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Broad Institute Rare Disease Group (Broad Institute), Broad RDG

General information

Broad Institute Rare Disease Group, Broad RDG
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: 1898

Gene

GeneSubmissionsLast Updated
ABCA417Sep 29, 2021
ABCB71Oct 3, 2019
ABCC61Mar 10, 2020
ABCC86Mar 9, 2020
ABCD12May 4, 2022
ACAD81Mar 10, 2020
ACADS1Mar 10, 2020
ACSL41May 4, 2022
ACTA12May 4, 2022
ACTB1May 4, 2022
ACTG21Jun 27, 2018
ACTN21May 29, 2020
ACTN41Mar 10, 2020
ADA1Nov 17, 2020
ADARB12May 29, 2020
ADAT31Jun 27, 2018
ADGRG13May 4, 2022
ADSS11May 4, 2022
AGBL52Sep 29, 2021
AGTPBP12May 29, 2020
AGXT1Jun 27, 2018
AHDC11Oct 3, 2019
AHI16May 4, 2022
AIPL11Mar 10, 2020
ALDH3A23May 4, 2022
ALDH7A11May 4, 2022
ALG14May 4, 2022
ALMS18May 4, 2022
ALS24May 4, 2022
AMPD22May 4, 2022
AMT1May 4, 2022
ANK11Mar 10, 2020
ANK32May 4, 2022
ANO510May 29, 2020
ANTXR21Mar 10, 2020
AP3B22May 4, 2022
AP4E11Sep 26, 2018
APBB11Mar 9, 2020
APOA51Mar 9, 2020
APOB7Mar 9, 2020
AR1Mar 10, 2020
ARFGEF21Mar 10, 2020
ARHGEF182Oct 3, 2019
ARID1A1Sep 26, 2018
ARID1B2May 4, 2022
ARL61Sep 29, 2021
ARMC92May 4, 2022
ARSA1Oct 3, 2019
ARX1Sep 26, 2018
ASIC4-AS11Oct 3, 2019
ASL1Mar 10, 2020
ASNS6May 4, 2022
ASPA2Oct 3, 2019
ASPM9May 4, 2022
ASTN25Oct 3, 2019
ASXL32Oct 3, 2019
ATAD3A1May 4, 2022
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
ATP8A22May 4, 2022
ATPAF21Sep 26, 2018
ATRX4May 4, 2022
ATXN7L3-AS11May 29, 2020
AUTS21May 4, 2022
B3GALNT21Sep 26, 2018
B3GALT62Nov 17, 2020
B4GALNT11Nov 21, 2018
B9D11May 4, 2022
BAG31Sep 26, 2018
BBS17May 4, 2022
BBS210May 4, 2022
BBS44May 4, 2022
BBS51Sep 26, 2018
BCKDHA1Mar 10, 2020
BCL11B1May 29, 2020
BET12Feb 28, 2019
BLM1Oct 3, 2019
BOLA31May 4, 2022
BRAT11May 4, 2022
BRCA13Mar 9, 2020
BRCA23Mar 9, 2020
BTD1Mar 10, 2020
BVES1May 29, 2020
C11orf651Nov 21, 2018
C12orf432Mar 9, 2020
C12orf571May 4, 2022
C17orf1071May 4, 2022
C1QTNF52Oct 3, 2019
C2CD31May 4, 2022
CACNA1A1Nov 21, 2018
CACNA1F1Sep 29, 2021
CACNA1S1May 29, 2020
CAPN329Oct 3, 2019
CASK5May 4, 2022
CASP101Mar 10, 2020
CAT1Mar 10, 2020
CC2D2A3May 4, 2022
CCN61Mar 10, 2020
CCND21Oct 3, 2019
CCNH1Mar 10, 2020
CD461Mar 10, 2020
CDAN11May 4, 2022
CDH21May 29, 2020
CDHR18May 4, 2022
CDK101Oct 3, 2019
CDKL51May 4, 2022
CDKN2A1Mar 10, 2020
CEL2Mar 9, 2020
CELSR12Nov 17, 2020
CENPE1May 4, 2022
CENPJ2May 4, 2022
CEP1041Nov 21, 2018
CEP29010May 4, 2022
CERKL6May 4, 2022
CETP1Mar 10, 2020
CFAP4101Sep 29, 2021
CFAP4182May 4, 2022
CFAP418-AS12May 4, 2022
CFTR1Mar 10, 2020
CHAT3May 4, 2022
CHD72Oct 3, 2019
CHN11Nov 17, 2020
CHRNB21Mar 10, 2020
CHRND4May 4, 2022
CHRNE1May 4, 2022
CHST31Nov 21, 2018
CLCN12May 4, 2022
CLCN52Mar 10, 2020
CLCNKB1Mar 10, 2020
CLN32May 4, 2022
CLN52May 4, 2022
CLN66Mar 10, 2020
CLN83May 4, 2022
CLP11Oct 3, 2019
CLPB2May 4, 2022
CLRN12May 4, 2022
CLRN1-AS12May 4, 2022
CLTCL11Mar 10, 2020
CNGA12Sep 29, 2021
CNGA31Mar 10, 2020
CNGB15Sep 29, 2021
CNGB31Mar 10, 2020
CNKSR11Mar 10, 2020
CNNM41Sep 29, 2021
CNTNAP11Sep 26, 2018
COG53Nov 17, 2020
COL12A11May 4, 2022
COL13A12May 29, 2020
COL4A13May 4, 2022
COL4A53May 4, 2022
COL6A11Sep 26, 2018
COL6A26May 4, 2022
COL6A35May 4, 2022
COLQ3May 4, 2022
COQ22Oct 3, 2019
COQ8A1Mar 10, 2020
CPEB1-AS12May 4, 2022
CPLANE18Oct 3, 2019
CPS11Mar 10, 2020
CRB111May 4, 2022
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-ASNS6May 4, 2022
DCX1Nov 21, 2018
DDC1Nov 21, 2018
DEGS11May 29, 2020
DES2Mar 10, 2020
DHDDS4May 4, 2022
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
EYS22Sep 29, 2021
