New York Genome Center

General information

New York Genome Center

101 Avenue of the Americas
New York
New York
United States - 10013
http://www.nygenome.org
Organization ID: 507558

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1468

Gene

GeneSubmissionsLast Updated
A2ML11Dec 4, 2020
AASS1May 17, 2021
ACADSB3Jul 22, 2021
ACAN1Jul 31, 2020
ACBD61Aug 30, 2021
ACSL41Aug 30, 2021
ACTL6B2May 17, 2021
ACTN21Oct 13, 2020
ADA21Jul 22, 2021
ADAM171May 17, 2021
ADAM221Dec 4, 2020
ADAR1Feb 5, 2021
ADD31Oct 13, 2020
ADGRG11Sep 3, 2020
ADGRV19May 17, 2021
ADRA2B2Aug 30, 2021
AFF32Jul 22, 2021
AFF42Aug 30, 2021
AGK1Jul 31, 2020
AGO11Feb 5, 2021
AHDC12Feb 5, 2021
AHI11Aug 30, 2021
AIRE3May 17, 2021
AKAP62Feb 5, 2021
ALDH5A13Jul 22, 2021
ALDH7A12Jul 22, 2021
ALG12Jul 22, 2021
ALG31Dec 4, 2020
ALG91Jul 22, 2021
ALKBH81May 17, 2021
AMACR1Jul 31, 2020
AMT1Oct 13, 2020
ANK23Jul 22, 2021
ANK37Jul 22, 2021
ANKRD116Aug 30, 2021
AP1S21Feb 5, 2021
AP2M11Oct 13, 2020
AP3B23Aug 30, 2021
AP4M11Oct 13, 2020
AP4S11May 17, 2021
APC1Jul 22, 2021
APC23Jul 22, 2021
ARFGEF1-DT1Jul 31, 2020
ARFGEF21Oct 13, 2020
ARHGEF152May 17, 2021
ARHGEF92Jul 22, 2021
ARID1A8Aug 30, 2021
ARID1B9Aug 30, 2021
ARID21Jul 31, 2020
ARPC1B1Aug 30, 2021
ARPIN1Sep 3, 2020
ARPIN-AP3S21Sep 3, 2020
ARX1May 17, 2021
ASH1L8Aug 30, 2021
ASIC4-AS11Sep 3, 2020
ASPM1Feb 5, 2021
ASXL22Aug 30, 2021
ASXL31Jul 22, 2021
ATAD3A2Aug 30, 2021
ATM1Oct 13, 2020
ATP2A22May 17, 2021
ATP6V0A21May 17, 2021
ATP6V1A2Aug 30, 2021
ATP8A22Jul 22, 2021
ATR1May 17, 2021
ATRIP2Feb 5, 2021
ATRIP-TREX12Feb 5, 2021
ATRX2May 17, 2021
AUTS24Aug 30, 2021
AVEN2May 17, 2021
B9D12Feb 5, 2021
BAZ2B1Dec 4, 2020
BBS41Oct 13, 2020
BBS91Oct 13, 2020
BCKDK1Jul 31, 2020
BCL11B1Sep 3, 2020
BCOR2May 17, 2021
BCORL12Aug 30, 2021
BOD11Oct 13, 2020
BPTF4Dec 4, 2020
BRAT12Feb 5, 2021
BRCA22Dec 4, 2020
BRD42Sep 3, 2020
BRPF11Sep 3, 2020
BRSK21Jul 31, 2020
BSCL21Jul 31, 2020
BTD1Oct 13, 2020
C12orf571Feb 5, 2021
C1QTNF3-AMACR1Jul 31, 2020
C1orf1051Feb 5, 2021
C22orf312Oct 13, 2020
C2CD31Aug 30, 2021
C61Feb 5, 2021
CACNA1A2Jul 22, 2021
CACNA1B5May 17, 2021
CACNA1C3Aug 30, 2021
CACNA1C-AS11Feb 5, 2021
CACNA1D4Jul 22, 2021
CACNA1E7Aug 30, 2021
CACNA1G4Aug 30, 2021
CACNA1H7Jul 22, 2021
CACNA2D23Jul 22, 2021
CACNB41Jul 22, 2021
CACNG21Dec 4, 2020
CAD3Aug 30, 2021
CAMK2B1May 17, 2021
CAMK2G1Aug 30, 2021
CAMTA14Oct 13, 2020
CAPRIN11May 17, 2021
CARD141Aug 30, 2021
CASP82Jul 22, 2021
CATIP-AS21Jul 22, 2021
CAV11Aug 30, 2021
CBL3Jul 22, 2021
CC2D1A2May 17, 2021
CC2D2A2Oct 13, 2020
CCDC85C1Feb 5, 2021
CCDC88C1Jul 22, 2021
CCNK1Feb 5, 2021
CD3G1Jul 22, 2021
CDC42BPB3Jul 22, 2021
CDH152Aug 30, 2021
CDK131Sep 3, 2020
CDK161Sep 3, 2020
CDKL51Jul 22, 2021
CDKN1C1May 17, 2021
CDSN1Jul 22, 2021
CERT12Feb 5, 2021
CFAP731Oct 13, 2020
CHAMP11Sep 3, 2020
CHD13Aug 30, 2021
CHD1L1Aug 30, 2021
CHD24May 17, 2021
CHD35Jul 22, 2021
CHD42Feb 5, 2021
CHD75Jul 22, 2021
CHD84May 17, 2021
CHMP1A1Jul 22, 2021
CHRNA23Aug 30, 2021
CHRNA43Aug 30, 2021
CHRNB23Feb 5, 2021
CHRNG1Oct 13, 2020
CIC9Jul 22, 2021
CIITA2Jul 22, 2021
CILK11Jul 31, 2020
CIT1Oct 13, 2020
CLASP12Oct 13, 2020
CLCN11Aug 30, 2021
CLCN42Feb 5, 2021
CLIP11Sep 3, 2020
CLN31Jul 31, 2020
CLN83Feb 5, 2021
CLTC1Aug 30, 2021
CNKSR23Aug 30, 2021
CNOT12Oct 13, 2020
CNOT31Jul 22, 2021
CNTN22May 17, 2021
CNTNAP24Jul 22, 2021
COASY1Feb 5, 2021
COG21Feb 5, 2021
COG41Dec 4, 2020
COG81May 17, 2021
COL11A13Jul 22, 2021
COL18A13May 17, 2021
COL4A26Jul 22, 2021
COL4A2-AS11Dec 4, 2020
COL5A11Oct 13, 2020
COX201Jul 22, 2021
CPA62Dec 4, 2020
CPEB1-AS12Aug 30, 2021
CRAT1Feb 5, 2021
CREBBP8May 17, 2021
CRYM1Feb 5, 2021
CSNK2B1Feb 5, 2021
CTLA41Feb 5, 2021
CTNNA31Sep 3, 2020
CTNNB11Jul 22, 2021
CTSA1Jul 31, 2020
CTSD1Jul 31, 2020
CUX12Aug 30, 2021
CUX22May 17, 2021
CWF19L12Feb 5, 2021
CYP21A21Oct 13, 2020
D2HGDH1Jul 31, 2020
DAG11Oct 13, 2020
DCLRE1C1May 17, 2021
DDX3X1Oct 13, 2020
DDX543Aug 30, 2021
DEAF11Aug 30, 2021
DENND5A1Oct 13, 2020
DEPDC56Jul 22, 2021
DEPDC71Dec 4, 2020
DHCR241Jul 22, 2021
DHCR71Oct 13, 2020
DHDDS2May 17, 2021
DHX301Aug 30, 2021
DHX343Jul 22, 2021
DHX371Aug 30, 2021
DHX581Sep 3, 2020
DIAPH11May 17, 2021
DLG41Feb 5, 2021
DMD2Aug 30, 2021
DNAH111Jul 22, 2021
DNAH52Aug 30, 2021
DNAH71Dec 4, 2020
DNAJC51Sep 3, 2020
DNHD12Oct 13, 2020
DNM11Aug 30, 2021
DNMT11Dec 4, 2020
DNMT3A3Aug 30, 2021
DOCK72Sep 3, 2020
DOCK83May 17, 2021
DONSON1Oct 13, 2020
DOP1B1Oct 13, 2020
DPF21Aug 30, 2021
DPP62Aug 30, 2021
DPYD1May 17, 2021
DSCAM1Aug 30, 2021
DUSP291Jul 31, 2020
DYM1Aug 30, 2021
DYNC1H17Aug 30, 2021
DYRK1A1Dec 4, 2020
EBF31Jul 22, 2021
EEF2KMT1Jul 22, 2021
EFHC11Aug 30, 2021
EFTUD21May 17, 2021
EHMT13Jul 22, 2021
EIF2B11Jul 31, 2020
EIF3F2Feb 5, 2021
EMX22Dec 4, 2020
EMX2OS2Dec 4, 2020
ENG1Dec 4, 2020
EP3001Jul 31, 2020
EPG51Feb 5, 2021
EPM2A2Oct 13, 2020
EPM2A-DT1Oct 13, 2020
ERMARD1Jul 31, 2020
EXOSC31Jul 22, 2021
EXT21Aug 30, 2021
EXTL31Feb 5, 2021
EZH21May 17, 2021
F111Dec 4, 2020
FAAH21Jul 31, 2020
FASN1Dec 4, 2020
FBLIM11May 17, 2021
FBN12May 17, 2021
FBXO111May 17, 2021
FDFT11Feb 5, 2021
FGF121Jul 22, 2021
FGFR31Sep 3, 2020
FIG41Oct 13, 2020
FLG1Jul 22, 2021
FLNA4Aug 30, 2021
FLNB1May 17, 2021
FMN21Oct 13, 2020
FOXP13May 17, 2021
FOXP23Jul 22, 2021
FOXRED11May 17, 2021
FREM11Dec 4, 2020
FRRS1L2Feb 5, 2021
FTO1Jul 22, 2021
FZD21May 17, 2021
GABBR21Oct 13, 2020
GABRA11Sep 3, 2020
