31Sep 26, 2018
SLC24A21Mar 10, 2020
SLC25A221Oct 3, 2019
SLC25A41Sep 26, 2018
SLC26A19Mar 9, 2020
SLC26A22Mar 10, 2020
SLC26A42Mar 10, 2020
SLC2A11Sep 26, 2018
SLC35C11Nov 21, 2018
SLC39A141Nov 17, 2020
SLC39A81Sep 26, 2018
SLC4A11Mar 10, 2020
SLC6A51Mar 10, 2020
SLC6A81Mar 10, 2020
SMAD31Mar 9, 2020
SMAD41Jul 1, 2017
SMARCAL12Jul 1, 2017
SMPD155Mar 9, 2020
SMPD41May 29, 2020
SNRNP2001Oct 3, 2019
SNX141Sep 26, 2018
SOS11Mar 10, 2020
SPATA222Oct 3, 2019
SPEG2Oct 3, 2019
SPG115Mar 10, 2020
SPINK11Mar 10, 2020
SPR1Sep 26, 2018
SPTA11Oct 3, 2019
SPTB2Oct 3, 2019
SPTLC11Nov 17, 2020
SRCAP1Sep 26, 2018
SRGAP12May 29, 2020
SRPK26Feb 11, 2019
STAC31Sep 26, 2018
STK111Mar 9, 2020
SURF11Sep 26, 2018
SYNGR11Mar 10, 2020
SYT11May 29, 2020
SZT22Oct 3, 2019
TACO11Oct 3, 2019
TAF11Sep 26, 2018
TANGO21Oct 3, 2019
TBC1D231May 29, 2020
TBC1D8B1May 29, 2020
TBCD6Nov 17, 2020
TCAP2Mar 10, 2020
TCTN12Sep 26, 2018
TGM11Mar 10, 2020
THOC21Sep 26, 2018
TLK21May 29, 2020
TMEM2311Sep 26, 2018
TMEM2372Sep 26, 2018
TMEM678Oct 3, 2019
TMPO1Mar 10, 2020
TNK21Mar 10, 2020
TNNI31Oct 3, 2019
TNNT21Oct 3, 2019
TP631Jul 1, 2017
TPM12Oct 3, 2019
TPP11Oct 3, 2019
TRAPPC112May 29, 2020
TRAPPC2L1Nov 17, 2020
TRAPPC41Nov 17, 2020
TRIM325Oct 3, 2019
TRIM372Nov 17, 2020
TRIP41May 29, 2020
TRPM11Sep 26, 2018
TRPM31Nov 17, 2020
TRPV41Mar 10, 2020
TSC21Mar 9, 2020
TSEN541Oct 3, 2019
TSPAN11Oct 3, 2019
TTC21B3Mar 10, 2020
TTC21B-AS11Jul 1, 2017
TTN16Oct 3, 2019
TTN-AS110Oct 3, 2019
TUBA1A3Oct 3, 2019
TUBB2A1Oct 3, 2019
TUBG11Oct 3, 2019
UBA52Jun 27, 2018
UBTF1May 29, 2020
UNC801Nov 21, 2018
USH2A5Oct 3, 2019
USH2A-AS11Oct 3, 2019
UTP41Mar 10, 2020
VARS11May 29, 2020
VDR1Sep 26, 2018
VLDLR2Oct 3, 2019
VPS112Nov 17, 2020
VPS13B2Nov 21, 2018
VRK11Nov 21, 2018
WARS22Nov 17, 2020
WARS2-AS11Nov 17, 2020
WDR361Mar 10, 2020
WDR41May 29, 2020
WDR731Oct 3, 2019
WFS11Mar 10, 2020
WT11Jul 1, 2017
WWOX1Sep 26, 2018
XDH1Mar 10, 2020
YARS21Oct 3, 2019
ZBTB181Oct 3, 2019
ZC4H22Nov 17, 2020
ZDHHC241Jul 1, 2017
ZFYVE261May 29, 2020
ZNF4621May 29, 2020
ZNF6991Nov 17, 2020
ZNHIT31May 29, 2020

Condition

NameSubmissionsLast Updated
22q13.3 deletion syndrome1Nov 21, 2018
ALG1-CDG2Oct 3, 2019
Abnormal retinal morphology1Mar 10, 2020
Abnormality of the outer ear1Mar 6, 2019
Acatalasia1Mar 10, 2020
Achromatopsia 21Mar 10, 2020
Acquired partial lipodystrophy1Mar 10, 2020
Adrenoleukodystrophy1Oct 3, 2019
Adult neuronal ceroid lipofuscinosis1Mar 10, 2020
Agenesis of the corpus callosum with peripheral neuropathy2Mar 10, 2020
Aicardi Goutieres syndrome 21Nov 21, 2018
Aicardi Goutieres syndrome 51Oct 3, 2019
Aicardi-Goutieres syndrome 71Jun 27, 2018
Al Kaissi syndrome1Oct 3, 2019
Allan-Herndon-Dudley syndrome1Oct 3, 2019
Alport syndrome 1, X-linked recessive3Mar 10, 2020
Androgen resistance syndrome1Mar 10, 2020
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2Mar 10, 2020
Argininosuccinate lyase deficiency1Mar 10, 2020
Arterial calcification, generalized, of infancy, 11Mar 10, 2020
Arts syndrome1Nov 21, 2018
Asparagine synthetase deficiency2Nov 21, 2018
Ataxia, spastic, 2, autosomal recessive2Oct 3, 2019
