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GTR Home > Conditions/Phenotypes > Coenzyme q10 deficiency, primary, 9

Coenzyme q10 deficiency, primary, 9

Summary

Coenzyme Q10 deficiency-9 (COQ10D9) is an autosomal recessive disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in the first decade of life. Some patients may have additional neurologic signs and symptoms, including intellectual disability and seizures. Treatment with CoQ10 may offer clinical benefit (summary by Malicdan et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COQ10D9, COQ5
    Summary: coenzyme Q5, methyltransferase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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