A 1.3 Mb deletion (including seven annotated genes: metallophosphoesterase domain containing 2 (MPPED2), doublecortin domain containing 5 (DCDC5), DCDC1, DNAJC24, IMMP1L, zinc finger CLS domain containing 3 (DPH4), and ELP4) has been characterized that starts 35 kb from the 3′ end of PAX6 in a patient with aniridia, autism, and mental retardation [11]. The gene discussed is PAX6; the disease is isolated aniridia.