Mutations in the SWI/SNF-complex-related gene ADNP (Activity-Dependent Neuroprotector Homeobox; OMIM 611386) cause a syndromic form of autism called Helsmoortel-van der Aa syndrome (OMIM 615873). Here, ADNP is linked to ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder.