Human genes for spinocerebellar ataxia type 27
Spinocerebellar ataxia type 27 [DOID:0050976]
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome.
Synonyms: spinocerebellar ataxia type 27, DOID:0050976, autosomal dominant congenital nystagmus 4, congenital nystagmus 4, vestibulocerebellar disorder with predominant ocular signs ...