MC4R, melanocortin 4 receptor, 4160

N. diseases: 149; N. variants: 58
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.010 GeneticVariation disease BEFREE The case emphasizes both the role of the MC4R gene in obesity as well as the importance of looking for chromosomal microdeletions/duplications as a cause of obesity in children with minor anomalies or developmental delay. 25747306 2015