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PEHO phenotype caused by CCDC88A truncating mutation (TIRM)

T2-weighted TIRM sagittal image of a 6-year-old child with the PEHO phenotype caused by CCDC88A truncating mutation demonstrating a thin corpus callosum and mild reduction in cerebellar vermis volume. (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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Associated Disorders

  • Infantile spasms
  • Lennox-Gastaut syndrome
  • Optic atrophy
  • Optic hypoplasia