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GTR Home > Conditions/Phenotypes > Mitochondrial complex 4 deficiency, nuclear type 18

Mitochondrial complex 4 deficiency, nuclear type 18

Synonyms
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18

Summary

Mitochondrial complex IV deficiency nuclear type 18 (MC4DN18) is an autosomal recessive metabolic disorder that primarily affects skeletal muscle tissue. Affected individuals present in infancy with hypotonia, limb muscle weakness, and high-arched palate. The severity of the disorder is variable: some patients may only have gait difficulties, whereas others may also have significant respiratory insufficiency and cardiomyopathy. Death in infancy has been reported. Patient skeletal muscle shows decreased levels and activity of mitochondrial respiratory complex IV (Inoue et al., 2019). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COX6AH, COXVIAH, COXVIa-M, MC4DN18, COX6A2
    Summary: cytochrome c oxidase subunit 6A2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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