In this study, heterozygous URDVs identified in B9D1, CC2D2A, INPP5E, KIAA0586, KIF7, MKS1, NPHP3, PIBF1, RPGRIP1L, and TMEM67 belong to ciliopathy genes known to contribute to autosomal recessive syndromes MKS and JBTS in humans. The gene discussed is INPP5E; the disease is ciliopathy.