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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
Ataxia with vitamin E deficiency
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
Ataxia-oculomotor apraxia 3
Ataxia-oculomotor apraxia 4
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia-like disorder
Autosomal recessive Dejerine-Sottas syndrome
Basal ganglia disease, biotin-responsive
Benign familial neonatal-infantile seizures
Benign hereditary chorea
Beta-hydroxyisobutyryl-CoA deacylase deficiency
Bile acid synthesis defect, congenital, 3
Biotinidase deficiency
Brown-Vialetto-Van Laere syndrome
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 autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral creatine deficiency syndrome
Cerebral folate deficiency
Cerebroretinal microangiopathy with calcifications and cysts 1
Charcot-Marie-Tooth disease
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, and Neuropathy
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
Dementia, familial Danish
Dyskeratosis congenita
Dystonia
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Early infantile epileptic encephalopathy
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
Encephalopathy, progressive, with amyotrophy and optic atrophy
Epilepsy, progressive myoclonic 2b
Epilepsy, progressive myoclonic 3
Epilepsy, progressive myoclonic 4, with or without renal failure
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NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.
