Term Name: | cerebellar ataxia type 42 |
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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. |
Ontology: | Human Disease [DOID:0111742] ( DOID:0111742 ) |