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

General information

HudsonAlpha Institute for Biotechnology, HA
HudsonAlpha Institute for Biotechnology
601 Genome Way
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: 798

Gene

GeneSubmissionsLast Updated
AARS11Jul 30, 2019
ABCA72Oct 28, 2019
ABI31Oct 28, 2019
ACAN2Mar 6, 2020
ACTC11Mar 9, 2020
ACTG11Jul 30, 2019
ACTL6B1Jul 31, 2019
ACTN12Feb 28, 2018
ADA22Nov 5, 2018
ADAM101Oct 28, 2019
ADNP2Mar 9, 2020
AFDN1May 4, 2017
AFF31Jul 6, 2017
AGO41Jun 17, 2020
AGTPBP11Oct 20, 2020
AHDC11May 4, 2017
AHI12May 24, 2019
AKAP61Jul 30, 2019
ALDH18A13Jul 31, 2019
ALG12Mar 1, 2017
ANK22May 24, 2018
ANKRD114May 4, 2017
ANKRD171May 24, 2019
ANOS11May 24, 2019
AP4B12Mar 6, 2020
AP4B1-AS11Mar 6, 2020
APC1Jul 17, 2018
APOB2Mar 9, 2020
APP2Oct 28, 2019
ARF11Aug 6, 2019
ARF61Aug 6, 2019
ARFGEF11Jul 30, 2019
ARID1A1Mar 9, 2020
ARID1B4Jul 30, 2018
ARID21May 4, 2017
ARSA1Oct 28, 2019
ARX3Dec 21, 2017
ASPM2Dec 21, 2017
ASXL11Mar 9, 2020
ASXL32May 4, 2017
ATP7A1Feb 28, 2018
ATP7B2Jul 6, 2017
ATPAF21Mar 9, 2020
ATRX3Jul 30, 2019
AUTS21May 4, 2017
BARD13Aug 1, 2019
BAZ2B1Mar 3, 2016
BCL2L2-PABPN11May 24, 2019
BICD21May 4, 2017
BMP21Mar 9, 2020
BMPR1B1Mar 9, 2020
BPTF2Mar 6, 2020
BRAF1Jul 17, 2018
BRCA110Oct 26, 2020
BRCA215Mar 6, 2020
BRPF12Mar 9, 2020
BRSK24Apr 15, 2019
C2CD32Mar 9, 2020
CACNA1A4Mar 9, 2020
CACNA1E2Aug 1, 2019
CAMTA11May 24, 2019
CAPN32Jul 17, 2018
CARM11Jan 8, 2021
CASK1Mar 6, 2020
CBL2Mar 6, 2020
CDK131May 4, 2017
CDKL51Dec 11, 2017
CELSR11Mar 6, 2020
CEP1202Mar 9, 2020
CFTR8May 24, 2018
CFTR-AS11Jul 6, 2017
CHAT2Mar 9, 2020
CHD22May 4, 2017
CHD31Nov 8, 2017
CHD41Mar 6, 2020
CHD79Oct 21, 2020
CHEK21May 24, 2018
CIZ11Mar 3, 2016
CLCN12Mar 6, 2020
CLCNKB2Mar 9, 2020
CLPB2May 4, 2017
CLTC1Jul 31, 2019
CNOT11Jul 30, 2019
CNTNAP12Nov 5, 2020
COASY2May 24, 2019
COL12A12Jun 17, 2020
COL1A11Mar 9, 2020
COL2A12Mar 9, 2020
COL4A11Oct 21, 2020
COL6A31Nov 12, 2018
COL7A11Mar 9, 2020
COL9A32Mar 9, 2020
CREBBP5Mar 9, 2020
CRELD11Nov 5, 2020
CSF1R1Oct 28, 2019
CSMD11May 4, 2017
CSNK1E1Jun 17, 2020
CSNK2B1Aug 6, 2019
CSTB1May 4, 2017
CTNND22Jul 6, 2017
CTR91May 4, 2017
CTSA1Nov 8, 2017
CUL4B1Nov 8, 2017
CYFIP21Jul 31, 2019
CYP11A11Mar 9, 2020
DCHS12Dec 21, 2017
DDX3X2May 4, 2017
DDX411Jul 6, 2017
DEAF11Feb 6, 2017
DENND5A2Feb 6, 2017
DHCR242Mar 9, 2020
DHCR74Oct 21, 2020
DHX301Dec 21, 2017
DHX401Oct 20, 2020
DLG31May 4, 2017
DLL41Jun 17, 2020
DNAH54Oct 21, 2020
DNAJC281May 4, 2017
DNHD12Nov 26, 2019
DNM11Mar 3, 2016
DNMT3A2Nov 8, 2017
DSG22Jul 6, 2017
DSG2-AS12Jul 6, 2017
DUSP291Jun 17, 2020
DYNC1H12Dec 9, 2019
DYRK1A2May 4, 2017
EBF33Mar 6, 2020
EFNB11Jun 17, 2020
EFTUD21Mar 9, 2020
EHMT12May 4, 2017
EP3002Mar 9, 2020
ERCC22Oct 21, 2020
EVC2Mar 9, 2020
EZH11Mar 6, 2020
FAM111A1Oct 21, 2020
FBLN51Nov 12, 2018
FBN12May 24, 2019
FBXO111Aug 6, 2019
FER1Mar 6, 2020
FGF121May 4, 2017
FGFR21Nov 26, 2019
FGFR31Jun 17, 2020
FLCN1Oct 20, 2020
FLNA1Oct 21, 2020
FOXC11Jan 8, 2021
FOXG13May 4, 2017
FOXP41Mar 9, 2020
FUCA11Jul 30, 2019
FYCO12Jul 6, 2017
GAA2Jun 17, 2020
GABRA11Mar 3, 2016
GATA61Mar 9, 2020
GH-LCR1Jul 6, 2017
GJB21May 4, 2017
GLA2Aug 2, 2019
GLB12May 4, 2017
GLDN1Jan 8, 2021
GLI11Oct 21, 2020
