To date, it has been reported that COACH syndrome is primarily caused by mutations in the Transmembrane Protein 67 gene (TMEM67; also called Meckel-Gruber syndrome type 3 gene [MKS3] or meckelin) and rarely by mutations in the RPGRIP1L (also called NPHP) or CC2D2A gene7, 9. Here, TMEM67 is linked to Joubert syndrome with hepatic defect.