has material basis in germline mutation in HMX1 oculoauricular syndrome https://www.malacards.org/card/oculoauricular_syndrome MESH:C567416 Orphanet:157962 MEDGEN:393758 UMLS:C2677500 OMIM:612109 OCACS oculoauricular syndrome DOID:0060482 Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia). GARD:0016988 MONDO:0012802 syndromic microphthalmia