Interestingly, in addition to a multigenic and Auts2 intragenic deletions and duplications, human duplications contained completely within the intergenic region between AUTS2 and GALNT17 have been reported in public databases, and are associated with generalized developmental delay (for example, in the ClinVar database (Landrum et al. 2016)). Here, AUTS2 is linked to Global developmental delay.