The nonsense variant in PHF6 is located in the ePHD2 domain in which causative de novo truncating and missense variants for Börjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900] [20], and Coffin-Siris syndrome (CSS) [MIM:135900] [21] are known. Here, PHF6 is linked to Borjeson-Forssman-Lehmann syndrome.