Term Name: congenital fibrosis of the extraocular muscles 2
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 )

Relationships
is a type of: autosomal recessive disease congenital fibrosis of the extraocular muscles