{"orpha":397933,"name":"Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["IQSEC2-related syndromic intellectual disability"],"definition":"A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self injury and unexplained crying episodes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397933/","orphanet_url":"https://www.orpha.net/en/disease/detail/397933","names":{"fr":{"name":"Syndrome de déficience intellectuelle sévère-microcéphalie postnatale progressive-stéréotypies manuelles sur la ligne médiane","synonyms":["Déficience intellectuelle syndromique associée à IQSEC2"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par une déficience intellectuelle sévère, une microcéphalie post-natale progressive et non héréditaire, une hypotonie, une hyperkinésie, une absence de langage, un strabisme et des mouvements stéréotypés de la main sur la ligne médiane (par exemple, se laver les mains ou les frotter). La maladie se caractérise également par un retard de développement, des crises convulsives et des troubles du comportement, tels que l'automutilation et des crises de larmes inexpliquées."},"de":{"name":"Schwere Intelligenzminderung-progressive postnatale Mikrozephalie-stereotype Mittellinien-Handbewegungen-Syndrom","synonyms":["Intelligenzminderung, syndromale, IQSEC2-assoziierte"]},"es":{"name":"Síndrome de discapacidad intelectual grave-microcefalia postnatal progresiva-movimientos estereotipados de las manos en la línea media","synonyms":["Discapacidad intelectual sindrómica asociada a IQSEC2"],"definition":"El síndrome de discapacidad intelectual grave - microcefalia postnatal progresiva - movimientos estereotipados de las manos en la línea media, es un trastorno de discapacidad intelectual sindrómico, genético y poco frecuente. Está caracterizado por discapacidad intelectual grave no hereditaria progresiva, microcefalia postnatal, hipotonía, hipercinesia, habla ausente, estrabismo y movimientos estereotipados de las manos en la línea media (p. ej., lavado / frotamiento de las manos). Otras características adicionales incluyen retrasos del desarrollo, convulsiones y trastornos conductuales, tales como autolesiones y episodios de llanto inexplicables."},"it":{"name":"Sindrome da disabilità intellettiva grave, microcefalia postnatale progressiva, movimenti stereotipati delle mani lungo la linea mediana","definition":"La sindrome che associa la disabilità intellettiva grave, la microcefalia postnatale progressiva e i movimenti stereotipati delle mani lungo la linea mediana è una malattia genetica rara da disabilità intellettiva, caratterizzata da disabilità intellettiva grave, microcefalia postnatale progressiva non ereditaria, ipotonia, ipercinesia, assenza del linguaggio, strabismo e movimenti stereotipati delle mani lungo la linea mediana (sfregamento, o simil-lavaggio). Altri segni clinici sono il ritardo dello sviluppo, le crisi epilettiche e i disturbi del comportamento (autolesionismo ed episodi di pianto apparentemente inspiegabili)."},"nl":{"name":"Ernstige intellectuele achterstand - progressieve postnatale microcefalie - stereotiepe handbewegingen op de middellijn-syndroom","synonyms":["IQSEC2-gerelateerde syndromale intellectuele achterstand"],"definition":"Ernstige intellectuele achterstand - progressieve postnatale microcefalie - stereotiepe handbewegingen op de middellijn-syndroom is een zeldzame, genetische, syndromale intellectuele invaliditeit die gekarakteriseerd wordt door ernstige intellectuele achterstand, niet-overgeërfde, progressieve, postnatale microcefalie, hypotonie, hyperkinesie, afwezigheid van spraak, strabisme, en stereotiepe handbewegingen op de middellijn (e.g. handen wassen/wrijven). Bijkomende kenmerken zijn onder meer ontwikkelingsachterstand, insulten en gedragsstoornissen, zoals zelfverwonding en episodes met onverklaarbare weenbuien."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual grave-microcefalia pós-natal progressiva-movimentos estereotipados das mãos na linha média"},"pl":{"name":"Zespół ciężkiej niepełnosprawności intelektualnej, postępującego małogłowia postnatalnego i stereotypowych ruchów dłoni w linii pośrodkowej ciała","synonyms":["IQSEC2-related syndromic intellectual disability"],"definition":"*Zespół ciężkiej niepełnosprawności intelektualnej, postępującego małogłowia postnatalnego i stereotypowych ruchów dłoni w linii pośrodkowej ciała jest rzadkim, genetycznie uwarunkowanym zespołem z niepełnosprawnością intelektualną, który charakteryzuje się ciężką niepełnosprawnością intelektualną, postępującym małogłowiem, pojawiającym się w okresie postnatalnym, hipotonią, hiperkinezją, brakiem mowy, zezem oraz stereotypowymi ruchami rąk w linii pośrodkowej (np. mycie/pocieranie rąk). Dodatkowe objawy obejmują opóźnienie rozwoju, drgawki i zaburzenia zachowania, takie jak samookaleczanie i niewyjaśnione napady płaczu."},"cs":{"name":"Syndrom zahrnující těžkou mentální retardaci, progresivní postnatální mikrocefalii a stereotypní pohyby rukou ve střední čáře","synonyms":["IQSEC2-related syndromic intellectual disability"]},"uk":{"name":"Синдром важкої розумової відсталості-прогресуючої постнатальної мікроцефалії-стереотипних рухів рук середньої лінії","synonyms":["Синдромальна інтелектуальна недостатність, повязана з IQSEC2"],"definition":"A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self injury and unexplained crying episodes."},"zh":{"name":"重度智力障碍-进行性产后小头畸形-中线刻板手部动作综合征","synonyms":["IQSEC2相关综合征性智力障碍"],"definition":"严重智力障碍-进行性出生后小头畸形-中线刻板的手部动作综合征是一种罕见的遗传性综合征候性智力残疾障碍，其特征是严重智力障碍、非遗传性进行性出生后产后小头畸形、肌张力减退、运动亢进、语言缺乏、斜视和中线刻板手部运动(如洗手/揉)。本病的其他特征包括发育迟缓、癫痫发作和行为障碍，如自我伤害和原因不明的哭闹发作。"},"tr":{"name":"Ağır zihinsel yetersizlik-ilerleyici doğum sonrası mikrosefali-orta hat stereotipik el hareketleri sendromu","synonyms":["IQSEC2-ilişkili sendromik zihinsel yetersizlik"]}},"xrefs":[{"source":"OMIM","code":"301164","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018347","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"10656","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18347","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931498","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13221","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"IQSEC2","name":"IQ motif and Sec7 domain ArfGEF 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23674175[PMID]","hgnc":"29059","ensembl":"ENSG00000124313","omim":"300522","loci":["Xp11.22"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"23674175[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23674175[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-10","source":"28815955[PMID]_27010919[PMID]","terms":[{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012171","label":"Stereotypical hand wringing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002487","label":"Hyperkinetic movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030215","label":"Inappropriate crying","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}