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Definition

An autosomal recessive syndrome characterized by progressive encephalopathy, lack of psychomotor development, severe mental retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal edema, and early death.

Acronym

PEHO

Synonyms

Infantile cerebellooptic atrophy
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy

Keywords

Neurodegeneration
Epilepsy
Mental retardation