Ataxia-pancytopenia syndrome1Oct 3, 2019
Ataxia-telangiectasia syndrome1Nov 21, 2018
Auriculocondylar syndrome 21Sep 26, 2018
Autistic disorder of childhood onset2Mar 10, 2020
Autosomal dominant nonsyndromic deafness 61Mar 10, 2020
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 41Mar 10, 2020
Autosomal recessive congenital ichthyosis 11Mar 10, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2B24Oct 3, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2D4Oct 3, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2E2Oct 3, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2G1Oct 3, 2019
Autosomal recessive polycystic kidney disease4Sep 26, 2018
Bailey-Bloch congenital myopathy3Mar 10, 2020
Bainbridge-Ropers syndrome2Oct 3, 2019
Bardet-Biedl syndrome1Jul 1, 2017
Bardet-Biedl syndrome 163Mar 10, 2020
Bardet-Biedl syndrome 22Sep 26, 2018
Bardet-Biedl syndrome 51Sep 26, 2018
Beta-hydroxyisobutyryl-CoA deacylase deficiency1Nov 21, 2018
Bethlem myopathy 12Mar 10, 2020
Biotin-responsive basal ganglia disease1Sep 26, 2018
Biotinidase deficiency1Mar 10, 2020
Bloom syndrome1Oct 3, 2019
Bone marrow failure syndrome 21Oct 3, 2019
Bone marrow failure syndrome 31Oct 3, 2019
Bradyopsia1Sep 26, 2018
Brain small vessel disease 1 with or without ocular anomalies1May 29, 2020
Breast-ovarian cancer, familial 23Mar 9, 2020
CHARGE association1Jun 27, 2018
CODAS syndrome2Oct 3, 2019
Capillary malformation-arteriovenous malformation 11Mar 10, 2020
Cardiomyopathy, familial hypertrophic, 261Oct 3, 2019
Cataract 2, multiple types1Mar 10, 2020
Central core myopathy13Nov 17, 2020
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 12Oct 3, 2019
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 41Nov 21, 2018
Cerebral atrophy1Oct 5, 2020
Cerebral folate transport deficiency1Mar 10, 2020
Cerebral hypomyelination2May 29, 2020
Ceroid lipofuscinosis neuronal 21Oct 3, 2019
Charcot-Marie-Tooth disease axonal type 2C1Mar 10, 2020
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder1May 29, 2020
Cholestanol storage disease1Mar 10, 2020
Chorea2Jun 1, 2020
Chédiak-Higashi syndrome2Oct 3, 2019
Coenzyme Q10 deficiency, primary 12Oct 3, 2019
Coffin-Siris syndrome2Nov 17, 2020
Coffin-Siris syndrome 11Sep 26, 2018
Cohen syndrome2Nov 21, 2018
Combined oxidative phosphorylation deficiency 132Jun 27, 2018
Combined saposin deficiency1Jul 1, 2017
Complex I deficiency1Mar 10, 2020
Complex neurodevelopmental disorder1May 29, 2020
Cone-rod dystrophy 201Jun 27, 2018
Cone-rod dystrophy 34Oct 3, 2019
Congenital anomalies of kidney and urinary tract3May 29, 2020
Congenital anomalies of kidney and urinary tract 1, susceptibility to1May 29, 2020
Congenital disorder of glycosylation type 2i3Nov 17, 2020
Congenital disorder of glycosylation, type IIa2Sep 26, 2018
Congenital disorder of glycosylation, type Ia1Nov 21, 2018
Congenital hyperammonemia, type I1Mar 10, 2020
Congenital muscular dystrophy, LMNA-related1Sep 26, 2018
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B51May 29, 2020
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B11Jul 1, 2017
