Disease: Developmental delay (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.060 GeneticVariation phenotype BEFREE Neonatal diabetes mellitus (NDM) due to KCNJ11 gene mutation presents with diabetes in the first 3 months of life and sometimes with neurological features like developmental delay, muscle weakness and epilepsy. 21210267 2011
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.060 GeneticVariation phenotype BEFREE In contrast, two patients with the KCNJ11 mutations manifested epilepsy and developmental delay. 17635943 2007
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.060 GeneticVariation phenotype BEFREE We report the response to sulfonylurea treatment in a boy with neonatal diabetes and marked developmental delay resulting from the KCNJ11 mutation V59M. 17047922 2006
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.060 GeneticVariation phenotype BEFREE Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M). 16087682 2005
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.060 GeneticVariation phenotype BEFREE In addition to diabetes, some KCNJ11 mutations also result in marked developmental delay and epilepsy. 15718250 2005
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.060 GeneticVariation phenotype BEFREE We conclude that KCNJ11 mutations are a common cause of PNDM either in isolation or associated with developmental delay. 15580558 2005