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Metadata
ID	DOID:0111746
Name	cerebellar ataxia type 48
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
Xrefs	OMIM:618093
Synonyms	SCA48 [EXACT]
Parent Relationships	is_a autosomal dominant cerebellar ataxia