spinocerebellar ataxia type 27

Term ID

DOID:0050976

Synonyms

• congenital nystagmus 4

Definition

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. https://rarediseases.info.nih.gov/diseases/9963/spinocerebellar-ataxia-27

References

• GARD:9603
• OMIM:193003

Ontology

Human Disease   ( DOID:0050976 )