OFD1 and ciliopathy: Mutations in several genes implicated in JBTS have been identified in other ciliopathies such as MORM syndrome (mental retardation, truncal obesity, retinal dystrophy, and micropenis; MIM #610156) [5] and nephronophthisis (NPHP; MIM #256100), Meckel syndrome (MIM #249000) [6, 7], and oral-facial-digital syndrome type 1 (OFD1; MIM #311200) or type 6 (MIM #277170), thus suggesting that various clinically distinct ciliopathies may be allelic.