FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term spinocerebellar ataxia type 27A ID (Ontology) DOID:0050976 (Human Disease)
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.
Also Known As "autosomal dominant congenital nystagmus 4" ; "congenital nystagmus 4" ; "SCA27A" (for all, see Synonyms field below)
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 Genes
 spinocerebellar ataxia type 27A       1
 for disease ribbon | spinocerebellar ataxia type 27A       1
 model of | spinocerebellar ataxia type 27A       1
Spanning Tree (Parents/Children)
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autosomal dominant disease__
cerebellar ataxia___________|
                            autosomal dominant cerebellar ataxia
                             |__spinocerebellar ataxia type 27A  1 rec.
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Is a autosomal dominant cerebellar ataxia
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Synonyms
  • "autosomal dominant congenital nystagmus 4" EXACT
    "congenital nystagmus 4" EXACT
    "SCA27A" EXACT OMO:0003012
    "spinocerebellar ataxia type 27" EXACT
    "vestibulocerebellar disorder with predominant ocular signs" EXACT
Secondary IDs
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GARD:9603
MIM:193003