Term Name: congenital fibrosis of the extraocular muscles 3C
Synonyms:
Definition: A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11).
Ontology: Human Disease [DOID:0081019]   ( DOID:0081019 )

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