As confirmation, Feberwee et al. (2014) indeed found two patients affected with OFCD carrying BCOR point mutations, one affected by CP and mild HD while the other by CP and OD, although a concrete evidence that these two phenotypes are ‘typical’ features of OFCD syndrome is lacking (Table 2; Supplementary Table 4). This evidence concerns the gene BCOR and microphthalmia, syndromic 2.