KMT2D-related Kabuki syndrome (type 1) (OMIM# 147920) is inherited in an autosomal dominant manner and KMT2D mutations are present in 34–76 % of patients with KS, while KDM6A-related KS (type 2) (OMIM# 300867) is less frequent and inherited in an X-linked manner (Adam et al. 1993; Van Laarhoven et al. 2015). The gene discussed is KMT2D; the disease is Kabuki syndrome.