GTR Home > Conditions/Phenotypes > Early infantile epileptic encephalopathy 18

Summary

Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). [from OMIM]

Available tests

25 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: C1orf84, EIEE18, KIAA0467, SZT2A, SZT2B, SZT2
    Summary: SZT2 subunit of KICSTOR complex

Clinical features

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