GTR Home > Conditions/Phenotypes > Early infantile epileptic encephalopathy 2

Summary

Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (312750), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CFAP247, EIEE2, ISSX, STK9, CDKL5
    Summary: cyclin dependent kinase like 5

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