GABRA51Oct 13, 2020
GABRB11Dec 4, 2020
GABRB21Oct 13, 2020
GABRB31Jul 31, 2020
GABRD1Dec 4, 2020
GABRG21May 17, 2021
GAL1Oct 13, 2020
GAMT1Sep 3, 2020
GATA61May 17, 2021
GATM1May 17, 2021
GCH11Oct 13, 2020
GFAP1Oct 13, 2020
GJB22Jul 22, 2021
GLDC2May 17, 2021
GLI25Jul 22, 2021
GLI31Oct 13, 2020
GLRA11Sep 3, 2020
GLS1May 17, 2021
GMPPA1Sep 3, 2020
GNAO11Feb 5, 2021
GNAS1May 17, 2021
GNB11May 17, 2021
GNE1Jul 31, 2020
GPAA11May 17, 2021
GPHN1Oct 13, 2020
GRIA11Oct 13, 2020
GRIA21May 17, 2021
GRIA41Aug 30, 2021
GRIK21Jul 31, 2020
GRIN2A7Aug 30, 2021
GRIN2B2Oct 13, 2020
GRIN2D5Jul 22, 2021
GRIP11Sep 3, 2020
GRM71Sep 3, 2020
GRN1Feb 5, 2021
GTPBP32Oct 13, 2020
HBA-LCR2Aug 30, 2021
HBB1Jul 31, 2020
HCFC12Feb 5, 2021
HCN12Jul 22, 2021
HCN22Jul 22, 2021
HECW22Jul 22, 2021
HERC14Jul 22, 2021
HEXB1Oct 13, 2020
HGSNAT2Feb 5, 2021
HIVEP23Aug 30, 2021
HK12Aug 30, 2021
HNRNPR1May 17, 2021
HNRNPU2Jul 22, 2021
HNRNPU-AS11Jul 22, 2021
HNRNPUL2-BSCL21Jul 31, 2020
HS6ST23Aug 30, 2021
HSD17B101Feb 5, 2021
HSD17B41Aug 30, 2021
HUWE14Jul 22, 2021
HYDIN2Jul 22, 2021
IAH11May 17, 2021
IARS11Sep 3, 2020
ICE22Jul 31, 2020
IER3IP11Aug 30, 2021
IFIH11Feb 5, 2021
IGF1R1Dec 4, 2020
IGLL11Jul 22, 2021
IKZF11Feb 5, 2021
IL12RB12Aug 30, 2021
IL17RA1Aug 30, 2021
IL1RAPL11Jul 22, 2021
IL6ST1Jul 22, 2021
INO801Jul 22, 2021
INTS13Aug 30, 2021
IQSEC11Oct 13, 2020
IQSEC22Jul 22, 2021
IRAK1BP11Sep 3, 2020
IRF2BPL7Aug 30, 2021
ITIH61Oct 13, 2020
ITPA1Sep 3, 2020
ITPR14Aug 30, 2021
IVD1Feb 5, 2021
JMJD1C1May 17, 2021
KANSL11Jul 31, 2020
KAT6A2Jul 22, 2021
KAT6B3Jul 22, 2021
KATNAL23May 17, 2021
KATNIP1May 17, 2021
KCNA21Jul 31, 2020
KCNAB21Feb 5, 2021
KCNB13Jul 22, 2021
KCNH11Aug 30, 2021
KCNH22Dec 4, 2020
KCNH53May 17, 2021
KCNJ11Sep 3, 2020
KCNJ103May 17, 2021
KCNMA16Aug 30, 2021
KCNN31May 17, 2021
KCNQ11Dec 4, 2020
KCNQ1OT11Dec 4, 2020
KCNQ23Jul 22, 2021
KCNQ34Aug 30, 2021
KCNQ52Jul 31, 2020
KCNT17Aug 30, 2021
KCNT22Aug 30, 2021
KCTD71Aug 30, 2021
KDM3B2Jul 22, 2021
KDM5B2Dec 4, 2020
KDM5C5Aug 30, 2021
KDM6A1Feb 5, 2021
KDM6B4May 17, 2021
KIAA05861Feb 5, 2021
KIDINS2201Dec 4, 2020
KIF112Aug 30, 2021
KIF16B4Aug 30, 2021
KIF1A4Jul 22, 2021
KIF26B1Dec 4, 2020
KIF2A1Jul 31, 2020
KLF9-DT1Jul 22, 2021
KMT2A7Aug 30, 2021
KMT2B2Aug 30, 2021
KMT2C11Aug 30, 2021
KMT2D14Aug 30, 2021
KMT2E4Jul 22, 2021
KMT5B1May 17, 2021
KPTN1Oct 13, 2020
KRAS1May 17, 2021
KRIT12Oct 13, 2020
KRTAP1-31Aug 30, 2021
LAMA24Feb 5, 2021
LAMA41Jul 31, 2020
LAMC11Sep 3, 2020
LAMC33Jul 22, 2021
LDLR1Sep 3, 2020
LHX41Aug 30, 2021
LHX4-AS11Aug 30, 2021
LINS13May 17, 2021
LOC1001330771Feb 5, 2021
LOC1014482021Oct 13, 2020
LOC1019285252Jul 22, 2021
LOC1027240583Dec 4, 2020
LOC1060990621Jul 31, 2020
LOC1067808001Oct 13, 2020
LOC1071335101Jul 31, 2020
LOC1101212691Aug 30, 2021
LOC1148034701Sep 3, 2020
LOC1153081611Jul 31, 2020
LONP11Dec 4, 2020
LRBA2Aug 30, 2021
LRP27Jul 22, 2021
LRPPRC3Feb 5, 2021
LYST3Sep 3, 2020
LZTR12Aug 30, 2021
MACF15May 17, 2021
MAF2Jul 22, 2021
MAGEL27Jul 22, 2021
MAGT11Feb 5, 2021
MAK161May 17, 2021
MAN1B15Feb 5, 2021
MAOA2Dec 4, 2020
MAP1B3Oct 13, 2020
MAPK8IP32May 17, 2021
MBD51Jul 31, 2020
MBOAT71Jul 22, 2021
MCM41Jul 22, 2021
MCPH11Jul 31, 2020
MDGA21Jul 31, 2020
MDH21May 17, 2021
MECP21Sep 3, 2020
MED133Feb 5, 2021
MED13L4Jul 22, 2021
MED231Dec 4, 2020
MEF2C1Oct 13, 2020
MEF2D1Jul 22, 2021
MEFV1May 17, 2021
METTL231Jul 22, 2021
MFF1Feb 5, 2021
MFSD81Sep 3, 2020
MID12Dec 4, 2020
MLYCD2Jul 22, 2021
MRPL361Oct 13, 2020
MRPS23Jul 22, 2021
MSL32Aug 30, 2021
MSS511May 17, 2021
MTOR4Aug 30, 2021
MTOR-AS11Aug 30, 2021
MTR1Jul 22, 2021
MTRR1May 17, 2021
MYBPC12May 17, 2021
MYH101Oct 13, 2020
MYH32Sep 3, 2020
MYH61Dec 4, 2020
MYH72Dec 4, 2020
MYO7A1Jul 31, 2020
MYO9A1Aug 30, 2021
MYRF2Dec 4, 2020
MYT1L3Aug 30, 2021
NAA101Oct 13, 2020
NAA152Feb 5, 2021
NACC11Sep 3, 2020
NAGLU4Aug 30, 2021
NALCN4May 17, 2021
NBEA12Aug 30, 2021
NBEAL11Jul 31, 2020
NCOR12Aug 30, 2021
NDST11Sep 3, 2020
NDUFA61May 17, 2021
NDUFA91Feb 5, 2021
NDUFAF11Aug 30, 2021
NDUFS61Oct 13, 2020
NDUFS71Oct 13, 2020
NDUFV11Feb 5, 2021
NEBL1Jul 31, 2020
NECAP11Jul 31, 2020
NEDD4L2Jul 22, 2021
NEXMIF2Feb 5, 2021
NF12Aug 30, 2021
NFASC2Feb 5, 2021
NHLRC11Jul 31, 2020
NID12Oct 13, 2020
NIPBL3Jul 22, 2021
NKX2-51Oct 13, 2020
NLGN11Sep 3, 2020
NLGN31May 17, 2021
NOD21May 17, 2021
NOMO31Jul 31, 2020
NONO1Feb 5, 2021
NOTCH12Oct 13, 2020
NOTCH32May 17, 2021
NPC12Feb 5, 2021
NPRL32Aug 30, 2021
NR2C2AP1Aug 30, 2021
NR3C21May 17, 2021
NRAP1Jul 31, 2020
NRXN12May 17, 2021
NRXN22Aug 30, 2021
NRXN32May 17, 2021
NSD16Aug 30, 2021
NSD21May 17, 2021
NSDHL1Sep 3, 2020
NSUN21Sep 3, 2020
NT5C3A1Jul 22, 2021
NTRK21Oct 13, 2020
NUP1332Feb 5, 2021
NUP1551Jul 31, 2020
NUS11Sep 3, 2020
OCRL2Feb 5, 2021
ODAD41Jul 22, 2021
OTOG2Jul 31, 2020
OTUD7A1Aug 30, 2021
OXR11Feb 5, 2021
PACS12Jul 22, 2021
PACS25Aug 30, 2021
PAH4Jul 22, 2021
PAK12Jul 22, 2021
PAX11Aug 30, 2021
PAX22Jul 22, 2021
PCDH121Feb 5, 2021
PCDH191May 17, 2021
PCDHB41Aug 30, 2021
PCDHB@1Aug 30, 2021
PDE10A1Aug 30, 2021
PDE4D1Oct 13, 2020
PDHA11Dec 4, 2020
PDHX1May 17, 2021
PDIA21Oct 13, 2020
PEPD1Sep 3, 2020
PER21Jul 31, 2020
PEX121Jul 31, 2020
PHACTR14Jul 22, 2021
PHF21A1May 17, 2021
PHIP1Sep 3, 2020
PHLPP11Oct 13, 2020
PIEZO22Jul 22, 2021
PIGA1Feb 5, 2021
PIGB1May 17, 2021
PIGBOS11May 17, 2021
PIGC1Feb 5, 2021
PIGN1Oct 13, 2020
PIGO2May 17, 2021
