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HudsonAlpha Institute for Biotechnology (HudsonAlpha Institute for Biotechnology), HA

General information

HudsonAlpha Institute for Biotechnology, HA
HudsonAlpha Institute for Biotechnology
601 Genome Way
Suite 2005
Huntsville
Alabama
United States - 35806
http://hudsonalpha.org/
Organization ID: 505530

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1261

Gene

GeneSubmissionsLast Updated
AARS11Jul 30, 2019
ABCA72Oct 28, 2019
ABCC81Nov 28, 2022
ABCD11Mar 2, 2021
ABI31Oct 28, 2019
ACADVL1Jun 10, 2021
ACAN5Jun 10, 2021
ACTB1May 18, 2022
ACTC11Mar 9, 2020
ACTG11Jul 30, 2019
ACTL6B1Jul 31, 2019
ACTN12Feb 28, 2018
ADA22Nov 5, 2018
ADAM101Oct 28, 2019
ADAM231Nov 9, 2021
ADNP4Sep 9, 2021
AFDN1May 4, 2017
AFF31Jul 6, 2017
AFF41Jul 7, 2023
AGO12Apr 7, 2023
AGO41Jun 17, 2020
AGTPBP11Oct 20, 2020
AHDC11May 4, 2017
AHI12May 24, 2019
AKAP61Jul 30, 2019
ALDH18A13Jul 31, 2019
ALG12Mar 1, 2017
ALG122Jun 10, 2021
ANK11Aug 16, 2021
ANK22Apr 17, 2024
ANKRD119Jul 7, 2023
ANKRD172Sep 30, 2022
ANLN1Sep 26, 2022
ANOS11May 24, 2019
AP4B12Mar 6, 2020
AP4B1-AS11Mar 6, 2020
APC1Jul 17, 2018
APOB3Sep 9, 2021
APP2Oct 28, 2019
ARF11Aug 6, 2019
ARF61Aug 6, 2019
ARFGEF12Nov 28, 2022
ARHGAP41Sep 9, 2021
ARID1A1Mar 9, 2020
ARID1B6Aug 16, 2021
ARID22Nov 9, 2021
ARSA1Oct 28, 2019
ARV12Sep 9, 2021
ARX3Dec 21, 2017
ASCC32Sep 9, 2021
ASH1L2Nov 28, 2022
ASPM2Dec 21, 2017
ASTN21Nov 28, 2022
ASXL11Mar 9, 2020
ASXL32May 4, 2017
ATAD2B1Jan 25, 2024
ATM3Sep 26, 2022
ATP13A21Nov 28, 2022
ATP2B11Oct 28, 2022
ATP6V1A1Jul 7, 2023
ATP7A2May 18, 2022
ATP7B2Jul 6, 2017
ATPAF21Mar 9, 2020
ATRN1Jul 11, 2023
ATRX4May 18, 2022
AUTS21May 4, 2017
B4GALT72Jan 25, 2024
BARD13Aug 1, 2019
BAZ2B1Mar 3, 2016
BCL11A1Sep 9, 2021
BCL2L2-PABPN11May 24, 2019
BICD22Jun 10, 2021
BLTP12Oct 21, 2020
BMP21Mar 9, 2020
BMPR1B1Mar 9, 2020
BPTF3Jun 10, 2021
BRAF2Mar 2, 2021
BRAT11Nov 28, 2022
BRCA110Oct 26, 2020
BRCA217Nov 28, 2022
BRPF12Mar 9, 2020
BRPF31Jul 11, 2023
BRSK24Apr 15, 2019
C11orf651Sep 26, 2022
C2CD32Mar 9, 2020
C61May 18, 2022
C71May 18, 2022
CACNA1A9Jan 25, 2024
CACNA1E4Nov 28, 2022
CAMTA11May 24, 2019
CAPN32Jul 17, 2018
CAPRIN11Jul 7, 2023
CARM11Jan 8, 2021
CASK1Mar 6, 2020
CASP101Sep 9, 2021
CBL2Mar 6, 2020
CCM21Nov 28, 2022
CD961Aug 16, 2021
CDC42BPB1Sep 9, 2021
CDK131May 4, 2017
CDKL51Dec 11, 2017
CECR21May 18, 2022
CEL1Nov 28, 2022
CELF21Jul 7, 2023
CELSR11Mar 6, 2020
CEP1202Mar 9, 2020
CERT11Aug 16, 2021
CFTR8May 24, 2018
CFTR-AS11Jul 6, 2017
CHAT2Mar 9, 2020
CHD22May 4, 2017
CHD31Nov 8, 2017
CHD42Jul 11, 2023
CHD713May 18, 2022
CHEK22Sep 26, 2022
CIZ11Mar 3, 2016
CLCN13May 18, 2022
CLCNKB2Mar 9, 2020
CLPB2May 4, 2017
CLTC1Jul 31, 2019
CNOT11Jul 30, 2019
CNOT91Sep 28, 2022
CNTNAP12Nov 5, 2020
COASY2May 24, 2019
COL11A21Jul 11, 2023
COL12A12Jun 17, 2020
COL1A11Mar 9, 2020
COL1A21Aug 16, 2021
COL2A16Nov 9, 2021
COL4A12Jul 11, 2023
COL6A31Nov 12, 2018
COL7A11Mar 9, 2020
COL9A32Mar 9, 2020
CREBBP6May 18, 2022
CRELD11Nov 5, 2020
CSF1R1Oct 28, 2019
CSMD11May 4, 2017
CSNK1E2Jul 7, 2023
CSNK2B2May 18, 2022
CSTB1May 4, 2017
CTNND22Apr 27, 2023
CTR91May 4, 2017
CTSA1Nov 8, 2017
CUL4B1Nov 8, 2017
CUL92Jul 7, 2023
CYFIP12Jul 11, 2023
CYFIP21Jul 31, 2019
CYP11A11Mar 9, 2020
DCHS12Dec 21, 2017
DDX3X3Sep 9, 2021
DDX411Jul 6, 2017
DDX461May 18, 2022
DEAF11Feb 6, 2017
DENND5A2Feb 6, 2017
DEPDC52Sep 2, 2022
DHCR242Mar 9, 2020
DHCR74Oct 21, 2020
DHX151Jul 7, 2023
DHX301Dec 21, 2017
DHX342Jul 7, 2023
DHX401Oct 20, 2020
DIP2C1May 18, 2022
DLG31May 4, 2017
DLL41Jun 17, 2020
DNAH11Sep 9, 2021
DNAH142Jul 7, 2023
DNAH54Oct 21, 2020
DNAJC281May 4, 2017
DNHD12Nov 26, 2019
DNM11Mar 3, 2016
DNM21Sep 9, 2021
DNMT3A2Nov 8, 2017
DSG23Sep 9, 2021
DSG2-AS12Jul 6, 2017
DSPP1Jul 11, 2023
DUSP291Jun 17, 2020
DYNC1H15Nov 28, 2022
DYRK1A2May 4, 2017
DYSF1Jul 11, 2023
EBF33Mar 6, 2020
EDNRB1Nov 28, 2022
EFNB11Jun 17, 2020
EFTUD21Mar 9, 2020
EHMT14May 18, 2022
EP3002Mar 9, 2020
EPB41L11Nov 28, 2022
ERCC22Oct 21, 2020
ERF1Aug 16, 2021
EVC2Mar 9, 2020
EZH11Mar 6, 2020
F71May 18, 2022
F91Sep 9, 2021
FAM111A1Oct 21, 2020
FAM20A1Sep 9, 2021
FASN1Jul 7, 2023
FAT12Jul 7, 2023
FBLN51May 17, 2023
FBN12May 24, 2019
FBXO112Nov 28, 2022
FBXO281Jul 7, 2023
FER1Mar 6, 2020
FGF121May 4, 2017
FGF41Jun 10, 2021
FGFR11Nov 9, 2021
FGFR21Nov 26, 2019
FGFR32Jun 10, 2021
FKRP1Sep 15, 2023
FLCN1Oct 20, 2020
FLNA1Oct 21, 2020
FOXC12Mar 26, 2021
FOXG13May 4, 2017
FOXN11Aug 16, 2021
FOXO41Jul 7, 2023
FOXP21Jul 7, 2023
FOXP41Mar 9, 2020
FUCA11Jul 30, 2019
FYCO12Jul 6, 2017
GAA2Jun 17, 2020
GABRA11Mar 3, 2016
GABRA21Jul 7, 2023
GATA51Sep 9, 2021
GATA62Mar 2, 2021
GH-LCR2Aug 16, 2021
GJB23Sep 9, 2021
GJD2-DT1Mar 9, 2020
GLA2Aug 2, 2019
GLB12May 4, 2017
GLDC1Sep 9, 2021
GLDN1Jan 8, 2021
GLI11Oct 21, 2020
GLI33Jun 10, 2021
GMPPB2May 4, 2017
GNAO12Jan 25, 2024
GNAS1May 18, 2022
GNAS-AS11May 18, 2022
GNB21Mar 15, 2024
GOT22Jul 7, 2023
GPSM21Jul 11, 2023
GREB1L3Jun 10, 2021
GRHL31Sep 9, 2021
GRIA32May 4, 2017
GRID2IP1Oct 28, 2019
GRIK42Aug 18, 2022
GRIN11Mar 6, 2020
GRIN2A2May 19, 2022
GRIN2B3Jul 20, 2017
GRIN2D1Jul 30, 2019
GRIPAP11May 24, 2018
H3-3A1Apr 7, 2023
HARS11Jan 16, 2024
HBB3May 24, 2018
HCCS1Nov 9, 2021
HCFC13Mar 26, 2021
HDAC82May 4, 2017
HECTD42Jul 10, 2023
HEXA4Jul 6, 2017
HMBS1Sep 26, 2022
HNF1B1Oct 21, 2020
HNF4A1Mar 9, 2020
HNRNPK3Sep 9, 2021
HNRNPK-AS12Sep 9, 2021
HNRNPU3May 18, 2022
HNRNPUL21Mar 9, 2020
HNRNPUL2-BSCL21Mar 9, 2020
HOXB131Sep 26, 2022
HSALR12Nov 26, 2019
HUWE13May 18, 2022
IARS12Mar 6, 2020
IFIH12Nov 28, 2022
IGF1R1Oct 20, 2020
IGHMBP21Oct 21, 2020
INS1Sep 9, 2021
INSL62Nov 28, 2022
INVS2May 24, 2019
IQGAP11May 4, 2017
IQSEC21Jul 30, 2019
IRAK1BP11Dec 11, 2017
IRAK41May 18, 2022
ITGB31Aug 16, 2021
ITPR15Sep 9, 2021
JAG12Nov 28, 2022
