Parents

SOX4-related neurodevelopmental disorder has been described in only four unrelated subjects up to date. It is thus a very rare disorder. Patients were all sporadic and carriers of de novo mutations, which means that SOX4 mutations were absent in the mother and father but arose in the patient. Patients shared such features as a delay in development (meaning that they started to walk and/or speak later than usual), intellectual disability and a peculiar facial appearance.