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GTR Home > Conditions/Phenotypes > Mitochondrial complex 1 deficiency, nuclear type 18

Mitochondrial complex 1 deficiency, nuclear type 18

Synonyms
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18

Summary

Mitochondrial complex I deficiency nuclear type 18 (MC1DN18) is an autosomal recessive disorder of the oxidative phosphorylation (OXPHOS) system. Affected individuals present with lactic acidemia soon after birth. Clinical features may include hypertonia or hypotonia, poor feeding, respiratory problems, leukomalacia, and seizures. Death occurs by 6 months of age (Saada et al., 2009). For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010. [from OMIM]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 2P1, C3orf60, E3-3, MC1DN18, NDUFAF3
    Summary: NADH:ubiquinone oxidoreductase complex assembly factor 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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