SATB2 and SATB2 associated disorder: SATB2-associated syndrome (SAS), associated with abnormalities of the SATB2 gene (OMIM 608148), is an entity described in 2014 by Docker et al. [1] after the observation that children born with a deletion in the 2q33.1 region have a clinical phenotype similar to that of children with a point mutation in the SATB2 gene.