DISEASES

Disease-gene associations mined from literature

Human genes for cerebellar ataxia type 42

Cerebellar ataxia type 42 [DOID:0111742]

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.

Synonyms:  cerebellar ataxia type 42,  DOID:0111742,  SCA42