{"orpha":1497,"name":"X-linked complicated corpus callosum dysgenesis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A congenital, X-linked, clinical subtype of L1 syndrome, characterized by variable spastic paraplegia, mild to moderate intellectual disability, and dysplasia, hypoplasia or aplasia of the corpus callosum. In this subtype hydrocephalus, adducted thumbs, or absent speech are not observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1497/","orphanet_url":"https://www.orpha.net/en/disease/detail/1497","names":{"fr":{"name":"Agénésie complexe du corps calleux liée à l'X","definition":"Sous-type clinique congénital, lié à l'X, du syndrome L1 caractérisé par une paraplégie spastique variable, une déficience intellectuelle légère à modérée et une dysplasie, une hypoplasie ou une aplasie du corps calleux. Chez les patients atteints de ce sous-type du syndrome, aucun cas d'hydrocéphalie, de pouces en adduction et d'absence de langage n'est observé."},"de":{"name":"Corpus callosum-Dysgenesie, komplizierte, X-chromosomale","definition":"Ein angeborener X-chromosomaler klinischer Subtyp des L1-Syndroms, der durch eine variable spastische Paraplegie, eine leichte bis mittlere Intelligenzminderung und eine Dysplasie, Hypoplasie oder Aplasie des Corpus callosum gekennzeichnet ist. Bei diesem Subtyp werden Hydrozephalus, adduzierte Daumen oder fehlende Sprache nicht beobachtet."},"es":{"name":"Disgenesia del cuerpo calloso compleja ligada al cromosoma X","definition":"La disgenesia del cuerpo calloso compleja ligada al X es un término histórico utilizado para describir un fenotipo considerado en la actualidad como parte del espectro clínico del síndrome L1 ligado al X (síndrome L1, consulte este término). El trastorno está caracterizado por una paraplejia espástica variable, déficit intelectual de leve a moderado, y displasia, hipoplasia o aplasia de cuerpo calloso."},"it":{"name":"Agenesia complessa del corpo calloso legata all'X","definition":"Con il termine disgenesia complicata del corpo calloso legata all'X si definisce un fenotipo che oggi si considera parte dello spettro clinico della sindrome L1 (sindrome L1; si veda questo termine). La malattia è caratterizzata da paraplegia spastica variabile, deficit cognitivo lieve-moderato e displasia, ipoplasia o aplasia del corpo calloso."},"nl":{"name":"X-gebonden gecompliceerde dysgenesie van corpus callosum","definition":"Een congenitaal, X-gebonden, klinisch subtype van L1-syndroom, gekarakteriseerd door variabele spastische paraplegie, milde tot matige intellectuele achterstand, en dysplasie, hypoplasie of aplasie van corpus callosum. Bij dit subtype worden hydrocefalie, geadduceerde duimen en afwezigheid van spraak niet waargenomen."},"pt":{"name":"Disgenesia do corpo caloso complexa ligada ao X"},"pl":{"name":"Złożona dysgenezja ciała modzelowatego sprzężona z chromosomem X"},"cs":{"name":"X-vázaná komplikovaná dysgeneze corpus callosum"},"uk":{"name":"Х-зчеплена ускладнена дисгенезія мозолистого тіла","definition":"A congenital, X-linked, clinical subtype of L1 syndrome, characterized by variable spastic paraplegia, mild to moderate intellectual disability, and dysplasia, hypoplasia or aplasia of the corpus callosum. In this subtype hydrocephalus, adducted thumbs, or absent speech are not observed."},"zh":{"name":"X连锁复杂性胼胝体发育不良"},"tr":{"name":"X'e bağlı komplike korpus kallozum disgenezi"}},"xrefs":[{"source":"OMIM","code":"304100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1765391162"},{"source":"MONDO","code":"0010569","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1839909","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":275543,"name":"L1 syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"L1CAM","name":"L1 cell adhesion molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301657[PMID]","hgnc":"6470","ensembl":"ENSG00000198910","omim":"308840","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null}]}}