Activity Dependent Neuroprotective Protein was first described as a neuroprotective protein and has been implicated in various rare neural developmental disorders and cancers, including the Helsmoortel-Van der Aa syndrome, gastric and colorectal cancers (Pinhasov et al., 2003; Vandeweyer et al., 2014). Here, ADNP is linked to ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder.