| 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 | |
| Synonyms |
SCA48 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some ataxia |