{"orpha":268940,"name":"Bilateral polymicrogyria","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268940/","orphanet_url":"https://www.orpha.net/en/disease/detail/268940","names":{"fr":{"name":"Polymicrogyrie bilatérale","definition":"Malformation cérébrale rare due à une anomalie de la migration neuronale, définie par un cortex cérébral présentant de nombreuses circonvolutions excessivement petites. Elle se manifeste par un retard de développement, une déficience intellectuelle, des crises épileptiques et divers troubles neurologiques. Elle peut être isolée ou constituer une manifestation clinique dans de nombreux syndromes génétiques. Elle peut également être associée à une infection périnatale à cytomégalovirus."},"de":{"name":"Polymikrogyrie, bilaterale","definition":"Die bilaterale Polymikrogyrie ist eine seltene zerebrale Fehlbildung aufgrund einer abnormalen neuronalen Migration, definiert als eine Großhirnrinde mit vielen übermäßig kleinen Windungen. Sie geht mit Entwicklungsverzögerung, Intelligenzminderung, Krampfanfällen und verschiedenen neurologischen Beeinträchtigungen einher und kann isoliert auftreten oder ein klinisches Merkmal vieler genetischer Syndrome darstellen. Die Fehlbildung kann in Assoziation mit einer perinatalen Cytomegalovirus-Infektion auftreten."},"es":{"name":"Polimicrogiria bilateral","definition":"Es una malformación cerebral poco frecuente debida a una migración neuronal anómala. Se define en base a la presencia de un córtex cerebral con numerosas circunvoluciones excesivamente pequeñas. Se manifiesta con retraso del desarrollo, discapacidad intelectual, convulsiones y diversos trastornos neurológicos, y puede hacerlo de forma aislada o como un hallazgo clínico en muchos síndromes genéticos. También puede estar asociada a infección perinatal por citomegalovirus."},"it":{"name":"Polimicrogiria bilaterale","definition":"La polimicrogiria bilaterale è una malformazione cerebrale rara, causata da anomalie della migrazione neuronale, che consiste nella presenza di numerose circonvoluzioni di dimensioni molto ridotte a livello della corteccia cerebrale. I pazienti presentano ritardo dello sviluppo, disabilità intellettiva, crisi epilettiche e deficit neurologici variabili. La malformazione può essere isolata oppure rientrare nel quadro di numerose malattie genetiche. Può anche essere secondaria all'infezione perinatale da citomegalovirus."},"nl":{"name":"Bilaterale polymicrogyrie","definition":"Bilaterale polymicrogyrie is een zeldzame cerebrale malformatie als gevolg van abnormale neuronale migratie, en wordt gedefinieerd als een cerebrale cortex met vele, uitermate kleine hersenwindingen. Het presenteert zich met ontwikkelingsachterstand, intellectuele achterstand, insulten en verscheidene neurologische beperkingen, en kan geïsoleerd voorkomen of als klinisch kenmerk van vele genetische syndromen. Het kan ook geassocieerd zijn met perinatale infectie met cytomegalovirus."},"pt":{"name":"Polimicrogiria bilateral"},"pl":{"name":"Obustronna małozakrętowość","definition":"*Obustronna małozakrętowość (polimikrogyria) jest rzadką wadą mózgu, która jest spowodowana nieprawidłową migracją neuronów i w której kora mózgowa charakteryzuje się obecnością licznych, wyraźnie zmniejszonych zakrętów. Objawia się opóźnieniem rozwoju, niepełnosprawnością intelektualną, napadami drgawkowymi i innymi zaburzeniami neurologicznymi; może być izolowana lub stanowić cechę kliniczną wielu zespołów genetycznych. Może być także związana z okołoporodowym zakażeniem wirusem cytomegalii."},"cs":{"name":"Bilaterální polymikrogyrie","synonyms":["Nonlissencefalická kortikální dysplázie bilaterální"]},"uk":{"name":"Двостороння полімікрогірія","definition":"Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection."},"zh":{"name":"双侧多小脑回","definition":"双侧多发性脑回是一种罕见的脑畸形，是由异常的神经元迁移造成的，被定义为大脑皮层具有许多过小的回旋。它表现为发育迟缓、智力障碍、癫痫发作和各种神经损伤，可能是孤立的或包含许多遗传综合征的临床特征。也可能与围产期巨细胞病毒感染有关。"},"tr":{"name":"Bilateral polimikrogri"}},"xrefs":[{"source":"OMIM","code":"300388","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606854","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612691","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615752","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616531","qualifier":"BTNT","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":"422828750"},{"source":"MONDO","code":"0017091","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707565","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":208444,"name":"Bilateral frontal polymicrogyria","type":"Clinical subtype"},{"orpha":101070,"name":"Bilateral frontoparietal polymicrogyria","type":"Clinical subtype"},{"orpha":208447,"name":"Bilateral generalized polymicrogyria","type":"Clinical subtype"},{"orpha":208441,"name":"Bilateral parasagittal parieto-occipital polymicrogyria","type":"Clinical subtype"},{"orpha":98889,"name":"Bilateral perisylvian polymicrogyria","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"SRPX2","name":"sushi repeat containing protein X-linked 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"16497722[PMID]","hgnc":"30668","ensembl":"ENSG00000102359","omim":"300642","loci":["Xq22.1"],"via":{"orpha":98889,"name":"Bilateral perisylvian polymicrogyria"}},{"symbol":"FIG4","name":"FIG4 phosphoinositide 5-phosphatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24598713[PMID]","hgnc":"16873","ensembl":"ENSG00000112367","omim":"609390","loci":["6q21"],"via":{"orpha":208441,"name":"Bilateral parasagittal parieto-occipital polymicrogyria"}},{"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":"24531968[PMID]","hgnc":"4512","ensembl":"ENSG00000205336","omim":"604110","loci":["16q21"],"via":{"orpha":98889,"name":"Bilateral perisylvian polymicrogyria"}},{"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"],"via":{"orpha":101070,"name":"Bilateral frontoparietal polymicrogyria"}},{"symbol":"GRIN1","name":"glutamate ionotropic receptor NMDA type subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29365063[PMID]","hgnc":"4584","ensembl":"ENSG00000176884","omim":"138249","loci":["9q34.3"],"via":{"orpha":208447,"name":"Bilateral generalized polymicrogyria"}},{"symbol":"PI4KA","name":"phosphatidylinositol 4-kinase alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25855803[PMID]","hgnc":"8983","ensembl":"ENSG00000241973","omim":"600286","loci":["22q11.21"],"via":{"orpha":98889,"name":"Bilateral perisylvian polymicrogyria"}}],"inheritance":["Autosomal recessive","X-linked dominant"],"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":"2019-03-26","source":"23750890[PMID]_18991192[PMID]_15863665[PMID]","terms":[{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007362","label":"Aplasia/Hypoplasia of the brainstem","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012429","label":"Aplasia/Hypoplasia of the cerebral white matter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009878","label":"Cerebellar ataxia associated with quadrupedal gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010522","label":"Dyslexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002200","label":"Pseudobulbar signs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011099","label":"Spastic hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006818","label":"4-layered lissencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:3000047","label":"Abnormal glossopharyngeal nerve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410011","label":"Abnormality of masticatory muscle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011787","label":"Central hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001349","label":"Facial diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012650","label":"Perisylvian polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007024","label":"Pseudobulbar paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000183","label":"Tongue muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}