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GTR Home > Conditions/Phenotypes > Mitochondrial complex 4 deficiency, nuclear type 14

Mitochondrial complex 4 deficiency, nuclear type 14

Synonyms
MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14

Summary

Mitochondrial complex IV deficiency nuclear type 14 (MC4DN14) is an autosomal recessive metabolic disorder characterized by global developmental delay, exercise intolerance, walking difficulties, impaired intellectual development, short stature, mild dysmorphic features, and sensorimotor peripheral neuropathy. Patient skeletal muscle tissue shows decreased levels and activity of mitochondrial respiratory complex IV (Ostergaard et al., 2015). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CCDC56, COX25, HSPC009, MC4DN14, MITRAC12, hCOA3, COA3
    Summary: cytochrome c oxidase assembly factor 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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