Dosage alterations in RAPGEF1 have been associated with cerebral palsy [53] and a missense variant (c.423G>A (NM_198679.1, NP_941372.1:p.[M141I])) was found to be associated with neuropsychiatric symptoms in two siblings from a Pakistani pedigree (moderate intellectual disability, mood swings, repetitive behaviour and speech issues in one individual). The gene discussed is RAPGEF1; the disease is Intellectual disability.