{"orpha":101071,"name":"Unilateral hemispheric polymicrogyria","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-101071/","orphanet_url":"https://www.orpha.net/en/disease/detail/101071","names":{"fr":{"name":"Polymicrogyrie unilatérale hémisphérique"},"de":{"name":"Polymikrogyrie, hemisphärische unilaterale"},"es":{"name":"Polimicrogiria unilateral hemisférica"},"it":{"name":"Polimicrogiria emisferica unilaterale"},"nl":{"name":"Unilaterale hemisferische polymicrogyrie"},"pt":{"name":"Polimicrogiria, unilateral, do lado direito"},"pl":{"name":"Jednostronna jednopółkulowa polimikrogyria"},"cs":{"name":"Unilaterální hemisférická polymikrogyrie"},"uk":{"name":"Однобічна півкульова полімікрогірія"},"zh":{"name":"单侧半球多小脑回畸形"},"tr":{"name":"Unilateral hemisferik 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":"1318599015"},{"source":"MONDO","code":"0015099","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681804","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19777","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268943,"name":"Unilateral polymicrogyria","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-01","source":"11376999[PMID]_16401865[PMID]","terms":[{"hpo":"HP:0006872","label":"Cerebral hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002539","label":"Cortical dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006891","label":"Thick cerebral cortex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011185","label":"EEG with focal epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012704","label":"Widened subarachnoid space","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020220","label":"Focal atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null}]}}