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DOID:0050976 - spinocerebellar ataxia type 27A
Disease Ontology 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.
Synonyms: congenital nystagmus 4, vestibulocerebellar disorder with predominant ocular signs, autosomal dominant congenital nystagmus 4, SCA27A, spinocerebellar ataxia type 27
Xenbase Genes
:
fgf14
| MONDO:0012247 - cervical gland |
| MIM:193003 - SPINOCEREBELLAR ATAXIA 27A; SCA27A |
| MIM:609307 - MOVED TO 193003 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant cerebellar ataxia (is_a)