GTR Home > Conditions/Phenotypes > Autosomal dominant optic atrophy plus syndrome

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

40 tests are in the database for this condition.

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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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