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B21Sep 26, 2018
Congenital myopathy2Nov 17, 2020
Congenital myopathy with fiber type disproportion1Nov 17, 2020
Congenital nonprogressive myopathy with Moebius and Robin sequences3Nov 17, 2020
Congenital omphalocele1Nov 17, 2020
Congenital stationary night blindness, type 1C1Sep 26, 2018
Corpus callosum, agenesis of1May 29, 2020
Cortical dysplasia, complex, with other brain malformations 41Oct 3, 2019
Cortical dysplasia, complex, with other brain malformations 51Oct 3, 2019
Cortisone reductase deficiency 21Mar 10, 2020
Creatine transporter deficiency1Mar 10, 2020
Cutis laxa with osteodystrophy1Oct 3, 2019
Cystic fibrosis1Mar 10, 2020
Deafness, autosomal recessive 91Mar 10, 2020
Deficiency of aromatic-L-amino-acid decarboxylase1Nov 21, 2018
Deficiency of isobutyryl-CoA dehydrogenase1Mar 10, 2020
Developmental and epileptic encephalopathy, 651May 29, 2020
Developmental regression1Mar 11, 2020
Dextrocardia1May 29, 2020
Diamond-Blackfan anemia1Nov 17, 2020
Diamond-Blackfan anemia 11Mar 10, 2020
Diamond-Blackfan anemia 131Oct 3, 2019
Diarrhea 5, with tufting enteropathy, congenital1Nov 21, 2018
Diastrophic dysplasia2Mar 10, 2020
Diencephalic-mesencephalic junction dysplasia2May 29, 2020
Dilated cardiomyopathy 1I1Mar 10, 2020
Dilated cardiomyopathy 1KK1Mar 10, 2020
Distal hereditary motor neuronopathy type 2A1May 29, 2020
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Sep 26, 2018
Duane retraction syndrome 21Nov 17, 2020
Duchenne muscular dystrophy2Nov 17, 2020
Early infantile epileptic encephalopathy 101Oct 3, 2019
Early infantile epileptic encephalopathy 121Oct 3, 2019
Early infantile epileptic encephalopathy 171Sep 26, 2018
Early infantile epileptic encephalopathy 182Oct 3, 2019
Early infantile epileptic encephalopathy 91Nov 21, 2018
Early infantile epileptic encephalopathy with suppression bursts2May 29, 2020
Early myoclonic encephalopathy1Oct 3, 2019
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss1Nov 21, 2018
Elliptocytosis 21Oct 3, 2019
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum6Nov 17, 2020
Endplate acetylcholinesterase deficiency1Oct 3, 2019
Epidermolysis bullosa simplex, Ogna type1Mar 10, 2020
Epilepsy, idiopathic generalized, susceptibility to, 141Mar 10, 2020
Epilepsy, nocturnal frontal lobe, type 31Mar 10, 2020
Epileptic encephalopathy, early infantile, 11Sep 26, 2018
Epileptic encephalopathy, early infantile, 261Nov 21, 2018
Epileptic encephalopathy, early infantile, 282Mar 10, 2020
Epileptic encephalopathy, early infantile, 421Nov 21, 2018
Epileptic encephalopathy, early infantile, 442Jun 27, 2018
Epileptic encephalopathy, early infantile, 481Nov 21, 2018
Epileptic encephalopathy, early infantile, 541May 29, 2020
Exudative vitreoretinopathy 11Mar 10, 2020
Fabry disease29Mar 9, 2020
Familial hemophagocytic lymphohistiocytosis 21Mar 10, 2020
Familial hypercholesterolemia28Mar 9, 2020
Familial hypercholesterolemia 139Mar 9, 2020
Familial hypercholesterolemia 23Mar 9, 2020
Familial hypercholesterolemia 31Mar 9, 2020
