| Metadata | |
|---|---|
| ID | DOID:0081016 |
| Name | congenital fibrosis of the extraocular muscles 2 |
| 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. https://pubmed.ncbi.nlm.nih.gov/11600883/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |