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Metadata
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

OMIM:616795

ORDO:458803

Subsets

DO_rare_slim

Synonyms

SCA42 [EXACT]

Parent Relationships

is_a autosomal dominant cerebellar ataxia

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