Helsmoortel-van der Aa syndrome (MIM #615873), an autosomal dominant disorder characterized by impaired intellectual development, autism spectrum disorder, motor delay, hypotonia, visual difficulties, congenital heart disease, gastrointestinal phenotypes, and facial dysmorphisms, is caused by heterozygous variants in activity-dependent neuroprotective homeobox (ADNP; MIM #611386) [47]. The gene discussed is ADNP; the disease is congenital heart disease.