{"orpha":268943,"name":"Unilateral polymicrogyria","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268943/","orphanet_url":"https://www.orpha.net/en/disease/detail/268943","names":{"fr":{"name":"Polymicrogyrie unilatérale","definition":"Malformation corticale cérébrale caractérisée par un plissement cortical unilatéral excessif et une stratification corticale anormale. Elle comprend deux sous-types en fonction des zones touchées&nbsp;: polymicrogyrie unilatérale hémisphérique et polymicrogyrie focale."},"de":{"name":"Polymikrogyrie, unilaterale"},"es":{"name":"Polimicrogiria unilateral","definition":"Es una malformación cerebral cortical caracterizada por excesivo plegamiento cortical unilateral y estratificación cortical anómala. Comprende dos subtipos dependiendo de las áreas afectadas: polimicrogiria unilateral hemisférica y polimicrogiria focal."},"it":{"name":"Polimicrogiria monolaterale","definition":"La polimicrogiria monolaterale è una malformazione della corteccia cerebrale, caratterizzata da un aumento monolaterale della plicatura della corteccia e anomalie della stratificazione corticale. Comprende due sottotipi, a seconda delle aree interessate: la polimicrogiria emisferica monolaterale e la polimicrogiria focale (si vedano questi termini)."},"nl":{"name":"Unilaterale polymicrogyrie","definition":"Unilaterale polymicrogyrie is een cerebrale corticale malformatie die gekarakteriseerd wordt door unilaterale overmatige corticale vouwing en abnormale corticale laagvorming. Het bestaat uit twee subtypes, afhankelijk van de gebieden die getroffen worden: unilaterale hemisferische en focale polymicrogyrie (zie deze termen)."},"pt":{"name":"Polimicrogiria unilateral"},"pl":{"name":"Drobnozakrętowość/Polimikrogyria jednostronna"},"cs":{"name":"Unilaterální polymikrogyrie","synonyms":["Nonlissencefalická kortikální dysplázie unilaterální"]},"uk":{"name":"Одностороння полімікрогірія","definition":"Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria (see these terms)."},"zh":{"name":"单侧多小脑回","definition":"单侧多发性脑回是一种大脑皮质畸形，其特征是单侧皮质过度折叠和异常皮质分层。根据受影响的区域，它包括两个子类型:单侧半球和局灶性多微回(见该类词条)。"},"tr":{"name":"Unilateral polimikrogri"}},"xrefs":[{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA05.50","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"782302128"},{"source":"MONDO","code":"0017092","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4024960","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":35981,"name":"Polymicrogyria","classifications":[147,156,181]}],"children":[{"orpha":268947,"name":"Unilateral focal polymicrogyria","type":"Clinical subtype"},{"orpha":101071,"name":"Unilateral hemispheric polymicrogyria","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-25","source":"20198472[PMID_26094545[PMID]_15626537[PMID]_20403963[PMID]_11376999[PMID]_29059488[PMID]_30584075[PMID]_28300030[PMID]","terms":[{"hpo":"HP:0002539","label":"Cortical dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007024","label":"Pseudobulbar paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002510","label":"Spastic tetraplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002533","label":"Abnormal posturing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012389","label":"Appendicular hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001312","label":"Giant somatosensory evoked potentials","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008610","label":"Infantile sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012650","label":"Perisylvian polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006548","label":"Pulmonary arteriovenous malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001335","label":"Bimanual synkinesia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Very rare (<4-1%)","criteria":null}]}}