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congenital stationary night blindness autosomal dominant 2
Summary
- Synonym
-
- CSNBAD2
- Rambusch type congenital stationary night blindness
- Definition
- A congenital stationary night blindness characterized by autosomal dominant inhertance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16.
- Super Class
- autosomal dominant disease congenital stationary night blindness
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000551 | Color vision defect |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0000540 | Hypermetropia |
| HP:0000662 | Nyctalopia |
| HP:0000486 | Strabismus |
| HP:0007663 | Reduced visual acuity |
| HP:0000545 | Myopia |
| HP:0007984 | Electronegative electroretinogram |
| HP:0000639 | Nystagmus |
| HP:0001098 | Abnormal fundus morphology |
