Rare Disease Library

PEHO syndrome

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome · PEBAS

Progressive encephalopathy with leukodystrophy due to DECR deficiency

2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia

Ravine syndrome

Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome