{"orpha":101029,"name":"Sub-cortical nodular heterotopia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-101029/","orphanet_url":"https://www.orpha.net/en/disease/detail/101029","names":{"fr":{"name":"Hétérotopie nodulaire sous-corticale"},"de":{"name":"Heterotopie, noduläre subkortikale"},"es":{"name":"Heterotopia nodular sub-cortical"},"it":{"name":"Eterotopia nodulare sottocorticale"},"nl":{"name":"Subcorticale nodulaire heterotopie"},"pt":{"name":"Heterotopia nodular, sub-cortical"},"pl":{"name":"Podkorowa heterotopia guzkowa"},"cs":{"name":"Subkortikální nodulární heterotopie"},"uk":{"name":"Підкіркова вузловата гетеротопія"},"zh":{"name":"皮质下结节性异位症"},"tr":{"name":"Subkortikal nodüler heterotopi"}},"xrefs":[{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA05.5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1683302159"},{"source":"MONDO","code":"0015093","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681805","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19775","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2149,"name":"Nodular neuronal heterotopia","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-23","source":"10696010[PMID]_25091978[PMID]_31490406[PMID]_6499568[PMID]","terms":[{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002538","label":"Abnormality of the cerebral cortex","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032391","label":"Subcortical heterotopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002699","label":"Abnormality of the foramen magnum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010843","label":"EEG with focal slow activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011193","label":"EEG with focal spikes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002134","label":"Abnormal basal ganglia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null}]}}