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GTR Home > Conditions/Phenotypes > Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features

Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features

Summary

X-linked epilepsy-2 with or without impaired intellectual development and dysmorphic features (EPILX2) is a neurologic disorder characterized by the onset of seizures usually in the first years of life, although later onset may also occur. Most individuals also have developmental delay, speech delay, and intellectual disability or learning difficulties. Some patients have dysmorphic facial features or mild skeletal anomalies. The severity of the disorder and accompanying features are highly variable, even within the same family. In general, males are more severely affected than females, although there is evidence for incomplete penetrance in both sexes (Niturad et al., 2017). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: EPILX2, GABRA3
    Summary: gamma-aminobutyric acid type A receptor subunit alpha3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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