F81Mar 10, 2020
FAM126A1Sep 26, 2018
FAM161A2Sep 29, 2021
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
FLVCR12Sep 29, 2021
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
GAMT28Nov 2, 2021
GATA31May 29, 2020
GATA41Mar 10, 2020
GBA45Mar 9, 2020
GBE147Feb 11, 2022
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
GNAT11Sep 29, 2021
GNB11May 4, 2022
GNPTAB1Mar 10, 2020
GOT22May 29, 2020
GPHN7May 29, 2020
GREB1L1May 29, 2020
GRIN11Oct 3, 2019
GUCY2D1Sep 29, 2021
H1-41Oct 3, 2019
H3-3B1Nov 17, 2020
HADH9Nov 2, 2021
HEXA1Mar 10, 2020
HGSNAT2Sep 29, 2021
HIBCH1Nov 21, 2018
HK12May 29, 2020
HNF1A42Mar 9, 2020
HNF1B12May 29, 2020
HNF4A12Mar 10, 2020
HNRNPU1May 29, 2020
HOXB11Sep 26, 2018
HPS130Feb 11, 2022
HR2Mar 10, 2020
HS6ST11Mar 10, 2020
HSD11B11Mar 10, 2020
HSD11B1-AS11Mar 10, 2020
HSPB81May 29, 2020
HSPG22Nov 21, 2018
HTRA21Mar 10, 2020
IDH3A2Sep 29, 2021
IDUA34Mar 9, 2020
IFIH11Jun 27, 2018
IFT1404Sep 29, 2021
IFT1723Sep 29, 2021
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
KIF112Sep 29, 2021
KIF141May 29, 2020
KIF1A1Oct 3, 2019
KIF1C2Oct 3, 2019
KIF5B1Nov 17, 2020
KIT1Mar 10, 2020
KIZ1Nov 17, 2020
KLF9-DT1Nov 17, 2020
KLHL71Sep 29, 2021
KMT2D2May 29, 2020
KMT2E32Feb 11, 2019
KRT81Mar 10, 2020
KRTCAP31Sep 29, 2021
LAMA23Nov 17, 2020
LAMA51Nov 17, 2020
LAMB21Sep 26, 2018
LAMC32Oct 3, 2019
LCA51Sep 29, 2021
LDLR65Mar 9, 2020
LDLR-AS11Mar 9, 2020
LIX1L-AS11Oct 3, 2019
LMNA5Mar 9, 2020
LMNB21Mar 10, 2020
LOC1005074433Mar 10, 2020
LOC1019271572Sep 29, 2021
LOC1053710462Sep 29, 2021
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
MACF11May 4, 2022
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
MERTK4Sep 29, 2021
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
NPHP43Sep 29, 2021
NPHS17Mar 10, 2020
NPHS22Oct 3, 2019
NR2E32Sep 29, 2021
NRL2Sep 29, 2021
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
PCARE4Sep 29, 2021
PCDH122May 29, 2020
PCDH191Nov 21, 2018
PCGF21Mar 6, 2019
PCLO1Nov 21, 2018
PCNT1Mar 10, 2020
PCSK94Mar 9, 2020
PDE11A1Mar 10, 2020
PDE6A5Sep 29, 2021
PDE6B16Sep 29, 2021
PDE6B-AS14Sep 29, 2021
PDX16Mar 10, 2020
PEX101Mar 10, 2020
PEX161Oct 3, 2019
PGAP31Nov 21, 2018
PHF35Sep 29, 2021
PHGDH1Sep 26, 2018
PHKB1Mar 10, 2020
PHYH3Sep 29, 2021
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
POMGNT12Sep 29, 2021
POMK2Oct 3, 2019
POMT12Oct 3, 2019
POMT23Oct 3, 2019
PORCN1Oct 3, 2019
PPARG2Mar 9, 2020
PPT15Sep 29, 2021
PRDM161Mar 10, 2020
PRDM21Mar 10, 2020
PRF11Mar 10, 2020
PRKAG21Mar 10, 2020
PRKN2Mar 10, 2020
PROM11Sep 29, 2021
PROS11Mar 10, 2020
PRPF31Sep 29, 2021
PRPF318Sep 29, 2021
PRPF31-AS13Sep 29, 2021
PRPF84Sep 29, 2021
PRPH21Sep 29, 2021
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
RHO4Sep 29, 2021
RIF12Oct 3, 2019
RIT11Oct 3, 2019
RNASEH2B1Nov 21, 2018
RNASET21Oct 3, 2019
RNF142May 29, 2020
RORA1May 29, 2020
RORA-AS11May 29, 2020
RP16Sep 29, 2021
RP21Mar 10, 2020
RPE654Sep 29, 2021
RPGR24Sep 29, 2021
RPGRIP19Sep 29, 2021
RPGRIP1L1Sep 26, 2018
RPL111May 4, 2022
RPL36A-HNRNPH229Mar 9, 2020
RPS191Mar 10, 2020
RPS291Oct 3, 2019
RTN4IP11May 13, 2020
RYR111Nov 17, 2020
RYR23Mar 9, 2020
SALL11May 29, 2020
SAMD112Sep 29, 2021
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
SELENON1May 4, 2022
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
SLC13A515Nov 2, 2021
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
SLC2A12May 4, 2022
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
SNRNP2003Sep 29, 2021
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
TANGO211Nov 2, 2021
