| category |
Gene |
Condition name (OMIM) |
| syndromic |
AAAS |
Achalasia-addisonianism-alacrimia syndrome |
| endocrine |
ABCC8 |
Diabetes mellitus, permanent neonatal 3, with or without neurologic features |
| metabolic |
ABCD1 |
Adrenoleukodystrophy |
| metabolic |
ABCD4 |
Methylmalonic aciduria and homocystinuria, cblJ type |
| metabolic |
ACAD8 |
Isobutyryl-CoA dehydrogenase deficiency |
| metabolic |
ACADM |
Medium-chain acyl-CoA dehydrogenase deficiency |
| metabolic |
ACADS |
Acyl-CoA dehydrogenase, short-chain, deficiency of |
| metabolic |
ACADSB |
2-methylbutyrylglycinuria |
| metabolic |
ACADVL |
VLCAD deficiency |
| metabolic |
ACAT1 |
Alpha-methylacetoacetic aciduria |
| neurodevelopmental |
ACBD5 |
Retinal dystrophy with leukodystrophy |
| metabolic |
ACOX1 |
1. Mitchell syndrome
2. Peroxisomal acyl-CoA oxidase deficiency |
| syndromic |
ACTB |
Baraitser-Winter syndrome 1 |
| syndromic |
ACTG1 |
1. Baraitser-Winter syndrome 2
2. Deafness, autosomal dominant 20/26 |
| neurodevelopmental |
ACTL6B |
1. Intellectual developmental disorder with severe speech and ambulation defects
2. Developmental and epileptic encephalopathy 76 |
| immune |
ADA |
SCID due to ADA deficiency |
| immune |
ADA2 |
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome |
| hematologic |
ADAMTS13 |
Familial thrombotic thrombocytopenic purpura |
| syndromic |
ADNP |
Helsmoortel-van der Aa syndrome |
| metabolic |
ADSL |
Adenylosuccinase deficiency |
| metabolic |
AGL |
Glycogen storage disease III |
| metabolic |
AGPAT2 |
Congenital generalized lipodystrophy type 1 |
| neuromuscular |
AGRN |
Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects |
| metabolic |
AGXT |
Hyperoxaluria, primary, type 1 |
| metabolic |
AHCY |
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase |
| syndromic |
AHDC1 |
Xia-Gibbs syndrome |
| immune |
AIRE |
Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia |
| immune |
AK2 |
Reticular Dysgenesis |
| GI |
AKR1D1 |
Bile acid synthesis defect, congenital, 2 |
| hematologic |
ALAS2 |
Protoporphyria, erythropoietic, X-linked |
| metabolic |
ALDH4A1 |
Hyperprolinemia, type II |
| metabolic |
ALDH5A1 |
Succinic semialdehyde dehydrogenase deficiency |
| neurodevelopmental |
ALDH7A1 |
Pyridoxine-dependent epilepsy |
| metabolic |
ALDOB |
Hereditary fructose intolerance |
| neuromuscular |
ALG14 |
Myasthenic syndrome, congenital, 15, without tubular aggregates |
| neuromuscular |
ALG2 |
Congenital myasthenic syndrome-14 |
| metabolic |
ALPL |
1. Autosomal dominant hypophosphatasia
2. Autosomal recessive hypophosphatasia |
| GI |
AMACR |
Bile acid synthesis defect, congenital, 4 |
| hematologic |
AMN |
Imerslund-Grasbeck syndrome 2 |
| metabolic |
AMT |
Glycine encephalopathy 2 |
| syndromic |
ANKRD11 |
KBG syndrome |
| syndromic |
AP3B1 |
Hermansky-Pudlak syndrome 2 |
| syndromic |
AP3D1 |
Hermansky-Pudlak syndrome 10 |
| metabolic |
APOA5 |
apolipoprotein A-V deficiency |
| metabolic |
APOB |
Hypobetalipoproteinemia |
| metabolic |
APOC2 |
Hyperlipoproteinemia, type Ib |
| renal |
APRT |
Adenine phosphoribosyltransferase deficiency |
| renal |
AQP2 |
1. Dominant diabetes insipidus, nephrogenic, 2
2. Recessive diabetes insipidus, nephrogenic, 2 |
| metabolic |
ARG1 |
Argininemia |
| syndromic |
ARID1B |
Coffin-Siris syndrome 1 |
| hematologic |
ARPC1B |
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease |
| metabolic |
ARSA |
Metachromatic leukodystrophy |
| metabolic |
ARSB |
Mucopolysaccharidosis VI |
| neurodevelopmental |
ASH1L |
Intellectual developmental disorder, autosomal dominant 52 |
| metabolic |
ASL |
Argininosuccinic aciduria |
| metabolic |
ASS1 |
Citrullinemia |
| syndromic |
ASXL3 |
Bainbridge-Ropers syndrome |
| renal |
ATP6V0A4 |
Distal renal tubular acidosis 3, with or without sensorineural hearing loss |
| renal |
ATP6V1B1 |
Distal renal tubular acidosis 2 with progressive sensorineural hearing loss |
| metabolic |
ATP7A |
Menkes disease |
| metabolic |
ATP7B |
Wilson disease |
| metabolic |
AUH |
3-methylglutaconic aciduria, type I |
| neurodevelopmental |
AUTS2 |
Intellectual developmental disorder, autosomal dominant 26 |
| renal |
AVP |
Diabetes insipidus, neurohypophyseal |
| renal |
AVPR2 |
Diabetes insipidus, nephrogenic, 1 |
| GI |
BAAT |
Bile acid conjugation defect 1 |
| metabolic |
BCKDHA |
Maple syrup urine disease, type Ia |
| metabolic |
BCKDHB |
Maple syrup urine disease, type Ib |
| metabolic |
BCKDK |
Branched-chain ketoacid dehydrogenase kinase deficiency |
| syndromic |
BCL11A |
Dias-Logan syndrome |
| immune |
BLNK |
Agammaglobulinemia 4 |
| metabolic |
BSCL2 |
Lipodystrophy, congenital generalized, type 2 |
| metabolic |
BTD |
Biotinidase deficiency |
| immune |
BTK |
X-linked agammaglobulinemia |
| immune |
C2 |
C2 deficiency |
| immune |
C3 |
C3 deficiency |
| immune |
C5 |
[Eculizumab, poor response to]
C5 deficiency |
| immune |
C6 |
C6 deficiency |
| immune |
C7 |
C7 deficiency |
| immune |
C8A |
C8 deficiency, type I |
