Neurodegeneration with brain iron accumulation 8

Preferred Label : Neurodegeneration with brain iron accumulation 8;

Symbol : NBIA8;

CISMeF acronym : NBIA8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the carnitine acetyltransferase gene (CRAT, 600184.0001);

Prefixed ID : #617917;

Details

Origin ID

617917;

UMLS CUI

C4693587;

Genes related to phenotype
- Carnitine acetyltransferase [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Delayed speech and language development [HPO term]
- Dysmetria [HPO term]
- Generalized hypotonia [HPO term]
- Hyperreflexia [HPO term]
- Loss of ability to walk [HPO term]
- Motor delay [HPO term]
- Progressive [HPO term]
- Sensory neuropathy [HPO term]
- Tremor [HPO term]
- Unsteady gait [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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