| Metadata | |
|---|---|
| ID | DOID:0111745 |
| Name | cerebellar ataxia type 43 |
| Definition | An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. https://www.ncbi.nlm.nih.gov/pubmed/27583304 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
SCA43 [EXACT] |
| Parent Relationships |