ORPHA:729519
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.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndrome with a brainstem malformation as a major feature | |
| fr | Syndrome avec malformation du tronc cérébral comme manifestation majeure | |
| de | Syndrom mit Hirnstammfehlbildung als Hauptmerkmal | |
| es | Síndrome de malformación del tronco encefálico como característica principal | |
| it | Sindrome con malformazione del tronco encefalico come caratteristica principale | |
| nl | Syndroom met malformatie van hersenstam als hoofdkenmerk | |
| pt | Syndrome with a brainstem malformation as a major feature | |
| pl | Syndrome with a brainstem malformation as a major feature | |
| cs | 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:729554Midbrain-Hindbrain malformation
rare developmental anomalies during embryogenesis; rare neurological diseases
Children (6):
- ORPHA:727820Brainstem disconnection syndrome
- ORPHA:2744Horizontal gaze palsy with progressive scoliosis
- ORPHA:727881Medullary tegmental cap dysplasia
- ORPHA:269229Pontine tegmental cap dysplasia
- ORPHA:572013Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
- ORPHA:728662Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/729519
- This record as JSON: /data/d/729519.json