AFF4 and Cornelia de Lange syndrome: In addition, missense substitutions in AFF4, a subunit of the super elongation complex which coordinates pausing of RNA polymerase II, were identified in individuals with CHOPS (cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia; OMIM #616368), who were initially suspected of having CdLS (Izumi et al., 2015).