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GTR Home > Conditions/Phenotypes > Ataxia with oculomotor apraxia type 3

Ataxia with oculomotor apraxia type 3

Synonyms
Ataxia-oculomotor apraxia 3

Summary

AOA3 is an autosomal recessive progressive neurologic disorder with onset in the second decade of life (Al Tassan et al., 2012). For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (208920). [from OMIM]

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: F730038I15Rik, FOAP-2, P101-PI3K, p101, PIK3R5
    Summary: phosphoinositide-3-kinase regulatory subunit 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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