| immune |
C8B |
C8 deficiency, type II |
| immune |
C9 |
C9 deficiency |
| skeletal |
CA2 |
Osteopetrosis with renal tubular acidosis |
| neurodevelopmental |
CAD |
Early infantile epileptic encephalopathy-50 |
| syndromic |
CASK |
1. FG syndrome 4/Intellectual developmental disorder, with or without nystagmus
2. Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia |
| CV |
CASQ2 |
Ventricular tachycardia, catecholaminergic polymorphic, 2 |
| endocrine |
CASR |
Neonatal hyperparathyroidism |
| metabolic |
CAV1 |
1. Lipodystrophy, familial partial, type 7
2. Lipodystrophy, congenital generalized, type 3 |
| metabolic |
CAVIN1 |
Lipodystrophy, congenital generalized, type 4 |
| hematologic |
CBLIF |
Intrinsic factor deficiency |
| metabolic |
CBS |
Homocystinuria, B6-responsive and nonresponsive types |
| pulmonary |
CCDC103 |
Ciliary dyskinesia, primary, 17 |
| pulmonary |
CCDC39 |
Ciliary dyskinesia, primary, 14 |
| pulmonary |
CCDC40 |
Ciliary dyskinesia, primary, 15 |
| pulmonary |
CCDC65 |
Ciliary dyskinesia, primary, 27 |
| pulmonary |
CCNO |
Ciliary dyskinesia, primary, 29 |
| immune |
CD247 |
Immunodeficiency 25 |
| immune |
CD3D |
Immunodeficiency 19, severe combined |
| immune |
CD3E |
Immunodeficiency 18 |
| immune |
CD3G |
Immunodeficiency 17, CD3 gamma deficient |
| immune |
CD40 |
Immunodeficiency with hyper-IgM, type 3 |
| immune |
CD40LG |
X-linked immunodeficiency with hyper-IgM type 1 |
| hematologic |
CD70 |
Lymphoproliferative syndrome 3 |
| immune |
CD79A |
Agammaglobulinemia 3 |
| immune |
CD79B |
Agammaglobulinemia 6 |
| immune |
CDCA7 |
Immunodeficiency-centromeric instability-facial anomalies syndrome 3 |
| neurodevelopmental |
CDKL5 |
Developmental and epileptic encephalopathy 2 |
| syndromic |
CDKN1C |
IMAGE syndrome |
| immune |
CEBPE |
Specific granule deficiency 1 |
| pulmonary |
CFAP298 |
Ciliary dyskinesia, primary, 26 |
| pulmonary |
CFAP300 |
Ciliary dyskinesia, primary, 38 |
| immune |
CFB |
1. {Hemolytic uremic syndrome, atypical, susceptibility to, 4}
2. Complement factor B deficiency |
| immune |
CFD |
Complement factor D deficiency |
| immune |
CFH |
Complement factor H deficiency |
| immune |
CFI |
Complement factor I deficiency |
| immune |
CFP |
Properdin deficiency, X-linked |
| pulmonary |
CFTR |
Cystic fibrosis |
| neurodevelopmental |
CHAMP1 |
Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features |
| neuromuscular |
CHAT |
Congenital myasthenic syndrome-6 |
| neurodevelopmental |
CHD2 |
Developmental and epileptic encephalopathy 94 |
| syndromic |
CHD3 |
Snijders Blok-Campeau syndrome |
| syndromic |
CHD7 |
CHARGE syndrome |
| neurodevelopmental |
CHD8 |
Intellectual developmental disorder with autism and macrocephaly |
| neuromuscular |
CHRNA1 |
1. Congenital myasthenic syndrome-1 (1A, slow-channel)
2. Congenital myasthenic syndrome-1 (1B, fast-channel) |
| neuromuscular |
CHRNB1 |
1. Congenital myasthenic syndrome-2 (2A, slow-channel)
2. Congenital myasthenic syndrome-2 ( 2C, associated with acetylcholine receptor deficiency) |
| neuromuscular |
CHRND |
1.. Congenital myasthenic syndrome-3 (3A, slow-channel)
2. Congenital myasthenic syndrome-3 (3C, associated with acetylcholine receptor deficiency)
3. Congenital myasthenic syndrome-3 ( 3B, fast-channel) |
| neuromuscular |
CHRNE |
1. Myasthenic syndrome, congenital, 4 (4A)
2. Myasthenic syndrome, congenital, 4 (4B)
3. Myasthenic syndrome, congenital, 4 (4C) |
| immune |
CIITA |
Bare lymphocyte syndrome, type II, complementation group A |
| skeletal |
CLCN7 |
Osteopetrosis |
| metabolic |
CLPB |
1. 3-methylglutaconic aciduria, type VIIA, autosomal dominant
2. 3-methylglutaconic aciduria, type VIIB, autosomal recessive
3. Neutropenia, severe congenital, 9, autosomal dominant |
| neurodevelopmental |
CNOT3 |
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies |
| neuromuscular |
COL13A1 |
Congenital myasthenic syndrome-19 |
| skeletal |
COL1A1 |
Osteogenesis Imperfecta |
| skeletal |
COL1A2 |
Osteogenesis Imperfecta |
| neuromuscular |
COLQ |
Congenital myasthenic syndrome-5 |
| metabolic |
COQ2 |
Coenzyme Q10 deficiency, primary, 1 |
| metabolic |
COQ4 |
Coenzyme Q10 deficiency, primary, 7 |
| metabolic |
COQ6 |
Coenzyme Q10 deficiency, primary, 6 |
| metabolic |
COQ8B |
Nephrotic syndrome, type 9 |
| metabolic |
CPS1 |
Carbamoyl phosphate synthetase I deficiency |
| metabolic |
CPT1A |
Carnitine palmitoyltransferase I deficiency |
| metabolic |
CPT2 |
Carnitine palmitoyltransferase II deficiency infantile |
| syndromic |
CREBBP |
Rubinstein-Taybi syndrome 1 |
| neurodevelopmental |
CSNK2A1 |
Okur-Chung neurodevelopmental syndrome |
| neurodevelopmental |
CTBP1 |
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome |
| neurodevelopmental |
CTCF |
Intellectual developmental disorder, autosomal dominant 21 |
| renal |
CTNS |
Cystinosis, nephropathic |
| immune |
CTPS1 |
Immunodeficiency 24 |
| renal |
CUL3 |
Pseudohypoaldosteronism, type IIE |
| immune |
CYBA |
Chronic granulomatous disease 4 |
