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GTR Home > Conditions/Phenotypes > Mitochondrial complex 1 deficiency, nuclear type 23

Mitochondrial complex 1 deficiency, nuclear type 23

Synonyms
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23

Summary

Mitochondrial complex I deficiency nuclear type 23 (MC1DN23) is an autosomal recessive nuclear-encoded mitochondrial disease with clinical presentations ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. MRI findings may include basal ganglia abnormalities or optic atrophy (summary by Magrinelli et al., 2022). [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: B17.2, DAP13, MC1DN23, NDUFA12
    Summary: NADH:ubiquinone oxidoreductase subunit A12

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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