Davis et al. identified in a patient with aniridia, autism and intellectual disability a 1.3 Mb deletion, situated approximately 35 kb downstream of the PAX6 gene, comprising the ELP4, DPH4, DCDC1, DCDC5, MPPED2, and IMMP1L genes (Davis et al. 2008). The gene discussed is ELP4; the disease is isolated aniridia.