OTX2 with Microphthalmia, syndromic 5 (AD) (PMIM: 610125); Pituitary hormone deficiency, combined, 6 (AD) (PMIM: 613986); Retinal dystrophy, early-onset, with or without pituitary dysfunction (AD) (PMIM: 610125). AS1 with susceptibility to Asthma (PMIM: 607277). Here, OTX2 is linked to Retinal dystrophy.