GTR Home > Conditions/Phenotypes > Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

Summary

Mitochondrial complex IV deficiency nuclear type 9 (MC4DN9) is an autosomal recessive multisystem metabolic disorder characterized by neonatal hypertrophic cardiomyopathy resulting in death in early infancy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV (summary by Huigsloot et al., 2011). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. [from OMIM]

Available tests

13 tests are in the database for this condition.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 6330578E17Rik, C2orf64, CEMCOX3, MC4DN9, Pet191, COA5
    Summary: cytochrome c oxidase assembly factor 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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