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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
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0001302 | Pachygyria |
| HP:0001328 | Specific learning disability |
| HP:0001339 | Lissencephaly |
| HP:0001387 | Joint stiffness |
| HP:0001508 | Failure to thrive |
| HP:0001510 | Growth delay |
| HP:0002000 | Short columella |
