Inpp5eD/D mice (deletion of exons 7 and 8) are embryonic and postnatal lethal with ciliopathy features, including bilateral anophthalmos, postaxial hexadactyly, renal cyst, skeletal abnormalities, as well as cerebral developmental defects, suggesting that INPP5E is essential for primary cilium-mediated functions [23]. The gene discussed is INPP5E; the disease is ciliopathy.