GLI32Jul 30, 2019
GMPPB2May 4, 2017
GNAO11May 24, 2018
GREB1L1Oct 21, 2020
GRIA32May 4, 2017
GRID2IP1Oct 28, 2019
GRIK42Mar 3, 2016
GRIN11Mar 6, 2020
GRIN2A1May 4, 2017
GRIN2B3Jul 20, 2017
GRIN2D1Jul 30, 2019
GRIPAP11May 24, 2018
H3-3A1May 24, 2019
HARS11Mar 1, 2017
HBB3May 24, 2018
HCFC12May 4, 2017
HDAC82May 4, 2017
HECTD41Nov 8, 2017
HEXA4Jul 6, 2017
HNF1B1Oct 21, 2020
HNF4A1Mar 9, 2020
HNRNPK2Mar 9, 2020
HNRNPU1May 4, 2017
HNRNPUL21Mar 9, 2020
HNRNPUL2-BSCL21Mar 9, 2020
HUWE12May 24, 2019
IARS12Mar 6, 2020
IFIH11May 24, 2019
IGF1R1Oct 20, 2020
IGHMBP21Oct 21, 2020
INVS2May 24, 2019
IQGAP11May 4, 2017
IQSEC22Mar 6, 2020
IRAK1BP11Dec 11, 2017
ITPR13Mar 9, 2020
JAG11Jan 8, 2021
JMJD1C1May 4, 2017
KAT2B1May 24, 2018
KAT6B1Jun 17, 2020
KCNH21Aug 2, 2019
KCNK41Oct 21, 2020
KCNK4-TEX401Oct 21, 2020
KCNMA11Aug 3, 2018
KCNMA1-AS11Aug 3, 2018
KCNQ18Mar 6, 2020
KCNQ23May 24, 2019
KCNQ31Jul 6, 2017
KCNT12May 24, 2018
KDM1A1May 24, 2018
KDM5B2Aug 3, 2018
KDM5C1Jul 20, 2017
KDM6A1Jul 31, 2019
KIAA11092Oct 21, 2020
KIDINS2201Jul 31, 2019
KIF1A2May 4, 2017
KLHL151Mar 6, 2020
KLHL402Mar 9, 2020
KMT2A2Mar 6, 2020
KMT2C1Jul 30, 2018
KMT2D5Oct 21, 2020
KMT5B1May 4, 2017
KRIT11May 24, 2019
L1CAM1Dec 9, 2019
LAMA21May 4, 2017
LDLR5Apr 7, 2020
LOC1002895802Nov 26, 2019
LOC1019281741Mar 9, 2020
LOC1019290891Mar 6, 2020
LOC1019292081Mar 3, 2016
LOC1027240584Apr 4, 2019
LOC1060990623May 24, 2018
LOC1065017131Mar 9, 2020
LOC1071335103May 24, 2018
LOC1116744752May 24, 2018
LZTR11Oct 21, 2020
MACF11Dec 21, 2017
MAGEL22May 4, 2017
MAP3K72Jun 17, 2020
MAPK8IP31May 24, 2018
MAPT1Oct 28, 2019
MARK22Oct 21, 2020
MAST12May 24, 2019
MC4R1Jul 6, 2017
MEA11Mar 3, 2016
MECP24Nov 5, 2020
MED121Nov 12, 2018
MED12L1Nov 8, 2017
MED131Apr 15, 2019
MED13L3May 24, 2018
MEF2C1Mar 3, 2016
MFF1May 24, 2018
MFN21Jul 6, 2017
MID11Mar 9, 2020
MID21Mar 3, 2016
MLH13Dec 9, 2019
MME3Oct 28, 2019
MMP21May 24, 2019
MMUT3Mar 9, 2020
MPDZ2Jun 17, 2020
MSC-AS11Jul 30, 2019
MSH22Aug 2, 2019
MSH63Mar 9, 2020
MTOR5May 4, 2017
MTOR-AS12May 4, 2017
MUTYH7Apr 7, 2020
MYBPC38Apr 7, 2020
MYH62Mar 9, 2020
MYH77Oct 21, 2020
MYOD11Jun 17, 2020
MYRF3Jun 17, 2020
MYT1L1May 4, 2017
NAA152Jul 17, 2018
NALCN1May 4, 2017
NBEA2Apr 4, 2019
NDP1May 4, 2017
NDP-AS11May 4, 2017
NEB2May 24, 2019
NET11Mar 3, 2016
NEXMIF1Jun 27, 2016
NF12Jul 17, 2018
NKX2-51Oct 21, 2020
NOG1Dec 9, 2019
NOTCH22Mar 9, 2020
NRXN12May 4, 2017
NTRK21Feb 5, 2018
OCA22Jul 6, 2017
OCRL1May 24, 2019
OPHN11May 4, 2017
PABPN11May 24, 2019
PACS11May 4, 2017
PAK31Jul 30, 2019
PALB21Mar 9, 2020
PAX51Feb 28, 2018
PAX61Jul 30, 2018
PCNX22May 4, 2017
PDHA13Jun 17, 2020
PEX261Mar 9, 2020
PHF61May 4, 2017
PHIP2Mar 6, 2020
PIAS31Nov 26, 2019
PIEZO12Nov 26, 2019
PIGA1Mar 1, 2017
PIGN1Oct 21, 2020
PIGO2Mar 9, 2020
PKD21Jul 6, 2017
PKHD12Oct 21, 2020
PKP28Jan 8, 2021
PLCD11Oct 28, 2019
PLEC2May 4, 2017
PMM24Mar 9, 2020
PMS24Aug 2, 2019
POGZ1Jul 6, 2017
POLR2A1Jul 31, 2019
POMT12Oct 21, 2020
PPA22Nov 26, 2019
PPP2R1A1Mar 9, 2020
PPP2R5D1Mar 3, 2016
PREX22May 4, 2017
PRF11May 24, 2019
PRKAG21Jul 6, 2017
PRRT21Nov 26, 2019
PSEN11Oct 28, 2019
PTBP11Mar 6, 2020
PTEN2Dec 9, 2019
PTPN119Jan 8, 2021
PTPRU1Jul 31, 2019
PUF602May 24, 2018
PUM11Oct 21, 2020
