{"orpha":200,"name":"Isolated corpus callosum agenesis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-200/","orphanet_url":"https://www.orpha.net/en/disease/detail/200","names":{"fr":{"name":"Agénésie isolée du corps calleux","definition":"Malformation cérébrale rare non syndromique, caractérisée par l'absence congénitale partielle ou complète du corps calleux. Les patients sont souvent asymptomatiques, mais peuvent présenter une déficience intellectuelle, une déficience visuelle, un retard de langage, des crises convulsives, des difficultés à s'alimenter, un défaut de coordination main-oeil et des troubles du comportement. Les patients peuvent avoir un quotient intellectuel normal tout en présentant des troubles cognitifs spécifiques, tels qu'un déficit de transfert interhémisphérique des informations sensorimotrices et de vitesse de traitement cognitif et des déficits dans le raisonnement complexe et la résolution de problèmes nouveaux."},"de":{"name":"Corpus callosum-Agenesie, isolierte Form","definition":"Eine seltene nicht-syndromale zerebrale Fehlbildung, die durch ein angeborenes teilweises oder vollständiges Fehlen des Corpus callosum gekennzeichnet ist. Die Patienten sind häufig asymptomatisch, können aber auch eine Intelligenzminderung, Sehstörungen, eine verzögerte Sprachentwicklung, Krampfanfälle, Schwierigkeiten bei der Nahrungsaufnahme, eine gestörte Hand-Augen-Koordination und Verhaltensauffälligkeiten aufweisen. Die Patienten können einen normalen Intelligenzquotienten haben, aber spezifische kognitive Defizite aufweisen, wie z. B. eine reduzierte interhemisphärische Übertragung sensomotorischer Informationen, eine reduzierte kognitive Verarbeitungsgeschwindigkeit und Defizite beim komplexen Denken und beim Lösen neuer Probleme."},"es":{"name":"Agenesia aislada del cuerpo calloso","definition":"Es una malformación cerebral no sindrómica poco frecuente caracterizada por la ausencia congénita parcial o completa del cuerpo calloso. Los pacientes, a menudo, permanecen asintomáticos, aunque también pueden presentar discapacidad intelectual, disfunción visual, retraso en el desarrollo del habla, crisis epilépticas, dificultades en la alimentación, afectación de la coordinación óculo-manual y alteraciones de la conducta. Los pacientes pueden presentar un coeficiente intelectual normal, aunque con déficits cognitivos específicos, tales como una disminución de la transferencia de información sensitivo-motora interhemisferica y de la velocidad de procesamiento cognitivo, y déficits en el razonamiento complejo y en la resolución de nuevos problemas."},"it":{"name":"Agenesia isolata del corpo calloso","definition":"Si tratta di una malformazione cerebrale non sindromica rara, caratterizzata dall'agenesia congenita, parziale o completa, del corpo calloso. I pazienti sono spesso asintomatici, ma possono presentare disabilità intellettiva, compromissione della vista, ritardo dello sviluppo del linguaggio, crisi epilettiche, difficoltà di alimentazione, compromissione della coordinazione occhio-mano e anomalie comportamentali. I pazienti possono presentare un quoziente intellettivo normale seppure con deficit cognitivi specifici, come un ridotto trasferimento interemisferico delle informazioni sensitivo-motorie, una ridotta velocità di elaborazione cognitiva e deficit nel ragionamento complesso e nella risoluzione dei nuovi problemi."},"nl":{"name":"Geïsoleerde agenesie van corpus callosum","definition":"Een zeldzame niet-syndromale cerebrale malformatie, gekarakteriseerd door congenitale, gedeeltelijke of volledige afwezigheid van corpus callosum. Patiënten zijn vaak asymptomatisch, maar kunnen zich ook presenteren met intellectuele achterstand, verlies van gezichtsvermogen, vertraagde spraakontwikkeling, insulten, voedingsproblemen, verstoorde oog-handcoördinatie, en gedragsafwijkingen. Patiënten hebben mogelijk een normaal intelligentiequotiënt terwijl ze specifieke cognitieve functiestoornissen vertonen, zoals gereduceerde interhemisferische transfer van sensorimotorische informatie, verminderde cognitieve verwerkingssnelheid, en deficiëntie van complex redeneervermogen en probleemoplossend vermogen voor nieuwe problemen."},"pt":{"name":"Agenesia do corpo caloso isolada"},"pl":{"name":"Izolowana agnezja działa modzelowatego"},"cs":{"name":"Izolované ageneze corpus callosum"},"uk":{"name":"Ізольована агенезія мозолистого тіла","definition":"A rare non-syndromic cerebral malformation characterized by congenital partial or complete absence of the corpus callosum. Patients are often asymptomatic but may also present with intellectual disability, visual impairment, delayed speech development, seizures, feeding difficulties, impaired hand-eye coordination, and behavioral abnormalities. Patients may have a normal intelligence quotient while exhibiting specific cognitive deficits, such as reduced interhemispheric transfer of sensorimotor information, reduced cognitive processing speed, and deficits in complex reasoning and novel problem-solving."},"zh":{"name":"孤立型胼胝体发育不全"},"tr":{"name":"İzole korpus kallozum agenezisi"}},"xrefs":[{"source":"ICD-10","code":"Q04.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA05.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2012425106"},{"source":"MONDO","code":"0026419","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"26419","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"9022","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D061085","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0175754","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":199633,"name":"Non-syndromic cerebral malformation","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Hungary","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"United States","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.37,"area":"United States","status":"Validated","source":"18642362[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Hungary","status":"Validated","source":"ORPHANET_21555052[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-10-23","source":"35274783[PMID]_22284958[PMID]_33517337[PMID]_31082030[PMID]","terms":[{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031843","label":"Bradyphrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010522","label":"Dyslexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000915","label":"Dysorthography","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002370","label":"Poor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null}]}}