Recently a truncating mutation in the TANGO1 (MIA3) gene, encoding a protein involved in the export of bulky cargos from the ER to the Golgi, has been reported in one consanguineous family with a complex syndrome of dentinogenesis imperfecta, short stature, skeletal abnormalities, sensorineural hearing loss, and mild intellectual disability. The gene discussed is MIA3; the disease is Intellectual disability.