PURA2Apr 7, 2020
RAC11May 24, 2019
RAF11Mar 9, 2020
RALA2Apr 4, 2019
RASGRF12May 24, 2018
RERE1May 24, 2018
RET4Dec 9, 2019
RFXANK1Mar 9, 2020
RHOA1Nov 26, 2019
RINT11Oct 26, 2020
RIT11May 4, 2017
RNF131Jun 17, 2020
ROCK21May 4, 2017
RORB1May 24, 2019
RPH3A1May 4, 2017
RPL36A-HNRNPH22Aug 2, 2019
RRP82Nov 26, 2019
RUFY31May 4, 2017
RYR16Oct 26, 2020
SALL11Oct 21, 2020
SALL41Dec 9, 2019
SAMD91Jun 17, 2020
SATB22May 20, 2016
SCN1A5Apr 4, 2019
SCN2A4Jun 17, 2020
SCN4A1Jul 6, 2017
SCN5A3Aug 2, 2019
SCN8A4Mar 6, 2020
SDHA1Dec 21, 2017
SDHB1Aug 2, 2019
SETBP11Jan 8, 2021
SETD51May 4, 2017
SF3B11Oct 21, 2020
SGTA1Mar 9, 2020
SHANK21May 4, 2017
SHANK32Mar 6, 2020
SHH1Mar 9, 2020
SHOC21Mar 3, 2016
SLC1A42Feb 5, 2018
SLC22A53Jul 6, 2017
SLC25A12Mar 9, 2020
SLC26A42May 24, 2019
SLC2A16Jan 8, 2021
SLC4A11Jul 6, 2017
SLC6A11Mar 3, 2016
SMARCA22May 4, 2017
SMARCA42Oct 21, 2020
SMC1A2Jun 17, 2020
SMC31Mar 3, 2016
SNX142May 4, 2017
SOGA31Jul 30, 2019
SORL11Oct 28, 2019
SOX51May 24, 2018
SPG114Nov 12, 2018
SPR2Mar 6, 2020
SRCAP1May 24, 2019
SSTR51May 24, 2019
STXBP11Dec 21, 2017
SUZ121Jul 31, 2019
SYNGAP12Mar 3, 2016
SYNJ21May 4, 2017
SYT11Aug 3, 2017
TAPT11Mar 9, 2020
TBCD1Oct 21, 2020
TBL1XR11Nov 12, 2018
TBR11May 4, 2017
TBX51Mar 9, 2020
TCF201May 4, 2017
TCF46Mar 6, 2020
TCF4-AS11Mar 6, 2020
TELO22Jul 6, 2017
TFAP2A2Oct 21, 2020
TFAP2A-AS22Oct 21, 2020
TGDS1Oct 21, 2020
TK21Oct 21, 2020
TLK21Mar 6, 2020
TM2D31Oct 28, 2019
TMCO11Mar 9, 2020
TMEM132D1May 24, 2019
TMEM2602Mar 9, 2020
TNK11Oct 28, 2019
TOR1A2Jun 17, 2020
TP632Mar 9, 2020
TPM31Mar 9, 2020
TPP12Mar 3, 2016
TPTEP2-CSNK1E1Jun 17, 2020
TRAF71Mar 9, 2020
TRAPPC92Jul 30, 2018
TRIO1May 4, 2017
TRPA11Jul 30, 2019
TTC192Oct 21, 2020
TTC31Oct 28, 2019
TTC372Jul 31, 2019
TTC7A2Mar 9, 2020
TTPA1May 4, 2017
TUBB1May 4, 2017
TUBB2B1Nov 8, 2017
U2AF21Oct 21, 2020
UBE3B2Nov 26, 2019
ULK43Aug 9, 2016
UNC501Oct 26, 2020
UNC802May 4, 2017
USP111Oct 21, 2020
USP9X1Jun 17, 2020
VPS13C2Oct 28, 2019
WARS22May 4, 2017
WDFY32Jul 6, 2017
WDR263Jul 30, 2019
WDR441May 24, 2019
WDR452May 4, 2017
XRCC42May 24, 2019
YWHAZ1Dec 11, 2017
ZBTB182May 24, 2018
ZC4H21Mar 9, 2020
ZDHHC91Mar 3, 2016
ZEB23May 24, 2018
ZMIZ12Apr 15, 2019
ZMYM22Oct 21, 2020
ZMYM31May 24, 2019
ZMYND111May 4, 2017
ZNF2921May 24, 2019
ZNF4621Mar 3, 2016
ZNF5361Oct 20, 2020

Condition

NameSubmissionsLast Updated
22q13.3 deletion syndrome2Mar 6, 2020
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia2May 4, 2017
ALG1-CDG2Mar 1, 2017
AU-KLINE SYNDROME2Mar 9, 2020
Acrocephalosyndactyly type I1Nov 26, 2019
Acromesomelic dysplasia, Demirhan type1Mar 9, 2020
Adams-Oliver syndrome 61Jun 17, 2020
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete1Mar 9, 2020
Age-related macular degeneration 31Nov 12, 2018
Aicardi-Goutieres syndrome 71May 24, 2019
Alagille syndrome 11Jan 8, 2021
Alkuraya-Kucinskas syndrome2Oct 21, 2020
Aniridia 11Jul 30, 2018
Anterior segment dysgenesis 31Jan 8, 2021
Arrhythmogenic right ventricular dysplasia 98Jan 8, 2021
Atrial septal defect 32Mar 9, 2020
Atrioventricular septal defect 21Nov 5, 2020
Atrophia bulborum hereditaria1May 4, 2017
Autism 171May 4, 2017
Axenfeld-Rieger syndrome type 31Jan 8, 2021