| immune |
CYBB |
Chronic granulomatous disease x-linked |
| immune |
CYBC1 |
Chronic granulomatous disease 5 |
| endocrine |
CYP11A1 |
Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete |
| endocrine |
CYP11B2 |
Hypoaldosteronism, congenital, due to CMO I deficiency |
| endocrine |
CYP17A1 |
17-alpha-hydroxylase/17,20-lyase deficiency |
| metabolic |
CYP27A1 |
Cerebrotendinous xanthomatosis |
| endocrine |
CYP27B1 |
Vitamin D-dependent rickets, type I |
| endocrine |
CYP2R1 |
Rickets due to defect in vitamin D 25-hydroxylation deficiency |
| GI |
CYP7B1 |
Bile acid synthesis defect, congenital, 3 |
| metabolic |
DBT |
Maple syrup urine disease, type II |
| skin |
DDB2 |
Xeroderma pigmentosum, group E, DDB-negative subtype |
| metabolic |
DDC |
Aromatic amino acid decarboxylase deficiency |
| neurodevelopmental |
DDX3X |
Intellectual developmental disorder, X-linked syndromic, Snijders Blok type |
| neurodevelopmental |
DEAF1 |
1. Vulto-van Silfout-de Vries syndrome
2. Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures |
| GI |
DGAT1 |
Diarrhea 7, protein-losing enteropathy type |
| metabolic |
DHCR7 |
Smith-Lemli-Opitz syndrome |
| hematologic |
DHFR |
Megaloblastic anemia due to dihydrofolate reductase deficiency |
| neurodevelopmental |
DHPS |
Neurodevelopmental disorder with seizures and speech and walking impairment |
| metabolic |
DLD |
Dihydrolipoamide dehydrogenase deficiency |
| neuromuscular |
DMD |
Duchenne muscular dystrophy
Becker muscular dystrophy |
| metabolic |
DMP1 |
Hypophosphatemic rickets, AR |
| pulmonary |
DNAAF1 |
Ciliary dyskinesia, primary, 13 |
| pulmonary |
DNAAF11 |
Ciliary dyskinesia, primary, 19 |
| pulmonary |
DNAAF2 |
Ciliary dyskinesia, primary, 10 |
| pulmonary |
DNAAF3 |
Ciliary dyskinesia, primary, 2 |
| pulmonary |
DNAAF4 |
Ciliary dyskinesia, primary, 25 |
| pulmonary |
DNAAF5 |
Ciliary dyskinesia, primary, 18 |
| pulmonary |
DNAAF6 |
Ciliary dyskinesia, primary, 36, X-linked |
| pulmonary |
DNAH11 |
Ciliary dyskinesia, primary, 7 |
| pulmonary |
DNAH5 |
Ciliary dyskinesia, primary, 3 |
| pulmonary |
DNAH9 |
Ciliary dyskinesia, primary, 40 |
| pulmonary |
DNAI1 |
Ciliary dyskinesia, primary, 1 |
| pulmonary |
DNAI2 |
Ciliary dyskinesia, primary, 9 |
| metabolic |
DNAJC19 |
3-methylglutaconic aciduria, type V |
| hematologic |
DNAJC21 |
Bone marrow failure syndrome 3 |
| pulmonary |
DNAL1 |
Ciliary dyskinesia, primary, 16 |
| immune |
DNMT3B |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 |
| immune |
DOCK2 |
Immunodeficiency 40 |
| immune |
DOCK8 |
Hyper-IgE recurrent infection syndrome, autosomal recessive |
| neuromuscular |
DOK7 |
Congenital myasthenic syndrome-10 |
| neuromuscular |
DPAGT1 |
Congenital myasthenic syndrome-13 |
| pulmonary |
DRC1 |
Ciliary dyskinesia, primary, 21 |
| endocrine |
DUOX2 |
Thyroid dyshormonogenesis 6 |
| endocrine |
DUOXA2 |
Thyroid dyshormonogenesis 5 |
| neurodevelopmental |
DYRK1A |
Intellectual developmental disorder, autosomal dominant 7 |
| neurodevelopmental |
EBF3 |
Hypotonia, ataxia, and delayed development syndrome |
| skin |
EDA |
Tooth agenesis, selective, X-linked 1
Ectodermal dysplasia 1, hypohidrotic, X-linked |
| skin |
EDAR |
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive |
| skin |
EDARADD |
1. Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
2. Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive |
| hematologic |
EFL1 |
Shwachman-Diamond syndrome 2 |
| syndromic |
EHMT1 |
Kleefstra syndrome 1 |
| syndromic |
EIF2AK3 |
multiple epiphyseal dysplasia with early onset diabetes mellitus, Wolcot-Rallison syndrome |
| metabolic |
ENPP1 |
Arterial calcification, generalized, of infancy, 1 |
| GI |
EPCAM |
Diarrhea 5, with tufting enteropathy, congenital |
| skin |
ERCC2 |
Xeroderma pigmentosum, group D |
| skin |
ERCC3 |
Xeroderma pigmentosum, group B |
| skin |
ERCC4 |
Xeroderma pigmentosum, group F |
| skin |
ERCC5 |
Xeroderma pigmentosum, group G |
| metabolic |
ETFA |
Glutaric acidemia IIA |
| metabolic |
ETFB |
Glutaric acidemia IIB |
| metabolic |
ETFDH |
Glutaric acidemia IIC |
| metabolic |
ETHE1 |
Ethylmalonic encephalopathy |
| hematologic |
F10 |
Factor X deficiency |
| hematologic |
F13A1 |
Factor XIIIA deficiency |
| hematologic |
F13B |
Factor XIIIB deficiency |
| hematologic |
F2 |
(Thrombophilia 1 due to thrombin defect)
Congenital Prothrombin deficiency |
| hematologic |
F5 |
Factor V deficiency |
| hematologic |
F7 |
Factor VII deficiency |
| hematologic |
F8 |
Haemophilia A |
| hematologic |
F9 |
Haemophilia B |
| metabolic |
FAH |
Tyrosinemia, type I |
| syndromic |
FAM111A |
Kenny-Caffey syndrome, type 2 |
| metabolic |
FBP1 |
Fructose-1,6-bisphosphatase deficiency |
| immune |
FCHO1 |
Immunodeficiency 76 |
| hematologic |
FECH |
Protoporphyria, erythropoietic, 1 |
| immune |
FERMT3 |
Leukocyte adhesion deficiency, type III |
| hematologic |
FGA |
Afibrinogenemia, congenital |
| hematologic |
FGB |
Afibrinogenemia, congenital |
| metabolic |
