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GTR Home > Conditions/Phenotypes > Mitochondrial complex I deficiency, nuclear type 39

Mitochondrial complex I deficiency, nuclear type 39

Summary

Mitochondrial complex I deficiency nuclear type 39 (MC1DN39) is an autosomal recessive nuclear disorder of mitochondrial respiratory chain complex I characterized by intrauterine growth retardation and anemia and postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with a fatal outcome (Correia et al., 2021) [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: B18, CI-B18, MC1DN39, NDUFB7
    Summary: NADH:ubiquinone oxidoreductase subunit B7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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