{"orpha":729519,"name":"Syndrome with a brainstem malformation as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"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.","url":"https://raremap.alftech.space/d/ORPHA-729519/","orphanet_url":"https://www.orpha.net/en/disease/detail/729519","names":{"fr":{"name":"Syndrome avec malformation du tronc cérébral comme manifestation majeure"},"de":{"name":"Syndrom mit Hirnstammfehlbildung als Hauptmerkmal"},"es":{"name":"Síndrome de malformación del tronco encefálico como característica principal"},"it":{"name":"Sindrome con malformazione del tronco encefalico come caratteristica principale"},"nl":{"name":"Syndroom met malformatie van hersenstam als hoofdkenmerk"},"pt":{"name":"Syndrome with a brainstem malformation as a major feature"},"pl":{"name":"Syndrome with a brainstem malformation as a major feature"},"cs":{"name":"Syndrome with a brainstem malformation as a major feature"}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":729554,"name":"Midbrain-Hindbrain malformation","classifications":[147,181]}],"children":[{"orpha":727820,"name":"Brainstem disconnection syndrome","type":"Disease"},{"orpha":2744,"name":"Horizontal gaze palsy with progressive scoliosis","type":"Disease"},{"orpha":727881,"name":"Medullary tegmental cap dysplasia","type":"Morphological anomaly"},{"orpha":269229,"name":"Pontine tegmental cap dysplasia","type":"Morphological anomaly"},{"orpha":572013,"name":"Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome","type":"Malformation syndrome"},{"orpha":728662,"name":"Sensorineural hearing loss-brainstem malformation-motor delay-balance impairment syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}