FGF23 |
Tumoral calcinosis, hyperphosphatemic, familial, 2 |
| skeletal |
FGFR3 |
Achondroplasia |
| hematologic |
FGG |
Afibrinogenemia, congenital |
| metabolic |
FOLR1 |
Neurodegeneration due to cerebral folate transport deficiency |
| syndromic |
FOXE1 |
Bamforth-Lazarus syndrome |
| neurodevelopmental |
FOXG1 |
Rett syndrome, congenital variant |
| pulmonary |
FOXJ1 |
Ciliary dyskinesia, primary, 43 |
| immune |
FOXN1 |
T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| neurodevelopmental |
FOXP1 |
Intellectual developmental disorder with language impairment with or without autistic features |
| immune |
FOXP3 |
X-linked immunodysregulation, polyendocrinopathy, and enteropathy, X-linked |
| metabolic |
G6PC1 |
Glycogen storage disease Ia |
| metabolic |
G6PD |
Hemolytic anemia, G6PD deficient (favism) |
| metabolic |
GAA |
Glycogen storage disease II |
| metabolic |
GALC |
Krabbe disease |
| metabolic |
GALE |
Galactose epimerase deficiency |
| metabolic |
GALK1 |
Galactokinase deficiency with cataracts |
| metabolic |
GALM |
Galactosemia IV |
| metabolic |
GALNS |
Mucopolysaccharidosis IVA |
| metabolic |
GALNT3 |
Tumoral calcinosis, hyperphosphatemic, familial, 1 |
| metabolic |
GALT |
Galactosaemia |
| metabolic |
GAMT |
Cerebral creatine deficiency syndrome 2 |
| pulmonary |
GAS8 |
Ciliary dyskinesia, primary, 33 |
| metabolic |
GATM |
(Fanconi renotubular syndrome 1)
Cerebral creatine deficiency syndrome 3 |
| metabolic |
GCDH |
Glutaric aciduria, type I |
| metabolic |
GCH1 |
Dystonia, DOPA-responsive
Hyperphenylalaninemia, BH4-deficient, B |
| endocrine |
GCK |
1. Familial hyperinsulinemic hypoglycemia-3
2. Diabetes mellitus, permanent neonatal 1 |
| endocrine |
GCM2 |
familial isolated hypoparathyroidism 2 |
| neuromuscular |
GFPT1 |
Congenital myasthenic syndrome-12 |
| endocrine |
GH1 |
1. Growth hormone deficiency, isolated, type II
2. Isolated growth hormone deficiency type 1A
3. Isolated growth hormone deficiency type 1B |
| endocrine |
GHR |
Growth hormone receptor deficiency |
| endocrine |
GHRHR |
Isolated growth hormone deficiency type 4 |
| hearing |
GJB2 |
Deafness |
| metabolic |
GLA |
Fabry disease |
| metabolic |
GLB1 |
MPS4B |
| metabolic |
GLDC |
Glycine encephalopathy1 |
| endocrine |
GLIS3 |
Diabetes mellitus, neonatal, with congenital hypothyroidism |
| endocrine |
GLUD1 |
Hyperinsulinism-hyperammonemia syndrome |
| syndromic |
GP1BA |
Bernard-Soulier syndrome, type A1 (recessive) |
| syndromic |
GP1BB |
Bernard-Soulier syndrome, type B |
| syndromic |
GP9 |
Bernard-Soulier syndrome, type C |
| metabolic |
GPIHBP1 |
Hyperlipoproteinemia, type 1D |
| endocrine |
GPR101 |
Growth hormone-secreting pituitary adenoma-2 |
| metabolic |
GRHPR |
Hyperoxaluria, primary, type II |
| neurodevelopmental |
GRIN2B |
1. Intellectual developmental disorder, autosomal dominant 6, with or without seizures
2. Developmental and epileptic encephalopathy 27 |
| metabolic |
GUSB |
Mucopolysaccharidosis VII |
| endocrine |
HADH |
Familial hyperinsulinemic hypoglycemia-4 |
| metabolic |
HADHA |
LCHAD deficiency |
| metabolic |
HADHB |
Trifunctional protein deficiency |
| hematologic |
HBB |
1. Beta Thalassaemia
2. Sickle Cell Disease |
| metabolic |
HCFC1 |
Methylmalonic aciduria and homocysteinemia, cblX type |
| neurodevelopmental |
HECW2 |
Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| immune |
HELLS |
Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
| endocrine |
HESX1 |
Pituitary hormone deficiency, combined, 5 |
| metabolic |
HIBCH |
3-hydroxyisobutryl-CoA hydrolase deficiency |
| neurodevelopmental |
HIVEP2 |
Intellectual developmental disorder, autosomal dominant 43 |
| endocrine |
HK1 |
HK1 associated hyperinsulinism |
| metabolic |
HLCS |
Holocarboxylase synthetase deficiency |
| metabolic |
HMGCL |
HMG-CoA lyase deficiency |
| metabolic |
HMGCS2 |
HMG-CoA synthase-2 deficiency |
| neurodevelopmental |
HNRNPH2 |
Intellectual developmental disorder, X-linked syndromic, Bain type |
| neurodevelopmental |
HNRNPU |
Developmental and epileptic encephalopathy 54 |
| metabolic |
HOGA1 |
Hyperoxaluria, primary, type III |
| metabolic |
HPD |
Hawkinsinuria
Tyrosinemia, type III |
| renal |
HSD11B2 |
Apparent mineralocorticoid excess |
| metabolic |
HSD17B10 |
HSD10 mitochondrial disease |
| metabolic |
HSD17B4 |
D-bifunctional protein deficiency
Perrault syndrome 1 |
| endocrine |
HSD3B2 |
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency |
| GI |
HSD3B7 |
Bile acid synthesis defect, congenital, 1 |
| metabolic |
IDUA |
Mucopolysaccharidosis I |
| skeletal |
IFITM5 |
Osteogenesis Imperfecta type V |
| immune |
IFNGR1 |
1. Immunodeficiency 27B, mycobacteriosis
2. Immunodeficiency 27A, mycobacteriosis |
| immune |
IFNGR2 |
Immunodeficiency 28, mycobacteriosis |
| endocrine |
IGF1 |
Insulin-like growth factor I deficiency |
| immune |
IGHM |
Agammaglobulinemia 1 |
| immune |
IGLL1 |
Agammaglobulinemia 2 |
| endocrine |
IGSF1 |
Hypothyroidism, central, and testicular enlargement |
