U.S. flag

An official website of the United States government

Neuberg Supratech Reference Laboratories Pvt Ltd (Neuberg Centre for Genomic Medicine), NCGM

General information

Neuberg Supratech Reference Laboratories Pvt Ltd, NCGM
Neuberg Centre for Genomic Medicine
Kedar Building, Opposite Krupa Petrol Pump, Parimal Garden
Ahmedabad
Gujarat
India - 380006
https://supratechlabs.com/
Organization ID: 508108

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 513

Gene

GeneSubmissionsLast Updated
ABCA71Feb 2, 2022
ABCB112Feb 2, 2022
ABCC83Feb 2, 2022
ABCC91Feb 2, 2022
ABCD11Feb 2, 2022
ABCG51Feb 2, 2022
ACAN1Feb 2, 2022
ACVR11Feb 2, 2022
ADA1Feb 2, 2022
ADA21Feb 2, 2022
ADAR1Feb 2, 2022
ADCY51Feb 2, 2022
ADGRG11Feb 2, 2022
AGL2Feb 2, 2022
AGRN2Feb 2, 2022
AGXT1Feb 2, 2022
AHI11Feb 2, 2022
AIRE1Jun 2, 2021
ALG131Feb 2, 2022
ALG31Feb 2, 2022
ALG81Feb 2, 2022
ALPL1Feb 2, 2022
ANK11Feb 2, 2022
ANLN1Feb 2, 2022
AP5Z12Feb 2, 2022
APC2Feb 2, 2022
AR2Feb 2, 2022
ARFGEF11Feb 2, 2022
ARG11Feb 2, 2022
ARHGAP311Feb 2, 2022
ARSA2Feb 2, 2022
ARX1Feb 2, 2022
ASPA1Feb 2, 2022
ATM4Feb 2, 2022
ATP13A22Feb 2, 2022
ATP1A11Feb 2, 2022
ATP1A1-AS11Feb 2, 2022
ATP6AP11Feb 2, 2022
ATP6V1B11Feb 2, 2022
ATP7B6Feb 2, 2022
ATP8A21Feb 2, 2022
ATRX1Feb 2, 2022
BARD11Feb 2, 2022
BBS22Feb 2, 2022
BICD21Feb 2, 2022
BRCA11Feb 2, 2022
BRCA21Feb 2, 2022
BRIP11Feb 2, 2022
BTD2Feb 2, 2022
C11orf653Feb 2, 2022
CACNA1A4Feb 2, 2022
CAPN31Feb 2, 2022
CASK1Feb 2, 2022
CD1511Feb 2, 2022
CD361Feb 2, 2022
CDK131Feb 2, 2022
CDKL52Feb 2, 2022
CEP2901Feb 2, 2022
CFAP441Feb 2, 2022
CFAP44-AS11Feb 2, 2022
CFTR5Feb 2, 2022
CHCHD101Feb 2, 2022
CHD21Feb 2, 2022
CHD71Feb 2, 2022
CHPT11Feb 2, 2022
CHRNA41Feb 2, 2022
CIZ11Feb 2, 2022
CLCN12Feb 2, 2022
CLCN41Feb 2, 2022
CLCN71Feb 2, 2022
CLCNKB1Feb 2, 2022
CLP11Feb 2, 2022
CNGA32Feb 2, 2022
COL12A12Feb 2, 2022
COL17A12Feb 2, 2022
COL1A12Feb 2, 2022
COL1A22Feb 2, 2022
COL27A11Feb 2, 2022
COL4A31Feb 2, 2022
COL4A51Feb 2, 2022
COL5A11Feb 2, 2022
COL5A21Feb 2, 2022
COL6A11Feb 2, 2022
COL6A21Feb 2, 2022
COL7A112Feb 2, 2022
COMP1Feb 2, 2022
COQ41Feb 2, 2022
CPLANE11Feb 2, 2022
CR21Feb 2, 2022
CRB21Feb 2, 2022
CREBBP1Feb 2, 2022
CSF1R1Feb 2, 2022
CSPP11Feb 2, 2022
CTLA41Feb 2, 2022
CTNND11Feb 2, 2022
CTNS1Feb 2, 2022
CUL72Feb 2, 2022
CUX21Feb 2, 2022
CYP11B11Feb 2, 2022
CYP1B11Feb 2, 2022
CYP27A11Feb 2, 2022
CYP27B11Feb 2, 2022
DCDC22Feb 2, 2022
DDX112Feb 2, 2022
DEPDC51Feb 2, 2022
DES1Feb 2, 2022
DGAT11Feb 2, 2022
DGKE1Feb 2, 2022
DGUOK1Feb 2, 2022
DHTKD12Feb 2, 2022
DMD3Feb 2, 2022
DNAH51Feb 2, 2022
DNM12Feb 2, 2022
DNM21Feb 2, 2022
DNMT3A1Feb 2, 2022
DOCK72Feb 2, 2022
DOCK83Feb 2, 2022
DSE1Feb 2, 2022
DTNA1Feb 2, 2022
DUOX21Feb 2, 2022
DYNC1H12Feb 2, 2022
DYNC2LI11Feb 2, 2022
DYSF4Feb 2, 2022
EBP1Feb 2, 2022
EGFR1Feb 2, 2022
EGFR-AS11Feb 2, 2022
EHMT11Feb 2, 2022
ETHE11Feb 2, 2022
EXT11Feb 2, 2022
EYS1Feb 2, 2022
F91Feb 2, 2022
FAH1Feb 2, 2022
FANCA1Feb 2, 2022
FANCL1Feb 2, 2022
FAT11Feb 2, 2022
FBN12Feb 2, 2022
FBXO381Feb 2, 2022
FDXR2Feb 2, 2022
FERMT11Feb 2, 2022
FEZF11Feb 2, 2022
FEZF1-AS11Feb 2, 2022
FGFR11Feb 2, 2022
FGFR23Feb 2, 2022
FGFR31Feb 2, 2022
FLCN1Feb 2, 2022
FOXG11Feb 2, 2022
FOXP11Feb 2, 2022
FREM21Feb 2, 2022
FSIP21Feb 2, 2022
FSIP2-AS11Feb 2, 2022
FUS2Feb 2, 2022
G6PD1Feb 2, 2022
GALC1Feb 2, 2022
GARS11Feb 2, 2022
GBA12Feb 2, 2022
GBE12Feb 2, 2022
GCDH2Feb 2, 2022
GCH11Feb 2, 2022
GDAP11Feb 2, 2022
GH-LCR1Feb 2, 2022
