ADNP and ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder: Recent findings (Kooy's laboratory) place ADNP as one of the most frequent de novo mutated ASD genes, defined as the ADNP syndrome and also known as the Helsmoortel-Van der Aa syndrome.11, 12, 13 Notably, an original observation in the ADNP syndrome was facial dysmorphisms11 that may be associated with development of dentition and craniofacial skeleton.14