In 2016, Kim et al. (2016) recruited 20 non-related individuals with de novo mutations in the SON gene and observed that all patients exhibited intellectual disability and facial dysmorphisms, with 17 of them also presenting with brain abnormalities, seizures or hypotonia, and other associated musculoskeletal, eye and vision, heart, urogenital, and gastrointestinal malformations. Here, SON is linked to Intellectual disability.