ORPHA:238613
OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutation
inactive · referred to ORPHA:821Sotos syndrome
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Status
- inactive
- Flag
- Obsolete entity
This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Sotos syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutation | |
| fr | OBSOLETE : Syndrome de Beckwith-Wiedemann dû à une mutation de NSD1 | |
| de | OBSOLET: Beckwith-Wiedemann-Syndrom durch NSD1-Genmutation | |
| es | OBSOLETO: Síndrome de Beckwith-Wiedemann por una mutación en el gen NSD1 | |
| it | OBSOLETO: Sindrome di Beckwith-Wiedemann da mutazioni di NSD1 | |
| nl | OBSOLEET: Syndroom van Beckwith-Wiedemann door NSD1-mutatie | |
| pt | OBSOLETO: Síndrome de Beckwith-Wiedemann por mutação no gene NSD1 | |
| pl | NIEAKTUALNE: Zespół Beckwitha-Wiedemanna spowodowany mutacją NSD1 | |
| cs | NEAKTUÁLNÍ: Beckwithův-Wiedemannův syndrom způsobený mutací NSD1 | NEAKTUÁLNÍ: Beckwith-Wiedemannův syndrom způsobený mutací NSD1 |
| uk | Синдром Беквіта-Відемана внаслідок мутації NSD1 | |
| zh | NSD1基因突变性贝-威综合征 | |
| tr | NSD1 mutasyonuna bağlı Beckwith-Wiedemann sendromu |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Not placed in any Orphanet classification in this release.
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/238613
- This record as JSON: /data/d/238613.json