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Combined oxidative phosphorylation deficiency 33

Summary

COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from OMIM]

Available tests

8 tests are in the database for this condition.

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Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COXPD33, GC1QBP, HABP1, SF2AP32, SF2p32, gC1Q-R, gC1qR, p32, C1QBP
    Summary: complement C1q binding protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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