At a Glance
Methylcrotonyl-CoA carboxylase deficiency;
3-M syndrome;
3-Methylglutaconic aciduria type 2
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Methylcrotonyl-CoA carboxylase deficiency
3-M syndrome
3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 3
Abetalipoproteinaemia
Achondrogenesis, type IB
Achromatopsia
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Acyl-CoA oxidase deficiency
Adrenoleukodystrophy
Agenesis of the corpus callosum with peripheral neuropathy
Aicardi Goutieres syndrome
Allan-Herndon-Dudley syndrome
Alpha thalassemia-X-linked intellectual disability syndrome
Alpha-N-acetylgalactosaminidase deficiency type 1
Alport syndrome
Alstrom syndrome
Angiokeratoma corporis diffusum
Arginase deficiency
Argininosuccinate lyase deficiency
Arterial tortuosity syndrome
Aspartylglucosaminuria
Ataxia-telangiectasia syndrome
Atelosteogenesis type II
Atransferrinemia
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive congenital ichthyosis
Autosomal recessive limb-girdle muscular dystrophy type 2M
Bardet-Biedl syndrome
Bartter syndrome
Batten-Turner congenital myopathy
Becker muscular dystrophy
Beta-D-mannosidosis
Bifunctional peroxisomal enzyme deficiency
Biotin-responsive basal ganglia disease
Biotinidase deficiency
Bloom syndrome
Brittle cornea syndrome
Cardio-facio-cutaneous syndrome
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyl transferase 1A deficiency
Carnitine palmitoyltransferase II deficiency
Carpenter syndrome
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
Centronuclear myopathy
Cerebellar hypoplasia
Cerebral creatine deficiency syndrome
Charlevoix-Saguenay spastic ataxia
Cholestanol storage disease
Chorea-acanthocytosis
Chronic granulomatous disease
Chédiak-Higashi syndrome
Ciliopathy
Citrullinemia
Coats plus syndrome
Cockayne syndrome
Coffin-Lowry syndrome
Cohen syndrome
Cold-induced sweating syndrome
Cold-induced sweating syndrome 1
Combined deficiency of sialidase AND beta galactosidase
Combined malonic and methylmalonic acidemia
Combined molybdoflavoprotein enzyme deficiency
Combined oxidative phosphorylation deficiency
Combined pituitary hormone deficiencies, genetic form
Complex V deficiency
Congenital adrenal hyperplasia
Congenital adrenal hypoplasia
Congenital amegakaryocytic thrombocytopenia
Congenital defect of folate absorption
Congenital disorder of deglycosylation
Congenital disorder of glycosylation
Congenital generalized lipodystrophy
Congenital hyperammonemia, type I
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Congenital myasthenic syndrome
Corneal dystrophy-perceptive deafness syndrome
Cortical dysplasia-focal epilepsy syndrome
Costello syndrome
Cryptophthalmos syndrome
Cutis laxa
Cystic fibrosis
Cystinosis
Danon disease
Deficiency of 2-methylbutyryl-CoA dehydrogenase
Deficiency of acetyl-CoA acetyltransferase
Deficiency of alpha-mannosidase
Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of hyaluronoglucosaminidase
Deficiency of hydroxymethylglutaryl-CoA lyase
Deficiency of mevalonate kinase
Dent disease
Diastrophic dysplasia
Dihydropyrimidine dehydrogenase deficiency
Dilated cardiomyopathy 3B
Distal spinal muscular atrophy
Donnai-Barrow syndrome
Duchenne muscular dystrophy
Dyskeratosis congenita
Early infantile epileptic encephalopathy with suppression bursts
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome, dermatosparaxis type
Ellis-van Creveld syndrome
Emery-Dreifuss muscular dystrophy
Epidermolysis bullosa dystrophica
Ethylmalonic encephalopathy
Familial Mediterranean fever
Familial dysautonomia
Familial hemophagocytic lymphohistiocytosis
Familial hyperinsulinism
Familial isolated deficiency of vitamin E
Fanconi anemia
Fragile X syndrome
GM1 gangliosidosis
GNE myopathy
GNPTG-mucolipidosis
GRACILE syndrome
Galactose intolerance
Galactosylceramide beta-galactosidase deficiency
Gaucher disease
Glucocorticoid deficiency with achalasia
Glutaric aciduria, type 1
Gluthathione synthetase deficiency
Glycogen phosphorylase kinase deficiency
Glycogen storage disease type III
Glycogen storage disease, type I
Glycogen storage disease, type II
Glycogen storage disease, type IV
Glycogen storage disease, type V
Glycogen storage disease, type VII
HSD10 mitochondrial disease
Hemophilia B, Factor IX Deficiency
Hepatic veno-occlusive disease-immunodeficiency syndrome
Hereditary acrodermatitis enteropathica
Hereditary fructosuria
Hereditary insensitivity to pain with anhidrosis
Hereditary pulmonary alveolar proteinosis
Hereditary spastic paraplegia
Hermansky-Pudlak syndrome
Histiocytic medullary reticulosis
Holocarboxylase synthetase deficiency
Homocystinuria
