| Metadata | |
|---|---|
| ID | DOID:0111743 |
| Name | cerebellar ataxia type 47 |
| Definition | An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. https://www.ncbi.nlm.nih.gov/pubmed/29474920 |
| Xrefs | |
| Synonyms |
PUM1-associated developmental disability-ataxia-seizure syndrome [EXACT] SCA47 [EXACT] |
| Parent Relationships |