Term Name: | spinocerebellar ataxia type 27B |
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Synonyms: | SCA27B |
Definition: | An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14 gene on chromosome 13q33. |
Ontology: | Human Disease [DOID:0061137] ( DOID:0061137 ) |