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congenital fibrosis of the extraocular muscles 1
Summary
- Definition
- A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12.
- Super Class
- autosomal dominant disease congenital fibrosis of the extraocular muscles
External Links
- Disease Ontology
- DOID:0081015
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002194 | Delayed gross motor development |
| HP:0000646 | Amblyopia |
| HP:0009916 | Anisocoria |
| HP:0000565 | Esotropia |
| HP:0001477 | Compensatory chin elevation |
| HP:0000508 | Ptosis |
| HP:0001249 | Intellectual disability |
| HP:0007831 | Nonprogressive restrictive external ophthalmoplegia |
| HP:0000518 | Cataract |
| HP:0011347 | Abnormality of ocular abduction |
