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GTR Home > Conditions/Phenotypes > Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

Synonyms
Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)

Summary

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene. [from MONDO]

Available tests

34 tests are in the database for this condition.

Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BERHS, MGM1, MTDPS14, NPG, NTG, largeG, OPA1
    Summary: OPA1 mitochondrial dynamin like GTPase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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