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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:0002120 | Cerebral cortical atrophy |
| HP:0002126 | Polymicrogyria |
| HP:0002162 | Low posterior hairline |
| HP:0002300 | Mutism |
| HP:0002326 | Transient ischemic attack |
| HP:0002381 | Aphasia |
| HP:0002553 | Highly arched eyebrow |
| HP:0002650 | Scoliosis |
| HP:0002652 | Skeletal dysplasia |
| HP:0003189 | Long nose |
