We also discuss the contribution of INPP5E to organ development and disease pathogenesis, including ciliopathies, Joubert syndrome, polycystic kidney disease (PKD), sonic hedgehog (Shh) medulloblastoma, cystic renal dysplasia, hepatic fibrosis, colorectal carcinoma, inherited retinal degeneration (IRD), MORM syndrome, and inflammation. Here, INPP5E is linked to Joubert syndrome.