| immune |
IKBKB |
Immunodeficiency 15B |
| GI |
IL10 |
Interleukin-10 deficiency |
| GI |
IL10RA |
Inflammatory bowel disease 28 |
| GI |
IL10RB |
Inflammatory bowel disease 25 |
| immune |
IL2RA |
Immunodeficiency 41 with lymphoproliferation and autoimmunity |
| immune |
IL2RB |
Immunodeficiency 63 with lymphoproliferation and autoimmunity |
| immune |
IL2RG |
SCID X-Linked |
| immune |
IL7R |
Immunodeficiency 104, severe combined |
| endocrine |
INS |
Autosomal dominant diabetes mellitus, permanent neonatal 4 |
| immune |
IRAK4 |
IRAK4 deficiency |
| immune |
IRF8 |
Immunodeficiency 32B |
| endocrine |
IRS4 |
Hypothyroidism, congenital, nongoitrous, 9 |
| hematologic |
ITGA2B |
Glanzmann thrombasthenia 1 |
| immune |
ITGB2 |
Leukocyte adhesion deficiency, type I |
| hematologic |
ITGB3 |
Glanzmann thrombasthenia 2 |
| hematologic |
ITK |
Lymphoproliferative syndrome 2 |
| metabolic |
IVD |
Isovaleric acidemia |
| endocrine |
IYD |
Thyroid dyshormonogenesis 4 |
| immune |
JAK3 |
JAK3 associated T cell-negative, B cell-positive, natural killer cell-negative severe combined immunodeficiency |
| syndromic |
KAT6A |
Arboleda-Tham syndrome |
| CV |
KCNH2 |
Long QT Syndrome 2 |
| renal |
KCNJ1 |
Bartter syndrome, type 2 |
| endocrine |
KCNJ11 |
1. Familial hyperinsulinemic hypoglycemia-2
2. Diabetes, permanent neonatal 2, with or without neurologic features |
| CV |
KCNQ1 |
1. Long QT Syndrome 1
2. Jervell and Lange-Nielsen syndrome |
| neurodevelopmental |
KCNQ2 |
Early infantile epileptic encephalopathy-7 |
| neurodevelopmental |
KCNT1 |
Early infantile epileptic encephalopathy-14 |
| syndromic |
KIF1A |
NESCAV syndrome |
| renal |
KLHL3 |
Pseudohypoaldosteronism, type IID |
| neurodevelopmental |
KMT5B |
Intellectual developmental disorder, autosomal dominant 51 |
| immune |
LAT |
Immunodeficiency 52 |
| immune |
LCK |
immunodeficiency 22 |
| metabolic |
LDLR |
Homozygous Familial hypercholesterolemia-1 |
| metabolic |
LEP |
Leptin deficiency |
| metabolic |
LEPR |
Leptin receptor deficiency |
| endocrine |
LHX3 |
Pituitary hormone deficiency, combined, 3 |
| metabolic |
LIAS |
Hyperglycinemia, lactic acidosis, and seizures |
| immune |
LIG1 |
LIG1 associated immunodeficiency |
| syndromic |
LIG4 |
LIG4 Syndrome |
| metabolic |
LIPA |
Cholesteryl ester storage disease
Wolman disease |
| metabolic |
LMBRD1 |
Methylmalonic aciduria and homocystinuria, cblF type |
| metabolic |
LMF1 |
Lipase deficiency, combined |
| metabolic |
LPL |
Lipoprotein lipase deficiency |
| skeletal |
LRP5 |
Osteoporosis-pseudoglioma syndrome |
| pulmonary |
LRRC56 |
Ciliary dyskinesia, primary, 39 |
| immune |
LYST |
Chediak-Higashi Syndrome |
| renal |
MAGED2 |
Bartter syndrome, type 5, antenatal, transient |
| immune |
MAGT1 |
X-linked Immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia |
| metabolic |
MAT1A |
1. Methionine adenosyltransferase deficiency, autosomal recessive
2. Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency |
| neurodevelopmental |
MBD5 |
Intellectual developmental disorder, autosomal dominant 1 |
| endocrine |
MC2R |
Glucocorticoid deficiency, due to ACTH unresponsiveness |
| metabolic |
MCCC1 |
3-Methylcrotonyl-CoA carboxylase 1 deficiency |
| metabolic |
MCCC2 |
3-Methylcrotonyl-CoA carboxylase 2 deficiency |
| metabolic |
MCEE |
Methylmalonyl-CoA epimerase deficiency |
| pulmonary |
MCIDAS |
Ciliary dyskinesia, primary, 42 |
| immune |
MCM4 |
Immunodeficiency 54 |
| neurodevelopmental |
MECP2 |
Encephalopathy, neonatal severe |
| neurodevelopmental |
MED13 |
Intellectual developmental disorder, autosomal dominant 61 |
| neurodevelopmental |
MED13L |
Impaired intellectual development and distinctive facial features with or without cardiac defects |
| immune |
MEFV |
1.Familial Mediterranean fever, AD
2.Familial Mediterranean fever, AR |
| metabolic |
Mitochondrial genes |
Mitochondrial diseases |
| metabolic |
MLYCD |
Malonyl-CoA decarboxylase deficiency |
| metabolic |
MMAA |
Methylmalonic aciduria, vitamin B12-responsive, cblA type |
| metabolic |
MMAB |
Methylmalonic aciduria, vitamin B12-responsive, cblB type |
| metabolic |
MMACHC |
Methylmalonic aciduria and homocystinuria, cblC type |
| metabolic |
MMADHC |
Methylmalonic aciduria and homocystinuria, cblD type |
| metabolic |
MMUT |
Methylmalonic acidemia, mut(0) type |
| metabolic |
MOCS1 |
Molybdenum cofactor deficiency A |
| metabolic |
MPI |
Congenital disorder of glycosylation, type Ib |
| endocrine |
MRAP |
Glucocorticoid deficiency 2 |
| immune |
MTHFD1 |
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia |
| metabolic |
MTHFR |
Homocystinuria due to MTHFR deficiency |
| metabolic |
MTR |
Homocystinuria-megaloblastic anemia, cblG complementation type |
| metabolic |
MTRR |
Homocystinuria-megaloblastic anemia, cbl E type |
| metabolic |
MTTP |
Abetalipoproteinemia |
| neuromuscular |
MUSK |
Congenital myasthenic syndrome-9 |
| metabolic |
MVK |
Hyper-IgD syndrome / mevalonate kinase deficiciency |
