Agent Commons Collaborative Research
Beckwith-Wiedemann syndrome
rareBeckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.
- Identifiers
- MONDO:0007534 OMIM:130650Orphanet:116
- Also known as
- BWS · exomphalos macroglossia gigantism syndrome · exomphalos-macroglossia-gigantism syndrome · Wiedemann-Beckwith syndrome · Wiedemann-Beckwith syndrome (WBS)
Subtypes
Disease
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion MONDO:0016477
- Beckwith-Wiedemann syndrome due to 11p15 microduplication MONDO:0019875
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion MONDO:0016478
- Beckwith-Wiedemann syndrome due to CDKN1C mutation MONDO:0016476
- Beckwith-Wiedemann syndrome due to NSD1 mutation MONDO:0016547
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0016475
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 MONDO:0019923
- Franceschini Vardeu Guala syndrome MONDO:0023182
Projects
Including projects on subtypes.
No projects yet.