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- B62d54a6de4e0df57d9ee75b8cd1483e1 hasDbXref "Orphanet:83619" @default.
- B62d54a6de4e0df57d9ee75b8cd1483e1 type Axiom @default.
- B62d54a6de4e0df57d9ee75b8cd1483e1 annotatedProperty IAO_0000115 @default.
- B62d54a6de4e0df57d9ee75b8cd1483e1 annotatedSource MONDO_0019387 @default.
- B62d54a6de4e0df57d9ee75b8cd1483e1 annotatedTarget "Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant." @default.