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GTR Home > Conditions/Phenotypes > Mitochondrial complex IV deficiency, nuclear type 23

Mitochondrial complex IV deficiency, nuclear type 23

Summary

Mitochondrial complex IV deficiency nuclear type 23 (MC4DN23) is an autosomal recessive disorder characterized by infantile-onset encephalopathy (Rius et al., 2022). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: COX11P, MC4DN23, COX11
    Summary: cytochrome c oxidase copper chaperone COX11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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