NSD1 and Weaver syndrome: This study utilized the same high resolution methylation array used here and was able to distinguish individuals with Sotos syndrome (secondary to pathogenic NSD1 mutations) from individuals with non-pathogenic mutations of NSD1, as well as from cases of the clinically similar disorder Weaver syndrome, caused by mutations in the histone methyltransferase EZH2 (Enhancer of Zeste, Drospholia, Homolog 2).