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GTR Home > Conditions/Phenotypes > Progressive myoclonic epilepsy type 9

Progressive myoclonic epilepsy type 9

Summary

A rare genetic neurological disorder with characteristics of childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia leading to severe gait disturbances associated with normal to slightly diminished cognition. Scoliosis, diffuse muscle atrophy and subcutaneous fat loss, as well as developmental delay, may be associated. Brain MRI may reveal complete agenesis of the corpus callosum, ventriculomegaly, interhemispheric cysts and simplified gyration (frontally). [from SNOMEDCT_US]

Available tests

10 tests are in the database for this condition.

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Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EPM9, LAMB2, LMN2, MCPH27, LMNB2
    Summary: lamin B2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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