{"orpha":268947,"name":"Unilateral focal polymicrogyria","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268947/","orphanet_url":"https://www.orpha.net/en/disease/detail/268947","names":{"fr":{"name":"Polymicrogyrie unilatérale focale","definition":"Sous-type le plus bénin de polymicrogyrie (PMG), une malformation corticale cérébrale caractérisée par un plissement cortical excessif et une stratification corticale anormale n'affectant qu'une petite région du cerveau, pouvant être associée ou non à une atteinte neurologique."},"de":{"name":"Polymikrogyrie, fokale unilaterale"},"es":{"name":"Polimicrogiria unilateral focal","definition":"Es el subtipo más leve de polimicrogiria (PMG), una malformación cerebral cortical caracterizada por plegamiento cortical excesivo y estratificación cortical anómala, que afecta sólo a una pequeña región del cerebro y puede asociar o no afectación neurológica."},"it":{"name":"Polimicrogiria focale monolaterale","definition":"La polimicrogiria focale monolaterale (BFPP) è il sottotipo più lieve di polimicrogiria (PMG; si veda questo termine), una malformazione della corteccia cerebrale caratterizzata da un aumento della plicatura e anomalie della stratificazione corticale, che interessa solo una piccola area del cervello, che può anche non determinare un interessamento neurologico."},"nl":{"name":"Unilaterale focale polymicrogyrie","definition":"Unilaterale focale polymicrogyrie (BFPP) is het mildste subtype van polymicrogyrie (PMG; zie deze term), een cerebrale corticale malformatie gekenmerkt door overmatige corticale vouwing en abnormale corticale laagvorming, dat enkel een klein gebied van de hersenen treft en dat mogelijk geen neurologische betrokkenheid vertoont."},"pt":{"name":"Polimicrogiria focal unilateral"},"pl":{"name":"Drobnozakrętowość/Polimikrogyria jednostronna ogniskowa"},"cs":{"name":"Unilaterální fokální polymikrogyrie"},"uk":{"name":"Одностороння фокальна полімікрогірія","definition":"Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement."},"zh":{"name":"单侧局灶性多小脑回","definition":"单侧局灶性多微回(BFPP)是多微回(PMG；见该词条))最温和的亚型，一种大脑皮层畸形，其特征为过度的皮层折叠和异常的皮层分层，只影响大脑的一个小区域，可能不表现出神经系统的受累。"},"tr":{"name":"Unilateral fokal 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":"1006662041"},{"source":"MONDO","code":"0017093","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680773","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":[{"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":"2020-10-01","source":"15626537[PMID]_24184770[PMID]_17307715[PMID]","terms":[{"hpo":"HP:0100308","label":"Cerebral cortical hemiatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002539","label":"Cortical dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","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:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011099","label":"Spastic hemiparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007377","label":"Abnormality of somatosensory evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007334","label":"Bilateral tonic-clonic seizure with focal onset","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012015","label":"EEG with frontal focal spikes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012018","label":"EEG with temporal focal spikes","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:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001335","label":"Bimanual synkinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012014","label":"EEG with central focal spikes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012016","label":"EEG with occipital focal spikes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012017","label":"EEG with parietal focal spikes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000758","label":"Impaired use of nonverbal behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007229","label":"Intracerebral periventricular calcifications","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011171","label":"Simple febrile seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null}]}}