PIGQ1Jul 22, 2021
PIK3CA1Feb 5, 2021
PKP21Aug 30, 2021
PLCB13Feb 5, 2021
PLCG22Feb 5, 2021
PLCH21Feb 5, 2021
PLPBP1Aug 30, 2021
PLXNA14Feb 5, 2021
PLXND11Sep 3, 2020
PNKD2Jul 22, 2021
PNKP4Aug 30, 2021
PNPO1Jul 31, 2020
POGZ1May 17, 2021
POLE3Aug 30, 2021
POLG4Oct 13, 2020
POLR2A1Oct 13, 2020
POLR2F1May 17, 2021
POMC2Oct 13, 2020
PPP1R351Jul 22, 2021
PPP1R35-AS11Jul 22, 2021
PPP2R1A1Dec 4, 2020
PPP3CA1Jul 22, 2021
PPT12May 17, 2021
PRDM161Dec 4, 2020
PRDM61Dec 4, 2020
PRDM81Jul 31, 2020
PRICKLE12Aug 30, 2021
PROKR22Dec 4, 2020
PRPF191Aug 30, 2021
PRR124Aug 30, 2021
PRRT21Jul 22, 2021
PRSS121Sep 3, 2020
PSMD122Aug 30, 2021
PSORS1C11Jul 22, 2021
PSPH1Sep 3, 2020
PTCH12Aug 30, 2021
PTPN111Oct 13, 2020
PTPN231May 17, 2021
PTPN41Sep 3, 2020
PTPRD1Dec 4, 2020
PTS1Oct 13, 2020
PUM12Jul 31, 2020
QARS13Aug 30, 2021
RAB3GAP21Dec 4, 2020
RAF11May 17, 2021
RAI15May 17, 2021
RANBP21Aug 30, 2021
RAPGEF21Feb 5, 2021
RARS22Jul 22, 2021
RASA11Dec 4, 2020
RASA22Dec 4, 2020
RBMX1Jul 22, 2021
RC3H11Jul 22, 2021
RELN10Jul 22, 2021
RERE7Aug 30, 2021
RET1Aug 30, 2021
RFXANK1Aug 30, 2021
RHOBTB23May 17, 2021
RIT11Aug 30, 2021
RNASEH2B1Feb 5, 2021
RNASET21May 17, 2021
RNF1251Jul 22, 2021
RNF132Aug 30, 2021
RNU4ATAC2Oct 13, 2020
ROGDI2Oct 13, 2020
RORA4Aug 30, 2021
RORA-AS13Aug 30, 2021
RORB1Jul 31, 2020
RPGRIP1L1Aug 30, 2021
RPL10L1May 17, 2021
RRP82Oct 13, 2020
RTN4IP13May 17, 2021
RTTN1Feb 5, 2021
RYR21Dec 4, 2020
RYR310Aug 30, 2021
SALL11Jul 22, 2021
SAMD9L1Aug 30, 2021
SASS61Jul 31, 2020
SCAPER1Jul 22, 2021
SCARB21Jul 31, 2020
SCN10A1Dec 4, 2020
SCN1A5Jul 22, 2021
SCN1A-AS12Aug 30, 2021
SCN1B1Aug 30, 2021
SCN2A3Aug 30, 2021
SCN3A4Feb 5, 2021
SCN5A3Aug 30, 2021
SCN8A8Aug 30, 2021
SCN9A5Aug 30, 2021
SCNN1B1May 17, 2021
SCNN1G1Jul 22, 2021
SCO21Jul 31, 2020
SDHAF11Feb 5, 2021
SDHB1Feb 5, 2021
SDHC1May 17, 2021
SDK22Feb 5, 2021
SEMA6B1Sep 3, 2020
SEPTIN92May 17, 2021
SERAC11Oct 13, 2020
SERPINI11Aug 30, 2021
SETBP14Jul 22, 2021
SETD1A4Jul 22, 2021
SETD1B4Aug 30, 2021
SETD27Jul 22, 2021
SETD56Jul 22, 2021
SHANK22Aug 30, 2021
SHANK32Aug 30, 2021
SHROOM41Feb 5, 2021
SI1May 17, 2021
SIK13Feb 5, 2021
SIN3A4Aug 30, 2021
SKI1Dec 4, 2020
SLC12A51Aug 30, 2021
SLC13A51Feb 5, 2021
SLC17A52Aug 30, 2021
SLC18A21May 17, 2021
SLC19A11Oct 13, 2020
SLC19A31Jul 31, 2020
SLC1A31Jul 31, 2020
SLC25A122Feb 5, 2021
SLC25A191Jul 22, 2021
SLC26A5-AS12Dec 4, 2020
SLC2A12Aug 30, 2021
SLC45A11Oct 13, 2020
SLC6A14Aug 30, 2021
SLC6A1-AS11Aug 30, 2021
SLC6A191Feb 5, 2021
SLC6A201Oct 13, 2020
SLC9A31Aug 30, 2021
SLC9A61Jul 22, 2021
SLC9A91Feb 5, 2021
SMAD61Oct 13, 2020
SMARCA11Jul 22, 2021
SMARCA21May 17, 2021
SMARCA42Jul 22, 2021
SMARCB11Aug 30, 2021
SMARCC23Aug 30, 2021
SMPD11May 17, 2021
SNAP291Feb 5, 2021
SOBP1Feb 5, 2021
SON3May 17, 2021
SOS11Dec 4, 2020
SOS22Jul 22, 2021
SOX101May 17, 2021
SOX112Jul 22, 2021
SOX41Feb 5, 2021
SOX52Sep 3, 2020
SPAST1May 17, 2021
SPATA53Jul 22, 2021
SPECC1L1Feb 5, 2021
SPECC1L-ADORA2A1Feb 5, 2021
SPINK51Aug 30, 2021
SPTA11Jul 22, 2021
SPTAN11Jul 31, 2020
SRCAP3Aug 30, 2021
SRPK21May 17, 2021
ST3GAL33Aug 30, 2021
ST3GAL3-AS11May 17, 2021
ST3GAL51Jul 31, 2020
STAG12May 17, 2021
STARD91Jul 22, 2021
STAT12Aug 30, 2021
STAT5B3Jul 22, 2021
STIM14Feb 5, 2021
STXBP11May 17, 2021
STYXL11Oct 13, 2020
SUPT16H1Feb 5, 2021
SURF11Feb 5, 2021
SUZ121Jul 31, 2020
SYNCRIP2Feb 5, 2021
SYNE11Oct 13, 2020
SYNGAP15Aug 30, 2021
SZT213Aug 30, 2021
SZT2-AS11Feb 5, 2021
TANC22Jul 22, 2021
TAOK12Aug 30, 2021
TBC1D242Aug 30, 2021
TBC1D7-LOC1001303571Feb 5, 2021
TBCK1Oct 13, 2020
TBL1XR13Feb 5, 2021
TBX12Aug 30, 2021
TBXAS12Jul 22, 2021
TCF121Jul 22, 2021
TCF204Aug 30, 2021
TCF43Jul 22, 2021
TCF7L21Jul 31, 2020
TET33May 17, 2021
TFE31May 17, 2021
TGIF11Dec 4, 2020
THOC21Feb 5, 2021
THRB1Jul 22, 2021
TLK21Sep 3, 2020
TMEM1272May 17, 2021
TMEM671May 17, 2021
TNFRSF13B1Jul 22, 2021
TNFSF121May 17, 2021
TNFSF12-TNFSF131May 17, 2021
TNNC11Dec 4, 2020
TNNT21Oct 13, 2020
TPM12Aug 30, 2021
TPP13Feb 5, 2021
TRAF71Oct 13, 2020
TRAPPC111Oct 13, 2020
TRAPPC94Oct 13, 2020
TREX12Feb 5, 2021
TRIM81Jul 31, 2020
TRIO8Aug 30, 2021
TRIP122Feb 5, 2021
TRPM32Jul 22, 2021
TRPM61May 17, 2021
TRRAP3Jul 22, 2021
TSC22Aug 30, 2021
TSHR1Jul 31, 2020
TSHZ11May 17, 2021
TTC371Feb 5, 2021
TTI21May 17, 2021
TTN16Aug 30, 2021
TTN-AS19Aug 30, 2021
TTR1Oct 13, 2020
TUBG11Jul 31, 2020
TXNRD21Jul 31, 2020
TYK21Jul 22, 2021
TYMP1Jul 31, 2020
UBR41Aug 30, 2021
UNC13A2Jul 31, 2020
UNC13D1Jul 22, 2021
UPB11Jul 31, 2020
USH2A1Feb 5, 2021
USP9X1Sep 3, 2020
VARS12Jul 22, 2021
VIP1May 17, 2021
VPS13B1May 17, 2021
VPS4A1Aug 30, 2021
VRK21Sep 3, 2020
VWA3B2Aug 30, 2021
WASHC43May 17, 2021
WDFY36Aug 30, 2021
WDFY3-AS11Jul 31, 2020
WDR263Feb 5, 2021
WDR371Sep 3, 2020
WDR41May 17, 2021
WDR451Feb 5, 2021
WDR45B1May 17, 2021
WDR623Oct 13, 2020
WDR811Jul 31, 2020
WFS12Feb 5, 2021
WWOX3Jul 22, 2021
XPR11Sep 3, 2020
YY11Feb 5, 2021
YY1AP11May 17, 2021
ZBTB181Oct 13, 2020
ZIC11Aug 30, 2021
ZIC31May 17, 2021
ZMIZ15Dec 4, 2020
ZNF1421Oct 13, 2020
ZNF2922Jul 22, 2021
ZNF4073Jul 22, 2021
ZNF4622Dec 4, 2020
ZNF4691Dec 4, 2020
ZNF7111May 17, 2021
ZSWIM62Aug 30, 2021

Condition

NameSubmissionsLast Updated
22q13.3 deletion syndrome2Aug 30, 2021
ALG1-CDG2Jul 22, 2021
ALG9 congenital disorder of glycosylation1Jul 22, 2021
Abnormal facial shape1Oct 13, 2020
Abnormality of skin pigmentation2Oct 13, 2020
