congenital fibrosis of the extraocular muscles 3A (DOID:0081017)
Alliance: disease page
Alt IDs: OMIM:600638
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.