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
TOPORS1Sep 29, 2021
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
TRIT11May 4, 2022
TRPM11Sep 26, 2018
TRPM31Nov 17, 2020
TRPV41Mar 10, 2020
TSC21Mar 9, 2020
TSEN541Oct 3, 2019
TSPAN12Sep 29, 2021
TTC21B3Mar 10, 2020
TTC21B-AS11Jul 1, 2017
TTN16Oct 3, 2019
TTN-AS110Oct 3, 2019
TUBA1A3Oct 3, 2019
TUBB2A1Oct 3, 2019
TUBG11Oct 3, 2019
TULP16Sep 29, 2021
UBA52Jun 27, 2018
UBTF1May 29, 2020
UNC801Nov 21, 2018
USH2A45Sep 29, 2021
USH2A-AS13Sep 29, 2021
USH2A-AS22Sep 29, 2021
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
WDR192Sep 29, 2021
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
ZDHHC245May 4, 2022
ZFYVE261May 29, 2020
ZNF4621May 29, 2020
ZNF6991Nov 17, 2020
ZNHIT31May 29, 2020

Condition

NameSubmissionsLast Updated
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia2May 4, 2022
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1Oct 3, 2019
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
Actin accumulation myopathy1May 4, 2022
Adrenoleukodystrophy1Oct 3, 2019
Adult polyglucosan body disease6Feb 11, 2022
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
Alstrom syndrome4May 4, 2022
Androgen resistance syndrome1Mar 10, 2020
Anemia, congenital dyserythropoietic, type 1a1May 4, 2022
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
Ataxia-pancytopenia syndrome1Oct 3, 2019
Ataxia-telangiectasia syndrome1Nov 21, 2018
Auriculocondylar syndrome 21Sep 26, 2018
Autistic disorder2Mar 10, 2020
Autosomal dominant Parkinson disease 81Mar 10, 2020
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1Sep 26, 2018
Autosomal dominant nocturnal frontal lobe epilepsy 31Mar 10, 2020
Autosomal dominant nonsyndromic hearing loss 61Mar 10, 2020
Autosomal recessive congenital ichthyosis 11Mar 10, 2020
Autosomal recessive juvenile Parkinson disease 22Mar 10, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2A29Oct 3, 2019
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 limb-girdle muscular dystrophy type 2I1Oct 3, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2J14Oct 3, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2L8Oct 3, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2N2Oct 3, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2O1Oct 3, 2019
Autosomal recessive limb-girdle muscular dystrophy type 2U1Oct 3, 2019
Autosomal recessive nonsyndromic hearing loss 91Mar 10, 2020
Autosomal recessive polycystic kidney disease4Sep 26, 2018
Autosomal recessive spinocerebellar ataxia 171Oct 3, 2019
Autosomal recessive spinocerebellar ataxia 201Sep 26, 2018
Bailey-Bloch congenital myopathy3Mar 10, 2020
Baraitser-Winter syndrome 11May 4, 2022
Bardet-Biedl syndrome1Jul 1, 2017
Bardet-Biedl syndrome 11May 4, 2022
Bardet-Biedl syndrome 163Mar 10, 2020
Bardet-Biedl syndrome 22Sep 26, 2018
Bardet-Biedl syndrome 42May 4, 2022
Bardet-Biedl syndrome 51Sep 26, 2018
Benign scapuloperoneal muscular dystrophy with cardiomyopathy1Oct 3, 2019
Beta-hydroxyisobutyryl-CoA deacylase deficiency1Nov 21, 2018
Bethlem myopathy 13May 4, 2022
Bethlem myopathy 21May 4, 2022
Bilateral frontoparietal polymicrogyria3May 4, 2022
Biotin-responsive basal ganglia disease1Sep 26, 2018
Biotinidase deficiency1Mar 10, 2020
Bloom syndrome1Oct 3, 2019
Bone marrow failure syndrome 31Oct 3, 2019
Bradyopsia1Sep 26, 2018
Brain small vessel disease 1 with or without ocular anomalies3May 4, 2022
Breast-ovarian cancer, familial, susceptibility to, 23Mar 9, 2020
CHARGE association1Jun 27, 2018
CODAS syndrome2Oct 3, 2019
