In addition to cranial NTDs, mice lacking Inpp5E exhibit features of ciliopathies such as polycystic kidneys and polydactyly (Jacoby et al., 2009), while mutations in INPP5E are found in the ciliopathies Joubert Syndrome and MORM Syndrome (Bielas et al., 2009; Jacoby et al., 2009). Here, INPP5E is linked to Joubert syndrome.