{"orpha":1083,"name":"Microlissencephaly","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1083/","orphanet_url":"https://www.orpha.net/en/disease/detail/1083","names":{"fr":{"name":"Microlissencéphalie","definition":"Le terme microlissencéphalie décrit un groupe hétérogène de malformations corticales rares caractérisées par une lissencéphalie combinée à une microcéphalie congénitale sévère, et présentant une spasticité, un retard de développement sévère et des convulsions, avec une espérance de vie allant de quelques jours à quelques années."},"de":{"name":"Mikrolissenzephalie"},"es":{"name":"Microlisencefalia","definition":"La microlisencefalia describe un grupo heterogéneo de malformaciones corticales poco frecuentes caracterizadas por lisencefalia en combinación con microcefalia congénita grave, presentándose con espasticidad, retraso grave del desarrollo, convulsiones y con una esperanza de vida que varía desde días a años."},"it":{"name":"Microlissencefalia","definition":"La microlissencefalia comprende un gruppo eterogeneo di difetti rari della corteccia cerebrale, caratterizzati da lissencefalia associata a grave microcefalia congenita; esordisce con spasticità, grave ritardo dello sviluppo e crisi epilettiche. La sopravvivenza è pochi giorni o di anni."},"nl":{"name":"Microlissencefalie","definition":"Microlissencefalie beschrijft een heterogene groep van zeldzame corticale malformaties die gekarakteriseerd worden door lissencefalie in combinatie met ernstige congenitale microcefalie, zich presenteren met spasticiteit, ernstige ontwikkelingsachterstand, en insulten, en een overleving gaande van dagen tot jaren vertonen."},"pt":{"name":"Microlisencefalia"},"pl":{"name":"Mikrolizencefalia"},"cs":{"name":"Mikrolisencefalie"},"uk":{"name":"Мікролісенцефалія","definition":"Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years."},"zh":{"name":"小头畸形"},"tr":{"name":"Mikrolizensefali"}},"xrefs":[{"source":"OMIM","code":"614019","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616212","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"169315445"},{"source":"MONDO","code":"0015204","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1956147","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":101052,"name":"OBSOLETE: Microlissencephaly type B","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":48471,"name":"Lissencephaly","classifications":[147,156,181]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[{"orpha":89844,"name":"Lissencephaly syndrome, Norman-Roberts type","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"KATNB1","name":"katanin regulatory subunit B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25521378[PMID]_25521379[PMID]","hgnc":"6217","ensembl":"ENSG00000140854","omim":"602703","loci":["16q21"],"via":{"orpha":89844,"name":"Lissencephaly syndrome, Norman-Roberts type"}},{"symbol":"NDE1","name":"nudE neurodevelopment protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21529751[PMID]_21529752[PMID]","hgnc":"17619","ensembl":"ENSG00000072864","omim":"609449","loci":["16p13.11"],"via":{"orpha":89844,"name":"Lissencephaly syndrome, Norman-Roberts type"}},{"symbol":"RELN","name":"reelin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10973257[PMID]","hgnc":"9957","ensembl":"ENSG00000189056","omim":"600514","loci":["7q22.1"],"via":{"orpha":89844,"name":"Lissencephaly syndrome, Norman-Roberts type"}}],"inheritance":["Autosomal recessive"],"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":"2021-08-25","source":"33026328[PMID]_31586943[PMID]_25521378[PMID]_30637988[PMID]","terms":[{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0025190","label":"Bilateral tonic-clonic seizure with generalized onset","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007266","label":"Cerebral dysmyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007190","label":"Neuronal loss in the cerebral cortex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006891","label":"Thick cerebral cortex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007165","label":"Periventricular heterotopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009879","label":"Simplified gyral pattern","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032391","label":"Subcortical heterotopia","frequency":"Occasional (29-5%)","criteria":null}]}}