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Combined oxidative phosphorylation deficiency 57

Summary

Combined oxidative phosphorylation deficiency-57 (COXPD57) is an autosomal recessive multisystem mitochondrial disease with varying degrees of severity from premature death in infancy to permanent disability in young adulthood (Lee et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C20orf155, CLS, CLS1, COSPD57, GCD10, dJ967N21.6, CRLS1
    Summary: cardiolipin synthase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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