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PEHO: typical edema

Typical edema of the dorsum of the hand (left) and pedal edema (right) in a 6-year-old child with the PEHO phenotype caused by CCDC88A truncating mutation. (Source: Nahorski MS, Asai M, Wakeling E, et al. CCDC88A mutations cause PEHO-like syndrome in humans and mouse. Brain 2016;139(Pt 4):1036-44. Creative Commons Attribution License.)

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  • Infantile spasms
  • Lennox-Gastaut syndrome