GJB11Feb 2, 2022
GLA1Jun 2, 2021
GLUD11Feb 2, 2022
GML1Feb 2, 2022
GNPTAB2Feb 2, 2022
GPHN2Feb 2, 2022
GPI2Feb 2, 2022
GRIN2A1Feb 2, 2022
GRIN2B2Feb 2, 2022
HBB3Feb 2, 2022
HEXA1Feb 2, 2022
HEXB2Feb 2, 2022
HMGCS22Feb 2, 2022
HNF1B2Feb 2, 2022
HPS51Feb 2, 2022
HSD3B71Feb 2, 2022
HYDIN1Feb 2, 2022
IDUA1Feb 2, 2022
IGHMBP23Feb 2, 2022
IL12RB12Feb 2, 2022
IL2RG1Feb 2, 2022
ITGA2B1Feb 2, 2022
ITGB21Feb 2, 2022
ITK1Feb 2, 2022
ITSN11Feb 2, 2022
IVD2Feb 2, 2022
KAAG11Feb 2, 2022
KANSL11Feb 2, 2022
KCNE21Feb 2, 2022
KCNH11Feb 2, 2022
KCNT12Feb 2, 2022
KIAA05861Feb 2, 2022
KIF221Feb 2, 2022
KIF5A1Feb 2, 2022
KIF5C1Feb 2, 2022
KIF71Feb 2, 2022
KISS1R1Feb 2, 2022
KLF11Feb 2, 2022
KRT11Feb 2, 2022
KRT101Feb 2, 2022
KRT10-AS11Feb 2, 2022
KRT142Feb 2, 2022
KRT6A1Feb 2, 2022
LAMA23Feb 2, 2022
LAMA52Feb 2, 2022
LAMB32Feb 2, 2022
LARGE11Feb 2, 2022
LHCGR1Feb 2, 2022
LIPA1Feb 2, 2022
LIPT21Feb 2, 2022
LMNA3Feb 2, 2022
LMNB11Feb 2, 2022
LMX1B1Feb 2, 2022
LNPK1Feb 2, 2022
LOC1027240585Feb 2, 2022
LOC1060990621Feb 2, 2022
LOC1065017131Feb 2, 2022
LOC1066279812Feb 2, 2022
LOC1067998331Feb 2, 2022
LOC1071335103Feb 2, 2022
LOC1079850331Feb 2, 2022
LOC1100063192Feb 2, 2022
LOC1116744751Feb 2, 2022
LPL1Feb 2, 2022
LYST2Feb 2, 2022
MATN31Feb 2, 2022
MBD51Feb 2, 2022
MECP22Feb 2, 2022
MED13L2Feb 2, 2022
MED231Feb 2, 2022
MEF2C1Feb 2, 2022
MEF2C-AS21Feb 2, 2022
MEN11Feb 2, 2022
MFF-DT1Feb 2, 2022
MFSD2A1Feb 2, 2022
MFSD81Feb 2, 2022
MLH12Feb 2, 2022
MME2Feb 2, 2022
MMUT2Feb 2, 2022
MPV171Feb 2, 2022
MSH24Feb 2, 2022
MTR1Feb 2, 2022
MUTYH1Feb 2, 2022
MYH61Jun 2, 2021
MYH72Feb 2, 2022
MYH91Feb 2, 2022
MYO5B3Feb 2, 2022
MYO7A1Feb 2, 2022
MYT1L2Feb 2, 2022
NAGS1Feb 2, 2022
NARS21Feb 2, 2022
NDRG11Feb 2, 2022
NDUFAF62Feb 2, 2022
NDUFS11Feb 2, 2022
NDUFS31Feb 2, 2022
NEB4Feb 2, 2022
NEK81Feb 2, 2022
NF12Feb 2, 2022
NHLRC11Feb 2, 2022
NIPA11Feb 2, 2022
NPC11Feb 2, 2022
NPHS15Feb 2, 2022
NR0B11Feb 2, 2022
NRIP12Feb 2, 2022
OTOA1Feb 2, 2022
OTUD6B1Feb 2, 2022
PAH1Feb 2, 2022
PANK22Feb 2, 2022
PARK71Feb 2, 2022
PCCB2Feb 2, 2022
PCDH191Feb 2, 2022
PDE10A1Feb 2, 2022
PDX11Feb 2, 2022
PEX261Feb 2, 2022
PEX61Feb 2, 2022
PHEX1Feb 2, 2022
PHKG21Feb 2, 2022
PIGH1Feb 2, 2022
PIK3CA1Feb 2, 2022
PIK3CD1Feb 2, 2022
PISD1Feb 2, 2022
PKD12Feb 2, 2022
PKD1-AS11Feb 2, 2022
PKLR1Feb 2, 2022
PKP11Feb 2, 2022
PKP21Feb 2, 2022
PLA2G64Feb 2, 2022
PLCB12Feb 2, 2022
PLCE11Feb 2, 2022
PLEC1Feb 2, 2022
PLIN11Feb 2, 2022
PLOD11Feb 2, 2022
PLOD21Feb 2, 2022
PLP11Feb 2, 2022
PMP221Feb 2, 2022
PNKP1Feb 2, 2022
PNPT11Feb 2, 2022
POLR3B1Feb 2, 2022
POMT11Feb 2, 2022
PORCN1Feb 2, 2022
PRF11Feb 2, 2022
PRSS11Jun 2, 2021
PSEN21Feb 2, 2022
PTCHD1-AS1Feb 2, 2022
PYCR21Feb 2, 2022
PYGM1Feb 2, 2022
RAB3GAP11Feb 2, 2022
RAB9B1Feb 2, 2022
RAF11Feb 2, 2022
RELN1Feb 2, 2022
REN1Feb 2, 2022
RIF11Feb 2, 2022
RNASEH2A1Feb 2, 2022
RNASEH2C1Feb 2, 2022
ROGDI1Feb 2, 2022
RPL36A-HNRNPH21Jun 2, 2021
RPS241Jun 2, 2021
RTEL11Feb 2, 2022
RTEL1-TNFRSF6B1Feb 2, 2022
RXYLT11Feb 2, 2022
RYR16Feb 2, 2022
RYR21Feb 2, 2022
SACS2Feb 2, 2022
SAG1Feb 2, 2022
SAR1B1Jun 2, 2021
SBDS2Feb 2, 2022
SCN1A8Feb 2, 2022
SCN2A3Feb 2, 2022
SCN3A2Feb 2, 2022
SCN4A1Feb 2, 2022
SCN8A1Feb 2, 2022
SDHB1Feb 2, 2022
SEC23B1Feb 2, 2022
SETBP11Feb 2, 2022
SETD1A1Feb 2, 2022
SETX1Feb 2, 2022
SGCA1Feb 2, 2022
SGCB2Feb 2, 2022
SLC12A32Feb 2, 2022
SLC1A22Feb 2, 2022
SLC26A41Feb 2, 2022
SLC35C11Feb 2, 2022
SLC4A11Feb 2, 2022
SLFN141Feb 2, 2022