COG5-CDG3Nov 17, 2020
Capillary malformation-arteriovenous malformation 11Mar 10, 2020
Cataract 2, multiple types1Mar 10, 2020
Central core myopathy13Nov 17, 2020
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 12Oct 3, 2019
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 42May 4, 2022
Cerebral atrophy1Oct 5, 2020
Cerebral creatine deficiency syndrome28Nov 2, 2021
Cerebral folate transport deficiency1Mar 10, 2020
Cerebral hypomyelination2May 29, 2020
Ceroid lipofuscinosis, neuronal, 6A4Oct 3, 2019
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)1Mar 10, 2020
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1Mar 10, 2020
Charcot-Marie-Tooth disease axonal type 2C1Mar 10, 2020
Childhood onset GLUT1 deficiency syndrome 21May 4, 2022
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 12May 4, 2022
Cohen syndrome2Nov 21, 2018
Combined oxidative phosphorylation defect type 132Jun 27, 2018
Combined oxidative phosphorylation deficiency 351May 4, 2022
Complex I deficiency1Mar 10, 2020
Complex cortical dysplasia with other brain malformations 41Oct 3, 2019
Complex cortical dysplasia with other brain malformations 51Oct 3, 2019
Complex neurodevelopmental disorder1May 29, 2020
Cone-rod dystrophy 153May 4, 2022
Cone-rod dystrophy 161May 4, 2022
Cone-rod dystrophy 201Jun 27, 2018
Cone-rod dystrophy 34Oct 3, 2019
Congenital anomalies of kidney and urinary tract 11May 29, 2020
Congenital anomaly of kidney and urinary tract3May 29, 2020
Congenital diarrhea 5 with tufting enteropathy1Nov 21, 2018
Congenital disorder of glycosylation1May 4, 2022
Congenital hyperammonemia, type I1Mar 10, 2020
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome6May 4, 2022
Congenital muscular dystrophy due to LMNA mutation1Sep 26, 2018
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome1May 29, 2020
Congenital myasthenic syndrome 192May 29, 2020
Congenital myasthenic syndrome 211May 29, 2020
Congenital myasthenic syndrome 3A1May 4, 2022
Congenital myasthenic syndrome 3B2May 4, 2022
Congenital myasthenic syndrome 3C1May 4, 2022
Congenital myasthenic syndrome 4A1May 4, 2022
Congenital myasthenic syndrome 53May 4, 2022
Congenital myopathy2Nov 17, 2020
Congenital myopathy with fiber type disproportion1Nov 17, 2020
Congenital myotonia, autosomal dominant form1May 4, 2022
Congenital myotonia, autosomal recessive form1May 4, 2022
Congenital nonprogressive myopathy with Moebius and Robin sequences3Nov 17, 2020
Congenital omphalocele1Nov 17, 2020
Congenital stationary night blindness 1C1Sep 26, 2018
Corpus callosum, agenesis of1May 29, 2020
Cortisone reductase deficiency 21Mar 10, 2020
Creatine transporter deficiency1Mar 10, 2020
Cutis laxa with osteodystrophy1Oct 3, 2019
Cystic fibrosis1Mar 10, 2020
Cystic leukoencephalopathy without megalencephaly1Oct 3, 2019
Cytochrome-c oxidase deficiency disease1Oct 3, 2019
Deficiency of aromatic-L-amino-acid decarboxylase1Nov 21, 2018
Deficiency of isobutyryl-CoA dehydrogenase1Mar 10, 2020
Developmental and epileptic encephalopathy, 11Sep 26, 2018
Developmental and epileptic encephalopathy, 121Oct 3, 2019
Developmental and epileptic encephalopathy, 171Sep 26, 2018
Developmental and epileptic encephalopathy, 182Oct 3, 2019
Developmental and epileptic encephalopathy, 21May 4, 2022
Developmental and epileptic encephalopathy, 2515Nov 2, 2021
Developmental and epileptic encephalopathy, 261Nov 21, 2018
Developmental and epileptic encephalopathy, 282Mar 10, 2020
Developmental and epileptic encephalopathy, 421Nov 21, 2018
