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congenital stationary night blindness 2A
Summary
- Synonym
-
- congenital stationary night blindness 2A X-linked
- Definition
- A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23.
- Super Class
- X-linked recessive disease congenital stationary night blindness
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9GZU5 | Nyctalopin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000551 | Color vision defect |
| HP:0000662 | Nyctalopia |
| HP:0000540 | Hypermetropia |
| HP:0007663 | Reduced visual acuity |
| HP:0000545 | Myopia |
| HP:0000639 | Nystagmus |
| HP:0007984 | Electronegative electroretinogram |
| HP:0000486 | Strabismus |
| HP:0007703 | Abnormality of retinal pigmentation |
