ADNP and ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder: The latter category can be illustrated by the patient 412759, who carried a pathogenic ADNP intragenic deletion, leading to LoF, which has been previously associated with the ADNP syndrome, with “large head” amongst its clinical findings, as described by Li et al. (2017) [72] and Gozes (2020) [73].