U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Autosomal recessive spinocerebellar ataxia 12

Autosomal recessive spinocerebellar ataxia 12

Synonyms
SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive spinocerebellar ataxia-12 is a neurologic disorder characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia. Some patients may also show spasticity (summary by Mallaret et al., 2014). [from OMIM]

Available tests

27 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: D16S432E, DEE28, EIEE28, FOR, FRA16D, HHCMA56, PRO0128, SCAR12, SDR41C1, WOX1, WWOX
    Summary: WW domain containing oxidoreductase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.