In addition, Pten, Shank3, Adnp, and Nrxn1 are associated with Cowden syndrome, Phelan-McDermid syndrome, Helsmoortel-Van der Aa syndrome, and Pitt-Hopkins-like syndrome 2, respectively (SFARI Gene, 2024). Here, NRXN1 is linked to Monosomy 22q13.