| Term Name: | cerebellar ataxia type 42 |
|---|---|
| Synonyms: | SCA42 |
| Definition: | An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21. |
| Ontology: | Human Disease [DOID:0111742] ( DOID:0111742 ) |