Arboleda-Tham Sydrome (MIM# 616268), also known as KAT6A syndrome, is a genetic syndrome caused by mutations in the Lysine (K) acetyltransferase KAT6A characterized by global developmental delay, intellectual disability, speech delay or absence and phenotypes of variable expressivity such as congenital heart defects and gastrointestinal anomalies [7, 58]. Here, KAT6A is linked to autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome.