Subsequently, a MDS analysis considering the six previously confirmed Sotos samples, 11 affected individuals with overlapping clinical phenotypes suggestive of Sotos syndrome (Table 1, Figure 1, supplemental clinical reports) and found heterozygous for an unclassified or previously unreported NSD1 variant, and 295 controls (including 213 neurotypical individuals and 82 affected subjects by different genetic diseases) was performed (Figure 3A). Here, NSD1 is linked to Sotos syndrome.