This group also identified three synonymous and two intronic variants in NSD2 and two synonymous substitutions in NSD3. Intragenic deletion of glypican 3 (GPC3) involved in Simpson–Golabi–Behmel syndrome was identified in a patient who was originally diagnosed with Sotos syndrome [78,79], and two 11p15 anomalies including paternal uniparental disomy and epigenetic defects (abnormal methylation status) were also identified among 20 patients with Sotos syndrome [80]. This evidence concerns the gene NSD2 and Sotos syndrome.