Bainbridge-Ropers syndrome2May 4, 2017
Baraitser-Winter Syndrome 21Jul 30, 2019
Bare lymphocyte syndrome 21Mar 9, 2020
Bartter syndrome type 32Mar 9, 2020
Benign familial neonatal seizures 21Jul 6, 2017
Bethlem myopathy 11Nov 12, 2018
Blepharophimosis - intellectual disability syndrome, SBBYS type1Jun 17, 2020
Bohring-Opitz syndrome1Mar 9, 2020
Borjeson-Forssman-Lehmann syndrome1May 4, 2017
Brain small vessel disease 1 with or without ocular anomalies1Oct 21, 2020
Branchiooculofacial syndrome2Oct 21, 2020
Breast-ovarian cancer, familial 110Oct 26, 2020
Breast-ovarian cancer, familial 215Mar 6, 2020
CHARGE association9Mar 9, 2020
Cardiac arrhythmia, ankyrin B-related1Jul 6, 2017
Cardiac, facial, and digital anomalies with developmental delay1Mar 9, 2020
Cardiac-urogenital syndrome2Jun 17, 2020
Cardiofaciocutaneous syndrome 11Jul 17, 2018
Cardiospondylocarpofacial syndrome2Jun 17, 2020
Cataract 182Jul 6, 2017
Catel Manzke syndrome1Oct 21, 2020
Central core myopathy1Nov 8, 2017
Cerebellar ataxia, nonprogressive, with mental retardation1May 24, 2019
Cerebral cavernous malformation1May 24, 2019
Cerebrooculofacioskeletal syndrome 22Oct 21, 2020
Ceroid lipofuscinosis neuronal 22Mar 3, 2016
Charcot-Marie-Tooth disease, axonal type 2X2May 20, 2016
Charcot-Marie-Tooth disease, axonal, type 2T2May 4, 2017
Charcot-Marie-Tooth disease, axonal, type 2w1Mar 1, 2017
Charcot-Marie-Tooth disease, type 2A2A1Jul 6, 2017
Charcot-Marie-Tooth disease, type 2N1Jul 30, 2019
Chromosome 2q32-q33 deletion syndrome2May 20, 2016
Ciliary dyskinesia, primary, 34Oct 21, 2020
Cleft palate, psychomotor retardation, and distinctive facial features1May 24, 2018
Coffin-Siris syndrome 14Jul 30, 2018
Combined d-2- and l-2-hydroxyglutaric aciduria2Mar 9, 2020
Combined deficiency of sialidase AND beta galactosidase1Nov 8, 2017
Congenital contractures of the limbs and face, hypotonia, and developmental delay1May 4, 2017
Congenital disorder of glycosylation, type Ia4Mar 9, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1May 4, 2017
Congenital muscular hypertrophy-cerebral syndrome2Jun 17, 2020
Congenital myotonia, autosomal dominant form2Mar 6, 2020
Cornelia de Lange syndrome 31Mar 3, 2016
Cornelia de Lange syndrome 52May 4, 2017
Cortical dysplasia, complex, with other brain malformations 61May 4, 2017
Corticobasal syndrome2Oct 28, 2019
Cowden syndrome 11Dec 9, 2019
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome1Mar 9, 2020
Craniofrontonasal syndrome1Jun 17, 2020
Cystic fibrosis8May 24, 2018
Deafness, autosomal recessive 1A1May 4, 2017
Dent disease type 21May 24, 2019
Desmosterolosis2Mar 9, 2020
Developmental and epileptic encephalopathy, 581Feb 5, 2018
Developmental and epileptic encephalopathy, 651Jul 31, 2019
Developmental and epileptic encephalopathy, 691Aug 1, 2019
Developmental delay, intellectual disability, obesity, and dysmorphic features1Mar 6, 2020
Dilated cardiomyopathy 1BB2Jul 6, 2017
Dilated cardiomyopathy 1R1Mar 9, 2020
Dopa-responsive dystonia due to sepiapterin reductase deficiency2Mar 6, 2020
Duane-radial ray syndrome1Dec 9, 2019
Dystonia 11May 24, 2018
Early infantile epileptic encephalopathy 114Jun 17, 2020
Early infantile epileptic encephalopathy 134Mar 6, 2020
