Peho Syndrome (PEHO)

Peho Syndrome, also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy, is related to 3-methylglutaconic aciduria, type iii and non-syndromic pontocerebellar hypoplasia, and has symptoms including myoclonus An important gene associated with Peho Syndrome is ZNHIT3 (Zinc Finger HIT-Type Containing 3), and among its related pathways/superpathways is Rett syndrome causing genes. Affiliated tissues include eye and skin, and related phenotypes are seizure and hyperreflexia