ANKRD11 encodes the ankyrin repeat domain containing protein 11 and its haploinsufficiency, resulting from either loss-of-function variants, 16q24.3 microdeletions or intragenic microduplications, has been documented in patients with the KBG syndrome (OMIM #148050), a rare developmental disorder characterized by ID, ASD and distinctive craniofacial features [11,12,13,14]. Here, ANKRD11 is linked to KBG syndrome.