{"orpha":435638,"name":"Proximal 3p25.3 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Intellectual disability-epilepsy-stereotypic hand movement syndrome","Proximal del(3)p(25.3) syndrome","Proximal monosomy 3p25.3 syndrome"],"definition":"3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-435638/","orphanet_url":"https://www.orpha.net/en/disease/detail/435638","names":{"fr":{"name":"Syndrome de microdélétion proximale 3p25.3","synonyms":["Syndrome de del(3)p(25.3) proximale","Syndrome de monosomie 3p25.3 proximale","Syndrome de déficience intellectuelle-épilepsie-mouvements stéréotypés des mains"],"definition":"Anomalie chromosomique rare caractérisée par une déficience intellectuelle, une épilepsie ou des anomalies repérables par l'EEG, une mauvaise élocution, une ataxie et des mouvements stéréotypés des mains."},"de":{"name":"Mikrodeletionssyndrom 3p25.3, proximales","synonyms":["Del(3)p(25.3)","Intelligenzminderung-Epilepsie-stereotype Handbewegungen-Syndrom"]},"es":{"name":"Síndrome de microdeleción 3p25.3 proximal","synonyms":["Síndrome de discapacidad intelectual-epilepsia-movimientos estereotipados de las manos","Síndrome de monosomía proximal 3p25.3","Síndrome del(3)p(25.3) proximal"],"definition":"El síndrome de microdeleción 3p25.3, es una anomalía cromosómica poco frecuente, caracterizada por discapacidad intelectual, epilepsia o anomalías en el EEG, lenguaje pobre, ataxia y movimientos estereotipados de manos."},"it":{"name":"Sindrome da microdelezione prossimale 3p25.3","synonyms":["Sindrome da del(3)p(25.3) prossimale","Sindrome da monosomia prossimale 3p25.3","Sindrome disabilità cognitiva-epilessia-movimenti stereotipati delle mani","Sindrome disabilità cognitiva-epilessia-movimenti stereotipati delle mani","Del(3)p(25.3) prossimale","Monosomia prossimale 3p25.3"],"definition":"La sindrome da microdelezione 3p25.3 è un'anomalia cromosomica rara, caratterizzata da disabilità intellettiva, epilessia con anomalie all'EEG, deficit del linguaggio, atassia e movimenti stereotipati delle mani."},"nl":{"name":"Proximale 3p25.3-microdeletiesyndroom","synonyms":["Proximale del(3)p(25.3)-syndroom","Proximale monosomie 3p25.3-syndroom","Intellectuele achterstand - epilepsie - stereotiepe handbewegingen-syndroom"],"definition":"3p25.3 microdeletiesyndroom is een zeldzame chromosomale anomalie die gekarakteriseerd wordt door intellectuele achterstand, epilepsie of EEG-anomalieën, spraakachterstand, ataxie, en stereotiepe handbewegingen."},"pt":{"name":"Síndrome de microdeleção 3p25.3","synonyms":["Del(3)p(25.3)","Monossomia 3p25.3","Síndrome de perturbação do desenvolvimento intelectual-epilepsia-movimentos estereotipados das mãos"]},"pl":{"name":"Zespół mikrodelecji 3p25.3","synonyms":["Del(3)p(25.3)","Monosomia 3p25.3","Zespół niepełnosprawności intelektualnej, padaczki i stereotypowych ruchów ręki"],"definition":"*Zespół mikrodelecji 3p25.3 to rzadka aberracja chromosomowa, która charakteryzuje się niepełnosprawnością intelektualną, padaczką lub nieprawidłowościami w EEG, słabo rozwiniętą mową, ataksją i stereotypowymi ruchami rąk."},"cs":{"name":"Mikrodeleční syndrom 3p25.3","synonyms":["Del(3)p(25.3)","Syndrom zahrnující mentální retardaci, epilepsii a stereotypní pohyby rukou","Monozomie 3p25.3"]},"uk":{"name":"Синдром мікроделеції 3p25.3","synonyms":["Del(3)p(25.3)","Інтелектуальна недостатність-епілепсія-стереотипний синдром рухів рук","Моносомія 3p25.3"],"definition":"3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements."},"zh":{"name":"3p25.3微小缺失综合征","synonyms":["智力障碍-癫痫-手刻板运动综合征"],"definition":"3p25.3微缺失综合征是一种罕见的染色体异常疾病，其特征是智力障碍，癫痫或脑电图异常，语言不佳，共济失调和刻板手部动作。"},"tr":{"name":"3p25.3 mikrodelesyon sendromu","synonyms":["Del(3)p(25.3)","Monozomi 3p25.3","Zihinsel yetersizlik-epilepsi-stereotipik el hareketi sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.31","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2052106316"},{"source":"MONDO","code":"0018564","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5437630","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":261875,"name":"Partial deletion of the short arm of chromosome 3 syndrome","classifications":[147,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC6A1","name":"solute carrier family 6 member 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"25256099[PMID]","hgnc":"11042","ensembl":"ENSG00000157103","omim":"137165","loci":["3p25.3"]},{"symbol":"SLC6A11","name":"solute carrier family 6 member 11","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"25256099[PMID]","hgnc":"11044","ensembl":"ENSG00000132164","omim":"607952","loci":["3p25.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"25256099[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25256099[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-15","source":"25256099[PMID]","terms":[{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001233","label":"2-3 finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010663","label":"Abnormality of thalamus morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003086","label":"Acromesomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012762","label":"Cerebral white matter atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006585","label":"Congenital pseudoarthrosis of the clavicle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100259","label":"Postaxial polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}