EZH2 and Weaver syndrome: Its dysregulation is directly linked to the sustained overgrowth characteristic of the syndrome.[27] The majority (~90%) of pathogenic EZH2 variants identified in patients with Weaver syndrome are missense mutations, with a smaller proportion being nonsense mutations or segmental deletions.[10,28] In the present case, genetic analysis identified a c.2050C>T missense variant in the EZH2 gene.