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

Summary

EIEE2 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]

Associated genes

Clinical features

Help
  • Hyperventilation
  • Intellectual disability, profound
  • West syndrome
  • Tapered fingers
  • Inability to walk
  • Small hand
  • Short foot
  • Hypsarrhythmia
  • Poor eye contact
  • Prominent forehead
  • Anteverted nares
  • Broad forehead
  • Constipation
  • Thick lower lip vermilion
  • Progressive microcephaly
  • Deeply set eye
  • Stereotypic behavior
  • Muscular hypotonia
  • Global developmental delay
  • Myoclonus
  • Gastroesophageal reflux
  • Generalized myoclonic seizures
  • Developmental regression
  • Scoliosis
  • Short palm
Show all (25)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk