{"orpha":208441,"name":"Bilateral parasagittal parieto-occipital polymicrogyria","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-208441/","orphanet_url":"https://www.orpha.net/en/disease/detail/208441","names":{"fr":{"name":"Polymicrogyrie pariéto-occipitale parasagittale bilatérale"},"de":{"name":"Polymikrogyrie, bilaterale parasagittale parieto-okzipitale"},"es":{"name":"Polimicrogiria parietooccipital parasagital bilateral"},"it":{"name":"Polimicrogiria parieto-occipitale parasagittale bilaterale"},"nl":{"name":"Bilaterale parasagittale parieto-occipitale polymicrogyrie"},"pt":{"name":"Polimicrogiria parieto-occipital parassagital bilateral"},"pl":{"name":"Obustronna okołostrzałkowa ciemieniowo-potyliczna polimikrogyria"},"cs":{"name":"Bilaterální parasagitální parietookcipitální polymikrogyrie"},"uk":{"name":"Двостороння парасагітальна тімяно-потилична полімікрогірія"},"zh":{"name":"双侧矢状旁顶枕叶的多小脑回"},"tr":{"name":"Bilateral parasagittal parieto-oksipital polimikroji"}},"xrefs":[{"source":"OMIM","code":"612691","qualifier":"E","icd_relation":null,"validated":true},{"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":"293410499"},{"source":"MONDO","code":"0012986","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5437680","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10785","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268940,"name":"Bilateral polymicrogyria","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"FIG4","name":"FIG4 phosphoinositide 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(29-5%)","criteria":null},{"hpo":"HP:0001345","label":"Psychotic mentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031589","label":"Suicidal ideation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002367","label":"Visual hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}