Also large deletions encompassing OTX2 involving also BMP4 were previously described associated with syndromic anophtalmia phenotype including microcephaly, sensorineural deafness, abnormalities of extremities, cryptorchidism, partial callosal agenesis, cerebellar and pituitary abnormalities, and developmental delay [10]. The gene discussed is OTX2; the disease is Global developmental delay.