This was consistent with these diseases being distinct, although extensive overlap of clinical signs between SETD2-associated phenotypes and other overgrowth syndromes related to NSD1, EZH2 or DNMT3A in Sotos, Weaver and Tatton-Brown-Rahman syndromes, respectively, has been reported [36,37]. Here, SETD2 is linked to Tatton-Brown-Rahman overgrowth syndrome.