Pathogenic loss-of-function (lof) variants in the KMT2D gene with an autosomal dominant pattern of inheritance have been linked to the great majority of cases of Kabuki syndrome, which is one of the most well-characterized pediatric chromatinopathies [6] and is hallmarked by multiple congenital anomalies and intellectual disabilities [7,8]. This evidence concerns the gene KMT2D and Kabuki syndrome.