Term Name: cerebellar ataxia type 48
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 )

Relationships
is a type of: autosomal dominant cerebellar ataxia