JAK22Nov 28, 2022
JMJD1C1May 4, 2017
KAT2B1May 24, 2018
KAT6B1Jun 17, 2020
KCNB11Sep 9, 2021
KCNH21Aug 2, 2019
KCNK41Oct 21, 2020
KCNK4-CATSPERZ1Oct 21, 2020
KCNMA12May 18, 2022
KCNMA1-AS12May 18, 2022
KCNQ18Sep 2, 2021
KCNQ24Jul 7, 2023
KCNQ31Jul 6, 2017
KCNT12May 24, 2018
KDM1A1May 24, 2018
KDM3B1Nov 28, 2022
KDM5A1Nov 28, 2022
KDM5B2Aug 3, 2018
KDM5C1Jul 20, 2017
KDM6A1Jul 31, 2019
KDM6B1May 18, 2022
KIAA05862Sep 9, 2021
KIDINS2201Mar 31, 2023
KIF13A1Jul 7, 2023
KIF1A2May 4, 2017
KIF21A2Jul 7, 2023
KIF4A1May 18, 2022
KLF9-DT1Jul 7, 2023
KLHL151Mar 6, 2020
KLHL201Nov 28, 2022
KLHL403Jun 10, 2021
KMT2A2Mar 6, 2020
KMT2C1Jul 30, 2018
KMT2D7Nov 28, 2022
KMT5B1May 4, 2017
KRAS1Sep 9, 2021
KRIT11May 24, 2019
L1CAM1Dec 9, 2019
LAMA23Feb 16, 2024
LAMB31Jul 11, 2023
LDLR5Apr 7, 2020
LMTK31May 18, 2022
LOC1019275211Oct 21, 2020
LOC1019292081Aug 18, 2022
LOC1027240587Feb 21, 2023
LOC1060990623May 24, 2018
LOC1065017131Mar 9, 2020
LOC1071335103May 24, 2018
LOC1078821291Nov 28, 2022
LOC1100112161Jan 25, 2024
LOC1116744752May 24, 2018
LOC1215875741May 18, 2022
LOC1217406382Oct 21, 2020
LOC1254180731Oct 28, 2019
LOC1268060391Aug 6, 2019
LOC1268064231Sep 9, 2021
LOC1268064621Nov 28, 2022
LOC1268065902Sep 9, 2021
LOC1268070111Nov 28, 2022
LOC1268604031Mar 9, 2020
LOC1268611401May 4, 2017
LOC1268612582May 4, 2017
LOC1268618961Nov 26, 2019
LOC1268618981Jul 17, 2018
LOC1268623631Jul 7, 2023
LOC1268625713Aug 2, 2019
LOC1268626111Mar 6, 2020
LOC1268626731Jul 7, 2023
LOC1268627572May 24, 2018
LOC1268627651May 18, 2022
LOC1268628641Mar 1, 2018
LOC1268630841Mar 9, 2020
LOC1268632751Nov 12, 2018
LOC1299298371Mar 9, 2020
LOC1299327611Sep 9, 2021
LOC1299340691May 4, 2017
LOC1299350261May 4, 2017
LOC1299954001Jan 25, 2024
LOC1300053681Mar 2, 2021
LOC1300057401Oct 21, 2020
LOC1300077281Nov 9, 2021
LOC1300094521Nov 9, 2021
LOC1300555561Aug 6, 2019
LOC1300589071Sep 9, 2021
LOC1300604091Mar 9, 2020
LOXHD12Sep 9, 2021
LRP21May 18, 2022
LRRC71Nov 28, 2022
LZTR12Nov 28, 2022
MACF11Dec 21, 2017
MADD1Aug 16, 2021
MAGEL25May 18, 2022
MAP3K121Jul 11, 2023
MAP3K72Jun 17, 2020
MAPK8IP31May 24, 2018
MAPT1Oct 28, 2019
MARK23Jul 7, 2023
MAST12May 24, 2019
MC4R1Jul 6, 2017
MCF21Jul 7, 2023
MEA11Mar 3, 2016
MECP25Sep 9, 2021
MED121Nov 12, 2018
MED12L1May 18, 2022
MED131Apr 15, 2019
MED13L3May 24, 2018
MEF2C2Jul 11, 2023
METTL12Nov 9, 2021
MFF1May 24, 2018
MFN22Sep 26, 2022
MID11Mar 9, 2020
MID21Mar 3, 2016
MINK11May 18, 2022
MITF1Sep 26, 2022
MLH13Dec 9, 2019
MME3Oct 28, 2019
MMP21May 24, 2019
MMP201Nov 28, 2022
MMUT3Mar 9, 2020
MORC41Jul 7, 2023
MPDZ2Jun 17, 2020
MSC-AS11Jul 30, 2019
MSH22Aug 2, 2019
MSH65Nov 28, 2022
MT-ND11Jul 7, 2023
MT-ND51Jul 11, 2023
MT-TL11Mar 9, 2022
MTCL32May 18, 2022
MTOR5May 4, 2017
MTOR-AS12May 4, 2017
MUTYH7Apr 7, 2020
MVP-DT1Nov 26, 2019
MYBPC310Nov 28, 2022
MYCN1Jul 11, 2023
MYCNOS1Jul 11, 2023
MYH101May 18, 2022
MYH62Mar 9, 2020
MYH77Oct 21, 2020
MYOD11Jun 17, 2020
MYRF3Jun 17, 2020
MYT1L1May 4, 2017
NAA153Nov 28, 2022
NACC11Sep 9, 2021
NADSYN11Mar 2, 2021
NALCN1May 4, 2017
NAV32Sep 15, 2023
NBEA2Apr 4, 2019
NCAM21Nov 28, 2022
NCAPH21Sep 9, 2021
NDP1May 4, 2017
NDP-AS11May 4, 2017
NEB2May 24, 2019
NET11Mar 3, 2016
NEXMIF1Jun 27, 2016
NF15May 18, 2022
NFIA1Jul 7, 2023
NIPBL1Jun 10, 2021
NKX2-51Oct 21, 2020
NOG1Dec 9, 2019
NONO1May 18, 2022
NOTCH23Aug 16, 2021
NOTCH31Jan 25, 2024
NPHS13Jan 25, 2024
NRXN12May 4, 2017
NTRK21Feb 5, 2018
NUP2142Mar 26, 2021
OCA22Jul 6, 2017
OCRL1May 24, 2019
OPHN11May 4, 2017
OTOG2Sep 9, 2021
PABPN11May 24, 2019
PACS11May 4, 2017
PAK21Nov 9, 2021
PAK31Jul 30, 2019
PALB21Mar 9, 2020
PAN31Nov 9, 2021
PAN3-AS11Nov 9, 2021
PAX51Feb 28, 2018
PAX62May 18, 2022
PBX11Sep 9, 2021
PCDH191Nov 28, 2022
PCNX22May 4, 2017
PDE1B2Jul 7, 2023
PDHA15Nov 9, 2021
PEX12Nov 28, 2022
PEX261Mar 9, 2020
PFN11Nov 28, 2022
PHF141Sep 9, 2021
PHF61May 4, 2017
PHIP2Mar 6, 2020
PHLPP11Jul 7, 2023
PHOX2B3Jan 25, 2024
PIAS31Nov 26, 2019
PIEZO12Nov 26, 2019
PIGA1Mar 1, 2017
PIGN1Oct 21, 2020
PIGO2Mar 9, 2020
PIK3CA1Sep 9, 2021
PIK3CD1May 18, 2022
PKD21Jul 6, 2017
PKHD16Nov 9, 2021
PKP28Jan 8, 2021
PLCD11Oct 28, 2019
PLEC4Sep 9, 2021
PMM24Mar 9, 2020
PMS26Nov 28, 2022
POGZ3Jan 25, 2024
POLA11Sep 9, 2021
POLR2A2May 19, 2022
POLR2F1Sep 15, 2023
POMT12Oct 21, 2020
PPA22Nov 26, 2019
PPP1R101Sep 2, 2022
PPP2R1A2Feb 16, 2024
PPP2R5D1Mar 3, 2016
PPT12Sep 9, 2021
PREPL1Mar 2, 2021
PREX22May 4, 2017
PRF11May 24, 2019
PRKAG21Mar 17, 2023
PRKD11Mar 2, 2021
PRR121Jul 11, 2023
PRRT21Nov 26, 2019
PRTG1May 18, 2022
PSEN11Oct 28, 2019
PSMD11Sep 9, 2021
PTBP11Mar 6, 2020
PTCHD11Sep 9, 2021
PTEN2Dec 9, 2019
PTK21Jul 11, 2023
PTPN1111Sep 9, 2021
PTPRM1Nov 9, 2021
PTPRU1Jul 31, 2019
PTRH21Jul 7, 2023
PUF604Jul 7, 2023
PUM11Oct 21, 2020
PURA3Sep 9, 2021
RAC11May 24, 2019
RAF11Mar 9, 2020
RALA2Apr 4, 2019
RASGRF12May 24, 2018
RBMX1Jul 7, 2023
RBPJ1Nov 28, 2022
RERE1May 24, 2018
RET7Nov 28, 2022
RFXANK1Mar 9, 2020
RHOA1Nov 26, 2019
RINT11Oct 26, 2020
RIT11May 4, 2017
RNF1281May 18, 2022
RNF131Jun 17, 2020
ROCK11Nov 28, 2022
ROCK21May 4, 2017
RORA1Sep 9, 2021
RORA-AS11Sep 9, 2021
RORB1May 24, 2019
RPH3A1May 4, 2017
RPL36A-HNRNPH22Aug 2, 2019
RPL3L2Aug 16, 2021
RPS6KA31Sep 9, 2021
RRAS21Mar 2, 2021
RRP82Nov 26, 2019
RUBCN2Jul 7, 2023
RUFY31May 4, 2017
RYR111May 18, 2022
RYR21May 18, 2022
SALL12Mar 26, 2021
SALL41Dec 9, 2019
SAMD4B1Mar 2, 2021
SAMD92Mar 9, 2022
SATB23Nov 28, 2022
SCAF41Sep 9, 2021
SCN1A11Feb 21, 2023
SCN2A5Mar 6, 2023
SCN3A1Jul 7, 2023
SCN4A2Aug 16, 2021
SCN5A4Jan 16, 2024
SCN8A6Mar 6, 2023
SCO21Sep 9, 2021
SDHA1Dec 21, 2017
SDHB1Aug 2, 2019
SETBP11Jan 8, 2021
SETD51May 4, 2017
SF3B11Oct 21, 2020
SGTA1Mar 9, 2020
SHANK11May 18, 2022
SHANK21May 4, 2017
SHANK35Jul 7, 2023
SHH1Mar 9, 2020
SHOC22Nov 9, 2021
SKIC32Jul 31, 2019
