RPGRIP1L is a causal gene in severe human ciliopathies with brain abnormalities, Meckel–Gruber syndrome (MKS5 OMIM 611561) and Joubert syndrome type B (JBTS7 OMIM 611560; Arts et al., 2007; Delous et al., 2007). Here, RPGRIP1L is linked to Meckel syndrome, type 5.