spinocerebellar ataxia type 27A

Term ID

DOID:0050976

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. https://pubmed.ncbi.nlm.nih.gov/32162847/

References

• GARD:9603
• MIM:193003

Ontology

Human Disease   ( DOID:0050976 )