Peho Syndrome (PEHO)

Peho Syndrome(来自ICD-11)

别称:

Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy

Progressive Encephalopathy with Edema, Hypsarrhythmia and Optic Atrophy

Progressive Encephalopathy-Optic Atrophy Syndrome

Infantile Cerebellooptic Atrophy

Peho

Encephalopathy Progressive Optic Atrophy

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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

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