Early infantile epileptic encephalopathy 142May 24, 2018
Early infantile epileptic encephalopathy 21Dec 11, 2017
Early infantile epileptic encephalopathy 41Dec 21, 2017
Early infantile epileptic encephalopathy 73May 24, 2019
Early-onset Alzheimer's disease10Oct 28, 2019
Early-onset dementia of unclear type5Oct 28, 2019
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 32Mar 9, 2020
Ellis-van Creveld syndrome2Mar 9, 2020
Encephalopathy due to defective mitochondrial and peroxisomal fission 21May 24, 2018
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum1Oct 21, 2020
Epilepsy, focal, with speech disorder and with or without mental retardation1May 4, 2017
Epilepsy, idiopathic generalized, susceptibility to, 151May 24, 2019
Epileptic encephalopathy, childhood-onset2May 4, 2017
Epileptic encephalopathy, early infantile, 12Dec 21, 2017
Epileptic encephalopathy, early infantile, 191Mar 3, 2016
Epileptic encephalopathy, early infantile, 272Jul 20, 2017
Epileptic encephalopathy, early infantile, 311Mar 3, 2016
Epileptic encephalopathy, early infantile, 421Mar 1, 2018
Epileptic encephalopathy, early infantile, 461Jul 30, 2019
Epileptic encephalopathy, early infantile, 471May 4, 2017
Epileptic encephalopathy, early infantile, 492Feb 6, 2017
Epileptic encephalopathy, early infantile, 541May 4, 2017
Epiphyseal dysplasia, multiple, 32Mar 9, 2020
Episodic ataxia type 23Mar 9, 2020
FG syndrome 11Nov 12, 2018
Fabry disease2Aug 2, 2019
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome1Oct 21, 2020
Familial adenomatous polyposis 11Jul 17, 2018
Familial cancer of breast4Aug 1, 2019
Familial episodic pain syndrome 11Jul 30, 2019
Familial hemophagocytic lymphohistiocytosis 21May 24, 2019
Familial hypercholesterolemia 15Apr 7, 2020
Familial hypercholesterolemia 21Mar 9, 2020
Familial hypertrophic cardiomyopathy 17Oct 21, 2020
Familial hypertrophic cardiomyopathy 48Apr 7, 2020
Familial infantile myasthenia2Mar 9, 2020
Familial isolated deficiency of vitamin E1May 4, 2017
Familial medullary thyroid carcinoma3Dec 9, 2019
Fanconi anemia, complementation group N1Mar 9, 2020
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1Mar 9, 2020
Floating-Harbor syndrome1May 24, 2019
Frontotemporal dementia7Oct 28, 2019
Fucosidosis1Jul 30, 2019
GLUT1 deficiency syndrome 13Jan 8, 2021
GLUT1 deficiency syndrome 23Mar 6, 2020
GM1 gangliosidosis type 22May 4, 2017
Genitopatellar syndrome1Jun 17, 2020
Glycogen storage disease, type II2Jun 17, 2020
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
Helsmoortel-Van der Aa Syndrome2Mar 9, 2020
Hereditary nonpolyposis colorectal cancer type 44Aug 2, 2019
Hereditary nonpolyposis colorectal cancer type 53Mar 9, 2020
Hereditary spastic paraplegia 9A1Feb 28, 2018
Holoprosencephaly 31Mar 9, 2020
Holt-Oram syndrome1Mar 9, 2020
Hydrocephalus, congenital, 2, with or without brain or eye anomalies2Jun 17, 2020
Hyperphosphatasia with mental retardation syndrome 22Mar 9, 2020
Hypobetalipoproteinemia, familial, 11Dec 9, 2019
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1May 24, 2019
Hypotonia, ataxia, and delayed development syndrome2Mar 6, 2020
Hypotonia, infantile, with psychomotor retardation and characteristic facies 22May 4, 2017
