KMT2D and Kabuki syndrome: This is also consistent with the lack of overrepresentation of WDSTS missense variants within the enzymatic SET domain of KMT2A, and stands in contrast to what was previously observed in Kabuki syndrome, a Mendelian disorder of the epigenetic machinery with considerable phenotypic overlap with WDSTS caused by variants in KMT2D, which is structurally similar to KMT2A [10].