Our overarching goal was to characterise patterns of cognitive profile and adaptive behaviour in a clinically characterised cohort of 24 children and adolescents with KBGS in which a clinical diagnosis was confirmed by molecular testing, with the detection of 22 pathogenic variants in ANKRD11 gene and two 16q24 microdeletions encompassing the ANKRD11 gene, entirely. Here, ANKRD11 is linked to KBG syndrome.