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cerebellar ataxia type 42
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant cerebellar ataxia
External Links
- Disease Ontology
- DOID:0111742
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
