PEHO syndrome [DS:H02252] is a rare hereditary disease comprising severe retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal oedema, and early death. Cases lacking either optic atrophy or cerebellar hypoplasia are often termed PEHO-like syndrome. A homozygous frameshift mutation in CCDC88A has been identified in affected individuals.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02338 PEHO-like syndrome
