rs193929353, KCNJ11

N. diseases: 4
Disease: Global developmental delay ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.010 GeneticVariation BEFREE However, the I296L mutation also results in developmental delay, muscle weakness and epilepsy. 15864298 2005