{"orpha":101070,"name":"Bilateral frontoparietal polymicrogyria","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101070/","orphanet_url":"https://www.orpha.net/en/disease/detail/101070","names":{"fr":{"name":"Polymicrogyrie bilatérale frontopariétale","definition":"Sous-type de polymicrogyrie (PMG), consistant en une malformation du cortex cérébral, caractérisée par un plissement cortical excessif et une stratification corticale anormale affectant la région frontopariétale du cerveau. Les patients présentent une hypotonie, un retard de développement, une déficience intellectuelle modérée à sévère, des signes d'atteinte pyramidale, des crises convulsives, une ataxie cérébelleuse non progressive, une dysconjugaison du regard et/ou un strabisme."},"de":{"name":"Polymikrogyrie, bilaterale frontoparietale"},"es":{"name":"Polimicrogiria bilateral frontoparietal","definition":"Es un subtipo de polimicrogiria (PMG), una malformación de la corteza cerebral caracterizada por un plegamiento cortical excesivo y estratificación cortical anómala que afecta a la región frontoparietal del cerebro y que se presenta con hipotonía, retraso en el desarrollo, discapacidad intelectual de moderada a grave, signos piramidales, crisis epilépticas, ataxia cerebelosa no progresiva, mirada desacoplada o disconjugada y/o estrabismo."},"it":{"name":"Polimicrogiria frontoparietale bilaterale","definition":"La polimicrogiria frontoparietale bilaterale (BFPP) è un sottotipo di polimicrogiria (PMG; si veda questo termine), che consiste in una malformazione della corteccia cerebrale, caratterizzata da un aumento della plicatura della corteccia e da anomalie della stratificazione corticale, che interessano la regione fronto-parietale del cervello. I pazienti presentano ipotonia, ritardo dello sviluppo, disabilità intellettiva moderata-grave, segni piramidali, crisi epilettiche, atassia cerebellare non progressiva, sguardo non coniugato e/o strabismo."},"nl":{"name":"Bilaterale frontopariëtale polymicrogyrie","definition":"Bilaterale frontopariëtale polymicrogyrie (BFPP) is een subtype van polymicrogyrie (PMG; zie deze term), een cerebrale corticale malformatie gekarakteriseerd door overmatige corticale vouwing en abnormale vorming van corticale lagen, die het frontopariëtale gebied van de hersenen treft en die tot uiting komen met hypotonie, ontwikkelingsachterstand, matige tot ernstige intellectuele achterstand, piramidale tekenen, epileptische insulten, niet-progressieve cerebellaire ataxie, loensende blik en/of strabisme."},"pt":{"name":"Polimicrogiria, bilateral, frontoparietal"},"pl":{"name":"Obustronna czołowo-skroniowa polimikrogyria"},"cs":{"name":"Bilaterální hemisférická polymikrogyrie"},"uk":{"name":"Двостороння лобно-тімяна полімікрогірія","definition":"Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus."},"zh":{"name":"双侧额顶叶多小脑回畸形","definition":"双侧额顶多微小回(BFPP)是多小脑回(PMG；见该词条)的一个亚型，是一种以皮质过度折叠和皮质异常分层为特征的大脑皮层畸形，涉及大脑额顶区，表现为肌张力减退、发育迟缓、中度至重度智力障碍、锥体体征、癫痫发作、非进行性小脑性共济失调、非共轭凝视和/或斜视。"},"tr":{"name":"Bilateral frontoparietal polimikrojiri"}},"xrefs":[{"source":"OMIM","code":"606854","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":"1119484699"},{"source":"MONDO","code":"0011738","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564652","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847352","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10784","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":"ADGRG1","name":"adhesion G protein-coupled receptor G1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21349848[PMID]","hgnc":"4512","ensembl":"ENSG00000205336","omim":"604110","loci":["16q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-29","source":"20331704[PMID]_12730993[PMID]","terms":[{"hpo":"HP:0007033","label":"Cerebellar dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007266","label":"Cerebral dysmyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002539","label":"Cortical dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025190","label":"Bilateral tonic-clonic seizure with generalized onset","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002365","label":"Hypoplasia of the brainstem","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040194","label":"Increased head circumference","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011147","label":"Typical absence seizure","frequency":"Occasional (29-5%)","criteria":null}]}}