| Metadata | |
|---|---|
| ID | DOID:0050976 |
| Name | spinocerebellar ataxia type 27A |
| 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/ |
| Xrefs | |
| Alternateids |
DOID:0111794 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant congenital nystagmus 4 [EXACT] congenital nystagmus 4 [EXACT] SCA27A [EXACT] spinocerebellar ataxia type 27 [EXACT] vestibulocerebellar disorder with predominant ocular signs [EXACT] |
| Parent Relationships |