Developmental and epileptic encephalopathy, 442Jun 27, 2018
Developmental and epileptic encephalopathy, 482May 4, 2022
Developmental and epileptic encephalopathy, 541May 29, 2020
Developmental and epileptic encephalopathy, 651May 29, 2020
Developmental and epileptic encephalopathy, 91Nov 21, 2018
Developmental regression1Mar 11, 2020
Dextrocardia1May 29, 2020
Diamond-Blackfan anemia1Nov 17, 2020
Diamond-Blackfan anemia 11Mar 10, 2020
Diamond-Blackfan anemia 131Oct 3, 2019
Diamond-Blackfan anemia 71May 4, 2022
Diastrophic dysplasia2Mar 10, 2020
Diencephalic-mesencephalic junction dysplasia2May 29, 2020
Dilated cardiomyopathy 1I1Mar 10, 2020
Dilated cardiomyopathy 1KK1Mar 10, 2020
Distal myopathy with posterior leg and anterior hand involvement1Jun 27, 2018
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 with suppression bursts2May 29, 2020
Early myoclonic encephalopathy1Oct 3, 2019
Early-onset myopathy with fatal cardiomyopathy2Jun 27, 2018
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome6Nov 17, 2020
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type1Nov 21, 2018
Eichsfeld type congenital muscular dystrophy1May 4, 2022
Elliptocytosis 21Oct 3, 2019
Encephalopathy due to GLUT1 deficiency1Sep 26, 2018
Encephalopathy due to prosaposin deficiency1Jul 1, 2017
Epidermolysis bullosa simplex, Ogna type1Mar 10, 2020
Epilepsy, idiopathic generalized, susceptibility to, 141Mar 10, 2020
Exudative vitreoretinopathy 11Mar 10, 2020
Fabry disease29Mar 9, 2020
Facial paresis, hereditary congenital, 31Sep 26, 2018
Familial Mediterranean fever, autosomal dominant1Jul 1, 2017
Familial hemophagocytic lymphohistiocytosis 21Mar 10, 2020
Familial hypercholesterolemia28Mar 9, 2020
Familial hypobetalipoproteinemia 13Mar 9, 2020
Familial hypokalemia-hypomagnesemia4Mar 10, 2020
Familial infantile myasthenia2May 4, 2022
Familial partial lipodystrophy2Mar 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
Galactosylceramide beta-galactosidase deficiency3Mar 10, 2020
Galloway-Mowat syndrome1May 29, 2020
Galloway-Mowat syndrome 12Mar 10, 2020
Gaucher disease37Mar 9, 2020
Gaucher disease type I8Mar 9, 2020
Global developmental delay3Jun 1, 2020
Glycogen storage disease IXb1Mar 10, 2020
Glycogen storage disease, type II211Mar 9, 2020
Glycogen storage disease, type IV41Feb 11, 2022
Glycoprotein storage disease1Mar 9, 2020
Harel-Yoon syndrome1May 4, 2022
Hemiparkinsonism-hemiatrophy syndrome1Nov 17, 2020
Hepatocellular carcinoma1Mar 10, 2020
Hereditary North American Indian childhood cirrhosis1Mar 10, 2020
Hereditary factor VIII deficiency disease1Mar 10, 2020
Hereditary spastic paraplegia 114Mar 10, 2020
Hereditary spastic paraplegia 261Nov 21, 2018
Hereditary spastic paraplegia 511Sep 26, 2018
Hereditary spastic paraplegia 561Sep 26, 2018
Hereditary spastic paraplegia 5A2Nov 21, 2018
Hereditary spherocytosis type 11Mar 10, 2020
Hereditary spherocytosis type 23Oct 3, 2019
Hereditary spherocytosis type 41Mar 10, 2020
Hereditary xanthinuria type 11Mar 10, 2020
Hermansky-Pudlak syndrome30Feb 11, 2022
Hirschsprung disease, susceptibility to, 41Mar 10, 2020
Holoprosencephaly 91Mar 10, 2020
Hyperalphalipoproteinemia 11Mar 10, 2020
Hypercholesterolemia, autosomal dominant, 31Mar 9, 2020
Hypercholesterolemia, autosomal dominant, type B3Mar 9, 2020
Hypercholesterolemia, familial, 139Mar 9, 2020
Hyperekplexia 11Mar 10, 2020
Hyperekplexia 31Mar 10, 2020
Hyperinsulinemic hypoglycemia, familial, 11Mar 9, 2020
Hyperinsulinemic hypoglycemia, familial, 49Nov 2, 2021
