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congenital fibrosis of the extraocular muscles 3A
Summary
- Definition
- A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.
- Super Class
- autosomal dominant disease congenital fibrosis of the extraocular muscles
External Links
- Disease Ontology
- DOID:0081017
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13509 | Tubulin beta-3 chain |
- 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 |
