Baraitser-Winter syndrome
Information
- Disease name
- Baraitser-Winter syndrome
- Disease ID
- DOID:0060229
- Description
- "A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present." [url:http\://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| ACTB | 7 | 5,526,409 | 5,530,601 | 12 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:5279
- Cross Reference ID (Disease Ontology)
- MIM:PS243310
- Cross Reference ID (Disease Ontology)
- ORDO:2995
- OMIM Phenotype Series Number (OMIM)
- PS243310