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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia, autosomal recessive 23

Spinocerebellar ataxia, autosomal recessive 23

Synonyms
Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive spinocerebellar ataxia-23 is a neurologic disorder characterized by epilepsy, intellectual disability, and gait ataxia (summary by Gomez-Herreros et al., 2014). [from OMIM]

Available tests

7 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AD022, EAP2, EAPII, TTRAP, dJ30M3.3, hTDP2, TDP2
    Summary: tyrosyl-DNA phosphodiesterase 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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