Similarly, the microphthalmia phenotype in Aff4−/− E15.5 embryos is consistent with the higher incidence of eye anomalies and cataracts in patients with CHOPS syndrome many of whom also exhibit heterozygous mutations of the AFF4 gene [21]. This evidence concerns the gene AFF4 and Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome.