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GTR Home > Conditions/Phenotypes > Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

Summary

Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010). [from OMIM]

Available tests

76 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (76 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

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Imported from Human Phenotype Ontology (HPO)

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