Three distinct syndromic diseases are linked to haploinsufficiency of OTX2, namely combined pituitary hormone deficiency 6 (CPHD6, OMIM #613986), syndromic microphthalmia 5 (MCOPS5, OMIM #610125) and otocephaly/agnathia complex [5]. The gene discussed is OTX2; the disease is syndromic microphthalmia type 5.