SMC1A1Feb 2, 2022
SMPD11Feb 2, 2022
SOS12Feb 2, 2022
SPATA221Feb 2, 2022
ST3GAL31Feb 2, 2022
STAT11Feb 2, 2022
STAT31Feb 2, 2022
STIL1Feb 2, 2022
STON1-GTF2A1L1Feb 2, 2022
STXBP11Feb 2, 2022
SYNE22Feb 2, 2022
SYNGAP11Feb 2, 2022
SYNGAP1-AS11Feb 2, 2022
TANGO21Feb 2, 2022
TBC1D241Feb 2, 2022
TBCD1Feb 2, 2022
TBCK1Feb 2, 2022
TCF202Feb 2, 2022
TCF32Feb 2, 2022
TENM41Feb 2, 2022
TEX151Feb 2, 2022
TFG1Feb 2, 2022
TGM12Feb 2, 2022
TGM61Feb 2, 2022
TH1Feb 2, 2022
THRB1Feb 2, 2022
TMC11Feb 2, 2022
TMEM431Feb 2, 2022
TMX2-CTNND11Feb 2, 2022
TONSL2Feb 2, 2022
TP532Feb 2, 2022
TPK11Feb 2, 2022
TPP12Feb 2, 2022
TRAPPC122Feb 2, 2022
TRAPPC12-AS11Feb 2, 2022
TRB1Jun 2, 2021
TRIP121Feb 2, 2022
TRMT11Feb 2, 2022
TRPM11Feb 2, 2022
TRPV41Feb 2, 2022
TSC21Feb 2, 2022
TSPYL11Feb 2, 2022
TTC7A1Feb 2, 2022
TUBB2A2Feb 2, 2022
TULP11Feb 2, 2022
TYR4Feb 2, 2022
UGT1A2Feb 2, 2022
UGT1A12Feb 2, 2022
UGT1A102Feb 2, 2022
UGT1A32Feb 2, 2022
UGT1A42Feb 2, 2022
UGT1A52Feb 2, 2022
UGT1A62Feb 2, 2022
UGT1A72Feb 2, 2022
UGT1A82Feb 2, 2022
UGT1A92Feb 2, 2022
USP9X1Feb 2, 2022
VAC141Feb 2, 2022
VDR1Jun 2, 2021
VPS13B1Feb 2, 2022
VWF1Feb 2, 2022
WARS21Feb 2, 2022
WASHC51Feb 2, 2022
WDR731Feb 2, 2022
WT11Feb 2, 2022
ZEB21Feb 2, 2022
ZNF2761Feb 2, 2022

Condition

NameSubmissionsLast Updated
3-hydroxy-3-methylglutaryl-CoA synthase deficiency2Feb 2, 2022
3M syndrome 12Feb 2, 2022
ALG3-congenital disorder of glycosylation1Feb 2, 2022
Achondroplasia1Feb 2, 2022
Achromatopsia 22Feb 2, 2022
Acrocephalosyndactyly type I2Feb 2, 2022
Adams-Oliver syndrome 11Feb 2, 2022
Adrenoleukodystrophy1Feb 2, 2022
Agammaglobulinemia 8, autosomal dominant2Feb 2, 2022
Aicardi-Goutieres syndrome 31Feb 2, 2022
Aicardi-Goutieres syndrome 41Feb 2, 2022
Aicardi-Goutieres syndrome 61Feb 2, 2022
Alzheimer disease 91Feb 2, 2022
Amelocerebrohypohidrotic syndrome1Feb 2, 2022
Amyotrophic lateral sclerosis type 62Feb 2, 2022
Androgen resistance syndrome2Feb 2, 2022
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Feb 2, 2022
Annular epidermolytic ichthyosis1Feb 2, 2022
Arginase deficiency1Feb 2, 2022
Arrhythmogenic right ventricular dysplasia 21Feb 2, 2022
Arrhythmogenic right ventricular dysplasia 51Feb 2, 2022
Arrhythmogenic right ventricular dysplasia 91Feb 2, 2022
Ataxia-telangiectasia syndrome3Feb 2, 2022
Auditory neuropathy-optic atrophy syndrome2Feb 2, 2022
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1Feb 2, 2022
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency1Feb 2, 2022
Autosomal dominant centronuclear myopathy1Feb 2, 2022
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1Feb 2, 2022
Autosomal dominant nocturnal frontal lobe epilepsy 11Feb 2, 2022
Autosomal dominant nonsyndromic hearing loss 111Feb 2, 2022
Autosomal dominant nonsyndromic hearing loss 171Feb 2, 2022
Autosomal recessive Alport syndrome1Feb 2, 2022
Autosomal recessive DOPA responsive dystonia1Feb 2, 2022
Autosomal recessive congenital ichthyosis 12Feb 2, 2022
Autosomal recessive distal spinal muscular atrophy 11Feb 2, 2022
Autosomal recessive early-onset Parkinson disease 71Feb 2, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2A1Feb 2, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2B4Feb 2, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2D1Feb 2, 2022
Autosomal recessive limb-girdle muscular dystrophy type 2E2Feb 2, 2022
Autosomal recessive nonsyndromic hearing loss 221Feb 2, 2022