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 abnormalities1Aug 6, 2019
Intellectual developmental disorder with dysmorphic facies and ptosis2Mar 9, 2020
Intellectual developmental disorder with severe speech and ambulation defects1Jul 31, 2019
Intellectual disability (severe)1Jun 27, 2016
Intellectual disability, autosomal dominant 481May 24, 2019
Intellectual disability, autosomal dominant 502Jul 17, 2018
Intellectual disability, autosomal dominant 561Jul 31, 2019
Intellectual disability, autosomal dominant 92May 4, 2017
Intellectual disability, moderate3Aug 9, 2016
Intellectual disability-developmental delay-contractures syndrome1Mar 9, 2020
Joubert syndrome 32May 24, 2019
KBG syndrome4May 4, 2017
Kabuki syndrome 15Oct 21, 2020
Kabuki syndrome 21Jul 31, 2019
Kaufman oculocerebrofacial syndrome2Nov 26, 2019
Kleefstra syndrome 12May 4, 2017
Kleefstra syndrome 21Jul 30, 2018
Lamb-shaffer syndrome1May 24, 2018
Lethal congenital contracture syndrome 111Jan 8, 2021
Lethal congenital contracture syndrome 72Nov 5, 2020
Leukemia, acute lymphoblastic, susceptibility to, 31Feb 28, 2018
Limb-girdle muscular dystrophy, type 2A2Jul 17, 2018
Limb-girdle muscular dystrophy, type 2Q2May 4, 2017
Limb-girdle muscular dystrophy-dystroglycanopathy, type C12Oct 21, 2020
Long QT syndrome 18Mar 6, 2020
Long QT syndrome 21Aug 2, 2019
Long QT syndrome 33Aug 2, 2019
Lymphedema, hereditary, III2Nov 26, 2019
Lynch syndrome I2Aug 2, 2019
Lynch syndrome II3Dec 9, 2019
MYH-associated polyposis7Apr 7, 2020
Macrocephaly/autism syndrome1Aug 3, 2017
Malignant hyperthermia, susceptibility to, 15Oct 26, 2020
Mandibulofacial dysostosis-microcephaly syndrome1Mar 9, 2020
Marfan syndrome2May 24, 2019
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1May 24, 2019
Melnick-Needles syndrome1Oct 21, 2020
Menke-Hennekam syndrome 11Mar 6, 2020
Menkes kinky-hair syndrome1Feb 28, 2018
Mental retardation 3, X-linked2May 4, 2017
Mental retardation 30, X-linked1Jul 30, 2019
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance1May 4, 2017
Mental retardation and distinctive facial features with or without cardiac defects3May 24, 2018
Mental retardation and microcephaly with pontine and cerebellar hypoplasia1Mar 6, 2020
Mental retardation, X-linked 11Jul 30, 2019
Mental retardation, X-linked 1011Mar 3, 2016
Mental retardation, X-linked 1022May 4, 2017
Mental retardation, X-linked 1031Mar 6, 2020
Mental retardation, X-linked 981Jun 27, 2016
Mental retardation, X-linked 99, syndromic, female-restricted1Jun 17, 2020
Mental retardation, X-linked, syndromic 131Nov 5, 2020
Mental retardation, X-linked, syndromic, Raymond type1Mar 3, 2016
Mental retardation, X-linked, syndromic, wu type2May 4, 2017
Mental retardation, autosomal dominant 131May 4, 2017
Mental retardation, autosomal dominant 141Mar 9, 2020
Mental retardation, autosomal dominant 162Oct 21, 2020
Mental retardation, autosomal dominant 222May 24, 2018
Mental retardation, autosomal dominant 231May 4, 2017
Mental retardation, autosomal dominant 241Feb 6, 2017
Mental retardation, autosomal dominant 261May 4, 2017
Mental retardation, autosomal dominant 301May 4, 2017