Hyaline fibromatosis syndrome
Hydrocephalus, nonsyndromic, autosomal recessive 1
Hydrolethalus syndrome
Hyper-IgM syndrome type 1
Hyperammonemia, type III
Hyperimmunoglobulin M syndrome
Hyperlipoproteinemia, type I
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Hypohidrotic ectodermal dysplasia
Hypomyelination and Congenital Cataract
Hypophosphatasia
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Intellectual disability
Isovaleryl-CoA dehydrogenase deficiency
Jeune thoracic dystrophy
Joubert syndrome and related disorders
Junctional epidermolysis bullosa
Juvenile hemochromatosis
Juvenile retinoschisis
L1 syndrome
LAMA2-related muscular dystrophy
Leber congenital amaurosis
Legius syndrome
Leigh syndrome
Lethal arthrogryposis-anterior horn cell disease syndrome
Limb-girdle muscular dystrophy
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal acid lipase deficiency
MHC class II deficiency
Macular corneal dystrophy
Maple syrup urine disease
Meckel-Gruber syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Megalencephalic leukoencephalopathy with subcortical cysts 1
Menkes kinky-hair syndrome
Metachromatic leukodystrophy
Metaphyseal chondrodysplasia, McKusick type
Methylmalonic acidemia
Methylmalonic aciduria and homocystinuria
Microcephaly, normal intelligence and immunodeficiency
Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial complex I deficiency
Mitochondrial complex deficiency
Mitochondrial trifunctional protein deficiency
Mucolipidosis type II
Mucolipidosis type IV
Mucopolysaccharidosis type 1
Mucopolysaccharidosis type 6
Mucopolysaccharidosis type 7
Mucopolysaccharidosis, MPS-II
Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-B
Multiple acyl-CoA dehydrogenase deficiency
Multiple epiphyseal dysplasia type 4
Multiple pterygium syndrome
Multiple sulfatase deficiency
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Myopathy, lactic acidosis, and sideroblastic anemia
Nemaline myopathy
Nephrogenic diabetes insipidus
Nephrotic syndrome
Neurodegeneration with brain iron accumulation
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type A
Niemann-Pick disease, type B
Niemann-Pick disease, type C
Non-ketotic hyperglycinemia
Nonsyndromic genetic hearing loss
Noonan syndrome
Noonan syndrome with multiple lentigines
Oculocutaneous albinism
Opitz G/BBB syndrome
Ornithine aminotransferase deficiency
Ornithine carbamoyltransferase deficiency
Osteogenesis imperfecta
Osteopetrosis
PHGDH deficiency
POLG-Related Spectrum Disorders
Pelizaeus-Merzbacher disease
Pendred syndrome
Peroxisome biogenesis disorder
Phenylketonuria
Pigmentary pallidal degeneration
Polycystic kidney dysplasia
Polyglandular autoimmune syndrome, type 1
Polymicrogyria
Pontoneocerebellar hypoplasia
Primary congenital glaucoma
Primary hyperoxaluria
Primary microcephaly
Progressive familial intrahepatic cholestasis
Progressive pseudorheumatoid dysplasia
Propionic acidemia
Pseudocholinesterase deficiency
Pyknodysostosis
Pyridoxal phosphate-responsive seizures
Pyridoxine-dependent epilepsy
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase E3 deficiency
Pyruvate dehydrogenase complex deficiency
Qualitative or quantitative defects of dystrophin
Renal carnitine transport defect
Renal tubular acidosis with progressive nerve deafness
Retinitis pigmentosa
Rhizomelic chondrodysplasia punctata
Roberts syndrome
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schimke immuno-osseous dysplasia
Severe combined immunodeficiency disease
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Severe congenital neutropenia
Sialidosis
Sickle cell disease and related diseases
Sjögren-Larsson syndrome
Smith-Lemli-Opitz syndrome
Spinal muscular atrophy
Spinocerebellar ataxia type 10
Spondylocostal dysostosis 2, autosomal recessive
Spongy degeneration of central nervous system
Stuve-Wiedemann syndrome
Sulfite oxidase deficiency
Tay-Sachs disease
Trichohepatoenteric syndrome
Trimethylaminuria
Tyrosine hydroxylase deficiency
Tyrosinemia type I
Tyrosinemia type II
Tyrosinemia type III
Usher syndrome
Vanishing white matter disease
Very long chain acyl-CoA dehydrogenase deficiency
Vitamin D-dependent rickets
Walker-Warburg congenital muscular dystrophy
Werner syndrome
Wilson disease
Wiskott-Aldrich syndrome
X-linked agammaglobulinemia
X-linked severe combined immunodeficiency
Xeroderma pigmentosum
Zellweger spectrum disorders
alpha Thalassemia
beta Thalassemia
AAAS (12q13.13);
ABCA12 (2q35);
ABCA3 (16p13.3);
ABCB11 (2q31.1);
ABCB4 (7q21.12)
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Total conditions: 292
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