Adrenal hyperplasia1Oct 13, 2020
Agammaglobulinemia 2, autosomal recessive1Jul 22, 2021
Aicardi Goutieres syndrome 11Feb 5, 2021
Aicardi Goutieres syndrome 21Feb 5, 2021
Aicardi-Goutieres syndrome 61Feb 5, 2021
Aicardi-Goutieres syndrome 71Feb 5, 2021
Amyotrophy, hereditary neuralgic1May 17, 2021
Anemia1Jul 31, 2020
Aortic root dilatation1Oct 13, 2020
Arboleda-Tham syndrome1Jul 22, 2021
Arginine:glycine amidinotransferase deficiency1May 17, 2021
Arrhythmia1Dec 4, 2020
Arrhythmogenic right ventricular dysplasia 91Aug 30, 2021
Arthrogryposis, distal, with impaired proprioception and touch1Jul 22, 2021
Ataxia-oculomotor apraxia 41Aug 30, 2021
Ataxia-pancytopenia syndrome1Aug 30, 2021
Atrial fibrillation2Jul 31, 2020
Attention deficit hyperactivity disorder1Jul 31, 2020
Aural atresia, congenital1May 17, 2021
Autism 161Feb 5, 2021
Autism 172Aug 30, 2021
Autism, susceptibility to, 181Feb 5, 2021
Autism, susceptibility to, X-linked 11May 17, 2021
Autistic behavior12Dec 4, 2020
Autistic disorder of childhood onset34Dec 4, 2020
Autoimmune lymphoproliferative syndrome type 2B2Jul 22, 2021
Autoimmune lymphoproliferative syndrome type V1Feb 5, 2021
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated1Feb 5, 2021
Autosomal dominant omodysplasia1May 17, 2021
Autosomal recessive pseudohypoaldosteronism type 11May 17, 2021
Ayme-gripp syndrome1Jul 22, 2021
Bainbridge-Ropers syndrome1Jul 22, 2021
Bare lymphocyte syndrome 23Aug 30, 2021
Basilicata-Akhtar syndrome1Aug 30, 2021
Beck-Fahrner syndrome1May 17, 2021
Beckwith-Wiedemann syndrome1May 17, 2021
Benign familial neonatal seizures 21Feb 5, 2021
Bicuspid aortic valve3Oct 13, 2020
Bifunctional peroxisomal enzyme deficiency1Aug 30, 2021
Bilateral sensorineural hearing impairment2Oct 13, 2020
Blau syndrome1May 17, 2021
Breast-ovarian cancer, familial 21Jul 31, 2020
Bronchiectasis with or without elevated sweat chloride 31Jul 22, 2021
Brugada syndrome11Dec 4, 2020
CEDNIK syndrome1Feb 5, 2021
CHARGE association2Jul 22, 2021
Café-au-lait macules with pulmonary stenosis1Aug 30, 2021
Cardiac valvular dysplasia, X-linked1Feb 5, 2021
Cardiofaciocutaneous syndrome 21May 17, 2021
Cardiomyopathy, left ventricular noncompaction3Dec 4, 2020
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 42Jul 22, 2021
Cerebellar atrophy with seizures and variable developmental delay2Jul 22, 2021
Cerebellar atrophy, developmental delay, and seizures2Feb 5, 2021
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11May 17, 2021
Cerebral hemorrhage2Dec 4, 2020
Ceroid lipofuscinosis neuronal 21Feb 5, 2021
Ceroid lipofuscinosis, neuronal, 111Feb 5, 2021
Chilblain lupus 11Feb 5, 2021
Chops syndrome1Aug 30, 2021
Christianson syndrome1Jul 22, 2021
Chromosome 15q11-q13 duplication syndrome1May 17, 2021
Ciliary dyskinesia, primary, 32Aug 30, 2021
Ciliary dyskinesia, primary, 351Jul 22, 2021
Ciliary dyskinesia, primary, 52Jul 22, 2021
Ciliary dyskinesia, primary, 71Jul 22, 2021
Clark-Baraitser syndrome1Feb 5, 2021
Coffin-Siris syndrome 16Aug 30, 2021
Coffin-Siris syndrome 101Feb 5, 2021
Coffin-Siris syndrome 71Aug 30, 2021
Coffin-Siris syndrome 83Aug 30, 2021
Cognitive impairment with or without cerebellar ataxia1Feb 5, 2021
Cohen syndrome1May 17, 2021
Combined immunodeficiency due to STIM1 deficiency4Feb 5, 2021
Combined oxidative phosphorylation deficiency 362Jul 22, 2021
Common variable immunodeficiency 21Jul 22, 2021
Common variable immunodeficiency 8, with autoimmunity2Aug 30, 2021
Complement component 6 deficiency1Feb 5, 2021
Congenital cerebellar hypoplasia1Feb 5, 2021
Congenital disorder of glycosylation type 2H1May 17, 2021
Congenital disorder of glycosylation, type ICC1Feb 5, 2021
Congenital disorder of glycosylation, type IIq1Feb 5, 2021
Congenital hydrocephalus 11Jul 22, 2021
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1Feb 5, 2021
Congenital myotonia, autosomal recessive form1Aug 30, 2021
Cornelia de Lange syndrome 11Jul 22, 2021
Cortical dysplasia, complex, with other brain malformations 101Jul 22, 2021
Cortical malformations, occipital2Jul 22, 2021
Cowden syndrome 51Feb 5, 2021
Craniosynostosis 31Jul 22, 2021
Culler-Jones syndrome1Jul 22, 2021
Cutis laxa with osteodystrophy1May 17, 2021
Dandy-Walker syndrome2Dec 4, 2020
Deafness, autosomal dominant 371Jul 22, 2021
Deafness, autosomal dominant 401Feb 5, 2021
Deafness, autosomal recessive 1A2Jul 22, 2021
Deficiency of 2-methylbutyryl-CoA dehydrogenase1Jul 22, 2021
Deficiency of malonyl-CoA decarboxylase2Jul 22, 2021
Delayed speech and language development1Jul 31, 2020
Desmosterolosis1Jul 22, 2021
Developmental and epileptic encephalopathy 911Jul 22, 2021
Developmental and epileptic encephalopathy 941May 17, 2021
Developmental and epileptic encephalopathy, 571Aug 30, 2021
Developmental and epileptic encephalopathy, 642May 17, 2021
Developmental and epileptic encephalopathy, 663Aug 30, 2021
Developmental and epileptic encephalopathy, 672May 17, 2021
Developmental and epileptic encephalopathy, 697Aug 30, 2021
Developmental and epileptic encephalopathy, 703Jul 22, 2021
Developmental and epileptic encephalopathy, 732Aug 30, 2021
Developmental and epileptic encephalopathy, 761May 17, 2021
Developmental and epileptic encephalopathy, 771Jul 22, 2021
Developmental and epileptic encephalopathy, 801May 17, 2021
