ORPHA:730406
Genetic syndrome with a posterior fossa cystic 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 posterior fossa cystic malformation as a major feature | |
| fr | Syndrome génétique avec une malformation kystique de la fosse postérieure comme manifestation majeure | |
| de | Genetisches Syndrom mit zystischer Fehlbildung der Fossa posterior als Hauptmerkmal | |
| es | Síndrome genético con malformación quística de la fosa posterior como característica principal | |
| it | Sindrome genetica con malformazione cistica della fossa posteriore come caratteristica principale | |
| nl | Genetisch syndroom met cysteuze malformatie van fossa cranialis posterior als hoofdkenmerk | Genetisch syndroom met cysteuze malformatie van achterste schedelgroeve als hoofdkenmerk |
| pt | Genetic syndrome with a posterior fossa cystic malformation as a major feature | |
| pl | Genetic syndrome with a posterior fossa cystic malformation as a major feature | |
| cs | Genetic syndrome with a posterior fossa cystic malformation as a major feature |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:730390Genetic posterior fossa cystic malformation
rare genetic diseases
Children (4):
- ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
- ORPHA:269570Genetic syndrome with a Dandy-Walker malformation as a major feature
- ORPHA:401959Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
- ORPHA:2703Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
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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/730406
- This record as JSON: /data/d/730406.json