Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111742 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models