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GTR Home > Conditions/Phenotypes > Mitochondrial complex 3 deficiency, nuclear type 11

Mitochondrial complex 3 deficiency, nuclear type 11

Synonyms
Mitochondrial complex III deficiency, nuclear type 11

Summary

Mitochondrial complex III deficiency nuclear type 11 (MC3DN11) is an autosomal recessive disorder characterized by recurrent episodes of severe lactic acidosis, hyperammonemia, hypoglycemia, and encephalopathy (Vidali et al., 2021) For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: MC3DN11, QCR6, UQCR8, UQCRH
    Summary: ubiquinol-cytochrome c reductase hinge protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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