Term Name: | congenital fibrosis of the extraocular muscles 2 |
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Synonyms: | |
Definition: | A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13. |
Ontology: | Human Disease [DOID:0081016] ( DOID:0081016 ) |