Developmental delay and seizures with or without movement abnormalities1May 17, 2021
Developmental delay with or without dysmorphic facies and autism2Jul 22, 2021
Developmental delay with variable intellectual impairment and behavioral abnormalities3Aug 30, 2021
Developmental regression1Dec 4, 2020
Diarrhea 8, secretory sodium, congenital1Aug 30, 2021
Diencephalic-mesencephalic junction dysplasia syndrome 11Feb 5, 2021
Diets-Jongmans syndrome1Jul 22, 2021
Dihydropyrimidine dehydrogenase deficiency1May 17, 2021
Dilated cardiomyopathy 1G1Aug 30, 2021
Dilated cardiomyopathy 1Y1Aug 30, 2021
Dilated cardiomyopathy 3B1Aug 30, 2021
Donnai-Barrow syndrome3Jul 22, 2021
Dyggve-Melchior-Clausen syndrome1Aug 30, 2021
Dyskinesia, limb and orofacial, infantile-onset1Aug 30, 2021
Dyskinesia, seizures, and intellectual developmental disorder1Aug 30, 2021
Dystonia 28, childhood-onset2Aug 30, 2021
EAST syndrome2May 17, 2021
Early infantile epileptic encephalopathy 112Aug 30, 2021
Early infantile epileptic encephalopathy 121Feb 5, 2021
Early infantile epileptic encephalopathy 131Jul 22, 2021
Early infantile epileptic encephalopathy 145Aug 30, 2021
Early infantile epileptic encephalopathy 152Aug 30, 2021
Early infantile epileptic encephalopathy 161Aug 30, 2021
Early infantile epileptic encephalopathy 187Aug 30, 2021
Early infantile epileptic encephalopathy 21Jul 22, 2021
Early infantile epileptic encephalopathy 341Aug 30, 2021
Early infantile epileptic encephalopathy 41May 17, 2021
Early infantile epileptic encephalopathy 621Feb 5, 2021
Early infantile epileptic encephalopathy 73Jul 22, 2021
Early infantile epileptic encephalopathy 81Jul 22, 2021
Early infantile epileptic encephalopathy 91May 17, 2021
Elliptocytosis 21Jul 22, 2021
Encephalopathy1Oct 13, 2020
Encephalopathy due to defective mitochondrial and peroxisomal fission 21Feb 5, 2021
Encephalopathy, acute, infection-induced, 3, suceptibility to1Aug 30, 2021
Encephalopathy, familial, with neuroserpin inclusion bodies1Aug 30, 2021
Epilepsy, childhood absence 21May 17, 2021
Epilepsy, childhood absence 66Jul 22, 2021
Epilepsy, early-onset, vitamin b6-dependent1Aug 30, 2021
Epilepsy, early-onset, with or without developmental delay1Jul 22, 2021
Epilepsy, familial adult myoclonic, 51May 17, 2021
Epilepsy, familial adult myoclonic, 71Feb 5, 2021
Epilepsy, familial focal, with variable foci 13Jul 22, 2021
Epilepsy, familial focal, with variable foci 31Aug 30, 2021
Epilepsy, familial focal, with variable foci 41Feb 5, 2021
Epilepsy, familial temporal lobe, 73Jul 22, 2021
Epilepsy, focal, with speech disorder and with or without mental retardation4Aug 30, 2021
Epilepsy, hearing loss, and mental retardation syndrome2Jul 22, 2021
Epilepsy, idiopathic generalized 91Jul 22, 2021
Epilepsy, idiopathic generalized, susceptibility to, 161Aug 30, 2021
Epilepsy, juvenile absence, susceptibility to, 11Aug 30, 2021
Epilepsy, nocturnal frontal lobe, 51Aug 30, 2021
Epilepsy, nocturnal frontal lobe, type 12Aug 30, 2021
Epilepsy, nocturnal frontal lobe, type 32Feb 5, 2021
Epilepsy, nocturnal frontal lobe, type 41Aug 30, 2021
Epilepsy, progressive myoclonic 31Aug 30, 2021
Epileptic encephalopathy, early infantile, 251Feb 5, 2021
Epileptic encephalopathy, early infantile, 261Jul 22, 2021
Epileptic encephalopathy, early infantile, 283Jul 22, 2021
Epileptic encephalopathy, early infantile, 302Feb 5, 2021
Epileptic encephalopathy, early infantile, 311Aug 30, 2021
Epileptic encephalopathy, early infantile, 371Feb 5, 2021
Epileptic encephalopathy, early infantile, 421Jul 22, 2021
Epileptic encephalopathy, early infantile, 461Jul 22, 2021
Epileptic encephalopathy, early infantile, 471Jul 22, 2021
Epileptic encephalopathy, early infantile, 482Aug 30, 2021
Epileptic encephalopathy, early infantile, 502Aug 30, 2021
Epileptic encephalopathy, early infantile, 511May 17, 2021
Epileptic encephalopathy, infantile or early childhood 32Aug 30, 2021
Facial dysmorphism, immunodeficiency, livedo, and short stature1Aug 30, 2021
Familial adenomatous polyposis 11Jul 22, 2021
Familial cancer of breast1Dec 4, 2020
Familial cold autoinflammatory syndrome 31Feb 5, 2021
Familial hemophagocytic lymphohistiocytosis 31Jul 22, 2021
Familial hypertrophic cardiomyopathy 91Aug 30, 2021
Familial mediterranean fever, autosomal dominant1May 17, 2021
Familial medullary thyroid carcinoma1Aug 30, 2021
Febrile seizures, familial, 43May 17, 2021
Flexion contracture2Sep 3, 2020
Floating-Harbor syndrome2Aug 30, 2021
Focal seizures2Jul 31, 2020
Focal seizures with impairment of consciousness or awareness3Jul 31, 2020
GLUT1 deficiency syndrome 11Feb 5, 2021
GLUT1 deficiency syndrome 21Aug 30, 2021
Gabriele de Vries syndrome1Feb 5, 2021
Galactosylceramide beta-galactosidase deficiency1Jul 22, 2021
Galloway-Mowat syndrome 81Feb 5, 2021
Gastroesophageal reflux1Sep 3, 2020
Generalized epilepsy with febrile seizures plus, type 11Aug 30, 2021
Generalized epilepsy with febrile seizures plus, type 101Jul 22, 2021
Generalized epilepsy with febrile seizures plus, type 73Aug 30, 2021
Generalized hypotonia1Oct 13, 2020
Genitopatellar syndrome1Jul 22, 2021
Ghosal hematodiaphyseal dysplasia2Jul 22, 2021
Global developmental delay45Dec 4, 2020
Global developmental delay with or without impaired intellectual development2Aug 30, 2021
Glycosylphosphatidylinositol biosynthesis defect 151May 17, 2021