Familial hypertrophic cardiomyopathy 21Oct 3, 2019
Familial hypertrophic cardiomyopathy 32Oct 3, 2019
Familial hypertrophic cardiomyopathy 42Oct 3, 2019
Familial hypertrophic cardiomyopathy 71Oct 3, 2019
Familial hypokalemia-hypomagnesemia4Mar 10, 2020
Familial mediterranean fever, autosomal dominant1Jul 1, 2017
Familial partial lipodystrophy2Mar 9, 2020
Familial partial lipodystrophy 31Mar 9, 2020
Familial visceral amyloidosis, Ostertag type1Mar 10, 2020
Fetal and neonatal alloimmune thrombocytopenia1Mar 10, 2020
Finnish congenital nephrotic syndrome10Mar 10, 2020
Floating-Harbor syndrome1Sep 26, 2018
Focal dermal hypoplasia1Oct 3, 2019
Focal segmental glomerulosclerosis 71Jul 1, 2017
Fucosidosis1Nov 21, 2018
Fucosyltransferase 6 deficiency4Mar 10, 2020
GLUT1 deficiency syndrome 11Sep 26, 2018
Galactosylceramide beta-galactosidase deficiency3Mar 10, 2020
Galloway-Mowat syndrome1May 29, 2020
Galloway-Mowat syndrome 12Mar 10, 2020
Gaucher disease37Mar 9, 2020
Gaucher's disease, type 18Mar 9, 2020
Global developmental delay3Jun 1, 2020
Glycogen storage disease IXb1Mar 10, 2020
Glycogen storage disease, type II211Mar 9, 2020
Glycoprotein storage disease1Mar 9, 2020
Hemiparkinsonism-hemiatrophy syndrome1Nov 17, 2020
Hepatocellular carcinoma1Mar 10, 2020
Hereditary congenital facial paresis 31Sep 26, 2018
Hereditary factor VIII deficiency disease1Mar 10, 2020
Hereditary spastic paraplegia 261Nov 21, 2018
Hereditary spastic paraplegia 5A2Nov 21, 2018
Hereditary xanthinuria type 11Mar 10, 2020
Heterotopia, periventricular, autosomal recessive1Mar 10, 2020
Hirschsprung disease 41Mar 10, 2020
Holoprosencephaly 91Mar 10, 2020
Hyperalphalipoproteinemia 11Mar 10, 2020
Hyperekplexia 11Mar 10, 2020
Hyperekplexia 31Mar 10, 2020
Hyperinsulinemic hypoglycemia, familial, 11Mar 9, 2020
Hyperlipidemia, familial combined, LPL related4Mar 9, 2020
Hypermanganesemia with dystonia 21Nov 17, 2020
Hyperphosphatasia with mental retardation syndrome 41Nov 21, 2018
Hypertelorism and tetralogy of fallot1Nov 17, 2020
Hypertriglyceridemia3Mar 10, 2020
Hypertrophic cardiomyopathy2Nov 17, 2020
Hypertrophic cardiomyopathy 251Mar 10, 2020
Hypobetalipoproteinemia, familial, 13Mar 9, 2020
Hypogonadotropic hypogonadism 15 with or without anosmia1Mar 10, 2020
Hypogonadotropic hypogonadism 5 with or without anosmia1Oct 3, 2019
Hypomyelination and Congenital Cataract2Mar 10, 2020
Hypoparathyroidism-deafness-renal disease syndrome1May 29, 2020
Hypospadias 2, X-linked1Mar 10, 2020
Hypotonia, ataxia, and delayed development syndrome1Nov 17, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 11Oct 3, 2019
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21Nov 21, 2018
Idiopathic nephrotic syndrome2Oct 3, 2019
Indifference to pain, congenital, autosomal recessive1Mar 10, 2020
Infantile epilepsy1Mar 10, 2020
Infantile neuroaxonal dystrophy2Nov 21, 2018
Infantile-onset ascending hereditary spastic paralysis1Nov 21, 2018
Inflammatory bowel disease1Mar 10, 2020
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1May 29, 2020
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities1May 29, 2020