SLC1A42Feb 5, 2018
SLC22A53Jul 6, 2017
SLC25A12Mar 9, 2020
SLC26A42May 24, 2019
SLC2A16Jan 8, 2021
SLC3A11Sep 26, 2022
SLC4A11Jul 6, 2017
SLC5A21Sep 9, 2021
SLC6A11Mar 3, 2016
SLC6A51Sep 26, 2022
SLC6A81Sep 2, 2022
SLC7A91Sep 26, 2022
SLC9A61Nov 28, 2022
SLITRK41Nov 28, 2022
SMARCA13Sep 9, 2021
SMARCA22May 4, 2017
SMARCA42Oct 21, 2020
SMC1A2Jun 17, 2020
SMC31Mar 3, 2016
SMCHD11Nov 28, 2022
SMS1May 18, 2022
SMURF11Sep 9, 2021
SNORD1182Sep 15, 2023
SNRPB1Feb 21, 2023
SNX142May 4, 2017
SOGA3-KIAA04082May 18, 2022
SORL11Oct 28, 2019
SOX101Sep 15, 2023
SOX52Jun 10, 2021
SP41Jul 11, 2023
SPECC1L1Mar 26, 2021
SPECC1L-ADORA2A1Mar 26, 2021
SPG114Nov 12, 2018
SPG71Sep 15, 2023
SPR2Mar 6, 2020
SPTAN11May 18, 2022
SPTBN52Jul 7, 2023
SPTLC11Sep 9, 2021
SRCAP1May 24, 2019
SSTR51May 24, 2019
STEEP11Nov 28, 2022
STING11Sep 9, 2021
STPG11Sep 9, 2021
STXBP12Jul 7, 2023
SUZ121Jul 31, 2019
SYNE11Jun 10, 2021
SYNGAP12Mar 3, 2016
SYNGAP1-AS12Mar 3, 2016
SYNJ21May 4, 2017
SYT11Aug 3, 2017
SYVN12Jul 7, 2023
TAB21Nov 28, 2022
TAF11Sep 9, 2021
TAPT11Oct 18, 2021
TBCD4Jul 7, 2023
TBL1XR12Jul 11, 2023
TBL1XR1-AS11Jul 11, 2023
TBR11May 4, 2017
TBX51Mar 9, 2020
TCF201May 4, 2017
TCF46Mar 6, 2020
TCF4-AS11Mar 6, 2020
TELO22Jul 6, 2017
TET31Jul 11, 2023
TFAP2A2Oct 21, 2020
TFAP2A-AS22Oct 21, 2020
TGDS1Oct 21, 2020
THOC21Jan 25, 2024
TK21Oct 21, 2020
TLK21Mar 6, 2020
TLN11Sep 2, 2022
TM2D31Oct 28, 2019
TMCO11Oct 18, 2021
TMEM1072Sep 15, 2023
TMEM132D1May 24, 2019
TMEM2604Aug 17, 2021
TMEM431May 18, 2022
TMEM701Nov 9, 2021
TNK11Oct 28, 2019
TNNT31Jun 10, 2021
TOP2B1Sep 2, 2022
TOR1A4Jul 7, 2023
TP632Mar 9, 2020
TPM31Mar 9, 2020
TPP12Mar 3, 2016
TPTEP2-CSNK1E2Jul 7, 2023
TRAF71Mar 9, 2020
TRAPPC41Jul 7, 2023
TRAPPC92Jul 30, 2018
TRIM81Nov 28, 2022
TRIO3Jul 11, 2023
TRPA11Jul 30, 2019
TRPM31Jul 7, 2023
TSC11Mar 2, 2021
TSC21May 18, 2022
TSEN542May 18, 2022
TTBK11Jul 7, 2023
TTC192Oct 21, 2020
TTC31Oct 28, 2019
TTC36-AS11Mar 6, 2020
TTC7A2Mar 9, 2020
TTN2Sep 15, 2023
TTN-AS12Sep 15, 2023
TTPA1May 4, 2017
TUBB2Sep 9, 2021
TUBB2A1Jul 7, 2023
TUBB2B2Mar 26, 2021
TUBGCP22Jul 7, 2023
TYMP1Sep 9, 2021
TYR2Jan 25, 2024
U2AF22Sep 9, 2021
UBE2I1Nov 28, 2022
UBE3B2Nov 26, 2019
UFSP21Jul 11, 2023
ULK43Aug 9, 2016
UNC501Oct 26, 2020
UNC802May 4, 2017
UPF11Jul 7, 2023
USP111Oct 21, 2020
USP9X1Jun 17, 2020
VAV11Jul 11, 2023
VPS13C2Oct 28, 2019
WAPL1Jul 12, 2023
WARS22May 4, 2017
WDFY32May 18, 2022
WDPCP2Jun 10, 2021
WDR264Sep 9, 2021
WDR441May 24, 2019
WDR453Jul 7, 2023
WNK31Jul 7, 2023
XRCC42May 24, 2019
XYLT21Jul 7, 2023
YWHAZ1Dec 11, 2017
ZBTB101May 18, 2022
ZBTB182May 24, 2018
ZC4H21Mar 9, 2020
ZDHHC92Sep 2, 2022
ZEB23May 24, 2018
ZMIZ12Apr 15, 2019
ZMYM22Oct 21, 2020
ZMYM31May 24, 2019
ZMYND111May 4, 2017
ZNF2361May 18, 2022
ZNF2921May 24, 2019
ZNF4621Mar 3, 2016
ZNF5321May 18, 2022
ZNF5361Oct 20, 2020
ZNF7501Nov 28, 2022
ZNFX12Sep 15, 2023

Condition

NameSubmissionsLast Updated
2-3 toe syndactyly2Jul 7, 2023
2-hydroxyglutaric aciduria2Mar 9, 2020
3-methylglutaconic aciduria, type VIIB2May 4, 2017
8q24.3 microdeletion syndrome3Jul 7, 2023
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder4Sep 9, 2021
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome1May 4, 2017
ALG1-congenital disorder of glycosylation2Mar 1, 2017
ALG12-congenital disorder of glycosylation2Jun 10, 2021
Abnormal facial shape10Jul 7, 2023
Abnormal testis morphology1Jul 7, 2023
Abnormality of pain sensation1May 18, 2022
Abnormality of the face2Jul 7, 2023
Abnormality of the outer ear1Jul 12, 2023
Absent/hypoplastic coccyx2Jul 7, 2023
Acquired polycythemia vera1Sep 9, 2021
Acrocephalosyndactyly type I1Nov 26, 2019
Acromesomelic dysplasia 31Mar 9, 2020
Acute intermittent porphyria1Sep 26, 2022
Adams-Oliver syndrome 31Nov 28, 2022
Adams-Oliver syndrome 61Jun 17, 2020
Adrenoleukodystrophy1Mar 2, 2021
Aggressive behavior1May 18, 2022
Aicardi-Goutieres syndrome 72Nov 28, 2022
Alagille syndrome due to a JAG1 point mutation2Nov 28, 2022
Alagille syndrome due to a NOTCH2 point mutation1Aug 16, 2021
Alkuraya-Kucinskas syndrome2Oct 21, 2020
Amelogenesis imperfecta hypomaturation type 2A21Nov 28, 2022
Amelogenesis imperfecta type 1A1Jul 11, 2023
Amelogenesis imperfecta type 1G1Sep 9, 2021
Amyotrophic lateral sclerosis type 181Nov 28, 2022
Aniridia 11Jul 30, 2018
Anterior segment dysgenesis 31Jan 8, 2021
Anxiety5Jul 11, 2023
Aplasia/Hypoplasia of the macula1Jul 7, 2023
Apraxia1Jul 7, 2023
Arrhinia with choanal atresia and microphthalmia syndrome1Nov 28, 2022
Arrhythmogenic right ventricular dysplasia 101Sep 9, 2021
Arrhythmogenic right ventricular dysplasia 98Jan 8, 2021
Arthritis2Jul 7, 2023
Arthrogryposis multiplex congenita 3, myogenic type1Jun 10, 2021
Arthrogryposis multiplex congenita 52Jul 7, 2023
Arthrogryposis, distal, type 2B21Jun 10, 2021
Astigmatism1May 18, 2022
Ataxia-telangiectasia syndrome3Sep 26, 2022
Atrial septal defect4Jul 11, 2023
Atrial septal defect 32Mar 9, 2020
Atrial septal defect 91Mar 2, 2021
Atrioventricular septal defect, susceptibility to, 21Nov 5, 2020
Atrophia bulborum hereditaria1May 4, 2017
Attention deficit hyperactivity disorder11Jul 11, 2023
Atypical behavior1Jul 7, 2023
Au-Kline syndrome3Sep 9, 2021
Autism16Jul 11, 2023
Autism spectrum disorder due to AUTS2 deficiency1May 4, 2017
Autism, susceptibility to, 171May 4, 2017
Autism, susceptibility to, X-linked 41Sep 9, 2021
Autistic behavior8Jul 11, 2023
Autoimmune lymphoproliferative syndrome type 2A1Sep 9, 2021
Autosomal dominant Charcot-Marie-Tooth disease type 2W1Jan 16, 2024
Autosomal dominant Opitz G/BBB syndrome1Mar 26, 2021
Autosomal dominant centronuclear myopathy1Sep 9, 2021
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1May 4, 2017
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1Dec 9, 2019
