spinocerebellar ataxia type 27B

Term ID

DOID:0061137

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. https://pubmed.ncbi.nlm.nih.gov/36516086/

References

• MIM:620174

Ontology

Human Disease   ( DOID:0061137 )