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Baraitser-Winter syndrome 2
Summary
- Definition
- A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.
- Super Class
- Baraitser-Winter syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0081113
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000286 | Epicanthus |
| HP:0000293 | Full cheeks |
| HP:0000307 | Pointed chin |
| HP:0000316 | Hypertelorism |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000431 | Wide nasal bridge |
| HP:0000437 | Depressed nasal tip |
| HP:0000445 | Wide nose |
| HP:0000448 | Prominent nose |
