OBO ID: DOID:0111742
Term Name: cerebellar ataxia type 42 Search Ontology:
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 cerebellar ataxia type 42 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CACNA1G Spinocerebellar ataxia 42 616795
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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