Referring to the patient’s iris coloboma, it is known that homozygous pathogenic mutations in the FKRP gene, which was haploinsufficient in our patient, are responsible for three different forms of muscular dystrophy-dystroglycanopathies (MDDG), among which is MDDGA5, or Walker–Warburg syndrome [30,31], which can present, among other features, eye abnormalities such as iris coloboma [31]. The gene discussed is FKRP; the disease is coloboma of iris.