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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7Z4S6 | Kinesin-like protein KIF21A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000508 | Ptosis |
| HP:0000542 | Impaired ocular adduction |
| HP:0000473 | Torticollis |
| HP:0000518 | Cataract |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0000539 | Abnormality of refraction |
| HP:0000486 | Strabismus |
| HP:0000565 | Esotropia |
| HP:0000512 | Abnormal electroretinogram |
| HP:0001477 | Compensatory chin elevation |
