{"orpha":300573,"name":"Polymicrogyria due to TUBB2B mutation","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300573/","orphanet_url":"https://www.orpha.net/en/disease/detail/300573","names":{"fr":{"name":"Polymicrogyrie due à une mutation TUBB2B","definition":"Malformation corticale cérébrale complexe, rare d'origine génétique, caractérisée par une dysgyrie généralisée ou focale (également appelée dysplasie corticale de type polymicrogryie) ou par une microlissencéphalie avec dysmorphie des ganglions de la base et une dysgénésie du corps calleux. Les manifestations cliniques sont variables et comprennent la microcéphalie, des crises convulsives, l'hypotonie, un retard de développement, un retard psychomoteur sévère, l'ataxie, la diplégie spastique ou la tétraplégie, et les anomalies oculaires (strabisme, ptosis ou atrophie optique)."},"de":{"name":"Polymikrogyrie durch TUBB2B-Genmutation","definition":"Eine komplexe zerebrale kortikale Fehlbildung, die durch generalisierte oder fokale Dysgyrien (auch als polymikrogyrieähnliche kortikale Dysplasie bezeichnet) oder alternativ durch eine Mikrolissenzephalie mit dysmorphen Basalganglien und Dysgenesie des Corpus callosum gekennzeichnet ist. Die klinischen Manifestationen sind unterschiedlich und umfassen Mikrozephalie, Krampfanfälle, Hypotonie, Entwicklungsverzögerung, schwere psychomotorische Verzögerung, Ataxie, spastische Diplegie oder Tetraplegie und Augenanomalien (Strabismus, Ptosis oder Optikusatrophie)."},"es":{"name":"Polimicrogiria por una mutación en el gen TUBB2B","definition":"Es una malformación cortical cerebral compleja, poco frecuente y de origen genético, caracterizada por disgiria generalizada o focal (también denominada displasia cortical tipo polimicrogiria) o, alternativamente, por microlisencefalia con ganglios basales dismórficos y disgenesia del cuerpo calloso. Las manifestaciones clínicas son variables e incluyen microcefalia, crisis, hipotonía, retraso del desarrollo, retraso psicomotor grave, ataxia, diplejía o tetraplejía espástica y anomalías oculares (estrabismo, ptosis o atrofia óptica)."},"it":{"name":"Polimicrogiria da mutazione TUBB2B","definition":"Si tratta di una malformazione genetica rara e complessa della corteccia cerebrale, caratterizzata da disgiria generalizzata o focale (denominata anche displasia corticale simil-polimicrogria) o, in alternativa, da microlissencefalia con dismorfismi dei gangli basali e disgenesia del corpo calloso. I segni clinici sono variabili e comprendono la microcefalia, le crisi epilettiche, l'ipotonia, il ritardo dello sviluppo, il ritardo psicomotorio grave, l'atassia, la diplegia spastica o la tetraplegia e le anomalie oculari (strabismo, ptosi e atrofia ottica)."},"nl":{"name":"Polymicrogyrie door TUBB2B-mutatie","definition":"Een zeldzame, genetische complexe malformatie van hersenschors, gekenmerkt door gegeneraliseerde of focale dysgyrie (ook gekend als polymicrogyrie-achtige corticale dysplasie), of alternatief door microlissencefalie met dysmorfe basale ganglia en dysgenesie van corpus callosum. Klinische manifestaties zijn variabel en omvatten onder meer microcefalie, insulten, hypotonie, ontwikkelingsachterstand, ernstige psychomotorische achterstand, ataxie, spastische diplegie of tetraplegie, en ooganomalieën (strabisme, ptosis of opticusatrofie)."},"pt":{"name":"Polimicrogiria devido a mutação no gene TUBB2B"},"pl":{"name":"Polimikrogyria z powodu mutacji TUBB3"},"cs":{"name":"Polymikrogyrie způsobená mutací v TUBB2B genu"},"uk":{"name":"Полімікрогірія, зумовлена мутацією TUBB2B","definition":"A rare, genetic, complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy)."},"zh":{"name":"TUBB2B变异所致多小脑回畸形"},"tr":{"name":"TUBB2B mutasyonuna bağlı polimikrogri"}},"xrefs":[{"source":"OMIM","code":"610031","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012399","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"12399","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681081","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"TUBB2B","name":"tubulin beta 2B class IIb","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19465910[PMID]","hgnc":"30829","ensembl":"ENSG00000137285","omim":"612850","loci":["6p25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":36.0,"area":"Worldwide","status":"Validated","source":"19465910[PMID]_17036343[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-07","source":"26130693[PMID]_22333901[PMID]_19465910[PMID]_16401865[PMID]_10891642[PMID]_27010057[PMID]","terms":[{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002539","label":"Cortical dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002339","label":"Abnormal caudate nucleus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002389","label":"Cavum septum pellucidum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025102","label":"Dysgenesis of the basal ganglia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002282","label":"Gray matter heterotopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012377","label":"Hemianopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007301","label":"Oromotor apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012650","label":"Perisylvian polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010636","label":"Schizencephaly","frequency":"Very rare (<4-1%)","criteria":null}]}}