Depending on the location of AUTS2 point mutations/deletions the phenotype ranges from an isolated neurodevelopmental disorder (e.g., autism spectrum disorder, attention deficit hyperactivity disorder, learning disabilities and/or intellectual disability) to a syndromic disorder with microcephaly, short stature, feeding difficulties, heart defects, skeletal anomalies, contractures and dysmorphic features (Beunders et al., 2013; Beunders et al., 2016; Saeki et al., 2019; Sanchez-Jimeno et al., 2021). Here, AUTS2 is linked to neurodevelopmental disorder.