Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 ×
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.010 GeneticVariation BEFREE A relevant example is the pleiotropic R1648H mutation that can cause either mild GEFS+ or severe DS. 30659983 2019