Disease: Early myoclonic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		0.010 GeneticVariation disease BEFREE We herein report a patient with early myoclonic encephalopathy (EME) caused by a KCNQ2 mutation. 28687180 2018