Activity-dependent neuroprotective protein (ADNP), discovered and first characterized in our laboratory (IG) as vital for mammalian brain formation1–5, was found to be frequently mutated in autism spectrum disorder (ASD) with associated cognitive deficits6 (also known as the ADNP syndrome), as well as deficiencies in schizophrenia and Alzheimer’s disease (AD). The gene discussed is ADNP; the disease is ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder.