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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:0001274 | Agenesis of corpus callosum |
| HP:0000204 | Cleft upper lip |
| HP:0000567 | Chorioretinal coloboma |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0001650 | Aortic valve stenosis |
| HP:0000202 | Orofacial cleft |
| HP:0000369 | Low-set ears |
| HP:0001290 | Generalized hypotonia |
| HP:0000219 | Thin upper lip vermilion |
