| Term Name: | spinocerebellar ataxia type 27B |
|---|---|
| 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 ) |