One case has 16p11.2 (distal, BP2-BP3), SH2B1, a critical gene which has been reported in association with a variable and incompletely penetrant phenotype that may include developmental delay, obesity, behavioral problems, schizophrenia, and craniofacial dysmorphism (Hanson et al., 2014; Dell’Edera et al., 2018). This evidence concerns the gene SH2B1 and obesity due to melanocortin 4 receptor deficiency.