Recessive mutations in RPGRIP1L, which is a homolog of RPGRIP1, can cause systematic ciliopathies like Joubert syndrome-7 (Delous et al., 2007), Meckel syndrome 5 (Delous et al., 2007), and COACH syndrome 3 (Doherty et al., 2010), which also involve intellectual disability. Here, RPGRIP1 is linked to Joubert syndrome with hepatic defect.