cerebellar ataxia type 42

Term ID

DOID:0111742

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. https://www.ncbi.nlm.nih.gov/pubmed/26456284

References

• MIM:616795
• ORDO:458803

Ontology

Human Disease   ( DOID:0111742 )