Autosomal recessive nonsyndromic hearing loss 41Feb 2, 2022
Autosomal recessive nonsyndromic hearing loss 71Feb 2, 2022
Autosomal recessive osteopetrosis 41Feb 2, 2022
Autosomal recessive spastic paraplegia type 782Feb 2, 2022
Bardet-Biedl syndrome 22Feb 2, 2022
Bartter disease type 31Feb 2, 2022
Becker muscular dystrophy1Feb 2, 2022
Bethlem myopathy 11Feb 2, 2022
Bethlem myopathy 22Feb 2, 2022
Bilateral frontoparietal polymicrogyria1Feb 2, 2022
Biotinidase deficiency2Feb 2, 2022
Blepharocheilodontic syndrome 21Feb 2, 2022
Breast-ovarian cancer, familial, susceptibility to, 11Feb 2, 2022
Breast-ovarian cancer, familial, susceptibility to, 21Feb 2, 2022
Bruck syndrome 21Feb 2, 2022
Bullous ichthyosiform erythroderma1Feb 2, 2022
CHARGE association1Feb 2, 2022
Cardiac anomalies - developmental delay - facial dysmorphism syndrome2Feb 2, 2022
Central core myopathy6Feb 2, 2022
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41Feb 2, 2022
Charcot-Marie-Tooth disease X-linked dominant 11Feb 2, 2022
Charcot-Marie-Tooth disease axonal type 2Q2Feb 2, 2022
Charcot-Marie-Tooth disease axonal type 2S2Feb 2, 2022
Charcot-Marie-Tooth disease axonal type 2T2Feb 2, 2022
Charcot-Marie-Tooth disease recessive intermediate A1Feb 2, 2022
Charcot-Marie-Tooth disease type 4D1Feb 2, 2022
Charcot-Marie-Tooth disease, type IA1Feb 2, 2022
Charcot-marie-tooth disease, axonal, type 2DD1Feb 2, 2022
Charlevoix-Saguenay spastic ataxia2Feb 2, 2022
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1Feb 2, 2022
Cholestanol storage disease1Feb 2, 2022
Chondrodysplasia punctata 2 X-linked dominant1Feb 2, 2022
Chylomicron retention disease1Jun 2, 2021
Ch├ędiak-Higashi syndrome2Feb 2, 2022
Clark-Baraitser syndrome1Feb 2, 2022
Cohen syndrome1Feb 2, 2022
Colorectal cancer, hereditary nonpolyposis, type 22Feb 2, 2022
Combined immunodeficiency due to DOCK8 deficiency3Feb 2, 2022
Combined oxidative phosphorylation defect type 131Feb 2, 2022
Combined oxidative phosphorylation defect type 241Feb 2, 2022
Complex cortical dysplasia with other brain malformations 21Feb 2, 2022
Complex cortical dysplasia with other brain malformations 52Feb 2, 2022
Congenital adrenal hypoplasia, X-linked1Feb 2, 2022
Congenital anomalies of kidney and urinary tract 32Feb 2, 2022
Congenital bile acid synthesis defect 11Feb 2, 2022
Congenital diarrhea 7 with exudative enteropathy1Feb 2, 2022
Congenital dyserythropoietic anemia type 41Feb 2, 2022
Congenital dyserythropoietic anemia, type II1Feb 2, 2022
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Feb 2, 2022
Congenital microvillous atrophy3Feb 2, 2022
Congenital muscular dystrophy due to LMNA mutation1Feb 2, 2022
Congenital muscular hypertrophy-cerebral syndrome1Feb 2, 2022
Congenital myasthenic syndrome 82Feb 2, 2022
Congenital myotonia, autosomal recessive form2Feb 2, 2022
Congenital stationary night blindness 1C1Feb 2, 2022
Crigler-Najjar syndrome, type II2Feb 2, 2022
Cystic fibrosis5Feb 2, 2022
DOORS syndrome1Feb 2, 2022
Deficiency of steroid 11-beta-monooxygenase1Feb 2, 2022
Desmin-related myofibrillar myopathy1Feb 2, 2022
Developmental and epileptic encephalopathy 941Feb 2, 2022
Developmental and epileptic encephalopathy, 113Feb 2, 2022
Developmental and epileptic encephalopathy, 122Feb 2, 2022
Developmental and epileptic encephalopathy, 131Feb 2, 2022
Developmental and epileptic encephalopathy, 142Feb 2, 2022
