PIK3R2

Clinical Characteristics

The megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is characterized by:

  • Brain overgrowth o megalencephaly – often congenital
  • Structural brain abnormalities such as polymicrogyria
  • Hydrocephalus – may require neurosurgical intervention
  • Extra digits (either fingers or toes)

Bilateral perisylvian polymicrogyria is characterized by:

  • Epilepsy
  • Oromotor weakness including dysphagia, difficulties handling oral secretions and expressive speech delay