rs193929358, KCNJ11

N. diseases: 5
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Developmental Delay, Epilepsy, and Neonatal Diabetes
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
0.010 GeneticVariation BEFREE Here we describe a patient with severe PNDM, which includes developmental delay and epilepsy, in addition to neonatal diabetes (developmental delay, epilepsy, and neonatal diabetes [DEND]), due to a G334D mutation in the Kir6.2 subunit of K(ATP) channel. 17259376 2007