The syndrome was first reported in 2015 by Zhu et al. (2015), who analyzed 119 trios based on Whole Exome Sequencing (WES) of patients with undiagnosed genetic diseases and identified a frameshift mutation in the SON gene in a 5-year-old girl with developmental delay, epilepsy, megalencephalic white matter dysplasia, mild dysmorphisms, intestinal atresia, and ventricular septal defect. Here, SON is linked to Global developmental delay.