A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

Background Cerebral palsy(CP) is a heterogeneous neurodevelopmental disorderassociated with intellectual disabilityin one-third of cases. Recent findings support Mendelian inheritancein subgroups of patients with the disease. The purpose of this study was to identify a novel genetic cause of paraplegic CP with intellectual disabilityin a consanguineousPakistani family.