Mutations in hPACS1 cause the Schuurs–Hoeijmakers syndrome (SHMS), also known as PACS1 neurodevelopmental disorder (PACS1-NDD), a rare autosomal dominant disease characterized by epileptic seizures, autism, cerebellar abnormalities, distinctive craniofacial features, cryptorchidism in males and congenital abnormalities including heart and ocular defects and hypotonia [25–27]. The gene discussed is PACS1; the disease is neurodevelopmental disorder.