Term Name: | congenital fibrosis of the extraocular muscles 3C |
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Synonyms: | |
Definition: | A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11). |
Ontology: | Human Disease [DOID:0081019] ( DOID:0081019 ) |