ADNP-related condition, known as “Helsmoortel-van der Aa syndrome”, is characterized by a group of features presenting with autism spectrum disorder, developmental delay, dysmorphic facial features and multiple congenital anomalies. Seventeen cases have been reported to date in the medical literature, in which all were identified via whole exome sequencing (WES). We report on a child with developmental delay, hypotonia, dysmorphic features consistent with Noonan syndrome, in whom WES identified a novel variant in ADNP gene. This further delineate the phenotype of Helsmoortel-van der Aa syndrome and emphasizes the advantage of