Developmental and epileptic encephalopathy, 151Feb 2, 2022
Developmental and epileptic encephalopathy, 22Feb 2, 2022
Developmental and epileptic encephalopathy, 232Feb 2, 2022
Developmental and epileptic encephalopathy, 272Feb 2, 2022
Developmental and epileptic encephalopathy, 312Feb 2, 2022
Developmental and epileptic encephalopathy, 361Feb 2, 2022
Developmental and epileptic encephalopathy, 41Feb 2, 2022
Developmental and epileptic encephalopathy, 412Feb 2, 2022
Developmental and epileptic encephalopathy, 424Feb 2, 2022
Developmental and epileptic encephalopathy, 622Feb 2, 2022
Developmental and epileptic encephalopathy, 671Feb 2, 2022
Developmental and epileptic encephalopathy, 91Feb 2, 2022
Developmental delay with variable intellectual impairment and behavioral abnormalities2Feb 2, 2022
Diabetes mellitus, transient neonatal, 21Feb 2, 2022
Diamond-Blackfan anemia 31Jun 2, 2021
Dilated cardiomyopathy 1NN1Feb 2, 2022
Dilated cardiomyopathy 1O1Feb 2, 2022
Dilated cardiomyopathy 1S1Feb 2, 2022
Dilated cardiomyopathy 1V1Feb 2, 2022
Drash syndrome1Feb 2, 2022
Duchenne muscular dystrophy2Feb 2, 2022
Dyskeratosis congenita, autosomal recessive 51Feb 2, 2022
Dyskinesia with orofacial involvement, autosomal dominant1Feb 2, 2022
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome1Feb 2, 2022
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2Feb 2, 2022
Ehlers-Danlos syndrome, classic type, 11Feb 2, 2022
Ehlers-Danlos syndrome, classic type, 21Feb 2, 2022
Ehlers-Danlos syndrome, kyphoscoliotic type 11Feb 2, 2022
Emery-Dreifuss muscular dystrophy 5, autosomal dominant2Feb 2, 2022
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities1Feb 2, 2022
Epicanthal fold1Feb 2, 2022
Epidermolysis bullosa simplex 1C, localized1Feb 2, 2022
Epidermolysis bullosa simplex 5B, with muscular dystrophy1Feb 2, 2022
Epidermolysis bullosa simplex due to plakophilin deficiency1Feb 2, 2022
Epidermolysis bullosa simplex, Koebner type1Feb 2, 2022
Epilepsy, familial focal, with variable foci 11Feb 2, 2022
Ethylmalonic encephalopathy1Feb 2, 2022
FG syndrome 41Feb 2, 2022
Fabry disease1Jun 2, 2021
Familial X-linked hypophosphatemic vitamin D refractory rickets1Feb 2, 2022
Familial adenomatous polyposis 12Feb 2, 2022
Familial adenomatous polyposis 22Feb 2, 2022
Familial cancer of breast2Feb 2, 2022
Familial hemophagocytic lymphohistiocytosis 21Feb 2, 2022
Familial hypokalemia-hypomagnesemia2Feb 2, 2022
Familial juvenile hyperuricemic nephropathy type 21Feb 2, 2022
Familial partial lipodystrophy, Dunnigan type2Feb 2, 2022
Familial temporal lobe epilepsy 71Feb 2, 2022
Fanconi anemia complementation group A1Feb 2, 2022
Fanconi anemia complementation group J1Feb 2, 2022
Fanconi anemia complementation group L1Feb 2, 2022
Finnish congenital nephrotic syndrome5Feb 2, 2022
Focal dermal hypoplasia1Feb 2, 2022
Focal segmental glomerulosclerosis 81Feb 2, 2022
Fraser syndrome 21Feb 2, 2022
Frontotemporal dementia and/or amyotrophic lateral sclerosis 21Feb 2, 2022
GTP cyclohydrolase I deficiency with hyperphenylalaninemia1Feb 2, 2022
Galactosylceramide beta-galactosidase deficiency1Feb 2, 2022
Galloway-Mowat syndrome 11Feb 2, 2022
Gaucher disease type I2Feb 2, 2022
Generalized dominant dystrophic epidermolysis bullosa1Feb 2, 2022
Generalized epilepsy with febrile seizures plus, type 24Feb 2, 2022
Glaucoma 3A1Feb 2, 2022
Glomerulotubular Nephropathy1Feb 2, 2022
