{"orpha":208444,"name":"Bilateral frontal polymicrogyria","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-208444/","orphanet_url":"https://www.orpha.net/en/disease/detail/208444","names":{"fr":{"name":"Polymicrogyrie frontale bilatérale"},"de":{"name":"Polymikrogyrie, bilaterale frontale"},"es":{"name":"Polimicrogiria frontal bilateral"},"it":{"name":"Polimicrogiria frontale bilaterale"},"nl":{"name":"Bilaterale frontale polymicrogyrie"},"pt":{"name":"Polimicrogiria bilateral frontal"},"pl":{"name":"Obustronna czołowa polimikrogyria/małozakrętowość"},"cs":{"name":"Bilaterální přední polymikrogyrie"},"uk":{"name":"Двостороння фронтальна полімікрогірія"},"zh":{"name":"双侧额叶多小脑回"},"tr":{"name":"Bilateral frontal polimikrojiri"}},"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":"688947844"},{"source":"MONDO","code":"0016162","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5437679","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10783","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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-30","source":"10588102[PMID]_17545827[PMID]_10690985[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002200","label":"Pseudobulbar signs","frequency":"Excluded (0%)","criteria":null}]}}