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]. This evidence concerns the gene KAT6A and Global developmental delay.