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1Jul 11, 2023
Autosomal recessive distal spinal muscular atrophy 11Oct 21, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2A2Jul 17, 2018
Autosomal recessive limb-girdle muscular dystrophy type 2B1Jul 11, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2I1Sep 15, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2K2Oct 21, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2Q4Sep 9, 2021
Autosomal recessive limb-girdle muscular dystrophy type 2T2May 4, 2017
Autosomal recessive nonsyndromic hearing loss 18B2Sep 9, 2021
Autosomal recessive nonsyndromic hearing loss 1A3Sep 9, 2021
Autosomal recessive nonsyndromic hearing loss 772Sep 9, 2021
Autosomal recessive spinocerebellar ataxia 152Jul 7, 2023
Autosomal recessive spinocerebellar ataxia 202May 4, 2017
Axenfeld-Rieger syndrome type 32Mar 26, 2021
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations1Sep 2, 2022
Baraitser-Winter syndrome 11May 18, 2022
Baraitser-winter syndrome 21Jul 30, 2019
Bartter disease type 32Mar 9, 2020
Beck-Fahrner syndrome1Jul 11, 2023
Bethlem myopathy 1A1Nov 12, 2018
Bleeding disorder, platelet-type, 241Aug 16, 2021
Blepharophimosis - intellectual disability syndrome, SBBYS type1Jun 17, 2020
Bohring-Opitz syndrome1Mar 9, 2020
Borjeson-Forssman-Lehmann syndrome1May 4, 2017
Bradycardia1Jul 7, 2023
Brain malformations with or without urinary tract defects1Jul 7, 2023
Brain small vessel disease 1 with or without ocular anomalies1Oct 21, 2020
Branchiooculofacial syndrome2Oct 21, 2020
Breast-ovarian cancer, familial, susceptibility to, 110Oct 26, 2020
Breast-ovarian cancer, familial, susceptibility to, 217Nov 28, 2022
Broad eyebrow1Jul 11, 2023
Brugada syndrome 11Aug 16, 2021
Bulbous nose1Jul 11, 2023
C syndrome1Aug 16, 2021
CBL-related disorder2Mar 6, 2020
CHARGE syndrome12May 18, 2022
Cardiac anomalies - developmental delay - facial dysmorphism syndrome3May 24, 2018
Cardiac arrhythmia2Jul 11, 2023
Cardiac arrhythmia, ankyrin-B-related1Apr 17, 2024
Cardiac, facial, and digital anomalies with developmental delay1Mar 9, 2020
Cardiac-urogenital syndrome2Jun 17, 2020
Cardiofaciocutaneous syndrome 12Mar 2, 2021
Cardiomyopathy, dilated, 2D2Aug 16, 2021
Cardiospondylocarpofacial syndrome2Jun 17, 2020
Cataract 182Jul 6, 2017
Catecholaminergic polymorphic ventricular tachycardia 11May 18, 2022
Catel-Manzke syndrome1Oct 21, 2020
Central core myopathy4May 18, 2022
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease1Jan 25, 2024
Cerebellar ataxia5Jul 7, 2023
Cerebellar dysfunction with variable cognitive and behavioral abnormalities1May 24, 2019
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11Jan 25, 2024
Cerebral cavernous malformation1May 24, 2019
Cerebral cavernous malformation 21Nov 28, 2022
Cerebral white matter hypoplasia1Jul 7, 2023
Cerebro-costo-mandibular syndrome1Feb 21, 2023
Cerebrooculofacioskeletal syndrome 22Oct 21, 2020
Charcot-Marie-Tooth disease axonal type 2N1Jul 30, 2019
Charcot-Marie-Tooth disease axonal type 2T2May 4, 2017
Charcot-Marie-Tooth disease axonal type 2X2May 20, 2016
Charcot-Marie-Tooth disease type 2A22Sep 26, 2022
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1Sep 26, 2022
Charcot-Marie-Tooth disease, demyelinating, IIA 1H1May 17, 2023
Chiari malformation1Jul 7, 2023
Childhood apraxia of speech1Jul 7, 2023
Childhood onset GLUT1 deficiency syndrome 23Mar 6, 2020
Christianson syndrome1Nov 28, 2022
Chromosome 2q32-q33 deletion syndrome3Nov 28, 2022
Chudley-McCullough syndrome1Jul 11, 2023
Ciliary dyskinesia, primary, 371Sep 9, 2021
Cleft lip1May 18, 2022
Cleft palate1May 18, 2022
Clinodactyly3Jul 7, 2023
Clubfoot1Jul 12, 2023
Coffin-Lowry syndrome1Sep 9, 2021
Coffin-Siris syndrome 16Aug 16, 2021
Coffin-Siris syndrome 61Nov 9, 2021
Cognitive impairment2Jul 11, 2023
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1Jul 7, 2023
Cognitive regression1Jul 11, 2023
Colitis1Jul 11, 2023
Colorectal cancer1Sep 26, 2022
Colorectal cancer, hereditary nonpolyposis, type 23Dec 9, 2019
Combined deficiency of sialidase AND beta galactosidase1Nov 8, 2017
Complement component 6 deficiency1May 18, 2022
Complement component 7 deficiency1May 18, 2022
Complex cortical dysplasia with other brain malformations 51Jul 7, 2023
Complex cortical dysplasia with other brain malformations 62Sep 9, 2021
Complex cortical dysplasia with other brain malformations 72Mar 26, 2021
Complex lethal osteochondrodysplasia1Oct 18, 2021
Compulsive behaviors2Jul 7, 2023
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency1Mar 9, 2020
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay1Sep 9, 2021
Congenital central hypoventilation2Nov 9, 2021
Congenital contractures of the limbs and face, hypotonia, and developmental delay1May 4, 2017
Congenital factor VII deficiency1May 18, 2022
Congenital fibrosis of extraocular muscles type 12Jul 7, 2023
Congenital heart defects and ectodermal dysplasia1Mar 2, 2021
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1May 4, 2017
Congenital heart defects, multiple types, 21Nov 28, 2022
Congenital heart defects, multiple types, 51Sep 9, 2021
Congenital laryngomalacia1Jul 7, 2023
Congenital multicore myopathy with external ophthalmoplegia1Nov 9, 2021
Congenital muscular hypertrophy-cerebral syndrome2Jun 17, 2020
Congenital myopathy 4B, autosomal recessive1Mar 9, 2020
Congenital myotonia, autosomal dominant form3May 18, 2022
Cornelia de Lange syndrome 11Jun 10, 2021
Cornelia de Lange syndrome 31Mar 3, 2016
Cornelia de Lange syndrome 52May 4, 2017
Coronary artery atherosclerosis2Jul 7, 2023
Corticobasal syndrome2Oct 28, 2019
Cowden syndrome 11Dec 9, 2019
Cowden syndrome 51Sep 9, 2021
Cranial asymmetry1Jul 11, 2023
