KMT2D and Cowden syndrome 1: Next, we have revealed that six patients with syndromic CS carried pathogenic variants in genes involved in epigenetic regulations such as ARID1A (P134), KMT2A (P137), KMT2D (P114), NSD1 (P58, P99, P166) (Table 2), resulting in Coffin-Siris syndrome type 2, Wiedemann-Steiner syndrome, Kabuki syndrome type 1, and Sotos syndrome type 1, respectively.