Term Name: | cerebellar ataxia type 48 |
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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. |
Ontology: | Human Disease [DOID:0111746] ( DOID:0111746 ) |