Mental retardation, autosomal dominant 312Apr 7, 2020
Mental retardation, autosomal dominant 351Mar 3, 2016
Mental retardation, autosomal dominant 361Mar 9, 2020
Mental retardation, autosomal dominant 391May 4, 2017
Mental retardation, autosomal dominant 441May 4, 2017
Mental retardation, autosomal dominant 52Mar 3, 2016
Mental retardation, autosomal dominant 571Mar 6, 2020
Mental retardation, autosomal dominant 62Jul 20, 2017
Mental retardation, autosomal dominant 72May 4, 2017
Mental retardation, autosomal recessive 132Jul 30, 2018
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1Mar 3, 2016
Mental retardation, syndromic, Claes-Jensen type, X-linked1Jul 20, 2017
Mental retardation, with or without seizures, ARX-related, X-linked1Dec 21, 2017
Merosin deficient congenital muscular dystrophy1May 4, 2017
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency3Mar 9, 2020
Mirage syndrome1Jun 17, 2020
Mitochondrial DNA depletion syndrome 21Oct 21, 2020
Mitochondrial complex III deficiency, nuclear type 22Oct 21, 2020
Mowat-Wilson syndrome3May 24, 2018
Multicentric osteolysis, nodulosis and arthropathy1May 24, 2019
Multiple congenital anomalies-hypotonia-seizures syndrome 11Oct 21, 2020
Multiple congenital anomalies-hypotonia-seizures syndrome 21Mar 1, 2017
Multiple endocrine neoplasia, type 2a1Aug 2, 2019
Multiple gastrointestinal atresias2Mar 9, 2020
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 142May 4, 2017
Muscular hypotonia1Jun 27, 2016
Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to1Jul 6, 2017
Myoclonic-atonic epilepsy1Mar 3, 2016
Nemaline myopathy 11Mar 9, 2020
Nemaline myopathy 22May 24, 2019
Nemaline myopathy 82Mar 9, 2020
Neurodegeneration with brain iron accumulation 52May 4, 2017
Neurodegeneration with brain iron accumulation 62May 24, 2019
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies2Mar 6, 2020
Neurodevelopmental disorder with involuntary movements1May 24, 2018
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart1May 24, 2018
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant1Mar 6, 2020
Neurofibromatosis, type 12Jul 17, 2018
Nicolaides-Baraitser syndrome2May 4, 2017
Noonan syndrome 19Jan 8, 2021
Noonan syndrome 101Oct 21, 2020
Noonan syndrome 51Mar 9, 2020
Noonan syndrome 81May 4, 2017
Noonan syndrome-like disorder with loose anagen hair 11Mar 3, 2016
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia2Mar 6, 2020
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 11Mar 9, 2020
Obesity1Jul 6, 2017
Oculopharyngeal muscular dystrophy1May 24, 2019
Opitz GBBB syndrome, type I1Mar 9, 2020
Orofaciodigital syndrome xiv2Mar 9, 2020
Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type1Mar 9, 2020
Osteocraniostenosis1Oct 21, 2020
Osteogenesis imperfecta type III1Mar 9, 2020
Pancreatic agenesis and congenital heart disease1Mar 9, 2020
Paragangliomas 41Aug 2, 2019
Paragangliomas 51Dec 21, 2017
Paramyotonia congenita of von Eulenburg1Jul 6, 2017
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy1Aug 3, 2018
Pendred syndrome2May 24, 2019
Periventricular nodular heterotopia 81Aug 6, 2019
Peroxisome biogenesis disorder 7A1Mar 9, 2020
Pierpont syndrome1Nov 12, 2018