Glutaric aciduria, type 12Feb 2, 2022
Glycogen storage disease IXc1Feb 2, 2022
Glycogen storage disease type III2Feb 2, 2022
Glycogen storage disease, type IV2Feb 2, 2022
Glycogen storage disease, type V1Feb 2, 2022
Glycosylphosphatidylinositol biosynthesis defect 171Feb 2, 2022
Hemolytic anemia due to glucophosphate isomerase deficiency2Feb 2, 2022
Hereditary diffuse leukoencephalopathy with spheroids1Feb 2, 2022
Hereditary factor IX deficiency disease1Feb 2, 2022
Hereditary pancreatitis1Jun 2, 2021
Hereditary spastic paraplegia 101Feb 2, 2022
Hereditary spastic paraplegia 482Feb 2, 2022
Hereditary spastic paraplegia 571Feb 2, 2022
Hereditary spastic paraplegia 61Feb 2, 2022
Hereditary spastic paraplegia 81Feb 2, 2022
Hereditary spherocytosis type 11Feb 2, 2022
Hermansky-Pudlak syndrome 51Feb 2, 2022
Heyn-Sproul-Jackson syndrome1Feb 2, 2022
Hyper-IgE recurrent infection syndrome 11Feb 2, 2022
Hyperammonemia, type III1Feb 2, 2022
Hyperinsulinemic hypoglycemia, familial, 12Feb 2, 2022
Hyperinsulinism-hyperammonemia syndrome1Feb 2, 2022
Hyperlipoproteinemia, type I1Feb 2, 2022
Hypertrophic cardiomyopathy 141Jun 2, 2021
Hypogonadotropic hypogonadism 2 with or without anosmia1Feb 2, 2022
Hypogonadotropic hypogonadism 22 with or without anosmia1Feb 2, 2022
Hypogonadotropic hypogonadism 8 with or without anosmia1Feb 2, 2022
Hypomyelinating leukodystrophy 101Feb 2, 2022
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism1Feb 2, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 31Feb 2, 2022
Immunodeficiency 141Feb 2, 2022
Immunodeficiency 471Feb 2, 2022
Immunodeficiency, common variable, 71Feb 2, 2022
Immunoglobulin-mediated membranoproliferative glomerulonephritis1Feb 2, 2022
Infantile hypophosphatasia1Feb 2, 2022
Infantile neuroaxonal dystrophy2Feb 2, 2022
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies1Feb 2, 2022
Intellectual developmental disorder, autosomal recessive 681Feb 2, 2022
Intellectual disability, Wolff type1Feb 2, 2022
Intellectual disability, X-linked 491Feb 2, 2022
Intellectual disability, X-linked 99, syndromic, female-restricted1Feb 2, 2022
Intellectual disability, X-linked, with or without seizures, arx-related1Feb 2, 2022
Intellectual disability, autosomal dominant 11Feb 2, 2022
Intellectual disability, autosomal dominant 132Feb 2, 2022
Intellectual disability, autosomal dominant 201Feb 2, 2022
Intellectual disability, autosomal dominant 291Feb 2, 2022
Intellectual disability, autosomal dominant 392Feb 2, 2022
Intellectual disability, autosomal dominant 51Feb 2, 2022
Intellectual disability-hypotonic facies syndrome, X-linked, 11Feb 2, 2022
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Feb 2, 2022
Isolated neonatal sclerosing cholangitis1Feb 2, 2022
Isovaleryl-CoA dehydrogenase deficiency2Feb 2, 2022
Joubert syndrome 171Feb 2, 2022
Joubert syndrome 211Feb 2, 2022
Joubert syndrome 231Feb 2, 2022
Joubert syndrome 31Feb 2, 2022
Joubert syndrome 51Feb 2, 2022
Junctional epidermolysis bullosa gravis of Herlitz2Feb 2, 2022
Junctional epidermolysis bullosa, non-Herlitz type2Feb 2, 2022
Kindler syndrome1Feb 2, 2022
Kleefstra syndrome 11Feb 2, 2022
Koolen-de Vries syndrome1Feb 2, 2022
Lafora disease1Feb 2, 2022
Landau-Kleffner syndrome1Feb 2, 2022
Left ventricular noncompaction 11Feb 2, 2022
Leukocyte adhesion deficiency 11Feb 2, 2022
Leukocyte adhesion deficiency type II1Feb 2, 2022
Leydig cell agenesis1Feb 2, 2022