Intellectual disability5Nov 17, 2020
Intellectual disability, X-linked 1061May 29, 2020
Intellectual disability, autosomal dominant 91Oct 3, 2019
Intellectual disability-developmental delay-contractures syndrome2Nov 17, 2020
Joubert syndrome 13Nov 17, 2020
Joubert syndrome 101Jul 1, 2017
Joubert syndrome 132Sep 26, 2018
Joubert syndrome 142Sep 26, 2018
Joubert syndrome 1711Mar 10, 2020
Joubert syndrome 251Nov 21, 2018
Joubert syndrome 34Mar 10, 2020
Joubert syndrome 54Mar 10, 2020
Joubert syndrome 68Oct 3, 2019
Joubert syndrome 72Mar 10, 2020
Joubert syndrome 93Mar 10, 2020
Kabuki syndrome 14May 29, 2020
King Denborough syndrome2Mar 9, 2020
Lafora disease1Oct 3, 2019
Late-onset retinal degeneration2Oct 3, 2019
Leber congenital amaurosis1May 29, 2020
Leber congenital amaurosis 102Oct 3, 2019
Leber congenital amaurosis 136May 29, 2020
Leber congenital amaurosis 21Mar 10, 2020
Leber congenital amaurosis 68Nov 17, 2020
Leber congenital amaurosis 82Oct 3, 2019
Left ventricular noncompaction 81Mar 10, 2020
Leigh syndrome3Oct 3, 2019
Lethal congenital contracture syndrome 112Oct 3, 2019
Lethal congenital contracture syndrome 71Sep 26, 2018
Leukocyte adhesion deficiency type II1Nov 21, 2018
Leukodystrophy, hypomyelinating, 101Jun 27, 2018
Leukodystrophy, hypomyelinating, 122Nov 17, 2020
Leukodystrophy, hypomyelinating, 181May 29, 2020
Leukodystrophy, hypomyelinating, 21Nov 21, 2018
Leukodystrophy, hypomyelinating, 91Nov 21, 2018
Leukoencephalopathy1Mar 11, 2020
Leukoencephalopathy, cystic, without megalencephaly1Oct 3, 2019
Limb-girdle muscular dystrophy3May 29, 2020
Limb-girdle muscular dystrophy, type 1B1Oct 3, 2019
Limb-girdle muscular dystrophy, type 1E1Sep 26, 2018
Limb-girdle muscular dystrophy, type 2A29Oct 3, 2019
Limb-girdle muscular dystrophy, type 2J14Oct 3, 2019
Limb-girdle muscular dystrophy, type 2L8Oct 3, 2019
Limb-girdle muscular dystrophy-dystroglycanopathy, type C22Oct 3, 2019
Limb-girdle muscular dystrophy-dystroglycanopathy, type C31Oct 3, 2019
Limb-girdle muscular dystrophy-dystroglycanopathy, type C51Oct 3, 2019
Lipodystrophy (disease)2Mar 9, 2020
Lissencephaly 34Mar 10, 2020
Lissencephaly due to LIS1 mutation2Jun 27, 2018
Lissencephaly, X-linked1Nov 21, 2018
Low bone mineral density1Mar 10, 2020
METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION1Oct 3, 2019
Macrocephalus2Jun 1, 2020
Maple syrup urine disease1Mar 10, 2020
Maturity onset diabetes mellitus in young11Mar 9, 2020
Maturity-onset diabetes of the young type 44Mar 9, 2020
Maturity-onset diabetes of the young type 82Mar 9, 2020
Maturity-onset diabetes of the young, type 18Mar 9, 2020
Maturity-onset diabetes of the young, type 220Mar 9, 2020
Maturity-onset diabetes of the young, type 333Mar 9, 2020
Meckel syndrome, type 112Mar 10, 2020
Meckel-Gruber-like syndrome1Mar 10, 2020
Megalencephalic leukoencephalopathy with subcortical cysts 12Nov 21, 2018
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31Oct 3, 2019
Mental retardation and microcephaly with pontine and cerebellar hypoplasia4Oct 3, 2019
Mental retardation, X-linked 1021Mar 10, 2020
