PTEN gene mutations show age-related penetrance (Lachlan et al., 2007): in childhood, they are often associated with macrocephaly, developmental delay (DD), and/or autism spectrum disorder, less commonly with thyroid lesions, while the development of tumors and intestinal polyps are rare, being more frequently detected in adult individuals (Heald et al., 2010; Hansen-Kiss et al., 2017; Ciaccio et al., 2019; Macken et al., 2019). Here, PTEN is linked to autism spectrum disorder.