Hyperlipidemia, familial combined, LPL related4Mar 9, 2020
Hypermanganesemia with dystonia 21Nov 17, 2020
Hyperphosphatasia with intellectual disability syndrome 41Nov 21, 2018
Hypertelorism and tetralogy of fallot1Nov 17, 2020
Hypertriglyceridemia3Mar 10, 2020
Hypertrophic cardiomyopathy2Nov 17, 2020
Hypertrophic cardiomyopathy 21Oct 3, 2019
Hypertrophic cardiomyopathy 251Mar 10, 2020
Hypertrophic cardiomyopathy 261Oct 3, 2019
Hypertrophic cardiomyopathy 32Oct 3, 2019
Hypertrophic cardiomyopathy 42Oct 3, 2019
Hypertrophic cardiomyopathy 71Oct 3, 2019
Hypogonadotropic hypogonadism 15 with or without anosmia1Mar 10, 2020
Hypogonadotropic hypogonadism 5 with or without anosmia1Oct 3, 2019
Hypomyelinating leukodystrophy 101Jun 27, 2018
Hypomyelinating leukodystrophy 122Nov 17, 2020
Hypomyelinating leukodystrophy 21Nov 21, 2018
Hypomyelinating leukodystrophy 91Nov 21, 2018
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
Infantile epilepsy1Mar 10, 2020
Infantile neuroaxonal dystrophy2Nov 21, 2018
Infantile-onset ascending hereditary spastic paralysis3May 4, 2022
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 disability6May 4, 2022
Intellectual disability, X-linked 1021Mar 10, 2020
Intellectual disability, X-linked 1041Nov 21, 2018
Intellectual disability, X-linked 1061May 29, 2020
Intellectual disability, X-linked 991Mar 10, 2020
Intellectual disability, X-linked, syndromic 331Sep 26, 2018
Intellectual disability, autosomal dominant 143Mar 10, 2020
Intellectual disability, autosomal dominant 221Oct 3, 2019
Intellectual disability, autosomal dominant 421May 4, 2022
Intellectual disability, autosomal dominant 571May 4, 2022
Intellectual disability, autosomal dominant 81Oct 3, 2019
Intellectual disability, autosomal dominant 91Oct 3, 2019
Intellectual disability, autosomal recessive 51Nov 21, 2018
Intellectual disability, autosomal recessive 571May 29, 2020
Intellectual disability, autosomal recessive 662May 4, 2022
Intellectual disability-strabismus syndrome1Jun 27, 2018
Isolated Pierre-Robin syndrome1Jun 27, 2018
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 271May 4, 2022
Joubert syndrome 37May 4, 2022
Joubert syndrome 302May 4, 2022
Joubert syndrome 55May 4, 2022
Joubert syndrome 68Oct 3, 2019
Joubert syndrome 72Mar 10, 2020
Joubert syndrome 94May 4, 2022
Juvenile amyotrophic lateral sclerosis1May 4, 2022
Kabuki syndrome 14May 29, 2020
King Denborough syndrome2Mar 9, 2020
LAMB2-related infantile-onset nephrotic syndrome2Mar 10, 2020
Lafora disease1Oct 3, 2019
Late-onset retinal degeneration2Oct 3, 2019
Leber congenital amaurosis1May 29, 2020
Leber congenital amaurosis 104May 4, 2022
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, 181May 29, 2020
Leukoencephalopathy1Mar 11, 2020
Limb-girdle muscular dystrophy3May 29, 2020
Limb-girdle muscular dystrophy due to POMK deficiency2Oct 3, 2019
Lipodystrophy2Mar 9, 2020
Lissencephaly1May 4, 2022
Lissencephaly due to LIS1 mutation2Jun 27, 2018
Lissencephaly due to TUBA1A mutation4Mar 10, 2020
Lissencephaly type 1 due to doublecortin gene mutation1Nov 21, 2018
Low bone mineral density1Mar 10, 2020
MGAT2-CDG2Sep 26, 2018
MYH7-related skeletal myopathy2Oct 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 18Mar 9, 2020
Maturity-onset diabetes of the young type 220Mar 9, 2020
Maturity-onset diabetes of the young type 333Mar 9, 2020
Maturity-onset diabetes of the young type 44Mar 9, 2020
Maturity-onset diabetes of the young type 82Mar 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
Merosin deficient congenital muscular dystrophy3Nov 17, 2020