| immune |
MYD88 |
Immunodeficiency 68 |
| neuromuscular |
MYO9A |
Congenital myasthenic syndrome-24 |
| metabolic |
NAGLU |
MPS3B |
| metabolic |
NAGS |
N-acetylglutamate synthase deficiency |
| syndromic |
NBN |
Nijmegen breakage syndrome |
| immune |
NCF2 |
Chronic granulomatous disease 3 |
| immune |
NCF4 |
Chronic granulomatous disease 2 |
| endocrine |
NEUROD1 |
Maturity-onset diabetes of the young 6 |
| GI |
NEUROG3 |
Diarrhea 4, malabsorptive, congenital |
| skin |
NFKBIA |
Ectodermal dysplasia and immunodeficiency 2 |
| metabolic |
NFU1 |
Multiple mitochondrial dysfunctions syndrome 1 |
| immune |
NHEJ1 |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
| neurodevelopmental |
NKX2-1 |
Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
| CV |
NKX2-5 |
ASD, conotruncal heart malformations, hypoplastic left heart syndrome, TOF, VSD, hypothyroidism |
| immune |
NLRP3 |
Cryopyrin associated periodic fever syndrome |
| endocrine |
NNT |
Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency |
| endocrine |
NR0B1 |
Adrenal hypoplasia, congenital |
| endocrine |
NR3C2 |
Pseudohypoaldosteronism type I, autosomal dominant |
| immune |
OAS1 |
OAS1 associated polymorphic autoinflammatory immunodeficiency |
| neurodevelopmental |
OAT |
Gyrate atrophy of choroid and retina with or without ornithinemia |
| pulmonary |
ODAD1 |
Ciliary dyskinesia, primary, 20 |
| pulmonary |
ODAD2 |
Ciliary dyskinesia, primary, 23 |
| pulmonary |
ODAD3 |
Ciliary dyskinesia, primary, 30 |
| pulmonary |
ODAD4 |
Ciliary dyskinesia, primary, 35 |
| metabolic |
OTC |
Ornithine transcarbamylase deficiency |
| hearing |
OTOF |
Auditory neuropathy, autosomal recessive, 1 |
| immune |
OTULIN |
1. Autoinflammation, panniculitis, and dermatosis syndrome
2. {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection} |
| metabolic |
OXCT1 |
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency |
| syndromic |
PACS1 |
Schuurs-Hoeijmakers syndrome |
| metabolic |
PAH |
Phenylketonuria |
| syndromic |
PAX1 |
Otofaciocervical syndrome 2 |
| endocrine |
PAX8 |
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia |
| metabolic |
PC |
Pyruvate carboxylase deficiency |
| metabolic |
PCBD1 |
Hyperphenylalaninemia, BH4-deficient, D |
| metabolic |
PCCA |
Propionic acidemia 1 |
| metabolic |
PCCB |
Propionic acidemia 2 |
| metabolic |
PCSK9 |
Hypercholesterolemia, familial, 3 |
| metabolic |
PEX1 |
1. Peroxisome biogenesis disorder 6A (Zellweger)
2. Peroxisome biogenesis disorder 6B |
| metabolic |
PEX10 |
Peroxisome biogenesis disorder 6A (Zellweger) |
| metabolic |
PEX12 |
1. Peroxisome biogenesis disorder 3A (Zellweger)
2. Peroxisome biogenesis disorder 3B |
| metabolic |
PEX13 |
1. Peroxisome biogenesis disorder 11A (Zellweger)
2. Peroxisome biogenesis disorder 11B |
| metabolic |
PEX14 |
Peroxisome biogenesis disorder 13A (Zellweger) |
| metabolic |
PEX16 |
1. Peroxisome biogenesis disorder 8A
2. ZellwegerPeroxisome biogenesis disorder 8B |
| metabolic |
PEX19 |
Peroxisome biogenesis disorder 12A (Zellweger) |
| metabolic |
PEX2 |
1. Peroxisome biogenesis disorder 5A (Zellweger)
2. Peroxisome biogenesis disorder 5B |
| metabolic |
PEX26 |
1. Peroxisome biogenesis disorder 7A (Zellweger)
2. Peroxisome biogenesis disorder 7B |
| metabolic |
PEX3 |
1. Peroxisome biogenesis disorder 10B
2. Peroxisome biogenesis disorder 10A (Zellweger) |
| metabolic |
PEX5 |
1. Peroxisome biogenesis disorder 2A (Zellweger)
2. Peroxisome biogenesis disorder 2B
3. Rhizomelic chondrodysplasia punctata, type 5 |
| metabolic |
PEX6 |
1. Heimler syndrome 2
2. Peroxisome biogenesis disorder 4A (Zellweger)
3. Peroxisome biogenesis disorder 4B |
| metabolic |
PGM1 |
Congenital disorder of glycosylation, type It |
| metabolic |
PHEX |
Hypophosphatemic rickets, X-linked dominant |
| syndromic |
PHIP |
Chung-Jansen syndrome |
| immune |
PIK3R1 |
Agammaglobulinemia 7 |
| metabolic |
PKLR |
Pyruvate kinase deficiency |
| neurodevelopmental |
PLPBP |
Vitamin B6-dependent epilepsy |
| skeletal |
PLS3 |
Bone mineral density QTL18, osteoporosis |
| endocrine |
PMM2 |
Polycystic kidney disease with hyperinsulinemic hypoglycemia |
| immune |
PNP |
Immunodeficiency due to purine nucleoside phosphorylase deficiency |
| metabolic |
PNPO |
Pyridoxamine 5-prime-phosphate oxidase deficiency |
| syndromic |
POLE |
IMAGE-I syndrome |
| skin |
POLH |
Xeroderma pigmentosum, variant type |
| endocrine |
POMC |
Obesity, adrenal insufficiency, and red hair due to POMC deficiency |
| syndromic |
POR |
cytochrome P450 oxidoreductase deficiency |
| endocrine |
POU1F1 |
Pituitary hormone deficiency, combined or isolated, 1 |
| metabolic |
PPM1K |
Maple syrup urine disease, mild variant |
| skin |
PPOX |
Porphyria variegata, childhood-onset |
| syndromic |
PPP2R5D |
Houge-Janssens syndrome 1 |
| metabolic |
PRDX1 |
Methylmalonic aciduria and homocystinuria, cblC type, digenic |
| neuromuscular |
PREPL |
Congenital myasthenic syndrome-22 |
| hematologic |
PRF1 |
