{"orpha":352682,"name":"Cobblestone lissencephaly without muscular or ocular involvement","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cobblestone lissencephaly without muscular or eye involvement","Lissencephaly type 2 without muscular or eye involvement","Lissencephaly type 2 without muscular or ocular involvement"],"definition":"A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352682/","orphanet_url":"https://www.orpha.net/en/disease/detail/352682","names":{"fr":{"name":"Lissencéphalie pavimenteuse sans atteinte musculaire ou oculaire","synonyms":["Lissencéphalie type 2 sans atteinte musculaire ou oculaire"],"definition":"Lissencéphalie pavimenteuse rare d'origine génétique, caractérisée par la présence de multiples malformations cérébrales, y compris des malformations des gyrus et des sillons du cortex, d'anomalies du signal de la substance blanche, une dysplasie cérébelleuse et une hypoplasie du tronc cérébral, survenant de manière isolée ou en association avec des anomalies musculaires et oculaires minimes. Ces anomalies se manifestent généralement par un retard de développement sévère, une augmentation du périmètre crânien, une hydrocéphalie et des crises d'épilepsie."},"de":{"name":"Cobblestone-Lissenzephalie ohne muskuläre oder okuläre Beteiligung","synonyms":["Cobblestone-Lissenzephalie ohne Beteiligung der Muskeln oder Augen","Lissenzephalie Typ 2 ohne Beteiligung der Muskeln oder Augen"],"definition":"Eine seltene, genetisch bedingte, kopfsteinpflasterartige Lissenzephalie, die durch eine Konstellation von Fehlbildungen des Gehirns gekennzeichnet ist, einschließlich kortikaler Gyral- und Sulkusanomalien, Signalanomalien der weißen Substanz, Kleinhirndysplasie und Hirnstammhypoplasie, die allein oder in Verbindung mit minimalen muskulären und okulären Anomalien auftreten und sich typischerweise durch eine schwere Entwicklungsverzögerung, einen vergrößerten Kopfumfang, Hydrozephalus und Krampfanfälle manifestieren."},"es":{"name":"Lisencefalia en empedrado sin afectación muscular u ocular","synonyms":["Lisencefalia en empedrado sin afectación muscular o del ojo","Lisencefalia tipo 2 sin afectación muscular o del ojo","Lisencefalia tipo 2 sin afectación muscular u ocular"],"definition":"Es un tipo de lisencefalia en empedrado, genética y poco frecuente. Se caracteriza por la presencia de una constelación de malformaciones cerebrales que incluyen anomalías de los giros y surcos corticales, anomalías en la señal de la sustancia blanca, displasia cerebelosa e hipoplasia del tronco encefálico, que se presenta aislada o junto con anomalías musculares y oculares mínimas. Típicamente se manifiesta con grave retraso del desarrollo, aumento del perímetro cefálico, hidrocefalia y crisis epilépticas."},"it":{"name":"Lissencefalia con aspetto acciottolato senza interessamento muscolare o oculare","synonyms":["Lissencefalia con aspetto ciottolato senza coinvolgimento muscolare o dell'occhio","Lissencefalia tipo 2 senza coinvolgimento muscolare o dell'occhio","Lissencefalia tipo 2 senza coinvolgimento oculare o muscolare"],"definition":"Si tratta di una lissencefalia genetica rara con aspetto acciottolato, caratterizzata da diverse malformazioni cerebrali, che comprendono le anomalie delle circonvoluzioni corticali e del solco, le anomalie del segnale della sostanza bianca, la displasia cerebellare e l'ipoplasia del tronco encefalico. Può essere isolata oppure associarsi a lievi anomalie muscolari e oculari. Di solito la malattia si manifesta con grave ritardo dello sviluppo, aumento della circonferenza cranica, idrocefalo e crisi epilettiche."},"nl":{"name":"Cobblestone-lissencefalie zonder musculaire of oculaire betrokkenheid","synonyms":["Cobblestone-lissencefalie zonder betrokkenheid van spier of oog","Lissencefalie type 2 zonder betrokkenheid van spier of oog","Lissencefalie type 2 zonder musculaire of oculaire betrokkenheid"],"definition":"Een zeldzame, genetische, cobblestone-lissencefalie die gekarakteriseerd wordt door de aanwezigheid van een constellatie van hersenmalformaties, waaronder anomalieën van gyri en sulci in de cortex, afwijkende signalering in witte stof, en cerebellaire dysplasie en hypoplasie van de hersenstam, die alleen voorkomt of samen met minimale musculaire en oculaire afwijkingen, en die zich doorgaans manifesteert met ernstige ontwikkelingsachterstand, grotere hoofdomtrek, hydrocefalie en insulten."},"pt":{"name":"Lisencefalia em pedra de calçada sem envolvimento muscular ou ocular"},"pl":{"name":"Lizencefalia typu kostki brukowej bez zaangażowanie mięśni i oczu","synonyms":["Lizencefalia typu 2 bez zaangażowania mięśni lub oczu","Lizencefalia typu 2 bez zaangażowania mięśni lub oczu","Lizencefalia typu kostki brukowej bez zaangażowanie mięśni lub oczu"]},"cs":{"name":"Cobblestone lisencefalie bez postižení svalů nebo očí","synonyms":["Lissencefalie s obrazem kočičích hlav bez postižení svalů nebo očí","Lissencefalie typ 2 bez postižení svalů nebo očí","Cobblestone dysplázie bez postižení svalů nebo očí"]},"uk":{"name":"Бруківкова лісенцефалія без мязового або очного ураження","synonyms":["Бруківкова лісенцефалія без ураження мязів та очей","Лісенцефалія 2 типу без ураження мязів та очей","Лісенцефалія 2 типу без мязового або очного ураження"],"definition":"A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures."},"zh":{"name":"无肌肉或眼受累的鹅卵石样无脑回畸形","synonyms":["无肌肉或眼受累的鹅卵石样无脑回畸形"],"definition":"本病是一种罕见的遗传性鹅卵石小脑疾病，以一系列大脑畸形为特征，包括皮质回和脑沟异常、白质信号异常、小脑发育不良和脑干发育不良，单独存在或合并轻度肌肉和眼部异常，其典型特征为严重发育迟缓、头围增加、脑积水和癫痫发作。"},"tr":{"name":"Kas veya oküler tutulum olmayan Arnavut kaldırımlı lizensefali","synonyms":["Kas veya göz tutulumu ile seyretmeyen tip 2 lisensefali","Kas veya oküler tutulum ile seyretmeyen tip 2 lisensefali","Kas veya göz tutulumu ile seyretmeyen arnavut kaldırımlı lisensefali"]}},"xrefs":[{"source":"OMIM","code":"615191","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617255","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014077","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191415","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":51577,"name":"Cobblestone lissencephaly","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"LAMB1","name":"laminin subunit beta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23472759[PMID]","hgnc":"6486","ensembl":"ENSG00000091136","omim":"150240","loci":["7q31.1"]},{"symbol":"TMTC3","name":"transmembrane O-mannosyltransferase targeting cadherins 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27773428[PMID]_28973161[PMID]_33293961[PMID]","hgnc":"26899","ensembl":"ENSG00000139324","omim":"617218","loci":["12q21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"23472759[PMID]_25925986[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23472759[PMID]_25925986[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-18","source":"23472759[PMID]","terms":[{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012447","label":"Abnormal myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032398","label":"Dysgyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002282","label":"Gray matter heterotopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002365","label":"Hypoplasia of the brainstem","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002085","label":"Occipital encephalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007260","label":"Type II lissencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Excluded (0%)","criteria":null}]}}