Metachromatic leukodystrophy1Oct 3, 2019
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1Mar 10, 2020
Metopic ridging-ptosis-facial dysmorphism syndrome1May 29, 2020
Microcephaly 13, primary, autosomal recessive1May 4, 2022
Microcephaly 20, primary, autosomal recessive1May 29, 2020
Microcephaly 5, primary, autosomal recessive10May 4, 2022
Microcephaly 6, primary, autosomal recessive2May 4, 2022
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability1Sep 26, 2018
Microcephaly, seizures, and developmental delay1Oct 3, 2019
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant3Mar 10, 2020
Mitochondrial DNA depletion syndrome 131Nov 21, 2018
Mitochondrial complex I deficiency2Nov 17, 2020
Mitochondrial complex I deficiency, nuclear type 11Oct 3, 2019
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11Sep 26, 2018
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome5May 29, 2020
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency2Nov 17, 2020
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 myopathy1May 29, 2020
Multiple mitochondrial dysfunctions syndrome 21May 4, 2022
Muscular atrophy1May 29, 2020
Muscular dystrophy1Jul 1, 2017
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 (congenital with intellectual disability), type B11Jul 1, 2017
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B21Sep 26, 2018
Muscular dystrophy-dystroglycanopathy type B51May 29, 2020
Myeloperoxidase deficiency1Mar 10, 2020
Myhre syndrome1Jul 1, 2017
Myofibrillar myopathy 11Oct 3, 2019
Myofibrillar myopathy 63Mar 10, 2020
Myofibrillar myopathy 81May 29, 2020
Myopathy, centronuclear, 54Mar 10, 2020
Myopathy, congenital, with structured cores and z-line abnormalities1May 29, 2020
Myopathy, distal, 51May 4, 2022
Myopathy, lactic acidosis, and sideroblastic anemia 21Oct 3, 2019
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 22Oct 3, 2019
Nephrotic syndrome, type 31Sep 26, 2018
Nephrotic syndrome, type 41Jul 1, 2017
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures3May 4, 2022
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 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 21Oct 3, 2019
Neuronal ceroid lipofuscinosis 31May 4, 2022
Neuronal ceroid lipofuscinosis 52May 4, 2022
Neuronal ceroid lipofuscinosis 71Oct 3, 2019
Neuronal ceroid lipofuscinosis 82May 4, 2022
Neuronopathy, distal hereditary motor, type 2A1May 29, 2020
Neuropathy, hereditary sensory and autonomic, type 1A1Nov 17, 2020
Niemann-Pick disease, type A1Mar 9, 2020
Niemann-Pick disease, type C12Oct 3, 2019
Non-ketotic hyperglycinemia2May 4, 2022
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
Obesity13Mar 9, 2020
Orofaciodigital syndrome type 141May 4, 2022
PEHO syndrome1May 29, 2020
PHGDH deficiency1Sep 26, 2018
PMM2-CDG1Nov 21, 2018
PPARG-related familial partial lipodystrophy1Mar 9, 2020
Pancytopenia-developmental delay syndrome1Oct 3, 2019
Parkinson disease 13, autosomal dominant, susceptibility to1Mar 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
Periventricular heterotopia with microcephaly, autosomal recessive1Mar 10, 2020
Peroxisome biogenesis disorder 6A (Zellweger)1Mar 10, 2020
Peroxisome biogenesis disorder 8A (Zellweger)1Oct 3, 2019
Phelan-McDermid syndrome1Nov 21, 2018
Polycystic kidney disease, adult type1Oct 3, 2019
Pontocerebellar hypoplasia type 101Oct 3, 2019
Pontocerebellar hypoplasia type 1A1Nov 21, 2018
Pontocerebellar hypoplasia type 1B1Oct 3, 2019
Pontocerebellar hypoplasia type 2A1Oct 3, 2019