Hemophagocytic lymphohistiocytosis, familial, 2 |
| immune |
PRKDC |
Immunodeficiency 26, with or without neurologic abnormalities |
| endocrine |
PROP1 |
Combined Pituitary hormone deficiency 2 |
| immune |
PSTPIP1 |
PSTPIP1 associated inflammatory disease |
| GI |
PTF1A |
Pancreatic agenesis 2 |
| immune |
PTPRC |
Immunodeficiency 105, severe combined |
| metabolic |
PTS |
Hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency |
| metabolic |
QDPR |
Hyperphenylalaninemia due to dihydropteridine reductase deficiency |
| syndromic |
RAB27A |
Griscelli syndrome, type 2 |
| immune |
RAC2 |
Immunodeficiency 73B |
| immune |
RAG1 |
Severe combined immunodeficiency, B cell-negative |
| immune |
RAG2 |
Severe combined immunodeficiency, B cell-negative |
| neuromuscular |
RAPSN |
Congenital myasthenic syndrome-11 |
| immune |
RASGRP1 |
Immunodeficiency 64 |
| oncological |
RB1 |
Retinoblastoma |
| oncological |
REST |
Wilms tumour predisposition |
| endocrine |
RET |
Multiple endocrine neoplasia II |
| immune |
RFX5 |
Bare lymphocyte syndrome, type II, complementation group C |
| immune |
RFXANK |
Bare lymphocyte syndrome, type II, complementation group B |
| immune |
RFXAP |
Bare lymphocyte syndrome, type II, complementation group D |
| endocrine |
RNPC3 |
RNPC3 associated growth hormone deficiency |
| ophthalmological |
RPE65 |
1. RPE65 associated Leber congenital amaurosis, early-onset severe retinal dystrophy
2. Retinitis pigmentosa 20
3. Retinitis pigmentosa 87 with choroidal involvement |
| hematologic |
RPL11 |
Diamond-Blackfan anemia 7 |
| hematologic |
RPL15 |
Diamond-Blackfan anemia 12 |
| hematologic |
RPL31 |
RPL31 associated Diamond-Blackfan anemia |
| hematologic |
RPL35A |
Diamond-Blackfan anemia 5 |
| hematologic |
RPL5 |
Diamond blackfan anaemia 6 |
| hematologic |
RPS10 |
Diamond-Blackfan anemia 9 |
| hematologic |
RPS17 |
Diamond-Blackfan anemia 4 |
| hematologic |
RPS19 |
Diamond blackfan anaemia 1 |
| hematologic |
RPS24 |
Diamond-blackfan anemia 3 |
| hematologic |
RPS26 |
Diamond-Blackfan anemia 10 |
| hematologic |
RPS7 |
Diamond-Blackfan anemia 8 |
| pulmonary |
RSPH1 |
Ciliary dyskinesia, primary, 24 |
| pulmonary |
RSPH3 |
Ciliary dyskinesia, primary, 32 |
| pulmonary |
RSPH4A |
Ciliary dyskinesia, primary, 11 |
| pulmonary |
RSPH9 |
Ciliary dyskinesia, primary, 12 |
| syndromic |
SAMD9 |
MIRAGE syndrome |
| syndromic |
SAMD9L |
Ataxia pancytopenia syndrome |
| metabolic |
SAR1B |
Chylomicron retention disease |
| hematologic |
SBDS |
Shwachman-Diamond syndrome 1 |
| neurodevelopmental |
SCN1A |
Early infantile epileptic encephalopathy-6 |
| neurodevelopmental |
SCN2A |
Early infantile epileptic encephalopathy-11 |
| neuromuscular |
SCN4A |
Congenital myasthenic syndrome-16 |
| CV |
SCN5A |
Long QT Syndrome 3 |
| neurodevelopmental |
SCN8A |
1. Developmental and epileptic encephalopathy 13
2. Seizures, benign familial infantile, 5 |
| renal |
SCNN1A |
Pseudohypoaldosteronism Type IB1 |
| renal |
SCNN1B |
(Liddle syndrome 1)
Pseudohypoaldosteronism Type IB2 |
| renal |
SCNN1G |
(Liddle syndrome 2)
Pseudohypoaldosteronism Type IB3 |
| metabolic |
SERAC1 |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| immune |
SERPING1 |
Hereditary angioedema, 1 and 2 |
| neurodevelopmental |
SETBP1 |
1. Intellectual developmental disorder, autosomal dominant 29
2. Schinzel-Giedion midface retraction syndrome |
| renal |
SGPL1 |
Nephrotic syndrome, type 14 |
| metabolic |
SGSH |
MPS3A |
| hematologic |
SH2D1A |
X-linked lymphoproliferative syndrome 1 |
| metabolic |
SI |
Congenital sucrase-isomaltase deficiency |
| syndromic |
SKIV2L |
Trichohepatoenteric syndrome 2 |
| renal |
SLC12A1 |
Bartter syndrome, type 1 |
| syndromic |
SLC16A2 |
Allan-Herndon-Dudley syndrome |
| neuromuscular |
SLC18A3 |
Congenital myasthenic syndrome-21 |
| hematologic |
SLC19A1 |
Megaloblastic anemia, folate-responsive |
| hematologic |
SLC19A2 |
Thiamine Repsonsive Megaloblastic Anaemia Syndrome |
| metabolic |
SLC19A3 |
Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) |
| metabolic |
SLC22A5 |
Primary systemic carnitine deficiency |
| neuromuscular |
SLC25A1 |
Congenital myasthenic syndrome-23 |
| metabolic |
SLC25A13 |
Citrullinemia, type II, neonatal-onset |
| metabolic |
SLC25A15 |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| metabolic |
SLC25A20 |
Carnitine-acylcarnitine translocase deficiency |
| GI |
SLC26A3 |
Diarrhea 1, secretory chloride, congenital |
| hearing |
SLC26A4 |
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
Pendred syndrome |
| endocrine |
SLC26A7 |
Thyroid dyshormonigenesis (no phenotype on OMIM) |
| metabolic |
SLC2A1 |
1. GLUT1 deficiency syndrome-1, infantile onset, severe
2. GLUT1 deficiency syndrome-2, childhood onset |
| metabolic |
SLC30A10 |
Hypermanganesemia with dystonia 1 |
| metabolic |
SLC34A3 |
Hypophosphatemic rickets with hypercalciuria |
| metabolic |
SLC37A4 |
Glycogen storage disease Ib and 1c |
| skin |
SLC39A4 |
Acrodermatitis enteropathica |