Glycosylphosphatidylinositol biosynthesis defect 161Feb 5, 2021
Grange syndrome1May 17, 2021
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive3Jul 22, 2021
Growth retardation, developmental delay, coarse facies, and early death1Jul 22, 2021
HSD10 disease1Feb 5, 2021
Harel-Yoon syndrome2Aug 30, 2021
Hearing impairment3Oct 13, 2020
Heart, malformation of3Dec 4, 2020
Hemangioma1Oct 13, 2020
Holoprosencephaly 72Aug 30, 2021
Holoprosencephaly 92Jul 22, 2021
Holoprosencephaly sequence1Oct 13, 2020
Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type1May 17, 2021
Hyper-ige recurrent infection syndrome 4, autosomal recessive1Jul 22, 2021
Hypercholesterolemia1Sep 3, 2020
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive1May 17, 2021
Hyperlysinemia1May 17, 2021
Hyperphosphatasia with mental retardation syndrome 21May 17, 2021
Hypogonadotropic hypogonadism 5 with or without anosmia1Feb 5, 2021
Hypomagnesemia 1, intestinal1May 17, 2021
Hypomyelination, global cerebral1Feb 5, 2021
Hypothyroidism1Jul 31, 2020
Hypotonia, ataxia, and delayed development syndrome1Jul 22, 2021
Hypotonia, infantile, with psychomotor retardation and characteristic facies 13May 17, 2021
Ichthyosis vulgaris1Jul 22, 2021
Immunodeficiency 171Jul 22, 2021
Immunodeficiency 302Aug 30, 2021
Immunodeficiency 31a1Aug 30, 2021
Immunodeficiency 351Jul 22, 2021
Immunodeficiency 511Aug 30, 2021
Immunodeficiency, common variable, 131Feb 5, 2021
Immunoskeletal dysplasia with neurodevelopmental abnormalities1Feb 5, 2021
Inflammatory skin and bowel disease, neonatal 11May 17, 2021
Intellectual developmental disorder 591Aug 30, 2021
Intellectual developmental disorder 611Feb 5, 2021
Intellectual developmental disorder 621Feb 5, 2021
Intellectual developmental disorder and retinitis pigmentosa; IDDRP1Jul 22, 2021
Intellectual developmental disorder with autistic features and language delay, with or without seizures1Jul 22, 2021
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures1May 17, 2021
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1May 17, 2021
Intellectual developmental disorder with dysmorphic facies and ptosis1May 17, 2021
Intellectual developmental disorder with hypertelorism and distinctive facies1Feb 5, 2021
Intellectual developmental disorder with macrocephaly, seizures, and speech delay1Jul 22, 2021
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia2Aug 30, 2021
Intellectual developmental disorder with seizures and language delay2Aug 30, 2021
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies1Jul 22, 2021
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly3Aug 30, 2021
Intellectual developmental disorder, autosomal recessive 671Feb 5, 2021
Intellectual developmental disorder, autosomal recessive 711May 17, 2021
Intellectual disability250Dec 4, 2020
Intellectual disability, X-linked 211Jul 22, 2021
Intellectual disability, X-linked syndromic, Turner type2Jul 22, 2021
Intellectual disability, X-linked, syndromic, Houge type3Aug 30, 2021
Intellectual disability, autosomal dominant 455Jul 22, 2021
Intellectual disability, autosomal dominant 472May 17, 2021
Intellectual disability, autosomal dominant 501Feb 5, 2021
Intellectual disability, autosomal dominant 511May 17, 2021
Intellectual disability, autosomal dominant 523Aug 30, 2021
Intellectual disability, autosomal dominant 541May 17, 2021
Intellectual disability, autosomal dominant 561Aug 30, 2021
Intellectual disability, autosomal dominant 92Jul 22, 2021
Intellectual disability, mild2Jul 31, 2020
Isovaleryl-CoA dehydrogenase deficiency1Feb 5, 2021
Joint laxity2Dec 4, 2020
Joubert syndrome 231Feb 5, 2021
Joubert syndrome 261May 17, 2021
Joubert syndrome 271Feb 5, 2021
Joubert syndrome 31Aug 30, 2021
Joubert syndrome 61May 17, 2021
Joubert syndrome 71Aug 30, 2021
Joubert syndrome with hepatic defect1Aug 30, 2021
KBG syndrome4Aug 30, 2021
Kabuki syndrome 111Aug 30, 2021
Kabuki syndrome 21Feb 5, 2021
Keratosis follicularis2May 17, 2021
Kleefstra syndrome 11Jul 22, 2021
Kleefstra syndrome 26Aug 30, 2021
Knobloch syndrome 11May 17, 2021
Leigh syndrome1Feb 5, 2021
Lethal congenital contracture syndrome 41May 17, 2021
Leukoencephalopathy, cystic, without megalencephaly1May 17, 2021
Lissencephaly 9 with complex brainstem malformation2May 17, 2021
Long QT syndrome 81Aug 30, 2021
Lowe syndrome1Feb 5, 2021
Luscan-lumish syndrome4Jul 22, 2021
Macrocephaly, dysmorphic facies, and psychomotor retardation3Jul 22, 2021
Mandibulofacial dysostosis-microcephaly syndrome1May 17, 2021
Marshall syndrome1Jul 22, 2021
Mental retardation 3, X-linked2Feb 5, 2021
Mental retardation 49, X-linked1Feb 5, 2021
Mental retardation 63, X-linked1Aug 30, 2021
Mental retardation and distinctive facial features with or without cardiac defects4Jul 22, 2021
Mental retardation with language impairment and with or without autistic features2May 17, 2021
Mental retardation, X-linked 11Jul 22, 2021
Mental retardation, X-linked 121Feb 5, 2021
Mental retardation, X-linked 981Feb 5, 2021
Mental retardation, X-linked, syndromic 341Feb 5, 2021
Mental retardation, anterior maxillary protrusion, and strabismus1Feb 5, 2021
Mental retardation, autosomal dominant 136Aug 30, 2021
Mental retardation, autosomal dominant 146Aug 30, 2021
Mental retardation, autosomal dominant 151Aug 30, 2021