Li-Fraumeni syndrome 12Feb 2, 2022
Liberfarb syndrome1Feb 2, 2022
Long QT syndrome 61Feb 2, 2022
Lung cancer1Feb 2, 2022
Lymphoproliferative syndrome 11Feb 2, 2022
Lynch syndrome 14Feb 2, 2022
Lysosomal acid lipase deficiency1Feb 2, 2022
Marfan syndrome2Feb 2, 2022
Maturity-onset diabetes of the young type 41Feb 2, 2022
Megalencephaly-capillary malformation-polymicrogyria syndrome1Feb 2, 2022
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency2Feb 2, 2022
Merosin deficient congenital muscular dystrophy2Feb 2, 2022
Metachromatic leukodystrophy2Feb 2, 2022
Methylcobalamin deficiency type cblG1Feb 2, 2022
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency2Feb 2, 2022
Microcephaly 15, primary, autosomal recessive1Feb 2, 2022
Microcephaly 26, primary, autosomal dominant1Feb 2, 2022
Microcephaly 7, primary, autosomal recessive1Feb 2, 2022
Microcephaly, seizures, and developmental delay1Feb 2, 2022
Mitochondrial DNA depletion syndrome 31Feb 2, 2022
Mitochondrial complex 1 deficiency, nuclear type 172Feb 2, 2022
Mitochondrial complex 1 deficiency, nuclear type 51Feb 2, 2022
Mitochondrial complex 1 deficiency, nuclear type 81Feb 2, 2022
Mitochondrial complex 2 deficiency, nuclear type 41Feb 2, 2022
Mowat-Wilson syndrome1Feb 2, 2022
Mucolipidosis type II1Feb 2, 2022
Mucopolysaccharidosis, MPS-I-H/S1Feb 2, 2022
Multiple congenital exostosis1Feb 2, 2022
Multiple endocrine neoplasia, type 11Feb 2, 2022
Multiple epiphyseal dysplasia type 11Feb 2, 2022
Multiple epiphyseal dysplasia type 51Feb 2, 2022
Multiple fibrofolliculomas1Feb 2, 2022
Multiple gastrointestinal atresias1Feb 2, 2022
Muscular dystrophy, limb-girdle, autosomal recessive 231Feb 2, 2022
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 101Feb 2, 2022
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B11Feb 2, 2022
Muscular dystrophy-dystroglycanopathy type B61Feb 2, 2022
Myosin storage myopathy1Feb 2, 2022
Nail-patella syndrome1Feb 2, 2022
Navajo neurohepatopathy1Feb 2, 2022
Nemaline myopathy 24Feb 2, 2022
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome1Feb 2, 2022
Nephropathic cystinosis1Feb 2, 2022
Nephrotic syndrome1Feb 2, 2022
Nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome1Feb 2, 2022
Nephrotic syndrome, type 31Feb 2, 2022
Neurodegeneration with brain iron accumulation 2B2Feb 2, 2022
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum1Feb 2, 2022
Neurodevelopmental disorder with speech impairment and dysmorphic facies1Feb 2, 2022
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures1Feb 2, 2022
Neurofibromatosis, type 12Feb 2, 2022
Neuronal ceroid lipofuscinosis 22Feb 2, 2022
Neuronal ceroid lipofuscinosis 71Feb 2, 2022
Neuronopathy, distal hereditary motor, type 2D1Feb 2, 2022
Neuronopathy, distal hereditary motor, type 5A1Feb 2, 2022
Niemann-Pick disease, type A1Feb 2, 2022
Niemann-Pick disease, type C11Feb 2, 2022
Noonan syndrome 42Feb 2, 2022
Oguchi disease-11Feb 2, 2022
Osteogenesis imperfecta type I2Feb 2, 2022
Osteogenesis imperfecta, recessive perinatal lethal2Feb 2, 2022
PLIN1-related familial partial lipodystrophy1Feb 2, 2022
Pachyonychia congenita 31Feb 2, 2022
Pelizaeus-Merzbacher disease1Feb 2, 2022
Peroxisome biogenesis disorder 4A (Zellweger)1Feb 2, 2022
Peroxisome biogenesis disorder 7A (Zellweger)1Feb 2, 2022
Pfeiffer syndrome1Feb 2, 2022
Phenylketonuria1Feb 2, 2022
Pigmentary pallidal degeneration2Feb 2, 2022
