Term Name:	spinocerebellar ataxia type 27A
Synonyms:	congenital nystagmus 4, SCA27A, spinocerebellar ataxia type 27
Definition:	An autosomal dominant cerebellar ataxia that is characterized by general cerebellar dysfunction manifest as gait disturbances, ataxia, tremor, dysarthria, and gaze-evoked nystagmus 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.
Ontology:	Human Disease [DOID:0050976]   ( DOID:0050976 )