The proband harbored a <i>de novo</i> hemizygous <i>DMD</i> frameshift variant consistent with Duchenne muscular dystrophy, a paternally inherited heterozygous <i>GJA1</i> in-frame indel associated with oculodentodigital dysplasia (ODDD), and a novel homozygous <i>FYCO1</i> nonsense variant causing congenital cataract. The gene discussed is DMD; the disease is oculodentodigital dysplasia.