At a Glance
Ataxia;
3-Methylglutaconic aciduria type 1;
ADan amyloidosis
more...
⨉
Ataxia
3-Methylglutaconic aciduria type 1
ADan amyloidosis
Adenylosuccinate lyase deficiency
Adrenoleukodystrophy
Alexander Disease
Allan-Herndon-Dudley syndrome
Alpha mannosidosis type II
Alpha-methylacyl-CoA racemase deficiency
Alternating hemiplegia of childhood
Alzheimer disease, type 3
Amyotrophic lateral sclerosis type 1
Angelman syndrome
Aniridia 1
Aqueductal stenosis, X-linked, Hydrocephalus due to congenital stenosis of aqueduct of sylvius, X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius, X-linked hydrocephalus
Argininosuccinate lyase deficiency
Arthrogryposis, distal, with impaired proprioception and touch
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
Ataxia-oculomotor apraxia 3
Ataxia-oculomotor apraxia 4
Ataxia-oculomotor apraxia type 1
Ataxia-pancytopenia syndrome
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia-like disorder
Autosomal recessive Dejerine-Sottas syndrome
Benign familial neonatal-infantile seizures
Benign hereditary chorea
Beta-hydroxyisobutyryl-CoA deacylase deficiency
Bile acid synthesis defect, congenital, 3
Biotin-responsive basal ganglia disease
Biotinidase deficiency
Brown-Vialetto-Van Laere syndrome
CARASIL
CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
Cerebellar ataxia and hypergonadotropic hypogonadism
Cerebellar ataxia, Cayman type
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
Cerebellar ataxia, nonprogressive, with mental retardation
Cerebral creatine deficiency syndrome
Cerebral folate deficiency
Cerebroretinal microangiopathy with calcifications and cysts
Charcot-Marie-Tooth disease
Charlevoix-Saguenay spastic ataxia
Cholestanol storage disease
Christianson syndrome
Citrullinemia type I
Cockayne syndrome
Coenzyme Q10 deficiency, primary
Cognitive impairment with or without cerebellar ataxia
Combined oxidative phosphorylation deficiency
Combined oxidative phosphorylation deficiency 14
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Congenital cerebellar hypoplasia
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Congenital defect of folate absorption
Congenital disorder of glycosylation
Congenital generalized lipodystrophy type 2
Congenital hyperammonemia, type I
Cortical dysplasia, complex, with other brain malformations 6
Craniosynostosis 6
Cytochrome c oxidase i deficiency
Dandy-Walker syndrome
Dyskeratosis congenita
Dystonia
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
EAST syndrome
Early infantile epileptic encephalopathy
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1
Encephalopathy, progressive, with amyotrophy and optic atrophy
Epilepsy, progressive myoclonic 2b
Epilepsy, progressive myoclonic 3
Epilepsy, progressive myoclonic 4, with or without renal failure
Epilepsy, progressive myoclonic 5
Epilepsy, progressive myoclonic 6
Epilepsy, progressive myoclonic 7
Epilepsy, progressive myoclonic, 10
Epilepsy, progressive myoclonic, 9
Epileptic encephalopathy Lennox-Gastaut type
Epileptic encephalopathy, childhood-onset
Episodic ataxia
Ethylmalonic encephalopathy
Familial hemiplegic migraine
Familial hemophagocytic lymphohistiocytosis
Familial isolated deficiency of vitamin E
Fragile X tremor/ataxia syndrome
Friedreich ataxia 1
Friedreich ataxia 2
Friedreich's ataxia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
GM1 gangliosidosis
Galactosialidosis, adult
Galactosylceramide beta-galactosidase deficiency
Galloway-Mowat syndrome 1
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
Gaucher disease, atypical, due to saposin C deficiency
Generalized epilepsy with febrile seizures plus, type 2
Giant axonal neuropathy 1
Glucocorticoid deficiency with achalasia
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to
Glycogen storage disease, type IV
Gordon Holmes syndrome
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
Hereditary acrodermatitis enteropathica
Hereditary amyloidosis
Hereditary hyperferritinemia with congenital cataracts
Holocarboxylase synthetase deficiency
Hydrolethalus syndrome 2
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency
Hypobetalipoproteinemia
Hypoceruloplasminemia
Hypotonia, ataxia, and delayed development syndrome
Ichthyosis, spastic quadriplegia, and mental retardation
Idiopathic basal ganglia calcification 1
Immunodeficiency 23
Infantile cerebellar-retinal degeneration
Infantile convulsions and choreoathetosis
Infantile neuroaxonal dystrophy
Infantile-onset ascending hereditary spastic paralysis
Isolated sulfite oxidase deficiency
Joubert syndrome
Knobloch syndrome 1
Kohlschutter's syndrome
Kufor-Rakeb syndrome
L-2-hydroxyglutaric aciduria
Leigh syndrome
Leukodystrophy
Leukoencephalopathy
Leukoencephalopathy with ataxia
Leukoencephalopathy with vanishing white matter
Leukoencephalopathy, cystic, without megalencephaly
Leukoencephalopathy, progressive, with ovarian failure
Lichtenstein-knorr syndrome
Lig4 syndrome
Limb-girdle muscular dystrophy
Lipodystrophy, congenital generalized, type 3
Lissencephaly
MERRF syndrome
Macrocephaly, dysmorphic facies, and psychomotor retardation
Maple syrup urine disease
Marinesco-Sjögren syndrome
Mast syndrome
Meckel-Gruber syndrome
Megalencephalic leukoencephalopathy with subcortical cysts
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance
