{"orpha":730696,"name":"Genetic 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-730696/","orphanet_url":"https://www.orpha.net/en/disease/detail/730696","names":{"fr":{"name":"Syndrome génétique avec malformation du tronc cérébral comme manifestation majeure"},"de":{"name":"Genetisches Syndrom mit Hirnstammfehlbildung als Hauptmerkmal"},"es":{"name":"Síndrome genético con malformación del tronco encefálico como característica principal"},"it":{"name":"Sindrome genetica con malformazione del tronco encefalico come caratteristica principale"},"nl":{"name":"Genetisch syndroom met malformatie van hersenstam als hoofdkenmerk"},"pt":{"name":"Genetic syndrome with a brainstem malformation as a major feature"},"pl":{"name":"Genetic syndrome with a brainstem malformation as a major feature"},"cs":{"name":"Genetic 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":730382,"name":"Genetic midbrain-hindbrain malformation","classifications":[156]}],"children":[{"orpha":2744,"name":"Horizontal gaze palsy with progressive scoliosis","type":"Disease"},{"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}