Patients carrying two rare exonic deletions in the longest AUTS2 isoform have been studied in depth, and display central AUTS2 syndrome features including ID and developmental delay as well as ASD, feeding difficulties, growth deficits, microcephaly, and craniofacial abnormalities, supporting the importance of AUTS2 in these phenotypes (Beunders et al. 2015). The gene discussed is AUTS2; the disease is Down syndrome.