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 )

Relationships
is a type of: autosomal dominant cerebellar ataxia