| immune |
SLC39A7 |
SLC39A7 associated agammaglobulinemia |
| metabolic |
SLC46A1 |
Hereditary folate malabsorption |
| renal |
SLC4A1 |
1. Distal renal tubular acidosis 1
2. Distal renal tubular acidosis 4 with hemolytic anemia |
| syndromic |
SLC52A2 |
Brown-Vialetto-Van Laere syndrome 2 |
| syndromic |
SLC52A3 |
Brown-Vialetto-Van Laere syndrome 1 |
| metabolic |
SLC5A1 |
Glucose/galactose malabsorption |
| endocrine |
SLC5A5 |
Thyroid dyshormonigenesis 1 |
| neuromuscular |
SLC5A7 |
Congenital myasthenic syndrome-20 |
| neurodevelopmental |
SLC6A1 |
Myoclonic-atonic epilepsy |
| neurodevelopmental |
SLC6A9 |
Glycine encephalopathy with normal serum glycine |
| metabolic |
SLC7A7 |
Lysinuric protein intolerance |
| GI |
SLC9A3 |
Diarrhea 8, secretory sodium, congenital |
| neurodevelopmental |
SLC9A6 |
Intellectual developmental disorder, X-linked syndromic, Christianson type |
| immune |
SMARCD2 |
Specific granule deficiency 2 |
| skeletal |
SNX10 |
Osteopetrosis type 8 |
| immune |
SP110 |
Hepatic venoocclusive disease with immunodeficiency |
| pulmonary |
SPAG1 |
Ciliary dyskinesia, primary, 28 |
| GI |
SPINT2 |
Diarrhea 3, secretory sodium, congenital, syndromic |
| metabolic |
SPR |
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency |
| hematologic |
SRP54 |
SRP54 associated Shwachman-Diamond syndrome |
| endocrine |
STAR |
Lipoid adrenal hyperplasia |
| immune |
STAT1 |
(Immunodeficiency 31A)
Immunodeficiency 31B
(Immunodeficiency 31C) |
| immune |
STK4 |
STK4 associated T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations |
| hematologic |
STX11 |
Hemophagocytic lymphohistiocytosis, familial, 4 |
| neurodevelopmental |
STXBP1 |
Developmental and epileptic encephalopathy 4 |
| hematologic |
STXBP2 |
Familial hemophagocytic lymphohistiocytosis-5 |
| metabolic |
SUCLA2 |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
| metabolic |
SUCLG1 |
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) |
| neurodevelopmental |
SYNGAP1 |
Intellectual developmental disorder, autosomal dominant 5 |
| neuromuscular |
SYT2 |
1. Congenital myasthenic syndrome 7 (4A)
2. Congenital myasthenic syndrome 7 (4B) |
| syndromic |
TAFAZZIN |
Barth Syndrome |
| metabolic |
TAT |
Tyrosinemia, type II |
| endocrine |
TBL1X |
Hypothyroidism, congenital, nongoitrous, 8 |
| endocrine |
TBX19 |
Adrenocorticotropic hormone deficiency |
| immune |
TCF3 |
Agammaglobulinemia 8 |
| skeletal |
TCIRG1 |
Osteopetrosis type 1 |
| metabolic |
TCN2 |
Transcobalamin II deficiency |
| CV |
TECRL |
Ventricular tachycardia, catecholaminergic polymorphic, 3 |
| hematologic |
TF |
Atransferrinaemia |
| endocrine |
TG |
Thyroid dyshormonogenesis 3 |
| metabolic |
TH |
Dopa-responsive dystonia due to tyrosine hydroxylase deficiency |
| endocrine |
THRA |
Resistance to thyroid hormone alpha (OMIM: Hypothyroidism, congenital, nongoitrous, 6) |
| endocrine |
THRB |
Thyroid hormone resistance |
| skeletal |
TNFRSF11A |
Osteopetrosis type 7 |
| syndromic |
TNFRSF1A |
Tumor necrosis factor receptor associated periodic fever syndrome |
| metabolic |
TPK1 |
Thiamine metabolism dysfunction syndrome 5 |
| endocrine |
TPO |
Thyroid dyshormonogenesis 2A |
| metabolic |
TPP1 |
Ceroid lipofuscinosis, neuronal, 2 |
| CV |
TRDN |
Cardiac arrhythmia syndrome, with or without skeletal muscle weakness |
| endocrine |
TRHR |
Hypothyroidism, congenital, nongoitrous, 7 |
| oncological |
TRIM28 |
TRIM28 related Wilms tumor |
| neurodevelopmental |
TRIO |
1. Intellectual developmental disorder, autosomal dominant 44, with microcephaly
2. Intellectual developmental disorder, autosomal dominant 63, with macrocephaly |
| metabolic |
TRPM6 |
Hypomagnesemia 1, intestinal |
| endocrine |
TSHB |
Hypothyroidism, congenital, nongoitrous 4 |
| endocrine |
TSHR |
Hypothyroidism, congenital, nongoitrous, 1 |
| syndromic |
TTC37 |
Trichohepatoenteric syndrome 1 |
| immune |
TTC7A |
Gastrointestinal defects and immunodeficiency syndrome |
| neurodevelopmental |
TTPA |
Ataxia with vitamin E deficiency |
| GI |
UGT1A1 |
Crigler-Najjar syndrome Type I |
| hematologic |
UNC13D |
Hemophagocytic lymphohistiocytosis, familial, 3 |
| GI |
UROD |
Porphyria, hepatoerythropoietic |
| hematologic |
UROS |
Congenital erythropoietic porphyria |
| neurodevelopmental |
USP9X |
Intellectual developmental disorder, X-linked 99 |
| neuromuscular |
VAMP1 |
Congenital myasthenic syndrome-25 |
| endocrine |
VDR |
Rickets, vitamin D-resistant, type IIA |
| immune |
WAS |
Wiskott Aldrich syndrome |
| neurodevelopmental |
WNK1 |
Neuropathy, hereditary sensory and autonomic, type II |
| oncological |
WT1 |
Wilms Tumour type 1/ Denys-Drash syndrome |
| hematologic |
XIAP |
X-linked lymphoproliferative syndrome 2 |
| skin |
XPA |
Xeroderma pigmentosum, group A |
| skin |
XPC |
Xeroderma pigmentosum, group C |
| immune |
ZAP70 |
Immunodeficiency 48 |
| immune |
ZBTB24 |
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
| pulmonary |
ZMYND10 |
Ciliary dyskinesia, primary, 22 |
