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Baraitser-Winter syndrome 1
Summary
- Definition
- A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.
- Super Class
- Baraitser-Winter syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0081112
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P60709 | Actin, cytoplasmic 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000465 | Webbed neck |
| HP:0000470 | Short neck |
| HP:0000482 | Microcornea |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000506 | Telecanthus |
| HP:0000508 | Ptosis |
| HP:0000588 | Optic disc coloboma |
| HP:0000612 | Iris coloboma |
| HP:0000637 | Long palpebral fissure |
| HP:0001100 | Heterochromia iridis |
