cerebellar ataxia type 42 (DOID:0111742)
Alliance: disease page
Synonyms: SCA42
Alt IDs: OMIM:616795, ORDO:458803
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.