{"orpha":468620,"name":"Intellectual disability-epilepsy-extrapyramidal syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-468620/","orphanet_url":"https://www.orpha.net/en/disease/detail/468620","names":{"fr":{"name":"Syndrome extrapyramidal-déficience intellectuelle-épilepsie","definition":"Maladie neurologique génétique rare caractérisée par une hypotonie, un retard de développement moteur, une dyskinésie des membres, une déficience intellectuelle avec trouble du développement du langage, des crises d'épilepsie, des troubles du spectre autistique, un comportement stéréotypé et des troubles du sommeil. Les symptômes apparaissent dans la petite enfance. Des anomalies bilatérales du putamen visibles à l'IRM cérébrale ont été rapportées chez certains patients."},"de":{"name":"Intelligenzminderung-Epilepsie-extrapyramidale Störung-Syndrom","definition":"Eine seltene neurologische Störung, die durch Hypotonie, verzögerte motorische Entwicklung, Dyskinesie der Gliedmaßen, Intelligenzminderung mit beeinträchtigter Sprachentwicklung, Krampfanfälle, autistische Züge, stereotype Bewegungen und Schlafstörungen gekennzeichnet ist. Die ersten Symptome der genetischen Störung treten im Säuglingsalter auf. Bei einigen Patienten wurden bilaterale Anomalien im Putamen im MRT des Gehirns festgestellt."},"es":{"name":"Síndrome extrapiramidal-discapacidad intelectual-epilepsia","definition":"Es un trastorno neurológico, de origen genético y poco frecuente, caracterizado por hipotonía, retraso del desarrollo motor, discinesia de las extremidades, discapacidad intelectual con trastornos del desarrollo del habla, crisis epilépticas, rasgos autistas, movimientos estereotipados y trastornos del sueño. Los síntomas debutan en la lactancia. En algunos pacientes, la resonancia magnética cerebral muestra anomalías bilaterales en el putamen."},"it":{"name":"Sindrome disabilità intellettiva-epilessia-sintomi extrapiramidali","definition":"Si tratta di una malattia neurologica rara, di origine genetica, caratterizzata da ipotonia, ritardo dello sviluppo motorio, discinesia degli arti, disabilità intellettiva associata alla compromissione dello sviluppo del linguaggio, crisi epilettiche, tratti autistici, movimenti stereotipati e disturbi del sonno. La malattia esordisce nella prima infanzia. In alcuni pazienti, la RMN del cervello mostra anomalie bilaterali del putamen."},"nl":{"name":"Intellectuele achterstand - epilepsie - extrapiramidaal-syndroom","definition":"Een zeldzame, genetische neurologische aandoening, gekarakteriseerd door hypotonie, motorische ontwikkelingsachterstand, dyskinesie van ledematen, intellectuele achterstand met verstoorde spraakontwikkeling, insulten, autistische kenmerken, stereotiepe bewegingen, en slaapstoornis. Symptomen vangen aan in de zuigelingentijd. Bij sommige patiënten werden bij MRI van hersenen bilaterale afwijkingen van putamen gerapporteerd."},"pt":{"name":"Síndrome extrapiramidal-perturbação do desenvolvimento intelectual-epilepsia"},"pl":{"name":"Niepełnosprawność intelektualna-padaczka-zespół pozapiramidowy"},"cs":{"name":"Syndrom zahrnující mentální retardaci, epilepsii a extrapyramidové symptomy"},"uk":{"name":"Інтелектуальна недостатність - епілепсія - екстрапірамідний синдром","definition":"A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients."},"zh":{"name":"智力障碍-癫痫-锥体束外综合征","definition":"是一种罕见的遗传性神经系统疾病，其特征是肌张力低下、运动发育迟缓、四肢运动障碍、智力障碍，伴有语言发育障碍、癫痫发作、自闭症特征、刻板动作和睡眠障碍。症状起病于婴儿期。有报道称，一些患者的脑部MRI检查中出现了双侧豆状核壳异常。"},"tr":{"name":"Zihinsel yetersizlik-epilepsi-ekstrapiramidal sendrom"}},"xrefs":[{"source":"OMIM","code":"617171","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014952","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568848","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13474","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DEAF1","name":"DEAF1 transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26048982[PMID]","hgnc":"14677","ensembl":"ENSG00000177030","omim":"602635","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"26048982[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26048982[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-06","source":"30923367[PMID]_26048982[PMID]","terms":[{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010832","label":"Abnormality of pain sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030051","label":"Tip-toe gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Occasional (29-5%)","criteria":null}]}}