Finally, it is striking that many of the clinical features found in our probands (including cerebellar hypoplasia, retinal dystrophy, Leber amaurosis, DD, ID, cataract, sensorineural deafness, and hypogonadism) occur in ciliopathies, and our data support the proposed role of VPS4A in controlling primary cilium morphogenesis.16 The gene discussed is VPS4A; the disease is ciliopathy.