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GTR Home > Conditions/Phenotypes > Combined oxidative phosphorylation deficiency 34

Combined oxidative phosphorylation deficiency 34

Synonyms
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

Summary

COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from OMIM]

Available tests

7 tests are in the database for this condition.

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Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COXPD34, MRP-S, MRP-S7, RP-S7, RPMS7, S7mt, bMRP27a, uS7m, MRPS7
    Summary: mitochondrial ribosomal protein S7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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