Disease: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850056
Disease: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome 		0.010 GeneticVariation disease BEFREE Recently, mutations in multiple genes including SEPSECS have been described in patients with a PEHO-like syndrome. 30100179 2018