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

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.