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Human Disease

cerebellar ataxia type 48

Term ID
DOID:0111746
Synonyms
  • SCA48
Definition
An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3. https://www.ncbi.nlm.nih.gov/pubmed/30381368
References
Ontology
Human Disease   ( DOID:0111746 )
Relationships
is a type of
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Genes Involved
Zebrafish Models