KBG syndrome (KBGS; OMIM #148050) is an autosomal dominant neurodevelopmental disorder (NDD) first described in 1975 [1] that is caused by the haploinsufficiency of the ANKRD11 gene (OMIM #611192) at 16q24.3 due to heterozygous pathogenic variants or chromosomal imbalances [2,3,4]. This evidence concerns the gene ANKRD11 and KBG syndrome.