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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:0000072 | Hydroureter |
| HP:0000126 | Hydronephrosis |
| HP:0000154 | Wide mouth |
| HP:0000233 | Thin vermilion border |
| HP:0000239 | Large fontanelles |
| HP:0000243 | Trigonocephaly |
| HP:0000252 | Microcephaly |
| HP:0000270 | Delayed cranial suture closure |
| HP:0000278 | Retrognathia |
| HP:0000280 | Coarse facial features |