Platelet-type bleeding disorder 101Feb 2, 2022
Platelet-type bleeding disorder 161Feb 2, 2022
Platelet-type bleeding disorder 201Feb 2, 2022
Polycystic kidney disease, adult type2Feb 2, 2022
Polycystic liver disease 3 with or without kidney cysts1Feb 2, 2022
Polyglandular autoimmune syndrome, type 11Jun 2, 2021
Pontocerebellar hypoplasia type 101Feb 2, 2022
Potassium-aggravated myotonia1Feb 2, 2022
Presynaptic congenital myasthenic syndrome2Feb 2, 2022
Primary ciliary dyskinesia 31Feb 2, 2022
Primary ciliary dyskinesia 51Feb 2, 2022
Primary hyperoxaluria, type I1Feb 2, 2022
Progressive familial intrahepatic cholestasis type 22Feb 2, 2022
Propionic acidemia2Feb 2, 2022
Pseudo-Hurler polydystrophy1Feb 2, 2022
Pyruvate kinase deficiency of red cells1Feb 2, 2022
Recessive dystrophic epidermolysis bullosa11Feb 2, 2022
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome1Feb 2, 2022
Renal cysts and diabetes syndrome2Feb 2, 2022
Renal tubular acidosis with progressive nerve deafness1Feb 2, 2022
Renal tubular acidosis, distal, 4, with hemolytic anemia1Feb 2, 2022
Renal-hepatic-pancreatic dysplasia 21Feb 2, 2022
Retinitis pigmentosa 141Feb 2, 2022
Retinitis pigmentosa 251Feb 2, 2022
Rett syndrome2Feb 2, 2022
Rett syndrome, congenital variant1Feb 2, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations1Feb 2, 2022
Sandhoff disease2Feb 2, 2022
Scapuloperoneal spinal muscular atrophy1Feb 2, 2022
Schinzel-Giedion syndrome1Feb 2, 2022
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1Feb 2, 2022
Severe myoclonic epilepsy in infancy4Feb 2, 2022
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans1Feb 2, 2022
Short-limb skeletal dysplasia with severe combined immunodeficiency1Feb 2, 2022
Shwachman-Diamond syndrome 12Feb 2, 2022
Sitosterolemia 21Feb 2, 2022
Spermatogenic failure 201Feb 2, 2022
Spermatogenic failure 251Feb 2, 2022
Spermatogenic failure 341Feb 2, 2022
Spinocerebellar ataxia type 351Feb 2, 2022
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21Feb 2, 2022
Sponastrime dysplasia2Feb 2, 2022
Spondyloepimetaphyseal dysplasia with multiple dislocations1Feb 2, 2022
Spongy degeneration of central nervous system1Feb 2, 2022
Steel syndrome1Feb 2, 2022
Striatal degeneration, autosomal dominant 21Feb 2, 2022
Striatonigral degeneration, childhood-onset1Feb 2, 2022
Sudden infant death-dysgenesis of the testes syndrome1Feb 2, 2022
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C1Feb 2, 2022
Tay-Sachs disease1Feb 2, 2022
Temple-Baraitser syndrome1Feb 2, 2022
Thyroid dyshormonogenesis 61Feb 2, 2022
Thyroid hormone resistance, generalized, autosomal dominant1Feb 2, 2022
Tremor, hereditary essential, 51Feb 2, 2022
Tuberous sclerosis 21Feb 2, 2022
Tyrosinase-negative oculocutaneous albinism4Feb 2, 2022
Tyrosinemia type I1Feb 2, 2022
Ullrich congenital muscular dystrophy 11Feb 2, 2022
Vasculitis due to ADA2 deficiency1Feb 2, 2022
Ventriculomegaly-cystic kidney disease1Feb 2, 2022
Vitamin D-dependent rickets type II with alopecia1Jun 2, 2021
Vitamin D-dependent rickets, type 1A1Feb 2, 2022
Warburg micro syndrome 11Feb 2, 2022
Warsaw breakage syndrome2Feb 2, 2022
Wilson disease5Feb 2, 2022
X-linked Alport syndrome1Feb 2, 2022
X-linked severe combined immunodeficiency1Feb 2, 2022
Zimmermann-Laband syndrome 11Feb 2, 2022
beta Thalassemia3Feb 2, 2022
von Willebrand disease type 21Feb 2, 2022
Support Center