Heterozygous EZH2 loss of function variants cause Weaver syndrome (WVS), according to current data, most likely due to PRC2 defects with consequently altered WNT/beta-catenin signaling in stem cells that result in overgrowth of the skeleton, visceral organs and/or the brain (Lui and Baron, 2023). The gene discussed is CTNNB1; the disease is Weaver syndrome.