Mental retardation and microcephaly with pontine and cerebellar hypoplasia
Mental retardation, X-linked, syndromic, Bain type
Mental retardation, autosomal dominant 1
Mental retardation, autosomal dominant 13
Mental retardation, autosomal dominant 40
Mental retardation, autosomal recessive 53
Metachromatic leukodystrophy
Methylmalonic aciduria, cblD type, variant 2
Mevalonic aciduria
Microcephaly with Polymicrogyria
Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 8B (MNGIE type)
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
Mitochondrial complex I deficiency
Mitochondrial complex II deficiency
Mitochondrial complex III deficiency, nuclear type 1
Mitochondrial diseases
Multiple sulfatase deficiency
Muscular dystrophy-dystroglycanopathy
Muscular hypotonia
Myasthenic syndrome, congenital, 18
Myoclonic epilepsy, familial infantile
Myoclonic-atonic epilepsy
Myoclonus, familial 1
N-acetylaspartate deficiency
Navajo neurohepatopathy
Nephronophthisis
Nephronophthisis 12
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Neurodegeneration with brain iron accumulation
Neurofibromatosis, type 2
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
Neuronal ceroid lipofuscinosis
Neuropathy, congenital hypomyelinating, autosomal dominant
Neuropathy, hereditary motor and sensory, type 6B
Neutral 1 amino acid transport defect
Oculodentodigital dysplasia
Optic atrophy
Optic atrophy 10 with or without ataxia, mental retardation, and seizures
Optic atrophy 11
Ornithine carbamoyltransferase deficiency
Orofaciodigital syndrome I
Paroxysmal non-kinesigenic dyskinesia
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
Pelizaeus-Merzbacher disease
Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Peroxisome biogenesis disorders
Perrault syndrome 1
Perrault syndrome 3
Pettigrew syndrome
Phosphoglycerate kinase 1 deficiency
Phosphoribosylpyrophosphate synthetase superactivity
Pitt-Hopkins syndrome
Polyarteritis nodosa, childhoood-onset
Polyendocrine-polyneuropathy syndrome
Polymicrogyria, bilateral frontoparietal
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Pontoneocerebellar hypoplasia
Poretti-Boltshauser syndrome
Posterior column ataxia-retinitis pigmentosa syndrome
Primary autosomal recessive microcephaly 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Progressive myoclonic epilepsy
Purine-nucleoside phosphorylase deficiency
Pyruvate dehydrogenase complex deficiency
Refsum disease, adult, 1
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Rett syndrome
Rett syndrome, congenital variant
Riddle syndrome
Rigidity and multifocal seizure syndrome, lethal neonatal
Salla disease
Sandhoff disease
Sclerosteosis 2
Segawa syndrome, autosomal recessive
Seizures, benign familial neonatal, 3
Severe myoclonic epilepsy in infancy
Short stature, microcephaly, and endocrine dysfunction
Sialidosis type I
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Spastic ataxia
Spastic paraplegia
Spastic paraplegia 79, autosomal recessive
Spastic paraplegia and psychomotor retardation with or without seizures
Spastic paraplegia, intellectual disability, nystagmus, and obesity
Sphingomyelin/cholesterol lipidosis
Spinocerebellar ataxia 35
Spinocerebellar ataxia 38
Spinocerebellar ataxia 40
Spinocerebellar ataxia 41
Spinocerebellar ataxia 42
Spinocerebellar ataxia 43
Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 11
Spinocerebellar ataxia type 13
Spinocerebellar ataxia type 14
Spinocerebellar ataxia type 16
Spinocerebellar ataxia type 19/22
Spinocerebellar ataxia type 21
Spinocerebellar ataxia type 23
Spinocerebellar ataxia type 26
Spinocerebellar ataxia type 27
Spinocerebellar ataxia type 28
Spinocerebellar ataxia type 31
Spinocerebellar ataxia type 5
Spinocerebellar ataxia, X-linked 1
Spinocerebellar ataxia, autosomal recessive 10
Spinocerebellar ataxia, autosomal recessive 11
Spinocerebellar ataxia, autosomal recessive 12
Spinocerebellar ataxia, autosomal recessive 13
Spinocerebellar ataxia, autosomal recessive 15
Spinocerebellar ataxia, autosomal recessive 16
Spinocerebellar ataxia, autosomal recessive 17
Spinocerebellar ataxia, autosomal recessive 18
Spinocerebellar ataxia, autosomal recessive 2
Spinocerebellar ataxia, autosomal recessive 20
Spinocerebellar ataxia, autosomal recessive 21
Spinocerebellar ataxia, autosomal recessive 22
Spinocerebellar ataxia, autosomal recessive 23
Spinocerebellar ataxia, autosomal recessive 24
Spinocerebellar ataxia, autosomal recessive 8
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
Striatonigral degeneration infantile
Subcortical laminar heterotopia, X-linked
Succinate-semialdehyde dehydrogenase deficiency
Syndromic X-linked mental retardation, Cabezas type
Tay-Sachs disease
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
Transcolabamin II deficiency
Troyer syndrome
Urocanate hydratase deficiency
Usher syndrome, type 3B
Wilson disease
Wolfram syndrome
X-linked sideroblastic anemia with ataxia
Xeroderma pigmentosum
You-Hoover-Fong syndrome
AAAS (12q13.13);
AARS2 (6p21.1);
ABCB7 (Xq13.3);
ABCD1 (Xq28);
ABHD12 (20p11.21)
more...
Conditions
Help
Total conditions: 289
Condition/Phenotype
Identifier
Methodology
Total methods: 0
Method Category
Help
Test method
Help
Instrument *
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
