Metadata | |
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ID | DOID:0111742 |
Name | cerebellar ataxia type 42 |
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 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
SCA42 [EXACT] |
Parent Relationships |