Mental retardation, X-linked 1041Nov 21, 2018
Mental retardation, X-linked 122Mar 10, 2020
Mental retardation, X-linked 991Mar 10, 2020
Mental retardation, X-linked, syndromic 331Sep 26, 2018
Mental retardation, autosomal dominant 143Mar 10, 2020
Mental retardation, autosomal dominant 221Oct 3, 2019
Mental retardation, autosomal recessive 361Jun 27, 2018
Mental retardation, autosomal recessive 51Nov 21, 2018
Mental retardation, autosomal recessive 571May 29, 2020
Mental retardation, syndromic, Claes-Jensen type, X-linked1Oct 3, 2019
Merosin deficient congenital muscular dystrophy3Nov 17, 2020
Metachromatic leukodystrophy1Oct 3, 2019
Methylmalonyl-CoA epimerase deficiency1Mar 10, 2020
Metopic ridging-ptosis-facial dysmorphism syndrome1May 29, 2020
Microcephaly 20, primary, autosomal recessive1May 29, 2020
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1Sep 26, 2018
Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant3Mar 10, 2020
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)1Nov 21, 2018
Mitochondrial complex I deficiency2Nov 17, 2020
Mitochondrial complex I deficiency, nuclear type 11Oct 3, 2019
Mitochondrial complex IV deficiency1Oct 3, 2019
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome5May 29, 2020
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency2Nov 17, 2020
Molybdenum cofactor deficiency, complementation group B1Oct 3, 2019
Monogenic diabetes19Mar 9, 2020
Mucopolysaccharidosis type 132Mar 9, 2020
Mucopolysaccharidosis, MPS-I-H/S2Oct 3, 2019
Mulibrey nanism syndrome4Nov 17, 2020
Multicentric carpo-tarsal osteolysis with or without nephropathy1Oct 3, 2019
Multicystic kidney dysplasia1May 29, 2020
Multiminicore Disease1May 29, 2020
Muscular dystrophy1Jul 1, 2017
Muscular dystrophy, congenital, davignon-chauveau type1May 29, 2020
Muscular dystrophy, limb-girdle, autosomal recessive 232May 29, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111Sep 26, 2018
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 122Oct 3, 2019
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 71Oct 3, 2019
Myasthenic syndrome, congenital, 192May 29, 2020
Myasthenic syndrome, congenital, 21, presynaptic1May 29, 2020
Myeloperoxidase deficiency1Mar 10, 2020
Myhre syndrome1Jul 1, 2017
Myofibrillar myopathy 11Oct 3, 2019
Myofibrillar myopathy, BAG3-related3Mar 10, 2020
Myopathy, centronuclear, 54Mar 10, 2020
Myopathy, congenital, with structured cores and z-line abnormalities1May 29, 2020
Myopathy, distal, 12Oct 3, 2019
Myopathy, distal, 41Jun 27, 2018
Myopathy, early-onset, with fatal cardiomyopathy2Jun 27, 2018
Myopathy, lactic acidosis, and sideroblastic anemia 21Oct 3, 2019
Myopathy, myofibrillar, 81May 29, 2020
Myosin storage myopathy1Nov 17, 2020
Nemaline myopathy 26Oct 3, 2019
Nemaline myopathy 51Mar 10, 2020
Neonatal death2Oct 3, 2019
Nephronophthisis2May 29, 2020
Nephronophthisis 122Jul 1, 2017
Nephronophthisis 32Sep 26, 2018
Nephronophthisis 41Mar 10, 2020
Nephrotic syndrome1May 29, 2020
Nephrotic syndrome, type 123Oct 3, 2019
Nephrotic syndrome, type 31Sep 26, 2018