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 11Oct 18, 2021
Craniofrontonasal syndrome1Jun 17, 2020
Craniosynostosis 41Aug 16, 2021
Creatine transporter deficiency1Sep 2, 2022
Cystic fibrosis8May 24, 2018
Cystinuria2Sep 26, 2022
DDX41-related hematologic malignancy predisposition syndrome1Jul 6, 2017
DYRK1A-related intellectual disability syndrome2May 4, 2017
Decreased body weight1May 18, 2022
Decreased response to growth hormone stimulation test1Jul 7, 2023
Deeah syndrome1Aug 16, 2021
Deeply set eye1Jul 11, 2023
Delayed gross motor development1May 18, 2022
Delayed skeletal maturation2Jul 7, 2023
Delayed speech and language development30Jul 11, 2023
Dent disease type 21May 24, 2019
Dental crowding1Jul 11, 2023
Dentinogenesis imperfecta type 21Jul 11, 2023
Desmosterolosis2Mar 9, 2020
Developmental and epileptic encephalopathy 1001Jul 7, 2023
Developmental and epileptic encephalopathy 1061Jul 11, 2023
Developmental and epileptic encephalopathy 6B2Nov 9, 2021
Developmental and epileptic encephalopathy 942May 4, 2017
Developmental and epileptic encephalopathy 971Jul 7, 2023
Developmental and epileptic encephalopathy, 12Dec 21, 2017
Developmental and epileptic encephalopathy, 115Mar 6, 2023
Developmental and epileptic encephalopathy, 136Mar 6, 2023
Developmental and epileptic encephalopathy, 142May 24, 2018
Developmental and epileptic encephalopathy, 171Jan 25, 2024
Developmental and epileptic encephalopathy, 191Mar 3, 2016
Developmental and epileptic encephalopathy, 21Dec 11, 2017
Developmental and epileptic encephalopathy, 261Sep 9, 2021
Developmental and epileptic encephalopathy, 272Jul 20, 2017
Developmental and epileptic encephalopathy, 311Mar 3, 2016
Developmental and epileptic encephalopathy, 382Sep 9, 2021
Developmental and epileptic encephalopathy, 42Jul 7, 2023
Developmental and epileptic encephalopathy, 424Jan 25, 2024
Developmental and epileptic encephalopathy, 461Jul 30, 2019
Developmental and epileptic encephalopathy, 471May 4, 2017
Developmental and epileptic encephalopathy, 492Feb 6, 2017
Developmental and epileptic encephalopathy, 51May 18, 2022
Developmental and epileptic encephalopathy, 543May 18, 2022
Developmental and epileptic encephalopathy, 581Feb 5, 2018
Developmental and epileptic encephalopathy, 621Jul 7, 2023
Developmental and epileptic encephalopathy, 651Jul 31, 2019
Developmental and epileptic encephalopathy, 693Nov 28, 2022
Developmental and epileptic encephalopathy, 74Jul 7, 2023
Developmental and epileptic encephalopathy, 781Jul 7, 2023
Developmental and epileptic encephalopathy, 822Jul 7, 2023
Developmental and epileptic encephalopathy, 91Nov 28, 2022
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures1Nov 28, 2022
Developmental regression1Jul 7, 2023
Diabetes mellitus, permanent neonatal 41Sep 9, 2021
Dias-Logan syndrome1Sep 9, 2021
Diets-Jongmans syndrome1Nov 28, 2022
Dilated cardiomyopathy 1BB2Jul 6, 2017
Dilated cardiomyopathy 1G2Sep 15, 2023
Dilated cardiomyopathy 1R1Mar 9, 2020
Donnai-Barrow syndrome1May 18, 2022
Dopa-responsive dystonia due to sepiapterin reductase deficiency2Mar 6, 2020
Duane-radial ray syndrome1Dec 9, 2019
Dyslexia2Jul 11, 2023
Dysmorphism1Sep 9, 2021
Dystonic disorder1Jul 7, 2023
Early-onset dementia of unclear type5Oct 28, 2019
Early-onset generalized limb-onset dystonia1May 24, 2018
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome3Jul 7, 2023
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 32Mar 9, 2020
Ehlers-Danlos syndrome, spondylodysplastic type, 12Jan 25, 2024
Ellis-van Creveld syndrome2Mar 9, 2020
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1May 18, 2022
Encephalomalacia2Jul 7, 2023
Encephalopathy due to GLUT1 deficiency3Jan 8, 2021
Encephalopathy due to defective mitochondrial and peroxisomal fission 21May 24, 2018
Encephalopathy, acute, infection-induced, susceptibility to, 92Mar 26, 2021
Epicanthus2Jul 11, 2023
Epilepsy, familial focal, with variable foci 12Sep 2, 2022
Epilepsy, idiopathic generalized, susceptibility to, 151May 24, 2019
Epileptic encephalopathy, infantile or early childhood, 31Jul 7, 2023
Epiphyseal dysplasia, multiple, 32Mar 9, 2020
Episodic ataxia type 25Jan 25, 2024
Esotropia1Jul 7, 2023
Expressive language delay1Jul 11, 2023
FG syndrome 11Nov 12, 2018
Fabry disease2Aug 2, 2019
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome1Oct 21, 2020
Failure to thrive4Jul 11, 2023
Falls1Jul 11, 2023
Familial adenomatous polyposis 11Jul 17, 2018
Familial adenomatous polyposis 27Apr 7, 2020
Familial cancer of breast7Sep 26, 2022
Familial episodic pain syndrome with predominantly upper body involvement1Jul 30, 2019
Familial hemophagocytic lymphohistiocytosis 21May 24, 2019
Familial hypobetalipoproteinemia 11Dec 9, 2019
Familial infantile myasthenia2Mar 9, 2020
Familial isolated deficiency of vitamin E1May 4, 2017
Familial medullary thyroid carcinoma3Dec 9, 2019
Familial renal glucosuria1Sep 9, 2021
Fanconi anemia complementation group N1Mar 9, 2020
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1Mar 9, 2020
Feingold syndrome type 11Jul 11, 2023
Finger clinodactyly1Jul 7, 2023
Finnish congenital nephrotic syndrome3Jan 25, 2024
Floating-Harbor syndrome1May 24, 2019
Focal impaired awareness seizure1Jul 7, 2023
Focal segmental glomerulosclerosis 81Sep 26, 2022
Focal segmental glomerulosclerosis and neurodevelopmental syndrome1Nov 28, 2022
Frontotemporal dementia7Oct 28, 2019
Fucosidosis1Jul 30, 2019
GM1 gangliosidosis type 22May 4, 2017
Generalized epilepsy with febrile seizures plus, type 21Jun 10, 2021
Generalized epilepsy-paroxysmal dyskinesia syndrome1Aug 3, 2018
Generalized muscle weakness1Sep 2, 2022
Genitopatellar syndrome1Jun 17, 2020
Gillespie syndrome2Sep 9, 2021
