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GTR Home > Conditions/Phenotypes > Myoclonus, intractable, neonatal

Myoclonus, intractable, neonatal

Summary

Neonatal intractable myoclonus (NEIMY) is a severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants have intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy. There is phenotypic and biochemical evidence of mitochondrial dysfunction (summary by Duis et al., 2016). [from OMIM]

Available tests

14 tests are in the database for this condition.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALS25, D12S1889, MY050, NEIMY, NKHC, SPG10, KIF5A
    Summary: kinesin family member 5A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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