Nephrotic syndrome, type 41Jul 1, 2017
Nephrotic syndrome, type 5, with or without ocular abnormalities2Mar 10, 2020
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures2May 29, 2020
Neurodevelopmental disorder with hypotonia, seizures, and absent language2May 29, 2020
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies1May 29, 2020
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies3May 29, 2020
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy1May 29, 2020
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1Oct 3, 2019
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1Oct 3, 2019
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies1Nov 17, 2020
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures1Nov 17, 2020
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2Nov 17, 2020
Neuronal ceroid lipofuscinosis 11Sep 26, 2018
Neuronal ceroid lipofuscinosis 51Oct 3, 2019
Neuronal ceroid lipofuscinosis 64Oct 3, 2019
Neuronal ceroid lipofuscinosis 71Oct 3, 2019
Neuropathy, hereditary sensory and autonomic, type 1A1Nov 17, 2020
Niemann-Pick disease type C12Oct 3, 2019
Niemann-Pick disease, type A1Mar 9, 2020
Non-ketotic hyperglycinemia1Mar 10, 2020
Noonan syndrome 11Oct 3, 2019
Noonan syndrome 22Nov 17, 2020
Noonan syndrome 81Oct 3, 2019
Noonan syndrome-like disorder with loose anagen hair 11Oct 3, 2019
North american indian childhood cirrhosis1Mar 10, 2020
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 11Sep 26, 2018
Obesity13Mar 9, 2020
PEHO syndrome1May 29, 2020
Parkinson disease 131Mar 10, 2020
Parkinson disease 22Mar 10, 2020
Parkinson disease 8, autosomal dominant1Mar 10, 2020
Partial albinism1Mar 10, 2020
Pelizaeus-Merzbacher disease1Mar 10, 2020
Pendred syndrome1Mar 10, 2020
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3Nov 17, 2020
Peroxisome biogenesis disorder 6A1Mar 10, 2020
Peroxisome biogenesis disorder 8A1Oct 3, 2019
Phosphoglycerate dehydrogenase deficiency1Sep 26, 2018
Polycystic kidney disease, adult type1Oct 3, 2019
Pontocerebellar hypoplasia type 1A1Nov 21, 2018
Pontocerebellar hypoplasia type 2A1Oct 3, 2019
Pontocerebellar hypoplasia type 2D1Nov 21, 2018
Pontocerebellar hypoplasia type 31Nov 21, 2018
Pontocerebellar hypoplasia, type 101Oct 3, 2019
Pontocerebellar hypoplasia, type 111May 29, 2020
Pontocerebellar hypoplasia, type 1b1Oct 3, 2019
Pontocerebellar hypoplasia, type 1c2Oct 3, 2019
Pontocerebellar hypoplasia, type 1d1May 29, 2020
Pontocerebellar hypoplasia, type 91Oct 3, 2019
Premature ovarian failure2Mar 10, 2020
Primary autosomal recessive microcephaly 55Mar 10, 2020
Primary erythromelalgia1Mar 10, 2020
Primary hyperoxaluria, type I1Jun 27, 2018
Progressive muscle weakness2Feb 28, 2019
Progressive pseudorheumatoid dysplasia1Mar 10, 2020
Pseudo-Hurler polydystrophy1Mar 10, 2020
Pseudo-TORCH syndrome 11Oct 3, 2019
Pseudopseudohypoparathyroidism1Sep 26, 2018
Psoriasis1Mar 10, 2020
Pyruvate kinase deficiency of red cells1Mar 10, 2020
Radial aplasia-thrombocytopenia syndrome1Oct 3, 2019
Radioulnar synostosis with amegakaryocytic thrombocytopenia 21Oct 3, 2019
Rahman syndrome1Oct 3, 2019