Global developmental delay9Jul 11, 2023
Glycogen storage disease, type II2Jun 17, 2020
Gray matter heterotopia1Jul 7, 2023
Greig cephalopolysyndactyly syndrome2Jul 30, 2019
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy2Mar 6, 2020
Hajdu-Cheney syndrome2Mar 9, 2020
Hb SS disease1May 24, 2018
Hearing impairment3Jul 11, 2023
Heart defect - tongue hamartoma - polysyndactyly syndrome2Jun 10, 2021
Heimler syndrome 12Nov 28, 2022
Hereditary factor IX deficiency disease1Sep 9, 2021
Hereditary spastic paraplegia 112Nov 12, 2018
Hereditary spastic paraplegia 472Mar 6, 2020
Hereditary spastic paraplegia 71Sep 15, 2023
Hereditary spastic paraplegia 9A1Feb 28, 2018
Hereditary spherocytosis type 11Aug 16, 2021
Hereditary spherocytosis type 41Jul 6, 2017
High palate1Jul 11, 2023
Hip dislocation1Jul 11, 2023
Hirschsprung disease, susceptibility to, 12Nov 28, 2022
Hogue-Janssens syndrome 11Mar 3, 2016
Holoprosencephaly 31Mar 9, 2020
Holt-Oram syndrome1Mar 9, 2020
Houge-Janssens syndrome 22Feb 16, 2024
Hydrocephalus, nonsyndromic, autosomal recessive 22Jun 17, 2020
Hyperactivity1Jul 11, 2023
Hypercholesterolemia, autosomal dominant, type B2Sep 9, 2021
Hypercholesterolemia, familial, 15Apr 7, 2020
Hyperekplexia 31Sep 26, 2022
Hyperinsulinemic hypoglycemia, familial, 11Nov 28, 2022
Hyperphosphatasia with intellectual disability syndrome 22Mar 9, 2020
Hypertensive disorder2Jul 7, 2023
Hypertonia2Jul 11, 2023
Hypertrophic cardiomyopathy 17Oct 21, 2020
Hypertrophic cardiomyopathy 410Nov 28, 2022
Hypogonadotropic hypogonadism 1 with or without anosmia1May 24, 2019
Hypospadias3Jul 7, 2023
Hypotonia12Jul 11, 2023
Hypotonia, ataxia, and delayed development syndrome2Mar 6, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22May 4, 2017
Immunodeficiency 14b, autosomal recessive1May 18, 2022
Immunodeficiency 671May 18, 2022
Immunodeficiency 91 and hyperinflammation2Sep 15, 2023
Imperforate anus2Jul 7, 2023
Infantile convulsions and choreoathetosis1Nov 26, 2019
Infantile liver failure syndrome 31Oct 26, 2020
Infantile nephronophthisis2May 24, 2019
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities2Nov 28, 2022
Intellectual developmental disorder with dysmorphic facies and ptosis2Mar 9, 2020
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Sep 9, 2021
Intellectual developmental disorder with severe speech and ambulation defects1Jul 31, 2019
Intellectual developmental disorder, autosomal dominant 661Oct 28, 2022
Intellectual disability1May 18, 2022
Intellectual disability (severe)1Jun 27, 2016
Intellectual disability, X-linked 11Jul 30, 2019
Intellectual disability, X-linked 1001May 18, 2022
Intellectual disability, X-linked 1011Mar 3, 2016
Intellectual disability, X-linked 1023Sep 9, 2021
Intellectual disability, X-linked 1031Mar 6, 2020
Intellectual disability, X-linked 1071Nov 28, 2022
Intellectual disability, X-linked 301Jul 30, 2019
Intellectual disability, X-linked 901May 4, 2017
Intellectual disability, X-linked 99, syndromic, female-restricted1Jun 17, 2020
Intellectual disability, X-linked syndromic, Turner type3May 18, 2022
Intellectual disability, X-linked, syndromic 331Sep 9, 2021
Intellectual disability, X-linked, with or without seizures, arx-related1Dec 21, 2017
Intellectual disability, autosomal dominant 111Nov 28, 2022
Intellectual disability, autosomal dominant 134Nov 28, 2022
Intellectual disability, autosomal dominant 141Mar 9, 2020
Intellectual disability, autosomal dominant 162Oct 21, 2020
Intellectual disability, autosomal dominant 202Jul 11, 2023
Intellectual disability, autosomal dominant 222May 24, 2018
Intellectual disability, autosomal dominant 241Feb 6, 2017
Intellectual disability, autosomal dominant 301May 4, 2017
Intellectual disability, autosomal dominant 341Aug 16, 2021
Intellectual disability, autosomal dominant 391May 4, 2017
Intellectual disability, autosomal dominant 411Jul 11, 2023
Intellectual disability, autosomal dominant 481May 24, 2019
Intellectual disability, autosomal dominant 52Mar 3, 2016
Intellectual disability, autosomal dominant 503Nov 28, 2022
Intellectual disability, autosomal dominant 522Nov 28, 2022
Intellectual disability, autosomal dominant 561Jul 31, 2019
Intellectual disability, autosomal dominant 571Mar 6, 2020
Intellectual disability, autosomal dominant 62Jul 20, 2017
Intellectual disability, autosomal dominant 81Mar 6, 2020
Intellectual disability, autosomal dominant 92May 4, 2017
Intellectual disability, autosomal recessive 132Jul 30, 2018
Intellectual disability, moderate24Jul 7, 2023
Intellectual disability, severe2Jul 7, 2023
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1May 4, 2017
Intellectual disability-hypotonic facies syndrome, X-linked, 14May 18, 2022
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome3Jan 25, 2024
Irido-corneo-trabecular dysgenesis1May 18, 2022
Joint laxity1Jul 7, 2023
Joubert syndrome 232Sep 9, 2021
Joubert syndrome 32May 24, 2019
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke2Jul 11, 2023
KBG syndrome9Jul 7, 2023
Kabuki syndrome 17Nov 28, 2022
Kabuki syndrome 21Jul 31, 2019
Kleefstra syndrome 14May 18, 2022
Kleefstra syndrome 21Jul 30, 2018
Kniest dysplasia1Nov 9, 2021
Kufor-Rakeb syndrome1Nov 28, 2022
Lamb-Shaffer syndrome2Jun 10, 2021
Landau-Kleffner syndrome1May 4, 2017
Large for gestational age1Jul 12, 2023
Lateral meningocele syndrome1Jan 25, 2024
Lethal congenital contracture syndrome 111Jan 8, 2021
Lethal congenital contracture syndrome 72Nov 5, 2020
Leukemia, acute lymphoblastic, susceptibility to, 31Feb 28, 2018
Leukoencephalopathy with calcifications and cysts2Sep 15, 2023
Liang-Wang syndrome1May 18, 2022
Linear skin defects with multiple congenital anomalies 11Nov 9, 2021