Mental retardation, autosomal dominant 162Jul 22, 2021
Mental retardation, autosomal dominant 191Jul 22, 2021
Mental retardation, autosomal dominant 21Feb 5, 2021
Mental retardation, autosomal dominant 233Jul 22, 2021
Mental retardation, autosomal dominant 264Aug 30, 2021
Mental retardation, autosomal dominant 272Jul 22, 2021
Mental retardation, autosomal dominant 292Aug 30, 2021
Mental retardation, autosomal dominant 32Aug 30, 2021
Mental retardation, autosomal dominant 331Aug 30, 2021
Mental retardation, autosomal dominant 341Feb 5, 2021
Mental retardation, autosomal dominant 392Aug 30, 2021
Mental retardation, autosomal dominant 411Feb 5, 2021
Mental retardation, autosomal dominant 421May 17, 2021
Mental retardation, autosomal dominant 432Aug 30, 2021
Mental retardation, autosomal dominant 441Feb 5, 2021
Mental retardation, autosomal dominant 54Aug 30, 2021
Mental retardation, autosomal recessive 152Feb 5, 2021
Mental retardation, autosomal recessive 271May 17, 2021
Mental retardation, autosomal recessive 31May 17, 2021
Mental retardation, autosomal recessive 374Jul 22, 2021
Mental retardation, autosomal recessive 391May 17, 2021
Mental retardation, autosomal recessive 433May 17, 2021
Mental retardation, autosomal recessive 441Jul 22, 2021
Mental retardation, autosomal recessive 571Jul 22, 2021
Mental retardation, syndromic, Claes-Jensen type, X-linked4Aug 30, 2021
Mental retardation, with or without seizures, ARX-related, X-linked1May 17, 2021
Merosin deficient congenital muscular dystrophy1Feb 5, 2021
Methylcobalamin deficiency type cblG1Jul 22, 2021
Microcephaly6Dec 4, 2020
Microcephaly 18, primary, autosomal dominant3Aug 30, 2021
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1Aug 30, 2021
Microcephaly, epilepsy, and diabetes syndrome1Aug 30, 2021
Microcephaly, growth deficiency, seizures, and brain malformations1May 17, 2021
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy2Aug 30, 2021
Microcephaly, short stature, and polymicrogyria with or without seizures1Feb 5, 2021
Mitochondrial complex 1 deficiency, nuclear type 111Aug 30, 2021
Mitochondrial complex 1 deficiency, nuclear type 191May 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 261Feb 5, 2021
Mitochondrial complex 1 deficiency, nuclear type 331May 17, 2021
Mitochondrial complex 1 deficiency, nuclear type 41Feb 5, 2021
Mitochondrial complex II deficiency, nuclear type 11Feb 5, 2021
Mitochondrial complex IV deficiency1Jul 22, 2021
Mucopolysaccharidosis, MPS-III-B3Aug 30, 2021
Mucopolysaccharidosis, MPS-III-C1Feb 5, 2021
Multiple congenital anomalies-hypotonia-seizures syndrome 21Feb 5, 2021
Muscular dystrophy, limb-girdle, autosomal recessive 231Feb 5, 2021
Myasthenic syndrome, congenital, 24, presynaptic1Aug 30, 2021
Myoclonic-atonic epilepsy4Aug 30, 2021
Myopathy, congenital, with tremor1May 17, 2021
Natural killer cell and glucocorticoid deficiency with DNA repair defect1Jul 22, 2021
Netherton syndrome1Aug 30, 2021
Neurodegeneration with brain iron accumulation 51Feb 5, 2021
Neurodegeneration with brain iron accumulation 61Feb 5, 2021
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity1May 17, 2021
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies1Aug 30, 2021
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies1Aug 30, 2021
Neurodevelopmental disorder with central and peripheral motor dysfunction2Feb 5, 2021
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures1Feb 5, 2021
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities3May 17, 2021
Neurodevelopmental disorder with hypotonia, seizures, and absent language2Jul 22, 2021
Neurodevelopmental disorder with involuntary movements1Feb 5, 2021
Neurodevelopmental disorder with language impairment and behavioral abnormalities1May 17, 2021
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy2Jul 22, 2021
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features1Aug 30, 2021
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart6Aug 30, 2021
Neurodevelopmental disorder with or without seizures and gait abnormalities1Aug 30, 2021
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA1May 17, 2021
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures3Aug 30, 2021
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements3May 17, 2021
Neurodevelopmental disorder with severe motor impairment and absent language1Aug 30, 2021
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures1May 17, 2021
Neurodevelopmental disorder with visual defects and brain anomalies1Aug 30, 2021
Neurofibromatosis, type 11Aug 30, 2021
Neuronal ceroid lipofuscinosis 11May 17, 2021
Neuronal ceroid lipofuscinosis 81Feb 5, 2021
Neutral 1 amino acid transport defect1Feb 5, 2021
Nicolaides-Baraitser syndrome1May 17, 2021
Niemann-Pick disease type C11Feb 5, 2021
Niemann-Pick disease, type A1May 17, 2021
Non-ketotic hyperglycinemia2May 17, 2021
Noonan syndrome 22Aug 30, 2021
Noonan syndrome 51May 17, 2021
Noonan syndrome 81Aug 30, 2021
Noonan syndrome 91Jul 22, 2021
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia1Jul 22, 2021
O'Donnell-Luria-Rodan syndrome3Jul 22, 2021
Obesity2Oct 13, 2020
Oculofaciocardiodental syndrome1May 17, 2021
Opitz GBBB syndrome, type II1Feb 5, 2021
Optic atrophy 10 with or without ataxia, mental retardation, and seizures1May 17, 2021
