Weaver syndrome (MIM #277590) is an autosomal dominant condition caused by germline monoallelic mutations affecting the genes encoding the core PRC2 subunits, EZH2, EED and SUZ12 (Cohen et al., 2015; Gibson et al., 2012; Imagawa et al., 2017; Tatton-Brown et al., 2011). Here, EED is linked to Weaver syndrome.