congenital fibrosis of the extraocular muscles 2 (DOID:0081016)
Alliance: disease page
Alt IDs: OMIM:602078
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.