Mutations in TMEM67 are inherited in an autosomal recessive manner and may cause a variety of conditions such as Meckel–Gruber syndrome 3 (MKS3; OMIM 607361), COACH syndrome (OMIM 216360), Bardet–Biedl syndrome 14 (BBS14; OMIM 615991), RHYNS syndrome (OMIM 602152) as well as Joubert syndrome 6 (JBTS6; OMIM 610688) and nephronophthisis 11 (NPHP11; OMIM 613550). The gene discussed is CEP290; the disease is Joubert syndrome with hepatic defect.