Pontocerebellar hypoplasia type 2D1Nov 21, 2018
Pontocerebellar hypoplasia type 31Nov 21, 2018
Pontocerebellar hypoplasia type 92May 4, 2022
Pontocerebellar hypoplasia, type 111May 29, 2020
Pontocerebellar hypoplasia, type 1C2Oct 3, 2019
Pontocerebellar hypoplasia, type 1D1May 29, 2020
Premature ovarian failure2Mar 10, 2020
Primary erythromelalgia1Mar 10, 2020
Primary hyperoxaluria, type I1Jun 27, 2018
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41Mar 10, 2020
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome1Nov 21, 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
Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant1May 4, 2022
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
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome11Nov 2, 2021
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 pigmentosa240Sep 29, 2021
Retinitis pigmentosa 11Mar 10, 2020
Retinitis pigmentosa 111Oct 3, 2019
Retinitis pigmentosa 122May 4, 2022
Retinitis pigmentosa 21Mar 10, 2020
Retinitis pigmentosa 262May 4, 2022
Retinitis pigmentosa 31Oct 3, 2019
Retinitis pigmentosa 331Oct 3, 2019
Retinitis pigmentosa 392Jul 1, 2017
Retinitis pigmentosa 41Sep 26, 2018
Retinitis pigmentosa 402Nov 17, 2020
Retinitis pigmentosa 592May 4, 2022
Retinitis pigmentosa 691Nov 17, 2020
Retinitis pigmentosa 744May 4, 2022
Retinitis pigmentosa 782Oct 3, 2019
Retinitis pigmentosa 792May 29, 2020
Rh-null, regulator type1Mar 10, 2020
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
Seizure3Mar 10, 2020
Severe autosomal recessive muscular dystrophy of childhood - North African type3Oct 3, 2019
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1Nov 17, 2020
Severe early-childhood-onset retinal dystrophy3Mar 10, 2020
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome2Oct 3, 2019
Short stature2Jun 1, 2020
Sjögren-Larsson syndrome3May 4, 2022
Spastic ataxia 22Oct 3, 2019
Spermatogenic Failure2Mar 10, 2020
Sphingolipid activator protein 1 deficiency1Oct 3, 2019
Sphingomyelin/cholesterol lipidosis54Mar 9, 2020
Spinocerebellar ataxia type 291Oct 3, 2019
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
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1Oct 3, 2019
Syndromic X-linked intellectual disability Claes-Jensen type1Oct 3, 2019
Syndromic X-linked intellectual disability Najm type5May 4, 2022
Syndromic intellectual disability3May 29, 2020
Tay-Sachs disease1Mar 10, 2020
Temtamy syndrome1May 4, 2022
Tetralogy of Fallot1Mar 10, 2020
Townes-Brocks syndrome 11May 29, 2020
Type 2 diabetes mellitus5Mar 10, 2020
Ullrich congenital muscular dystrophy 110May 4, 2022
Usher syndrome type 2A3Oct 3, 2019
Usher syndrome type 2C4Mar 10, 2020
Usher syndrome type 3A1May 4, 2022
VATER association1May 29, 2020
Van Maldergem syndrome 22Oct 3, 2019
Visceral myopathy1Jun 27, 2018
Vitamin D-dependent rickets type II with alopecia2Mar 10, 2020
Walker-Warburg congenital muscular dystrophy2Nov 17, 2020
Warburg micro syndrome 11Nov 21, 2018
Wieacker-Wolff syndrome2Nov 17, 2020
X-linked Alport syndrome4May 4, 2022
X-linked cerebral adrenoleukodystrophy1May 4, 2022
X-linked intellectual disability1Mar 10, 2020
X-linked intellectual disability-hypotonic face syndrome5May 4, 2022
X-linked intellectual disability-short stature-overweight syndrome2Mar 10, 2020
X-linked recessive nephrolithiasis with renal failure1Oct 3, 2019
X-linked sideroblastic anemia with ataxia1Oct 3, 2019
not specified32Mar 9, 2020
skeletal contractures1May 29, 2020
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