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 )

Relationships
is a type of: autosomal dominant cerebellar ataxia