Moreover, Belanger Deloge et al. [1] identified eight phenotypic expansions of know genetic syndromes comprising Helmsmoortel-van der Aa syndrome (# 615873, ADNP), Bardet-Biedl syndrome 1 (# 209900, BBS1), Rubinstein-Taybi syndrome 1 (# 180849, CREBBP), Rubinstein-Taybi syndrome 2 (# 613684, EP300), Fanconi anemia, complementation group C (# 227645, FANCC), Kabuki syndrome 2 (# 300867, KDM6A), Luscan-Lumish syndrome (SETD2-related disorder) (# 616831, SETD2), and Coffin-Siris syndrome 4 (# 614609, SMARCA4). Here, SETD2 is linked to Rubinstein-Taybi syndrome due to EP300 haploinsufficiency.