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congenital fibrosis of the extraocular muscles 5
Summary
- Definition
- A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25.
- Super Class
- autosomal recessive disease congenital fibrosis of the extraocular muscles
External Links
- Disease Ontology
- DOID:0081020
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9BXS0 | Collagen alpha-1(XXV) chain |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000616 | Miosis |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0002126 | Polymicrogyria |
| HP:0000577 | Exotropia |
| HP:0007831 | Nonprogressive restrictive external ophthalmoplegia |
| HP:0001249 | Intellectual disability |
| HP:0011347 | Abnormality of ocular abduction |
| HP:0001491 | Congenital fibrosis of extraocular muscles |
| HP:0000565 | Esotropia |
| HP:0002194 | Delayed gross motor development |
