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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Summary

Excerpted from the GeneReview: Ataxia with Oculomotor Apraxia Type 2
Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between age three and 30 years after initial normal development, axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy, and elevated serum concentration of alpha-fetoprotein (AFP).

Available tests

57 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: ALS4, AOA2, SCAN2, SCAR1, STEX, Sen1, bA479K20.2, SETX
    Summary: senataxin

Clinical features

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