Progressive Encephalopathy-optic Atrophy Syndrome

About the Disease
Peho Syndrome, also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy, is related to 3-methylglutaconic aciduria, type iii and pontocerebellar hypoplasia, type 2d, 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, skin and cerebellum, and related phenotypes are hyperreflexia and abnormality of eye movement

Common Targets
SCN2A | UBA5 | TBCD | PLAA | ZNHIT3 | TBCK | CCDC88A | SCN1A

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