{"orpha":99796,"name":"Subcortical band heterotopia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Subcortical laminar heterotopia"],"definition":"A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to developmental delay with severe intellectual disability, seizures and behavioral problems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99796/","orphanet_url":"https://www.orpha.net/en/disease/detail/99796","names":{"fr":{"name":"Hétérotopie sous-corticale en bandes","synonyms":["Hétérotopie laminaire sous-corticale"],"definition":"Malformation cérébrale non syndromique rare due à une anomalie de la migration neuronale, caractérisée par des manifestations cliniques variables selon la localisation, la taille et l'épaisseur des bandes sous-corticales. La présentation clinique varie, d'une déficience cognitive légère à un retard de développement avec déficience intellectuelle sévère, convulsions et troubles du comportement."},"de":{"name":"Bandheterotopie, subkortikale","synonyms":["Subkortikale laminare Heterotopie (SCLH)"],"definition":"Eine seltene, nicht-syndromale zerebrale Fehlbildung, die auf eine abnorme Neuronenmigration zurückzuführen ist und je nach Lage, Größe und Dicke der subkortikalen Bänder unterschiedliche klinische Manifestationen hervorruft. Das klinische Bild reicht von leichten kognitiven Defiziten bis hin zu Entwicklungsverzögerungen mit schwerer Intelligenzminderung, Krampfanfällen und Verhaltensproblemen."},"es":{"name":"Heterotopia subcortical en banda","synonyms":["Heterotopia subcortical laminar"],"definition":"Es una malformación cerebral no sindrómica poco frecuente debida a una migración neuronal anómala y con manifestación clínica variable según la localización, tamaño y grosor de las bandas subcorticales. La presentación clínica varía desde un leve déficit cognitivo hasta un retraso del desarrollo con grave discapacidad intelectual, crisis epilépticas y trastornos de conducta."},"it":{"name":"Eterotopia a banda sottocorticale","synonyms":["Eterotopia laminare sottocorticale"],"definition":"È una malformazione cerebrale non sindromica rara, causata da un'anomalia nella migrazione dei neuroni, caratterizzata da segni clinici variabili, che dipendono dalla localizzazione, dalle dimensioni e dallo spessore delle bande sottocorticali. Il quadro clinico varia dal lieve deficit cognitivo al ritardo dello sviluppo associato alla disabilità intellettiva grave, alle crisi epilettiche e ai problemi comportamentali."},"nl":{"name":"Subcorticale bandheterotopie","synonyms":["Subcorticale laminaire heterotopie"],"definition":"Een zeldzame, niet-syndromale cerebrale malformatie als gevolg van abnormale neuronale migratie gekarakteriseerd door een variabele klinische manifestatie afhankelijk van de locatie, omvang en dikte van subcorticale banden. De klinische presentatie gaat van milde cognitieve beperking tot ontwikkelingsachterstand met ernstige intellectuele achterstand, insulten en gedragsproblemen."},"pt":{"name":"Heterotopia subcortical em banda"},"pl":{"name":"Podkorowa heterotopia linijna","synonyms":["Podkorowa heterotopia warstwowa"]},"cs":{"name":"Subkortikální pruhovitá heterotopie","synonyms":["Subkortikální laminární heterotopie"]},"uk":{"name":"Підкіркова смугова гетеротопія","synonyms":["Підкіркова ламінарна гетеротопія"],"definition":"A rare, non-syndromic cerebral malformation due to abnormal neuronal migration characterized by variable clinical manifestation depending on the location, size and thickness of subcortical bands. Clinical presentation ranges from mild cognitive deficit to developmental delay with severe intellectual disability, seizures and behavioral problems."},"zh":{"name":"皮层下带状灰质异位症","synonyms":["皮质下板层异位"],"definition":"皮层下带状灰质异位症一种罕见的非综合征性脑畸形，由神经元异常迁移引起，临床表现因皮层下带状灰质的位置、大小和厚度不同而不同。临床表现从轻度认知障碍到发育迟缓，并伴有严重的智力障碍、癫痫发作和行为问题。"},"tr":{"name":"Subkortikal bant heterotopisi","synonyms":["Subkortikal laminer heterotopya"]}},"xrefs":[{"source":"OMIM","code":"300067","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"600348","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607432","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"525786944"},{"source":"MONDO","code":"0020491","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848201","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1904","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":163209,"name":"Non-syndromic cerebral malformation due to abnormal neuronal migration","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"DCX","name":"doublecortin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2714","ensembl":"ENSG00000077279","omim":"300121","loci":["Xq23"]},{"symbol":"EML1","name":"EMAP like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24859200[PMID]","hgnc":"3330","ensembl":"ENSG00000066629","omim":"602033","loci":["14q32.2"]},{"symbol":"PAFAH1B1","name":"platelet activating factor acetylhydrolase 1b regulatory subunit 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"20301752[PMID]","hgnc":"8574","ensembl":"ENSG00000007168","omim":"601545","loci":["17p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Unknown","X-linked recessive"],"onset":[],"prevalence":[],"phenotypes":null}