Mutations in a 5-position phosphatase (Inpp5e) lead to alterations in the distribution of ciliary PIP2 and cause Joubert's syndrome, a human ciliopathy characterized by impaired Hh signaling and human birth defects (Bielas et al., 2009, Chávez et al., 2015, Garcia-Gonzalo et al., 2015, Nakatsu, 2015). The gene discussed is INPP5E; the disease is ciliopathy.