{"orpha":2816,"name":"Spastic paraplegia-epilepsy-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["SPEMR"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Classic glucose transporter type 1 deficiency syndrome","url":"https://raremap.alftech.space/d/ORPHA-2816/","orphanet_url":"https://www.orpha.net/en/disease/detail/2816","names":{"fr":{"name":"Syndrome de paraplégie spastique-épilepsie-déficience intellectuelle","synonyms":["SPEMR"]},"de":{"name":"Spastische Paraplegie-Epilepsie-Intelligenzminderung-Syndrom","synonyms":["SPEMR"]},"es":{"name":"Síndrome de paraplejía espástica-epilepsia-discapacidad intelectual","synonyms":["SPEMR"]},"it":{"name":"Sindrome paraplegia spastica-epilessia-disabilità intellettiva","synonyms":["SPEMR"]},"nl":{"name":"Spastische paraplegie - epilepsie - intellectuele achterstand-syndroom","synonyms":["SPEMR"]},"pt":{"name":"Síndrome de paraplegia espástica-epilepsia-perturbação do desenvolvimento intelectual","synonyms":["SPEMR"]},"pl":{"name":"Paraplegia spastyczna - padaczka - niepełnosprawność intelektualna","synonyms":["SPERM"]},"cs":{"name":"Syndrom zahrnující spastickou paraplegii, epilepsii a mentální retardaci","synonyms":["SPERM"]},"uk":{"name":"Синдром спастичної параплегії-епілепсії-інтелектуальної недостатності","synonyms":["SPEMR"]},"zh":{"name":"痉挛性截瘫-癫痫-智力障碍综合征","synonyms":["SPEMR"]},"tr":{"name":"Spastik parapleji-epilepsi-zihinsel yetersizlik sendromu","synonyms":["SPEMR"]}},"xrefs":[{"source":"OMIM","code":"182610","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4915","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":71277,"name":"Classic glucose transporter type 1 deficiency syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}