Long QT syndrome 18Sep 2, 2021
Long QT syndrome 21Aug 2, 2019
Long QT syndrome 33Jan 16, 2024
Lymphatic malformation 62Nov 26, 2019
Lynch syndrome 12Aug 2, 2019
Lynch syndrome 46Nov 28, 2022
Lynch syndrome 54May 18, 2022
MHC class II deficiency1Mar 9, 2020
MIRAGE syndrome2Mar 9, 2022
Macrocephaly4Jul 11, 2023
Macrocephaly at birth1Jul 12, 2023
Macrocephaly-autism syndrome1Aug 3, 2017
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome5May 4, 2017
Macrotia1May 18, 2022
Malignant hyperthermia, susceptibility to, 16Sep 9, 2021
Malignant tumor of prostate1Sep 26, 2022
Mandibular prognathia1Jul 11, 2023
Mandibulofacial dysostosis-microcephaly syndrome1Mar 9, 2020
Marfan syndrome2May 24, 2019
Maturity-onset diabetes of the young type 81Nov 28, 2022
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1May 24, 2019
Melanoma, cutaneous malignant, susceptibility to, 81Sep 26, 2022
Melnick-Needles syndrome1Oct 21, 2020
Menke-Hennekam syndrome 12May 18, 2022
Menkes kinky-hair syndrome2May 18, 2022
Merosin deficient congenital muscular dystrophy3Feb 16, 2024
Methylmalonic acidemia with homocystinuria, type cblX3Mar 26, 2021
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency3Mar 9, 2020
Microcephaly2Jul 7, 2023
Microcephaly 5, primary, autosomal recessive2Dec 21, 2017
Micrognathia1May 18, 2022
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome3Jul 11, 2023
Midface retrusion2Jul 11, 2023
Migraine1Jul 7, 2023
Migraine, familial hemiplegic, 12Jan 25, 2024
Mild global developmental delay2Jul 7, 2023
Mitochondrial DNA depletion syndrome, myopathic form1Oct 21, 2020
Mitochondrial complex III deficiency nuclear type 22Oct 21, 2020
Mitochondrial complex V (ATP synthase) deficiency nuclear type 21Nov 9, 2021
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 11Mar 9, 2020
Motor delay2May 18, 2022
Motor stereotypies1Jul 7, 2023
Mowat-Wilson syndrome3May 24, 2018
Multicentric osteolysis nodulosis arthropathy spectrum1May 24, 2019
Multiple congenital anomalies-hypotonia-seizures syndrome 11Oct 21, 2020
Multiple congenital anomalies-hypotonia-seizures syndrome 21Mar 1, 2017
Multiple endocrine neoplasia type 2A2Sep 9, 2021
Multiple gastrointestinal atresias2Mar 9, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51Sep 15, 2023
Muscular dystrophy-dystroglycanopathy type B51Sep 15, 2023
Myasthenic syndrome, congenital, 221Mar 2, 2021
Myoclonic-astatic epilepsy1Mar 3, 2016
Myofibromatosis, infantile, 21Jan 25, 2024
Myopia 61Sep 9, 2021
Narrow mouth1May 18, 2022
Nemaline myopathy 22May 24, 2019
Nemaline myopathy 83Jun 10, 2021
Neurodegeneration with brain iron accumulation 53Jul 7, 2023
Neurodegeneration with brain iron accumulation 62May 24, 2019
Neurodevelopmental delay1Sep 28, 2022
Neurodevelopmental disorder1Sep 9, 2021
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures1Nov 28, 2022
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities1May 18, 2022
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies3Jun 10, 2021
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1Sep 9, 2021
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy1Jul 7, 2023
Neurodevelopmental disorder with hypotonia and dysmorphic facies1Mar 15, 2024
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures1Jul 7, 2023
Neurodevelopmental disorder with involuntary movements2Jan 25, 2024
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1May 24, 2018
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum2Jul 10, 2023
Neurofibromatosis, type 14May 18, 2022
Neurofibromatosis-Noonan syndrome1Jun 10, 2021
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 11Jul 7, 2023
Neuronal ceroid lipofuscinosis 12Sep 9, 2021
Neuronal ceroid lipofuscinosis 22Mar 3, 2016
Neuroocular syndrome1Jul 11, 2023
Neuropathy, hereditary sensory and autonomic, type 1A1Sep 9, 2021
Neutropenia1May 18, 2022
Nicolaides-Baraitser syndrome2May 4, 2017
Non-ketotic hyperglycinemia1Sep 9, 2021
Noonan syndrome 111Sep 9, 2021
Noonan syndrome 101Oct 21, 2020
Noonan syndrome 121Mar 2, 2021
Noonan syndrome 21Nov 28, 2022
Noonan syndrome 31Sep 9, 2021
Noonan syndrome 51Mar 9, 2020
Noonan syndrome 81May 4, 2017
Noonan syndrome-like disorder with loose anagen hair 12Nov 9, 2021
Obesity5Jul 11, 2023
Oculocerebrofacial syndrome, Kaufman type2Nov 26, 2019
Oculocutaneous albinism type 1B2Jan 25, 2024
Oculopharyngeal muscular dystrophy1May 24, 2019
Optic atrophy1May 18, 2022
Orofaciodigital syndrome type 142Mar 9, 2020
Osteochondritis dissecans3Jun 10, 2021
Osteocraniostenosis1Oct 21, 2020
Osteogenesis imperfecta type III1Mar 9, 2020
Osteogenesis imperfecta, perinatal lethal1Aug 16, 2021
Otospondylomegaepiphyseal dysplasia, autosomal dominant1Jul 11, 2023
PCWH syndrome1Sep 15, 2023
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Mar 6, 2020
PMM2-congenital disorder of glycosylation4Mar 9, 2020
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome3Sep 9, 2021
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures2Jul 7, 2023
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome1May 24, 2018
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome1Mar 9, 2020
Paraganglioma1May 18, 2022
Paragangliomas 41Aug 2, 2019
Paragangliomas 51Dec 21, 2017
Paramyotonia congenita of Von Eulenburg2Aug 16, 2021
Patent ductus arteriosus1Jul 7, 2023
Pendred syndrome2May 24, 2019
Peripheral pulmonary artery stenosis2Jul 7, 2023
Periventricular heterotopia1Jul 7, 2023
Periventricular leukomalacia2Jul 7, 2023
Periventricular nodular heterotopia 81Aug 6, 2019
Peroxisome biogenesis disorder 7A (Zellweger)1Mar 9, 2020
Pes planus1Jul 11, 2023
Pfeiffer syndrome1Nov 9, 2021
Phelan-McDermid syndrome5Jul 7, 2023
Pheochromocytoma1May 18, 2022
Pierpont syndrome1Nov 12, 2018
Pitt-Hopkins syndrome6Mar 6, 2020