Renal cysts and diabetes syndrome6Mar 10, 2020
Renal hypodysplasia/aplasia 31May 29, 2020
Renal tubular acidosis with progressive nerve deafness1Mar 10, 2020
Renal-hepatic-pancreatic dysplasia 11Jul 1, 2017
Retinitis pigmentosa 11Mar 10, 2020
Retinitis pigmentosa 111Oct 3, 2019
Retinitis pigmentosa 151Oct 3, 2019
Retinitis pigmentosa 21Mar 10, 2020
Retinitis pigmentosa 331Oct 3, 2019
Retinitis pigmentosa 392Jul 1, 2017
Retinitis pigmentosa 41Sep 26, 2018
Retinitis pigmentosa 402Nov 17, 2020
Retinitis pigmentosa 691Nov 17, 2020
Retinitis pigmentosa 742Oct 3, 2019
Retinitis pigmentosa 782Oct 3, 2019
Retinitis pigmentosa 792May 29, 2020
Rh-null, regulator type1Mar 10, 2020
Robin sequence1Jun 27, 2018
SLC39A8-CDG1Sep 26, 2018
Saldino-Mainzer syndrome2Oct 3, 2019
Sarcotubular myopathy5Oct 3, 2019
Schaaf-Yang syndrome1May 29, 2020
Schimke immuno-osseous dysplasia2Jul 1, 2017
Schizophrenia1Mar 10, 2020
Schwartz-Jampel syndrome2Nov 21, 2018
See cases35Feb 11, 2019
Seizures3Mar 10, 2020
Seizures, cortical blindness, and microcephaly syndrome1Nov 21, 2018
Severe autosomal recessive muscular dystrophy of childhood - North African type3Oct 3, 2019
Severe combined immunodeficiency due to ADA deficiency1Nov 17, 2020
Short stature2Jun 1, 2020
Sjögren-Larsson syndrome2Oct 3, 2019
Skeletal muscle atrophy1May 29, 2020
Spastic paraplegia 11, autosomal recessive4Mar 10, 2020
Spastic paraplegia 51, autosomal recessive1Sep 26, 2018
Spastic paraplegia 56, autosomal recessive1Sep 26, 2018
Spermatogenic Failure2Mar 10, 2020
Spherocytosis type 11Mar 10, 2020
Spherocytosis type 23Oct 3, 2019
Spherocytosis type 41Mar 10, 2020
Sphingolipid activator protein 1 deficiency1Oct 3, 2019
Sphingomyelin/cholesterol lipidosis54Mar 9, 2020
Spinocerebellar ataxia type 291Oct 3, 2019
Spinocerebellar ataxia, autosomal recessive 171Oct 3, 2019
Spinocerebellar ataxia, autosomal recessive 201Sep 26, 2018
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures2Nov 17, 2020
Spondyloepiphyseal dysplasia with congenital joint dislocations1Nov 21, 2018
Spongy degeneration of central nervous system2Oct 3, 2019
Stargardt disease 13Mar 10, 2020
Syndromic intellectual disability3May 29, 2020
Tay-Sachs disease1Mar 10, 2020
Tetralogy of Fallot1Mar 10, 2020
Townes-Brocks syndrome 11May 29, 2020
Type 2 diabetes mellitus5Mar 10, 2020
Ullrich congenital muscular dystrophy 14Mar 10, 2020
Usher syndrome, type 2A3Oct 3, 2019
Usher syndrome, type 2C4Mar 10, 2020
VATER association1May 29, 2020
Van Maldergem syndrome 22Oct 3, 2019
Visceral myopathy1Jun 27, 2018
Vitamin D-dependent rickets, type 22Mar 10, 2020
Walker-Warburg congenital muscular dystrophy2Nov 17, 2020
Warburg micro syndrome 11Nov 21, 2018
X-linked intellectual disability1Mar 10, 2020
X-linked intellectual disability-hypotonic face syndrome3Mar 10, 2020
X-linked recessive nephrolithiasis with renal failure1Oct 3, 2019
X-linked sideroblastic anemia with ataxia1Oct 3, 2019
Xia-Gibbs syndrome1Oct 3, 2019
not specified32Mar 9, 2020
skeletal contractures1May 29, 2020
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