CEP290 and ciliopathy: This inherited recessively ciliopathy is associated with mutations in multiple genes, encoding the protein components of the MKS module (including B9D1, B9D2, CC2D2A, MKS1, TCTN2, TMEM216, TMEM67, TMEM107 and TMEM231) as well as nephrocystins (e.g., NPHP3, NPHP6, NPHP8).