MKS1 and Meckel syndrome, type 1: MKS cases display a notable degree of clinical overlap with JBTS, and at least 10 mutations (MKS1, TMEM216, TMEM67, CEP290, CC2D2A, NPHP3, TCTN2, B9D1, B9D2, and TMEM231) have been identified in both diseases.