ORPHA:730696
Genetic syndrome with a brainstem malformation as a major feature
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genetic syndrome with a brainstem malformation as a major feature | |
| fr | Syndrome génétique avec malformation du tronc cérébral comme manifestation majeure | |
| de | Genetisches Syndrom mit Hirnstammfehlbildung als Hauptmerkmal | |
| es | Síndrome genético con malformación del tronco encefálico como característica principal | |
| it | Sindrome genetica con malformazione del tronco encefalico come caratteristica principale | |
| nl | Genetisch syndroom met malformatie van hersenstam als hoofdkenmerk | |
| pt | Genetic syndrome with a brainstem malformation as a major feature | |
| pl | Genetic syndrome with a brainstem malformation as a major feature | |
| cs | Genetic syndrome with a brainstem malformation as a major feature |
2
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:730382Genetic midbrain-hindbrain malformation
rare genetic diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
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/730696
- This record as JSON: /data/d/730696.json