Orofaciodigital syndrome xiv1Aug 30, 2021
Otofaciocervical syndrome 21Aug 30, 2021
Paganini-Miozzo syndrome3Aug 30, 2021
Paragangliomas 31May 17, 2021
Paragangliomas 41Feb 5, 2021
Parkinsonism-dystonia, infantile, 21May 17, 2021
Paroxysmal nonkinesigenic dyskinesia 11Jul 22, 2021
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy1Feb 5, 2021
Peeling skin syndrome 11Jul 22, 2021
Periventricular nodular heterotopia 12May 17, 2021
Periventricular nodular heterotopia 72Jul 22, 2021
Pettigrew syndrome1Feb 5, 2021
Phenylketonuria3Jul 22, 2021
Pheochromocytoma1May 17, 2021
Pierpont syndrome1Feb 5, 2021
Pilarowski-Bjornsson syndrome2Aug 30, 2021
Pitt-Hopkins syndrome2Jul 22, 2021
Pitt-Hopkins-like syndrome 12Jul 22, 2021
Pitt-Hopkins-like syndrome 21May 17, 2021
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease1Aug 30, 2021
Polyarteritis nodosa, childhoood-onset1Jul 22, 2021
Polyglandular autoimmune syndrome, type 13May 17, 2021
Pontocerebellar hypoplasia type 61Jul 22, 2021
Pontocerebellar hypoplasia type 81Jul 22, 2021
Pontocerebellar hypoplasia, type 1b1Jul 22, 2021
Porencephaly 25Jul 22, 2021
Postnatal microcephaly2Dec 4, 2020
Postural tremor1Oct 13, 2020
Primary aldosteronism, seizures, and neurologic abnormalities2Jul 22, 2021
Primary autosomal recessive microcephaly 51Feb 5, 2021
Primary dilated cardiomyopathy6Dec 4, 2020
Primary pulmonary hypertension 31Aug 30, 2021
Progressive congenital scoliosis2Oct 13, 2020
Progressive myoclonus epilepsy with ataxia1Aug 30, 2021
Prolonged QT interval2Dec 4, 2020
Pulmonic stenosis2Dec 4, 2020
Pyridoxine-dependent epilepsy1Jul 22, 2021
Pyruvate dehydrogenase E3-binding protein deficiency1May 17, 2021
Recurrent infections1Oct 13, 2020
Renal coloboma syndrome1Jul 22, 2021
Rubinstein-Taybi syndrome 14May 17, 2021
Salla disease2Aug 30, 2021
Schaaf-Yang syndrome3Jul 22, 2021
Schinzel-Giedion syndrome1Jul 22, 2021
Schuurs-hoeijmakers syndrome2Jul 22, 2021
Seckel syndrome 11May 17, 2021
See cases68Aug 30, 2021
Seizures278Feb 5, 2021
Seizures, benign familial infantile, 21Jul 22, 2021
Seizures, benign familial infantile, 31Aug 30, 2021
Seizures, benign familial infantile, 52Aug 30, 2021
Seizures, cortical blindness, and microcephaly syndrome1May 17, 2021
Seizures, scoliosis, and macrocephaly syndrome1Aug 30, 2021
Severe combined immunodeficiency due to DCLRE1C deficiency1May 17, 2021
Severe myoclonic epilepsy in infancy2Jul 22, 2021
Shashi-Pena syndrome2Aug 30, 2021
Short stature7Dec 4, 2020
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1Aug 30, 2021
Shukla-Vernon syndrome1Aug 30, 2021
Sifrim-Hitz-Weiss syndrome1Feb 5, 2021
Skraban-Deardorff syndrome1Feb 5, 2021
Sleep disturbance1Jul 31, 2020
Sleep myoclonus1Sep 3, 2020
Smith-Kingsmore syndrome3Aug 30, 2021
Smith-Magenis syndrome3May 17, 2021
Snijders blok-campeau syndrome2Jul 22, 2021
Sotos syndrome 14Aug 30, 2021
Spastic paraplegia 4, autosomal dominant1May 17, 2021
Spastic paraplegia 52, autosomal recessive1May 17, 2021
Spastic tetraparesis1Oct 13, 2020
Specific learning disability1Sep 3, 2020
Speech-language disorder 11Jul 22, 2021
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1Aug 30, 2021
Spinocerebellar ataxia type 292Aug 30, 2021
Spinocerebellar ataxia, autosomal recessive 172Feb 5, 2021
Spinocerebellar ataxia, autosomal recessive 222Aug 30, 2021
Spontaneous, recurrent epistaxis1Dec 4, 2020
Squalene synthase deficiency1Feb 5, 2021
Stankiewicz-Isidor syndrome1Aug 30, 2021
Stickler syndrome type 21Jul 22, 2021
Stocco dos Santos syndrome1Feb 5, 2021
Striatal necrosis, bilateral, and progressive polyneuropathy1Jul 22, 2021
Structural brain anomalies with impaired intellectual development and craniosynostosis1Aug 30, 2021
Succinate-semialdehyde dehydrogenase deficiency1Jul 22, 2021
Sucrase-isomaltase deficiency1May 17, 2021
Syncope1Sep 3, 2020
Syndromic X-linked intellectual disability Shashi type1Jul 22, 2021
TFE3-Associated Neurodevelopmental disorder1May 17, 2021
Tatton-Brown-rahman syndrome1Aug 30, 2021
Temple-Baraitser syndrome1Aug 30, 2021
Temtamy syndrome1Feb 5, 2021
Tenorio syndrome1Jul 22, 2021
Tetralogy of Fallot1May 17, 2021
Thyroid hormone resistance, generalized, autosomal dominant1Jul 22, 2021
Timothy syndrome1Feb 5, 2021
Townes-Brocks syndrome 11Jul 22, 2021
Tremor2Oct 13, 2020
Trichohepatoenteric syndrome 11Feb 5, 2021
Trigonocephaly1Dec 4, 2020
Tuberous sclerosis 21Aug 30, 2021
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to1Jul 22, 2021
Usher syndrome, type 2A1Feb 5, 2021
VACTERL association, X-linked, with or without hydrocephalus1May 17, 2021
Ventricular septal defect2Dec 4, 2020
Vici syndrome1Feb 5, 2021
Visual impairment1Dec 4, 2020
Waardenburg syndrome type 2E1May 17, 2021
Weaver syndrome1May 17, 2021
White-sutton syndrome1May 17, 2021
Wiedemann-Steiner syndrome5Aug 30, 2021
Witteveen-kolk syndrome3Aug 30, 2021
Wolf-Hirschhorn like syndrome1May 17, 2021
Wolfram syndrome 11Feb 5, 2021
Wolfram-like syndrome, autosomal dominant1Feb 5, 2021
X-linked intellectual disability-hypotonic face syndrome1May 17, 2021
Xia-Gibbs syndrome1Feb 5, 2021
ZNF711-Related X-linked Mental Retardation1May 17, 2021
ZTTK syndrome2May 17, 2021
Zimmermann-laband syndrome 31May 17, 2021
not provided134Aug 30, 2021
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