{"orpha":1084,"name":"Isolated lissencephaly type 1 without known genetic defects","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1084/","orphanet_url":"https://www.orpha.net/en/disease/detail/1084","names":{"fr":{"name":"Lissencéphalie type 1 inexpliquée","definition":"La lissencéphalie type 1 inexpliquée appartient au groupe génétiquement hétérogène de lissencéphalies classiques. Il s'agit d'un diagnostic d'exclusion, en l'absence de malformations associées ou d'antécédent familial, et en l'absence de mutations de gènes connus pour être impliqués dans la lissencéphalie classique. Au niveau clinique, les patients présentent les caractéristiques fréquentes de la lissencéphalie classique, telles qu'un retard de développement, un déficit intellectuel et des convulsions."},"de":{"name":"Lissenzephalie Typ 1, isolierte, ohne bekannten genetischen Defekt"},"es":{"name":"Lisencefalia aislada tipo 1 sin anomalías genéticas conocidas","definition":"La lisencefalia tipo 1 aislada sin defectos genéticos conocidos pertenece al grupo genéticamente heterogéneo de la lisencefalia clásica. Es un diagnóstico de exclusión, cuando no existen malformaciones asociadas ni antecedentes familiares, y en ausencia de mutaciones de genes que se sabe están implicados en la lisencefalia clásica. Clínicamente, los pacientes presentan las características comunes de la lisencefalia clásica, como retraso del desarrollo, discapacidad intelectual y convulsiones."},"it":{"name":"Lissencefalia isolata tipo 1, senza difetti genetici noti"},"nl":{"name":"Geïsoleerde lissencefalie type 1 zonder gekende genetische defecten","definition":"Geïsoleerde lissencefalie type 1 zonder bekende genetische defecten behoort tot de genetisch heterogene groep van klassieke lissencefalie (zie deze term). Indien noch geassocieerde malformaties, noch een familiegeschiedenis aanwezig zijn en bij afwezigheid van mutaties van genen die betrokken zijn bij klassieke lissencefalie, wordt de diagnose door uitsluiting gesteld. Patiënten presenteren zich klinisch met de algemene kenmerken van klassieke lissencefalie, zoals vertraging in de ontwikkeling, verstandelijke handicap en aanvallen."},"pt":{"name":"Lisencefalia tipo 1 isolada, sem alterações genéticas conhecidas"},"pl":{"name":"Izolowana lizencefalia typu 1 bez znanych wad genetycznych"},"cs":{"name":"Izolovaná lisencefalie 1. typu bez známých genetických defektů"},"uk":{"name":"Ізольована лісенцефалія типу 1 без відомих генетичних дефектів","definition":"Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly (see this term). It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures."},"zh":{"name":"无已知基因缺陷孤立型无脑回畸形1型"},"tr":{"name":"Bilinen genetik defektleri olmayan izole lizensefali tip 1"}},"xrefs":[{"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":"80358651"},{"source":"MONDO","code":"0015205","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275151","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":102009,"name":"Classic lissencephaly","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-18","source":"19302951[PMID]_18809027[PMID]","terms":[{"hpo":"HP:0031882","label":"Agyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011201","label":"EEG with changes in voltage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100952","label":"Enlarged sylvian cistern","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002282","label":"Gray matter heterotopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020219","label":"Motor seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null}]}}