Pitt-Hopkins syndrome6Mar 6, 2020
Pitt-Hopkins-like syndrome 22May 4, 2017
Platelet-type bleeding disorder 152Feb 28, 2018
Polycystic kidney disease 21Jul 6, 2017
Polycystic kidney disease 42Oct 21, 2020
Polydactyly, postaxial, type A81Oct 21, 2020
Polymicrogyria, asymmetric1Nov 8, 2017
Primary autosomal recessive microcephaly 52Dec 21, 2017
Pyruvate dehydrogenase E1-alpha deficiency3Jun 17, 2020
Recessive dystrophic epidermolysis bullosa1Mar 9, 2020
Renal carnitine transport defect3Jul 6, 2017
Renal cysts and diabetes syndrome1Oct 21, 2020
Renal hypodysplasia/aplasia 31Oct 21, 2020
Rett syndrome3May 4, 2017
Rett syndrome, congenital variant3May 4, 2017
Rubinstein-Taybi syndrome 14Mar 9, 2020
Rubinstein-Taybi syndrome 22Mar 9, 2020
Schaaf-Yang syndrome2May 4, 2017
Schinzel-Giedion syndrome1Jan 8, 2021
Schuurs-hoeijmakers syndrome1May 4, 2017
See cases48Nov 5, 2020
Severe myoclonic epilepsy in infancy5Apr 4, 2019
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 syndrome1Mar 6, 2020
Skraban-Deardorff syndrome3Jul 30, 2019
Smith-Kingsmore syndrome5May 4, 2017
Smith-Lemli-Opitz syndrome4Oct 21, 2020
Spastic paraplegia 11, autosomal recessive2Nov 12, 2018
Spastic paraplegia 47, autosomal recessive2Mar 6, 2020
Spastic paraplegia, intellectual disability, nystagmus, and obesity1Jul 31, 2019
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly2Feb 5, 2018
Spherocytosis type 41Jul 6, 2017
Spinal muscular atrophy, distal, autosomal recessive, 11Oct 21, 2020
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant1Dec 9, 2019
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant1May 4, 2017
Spinocerebellar ataxia 471Oct 21, 2020
Spinocerebellar ataxia type 162Feb 28, 2018
Spinocerebellar ataxia type 291Mar 9, 2020
Spinocerebellar ataxia, autosomal recessive 202May 4, 2017
Spondyloepimetaphyseal dysplasia, aggrecan type2Mar 6, 2020
Spondyloepiphyseal dysplasia, stanescu type3Nov 26, 2019
Stickler syndrome type 11Mar 9, 2020
Structural heart defects and renal anomalies syndrome2Mar 9, 2020
Sudden cardiac failure, infantile2Nov 26, 2019
Symphalangism-brachydactyly syndrome1Dec 9, 2019
Syndromic X-linked intellectual disability Turner type2May 24, 2019
Syndromic X-linked mental retardation, Cabezas type1Nov 8, 2017
Tatton-Brown-rahman syndrome2Nov 8, 2017
Tay-Sachs disease4Jul 6, 2017
Tetralogy of Fallot1Oct 21, 2020
Thanatophoric dysplasia, type 21Jun 17, 2020
Townes-Brocks syndrome 11Oct 21, 2020
Trichohepatoenteric syndrome 12Jul 31, 2019
Tyrosinase-positive oculocutaneous albinism2Jul 6, 2017
Ullrich congenital muscular dystrophy 22Jun 17, 2020
Unverricht-Lundborg syndrome1May 4, 2017
Van Maldergem syndrome 12Dec 21, 2017
Verheij syndrome2May 24, 2018
White-sutton syndrome1Jul 6, 2017
Wiedemann-Steiner syndrome2Mar 6, 2020
Wilson disease2Jul 6, 2017
Wolff-Parkinson-White pattern1Jul 6, 2017
X-Linked mental retardation 901May 4, 2017
X-linked hydrocephalus syndrome1Dec 9, 2019
X-linked intellectual disability-hypotonic face syndrome3Jul 30, 2019
Xia-Gibbs syndrome1May 4, 2017
You-Hoover-Fong syndrome2Jul 6, 2017
beta Thalassemia2Jul 6, 2017
not provided77Jan 8, 2021
not specified36Apr 15, 2019
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