Disruption of AUTS2 causes a syndromic form of intellectual disability (ID) known as AUTS2 syndrome (OMIM #615834), characterized by a highly variable phenotype consisting of global developmental delay (GDD) and/or ID commonly associated with the combination of microcephaly, short stature, feeding difficulties, and hypotonia, as well as recognizable facial dysmorphic features [4,5,6]. The gene discussed is AUTS2; the disease is autism spectrum disorder due to AUTS2 deficiency.