Term Name: | congenital fibrosis of the extraocular muscles 3A |
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Synonyms: | |
Definition: | A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24. |
Ontology: | Human Disease [DOID:0081017] ( DOID:0081017 ) |