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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia type 27

Spinocerebellar ataxia type 27

Synonyms
Cerebellar ataxia autosomal dominant FGF14-related; Spinocerebellar Ataxia Type27
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Disease with characteristics of early-onset tremor, dyskinesia and slowly progressive cerebellar ataxia. Fewer than 30 cases have been reported to date. This disease is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34). Prognosis is relatively good. Life-threatening status epilepticus and intractable seizure or severe dysphagia is rare. [from SNOMEDCT_US]

Available tests

34 tests are in the database for this condition.

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Clinical tests (34 available)

Molecular Genetics Tests

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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