AUTS2 and autism spectrum disorder due to AUTS2 deficiency: The diagnosis with an interstitial deletion of 230.8 kb from the long arm of chromosome 7 (7q11.22 which includes partial AUTS2 gene deletion) has been associated with AUTS2 syndrome with intellectual disability, speech, and language delays, dysmorphic facies, and some rare congenital malformations [21] although EA/TEF has not been reported in the literature with this deletion.