Pitt-Hopkins-like syndrome 22May 4, 2017
Platelet-type bleeding disorder 152Feb 28, 2018
Poirier-Bienvenu neurodevelopmental syndrome1May 18, 2022
Polycystic kidney disease 21Jul 6, 2017
Polycystic kidney disease 46Nov 9, 2021
Polydactyly, postaxial, type A11Jun 10, 2021
Polydactyly, postaxial, type A81Oct 21, 2020
Polyhydramnios1Jul 12, 2023
Pontocerebellar hypoplasia type 42May 18, 2022
Precocious puberty1Jul 11, 2023
Premature birth2Jul 7, 2023
Primary ciliary dyskinesia 34Oct 21, 2020
Primary degenerative dementia of the Alzheimer type, presenile onset10Oct 28, 2019
Prostate cancer, hereditary, 91Sep 26, 2022
Pseudohypoparathyroidism type I A1May 18, 2022
Psoriasiform dermatitis2Jul 7, 2023
Pyruvate dehydrogenase E1-alpha deficiency5Nov 9, 2021
Recessive dystrophic epidermolysis bullosa1Mar 9, 2020
Renal carnitine transport defect3Jul 6, 2017
Renal cysts and diabetes syndrome1Oct 21, 2020
Renal hypodysplasia/aplasia 33Jun 10, 2021
Retrognathia1Jul 7, 2023
Rett syndrome4Sep 9, 2021
Rett syndrome, congenital variant3May 4, 2017
Rubinstein-Taybi syndrome due to CREBBP mutations4Mar 9, 2020
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency2Mar 9, 2020
STING-associated vasculopathy with onset in infancy1Sep 9, 2021
Sacral dimple1Jul 7, 2023
Schaaf-Yang syndrome5May 18, 2022
Schinzel-Giedion syndrome1Jan 8, 2021
Schuurs-Hoeijmakers syndrome1May 4, 2017
Seborrhea-like dermatitis with psoriasiform elements1Nov 28, 2022
See cases105Jan 25, 2024
Seizure16Jul 11, 2023
Seizures, benign familial neonatal, 21Jul 6, 2017
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1Jun 10, 2021
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome2May 4, 2017
Severe myoclonic epilepsy in infancy8Feb 21, 2023
Shallow orbits1Jul 11, 2023
Short 5th metacarpal2Jul 7, 2023
Short stature1Jul 7, 2023
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies1Mar 9, 2020
Short stature, microcephaly, and endocrine dysfunction2May 24, 2019
Short-rib thoracic dysplasia 13 with or without polydactyly2Mar 9, 2020
Sifrim-Hitz-Weiss syndrome2Jul 11, 2023
Single umbilical artery2Jul 7, 2023
Skraban-Deardorff syndrome4Sep 9, 2021
Sleep apnea2Jul 11, 2023
Smith-Lemli-Opitz syndrome4Oct 21, 2020
Spastic paraplegia, intellectual disability, nystagmus, and obesity1Mar 31, 2023
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome2Feb 5, 2018
Spasticity2Jul 7, 2023
Speech apraxia1Jul 7, 2023
Speech delay1Sep 9, 2021
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant1Jun 10, 2021
Spinocerebellar ataxia 471Oct 21, 2020
Spinocerebellar ataxia type 15/162Feb 28, 2018
Spinocerebellar ataxia type 291Mar 9, 2020
Spinocerebellar ataxia type 61Jan 25, 2024
Spondylo-ocular syndrome1Jul 7, 2023
Spondyloepimetaphyseal dysplasia, aggrecan type2Mar 6, 2020
Spondyloepiphyseal dysplasia, Stanescu type3Nov 26, 2019
Stereotypic movement disorder1Sep 2, 2022
Stickler syndrome type 14Aug 16, 2021
Strabismus2Jul 11, 2023
Structural heart defects and renal anomalies syndrome4Aug 17, 2021
Subglottic stenosis1Jul 7, 2023
Sudden cardiac failure, infantile2Nov 26, 2019
Symphalangism-brachydactyly syndrome1Dec 9, 2019
Syndromic X-linked intellectual disability 341May 18, 2022
Syndromic X-linked intellectual disability 942May 4, 2017
Syndromic X-linked intellectual disability Claes-Jensen type1Jul 20, 2017
Syndromic X-linked intellectual disability Najm type1Mar 6, 2020
Syndromic X-linked intellectual disability Raymond type2Sep 2, 2022
Syndromic X-linked intellectual disability Shashi type1Jul 7, 2023
Syndromic X-linked intellectual disability Snyder type1May 18, 2022
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant1Aug 16, 2021
TELO2-related intellectual disability-neurodevelopmental disorder2Jul 6, 2017
Tall stature1May 18, 2022
Tatton-Brown-Rahman overgrowth syndrome2Nov 8, 2017
Tay-Sachs disease4Jul 6, 2017
Tetralogy of Fallot1Oct 21, 2020
Thanatophoric dysplasia, type 21Jun 17, 2020
Thin vermilion border1May 18, 2022
Thrombocythemia 31Nov 28, 2022
Thrombocytopenia2Jul 11, 2023
Townes-Brocks syndrome 12Mar 26, 2021
Tracheomalacia2Jul 7, 2023
Tremor2Jul 11, 2023
Trichohepatoenteric syndrome 12Jul 31, 2019
Trigonocephaly1Jul 11, 2023
Tuberous sclerosis 11Mar 2, 2021
Tuberous sclerosis 21May 18, 2022
Tyrosinase-negative oculocutaneous albinism2Jan 25, 2024
Tyrosinase-positive oculocutaneous albinism2Jul 6, 2017
Ullrich congenital muscular dystrophy 22Jun 17, 2020
Unverricht-Lundborg syndrome1May 4, 2017
Upslanted palpebral fissure1May 18, 2022
Van Maldergem syndrome 12Dec 21, 2017
Van der Woude syndrome 21Sep 9, 2021
Ventricular septal defect3Jul 12, 2023
Ventriculomegaly1Jul 7, 2023
Vertebral fusion2Jul 7, 2023
Vertebral, cardiac, renal, and limb defects syndrome 31Mar 2, 2021
Very long chain acyl-CoA dehydrogenase deficiency1Jun 10, 2021
Waardenburg syndrome type 2E1Sep 15, 2023
Waardenburg syndrome type 4A1Nov 28, 2022
Waardenburg syndrome type 4C1Sep 15, 2023
Wieacker-Wolff syndrome1Mar 9, 2020
Wiedemann-Steiner syndrome2Mar 6, 2020
Wilson disease2Jul 6, 2017
Wolff-Parkinson-White pattern1Mar 17, 2023
X-linked Opitz G/BBB syndrome1Mar 9, 2020
X-linked hydrocephalus syndrome1Dec 9, 2019
X-linked intellectual disability Cabezas type1Nov 8, 2017
X-linked intellectual disability, Cantagrel type1Jun 27, 2016
X-linked intellectual disability, van Esch type1Sep 9, 2021
X-linked intellectual disability-cerebellar hypoplasia syndrome1May 4, 2017
X-linked intellectual disability-psychosis-macroorchidism syndrome1Nov 5, 2020
X-linked intellectual disability-short stature-overweight syndrome1Jan 25, 2024
beta Thalassemia2Jul 6, 2017
disorder of neutrophil chemotaxis1May 18, 2022
not provided81Apr 7, 2023
not specified52Apr 27, 2023