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

• OMIM:618093

Ontology

Human Disease   ( DOID:0111746 )