KMT2D and Kabuki syndrome 1: KMT2D also has a high level of predicted disorder content (55%)with many regions of intrinsic disorder, which are typical features of nuclearproteins that regulate transcription and chromatinorganization.4 Kabuki syndrome type 1 (KS1, MIM 147920) is anautosomal dominant condition caused by loss-of-function KMT2D (MIM 602113) variants.5 Over 700 KMT2D variants have been reported in the literature inindividuals with KS1.