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PEHO syndrome

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0009841:  PEHO syndrome
DOID:0080539: 
GARD:0004264: 
MESH:C536317: 
Orphanet:2836: 
UMLS:C1850055: