{"orpha":251056,"name":"6q25.2q25.3 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(6)(q25.2q25.3)","Monosomy 6q25.2q25.3"],"definition":"6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251056/","orphanet_url":"https://www.orpha.net/en/disease/detail/251056","names":{"fr":{"name":"Syndrome de microdélétion 6q25.2q25.3","synonyms":["Del(6)(q25.2q25.3)","Monosomie 6q25.2q25.3"],"definition":"Le syndrome de microdélétion 6q25, récemment décrit, se caractérise par un retard du développement, une dysmorphie faciale et une surdité."},"de":{"name":"Mikrodeletionssyndrom 6q25.2q25.3","synonyms":["Del(6)(q25.2q25.3)","Monosomie 6q25.2q25.3"],"definition":"Das 6q25-Mikrodeletion-Syndrom ist gekennzeichnet durch verzögerte Entwicklung, faziale Dysmorphien und Hörverlust."},"es":{"name":"Síndrome de microdeleción 6q25.2q25.3","synonyms":["Del(6)(q25.2q25.3)","Monosomía 6q25.2q25.3"],"definition":"El síndrome de microdeleción 6q25 es un síndrome recientemente descrito, caracterizado por retraso del desarrollo, dismorfismo facial y pérdida auditiva."},"it":{"name":"Sindrome da microdelezione 6q25.2q25.3","synonyms":["Del(6)(q25.2q25.3)","Monosomia 6q25.2q25.3"],"definition":"La sindrome da microdelezione 6q25 è una malattia rara, descritta di recente, caratterizzata da ritardo dello sviluppo, dismorfismi facciali e sordità."},"nl":{"name":"6q25.2q25.3-microdeletiesyndroom","synonyms":["Del(6)(q25.2q25.3)","Monosomie 6q25.2q25.3"],"definition":"Een syndroom, gekenmerkt door ontwikkelingsachterstand, faciale dysmorfie, en gehoorverlies."},"pt":{"name":"Síndrome de microdeleção 6q25.2q25.3","synonyms":["Del(6)(q25)","Monossomia 6q25"],"definition":"A síndrome da microdeleção 6q25 é uma síndrome recentemente descrita, caracterizada por atraso no desenvolvimento, dismorfia facial e perda auditiva."},"pl":{"name":"Zespół mikrodelecji 6q25.2q25.3","synonyms":["Del(6)(q25)","Monosomia 6q25"]},"cs":{"name":"Syndrom mikrodelece 6q25","synonyms":["Del(6)(q25)","Monozomie 6q25"]},"uk":{"name":"Синдром мікроделеції 6q25.2q25.3","synonyms":["Del(6)(q25)","Моносомія 6q25"],"definition":"6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss."},"zh":{"name":"染色体6q25微缺失综合征","synonyms":["6q25单体"],"definition":"6q25微缺失综合征是新近报道的一种以发育迟缓、面部畸形和听力损失为特征的综合征。"},"tr":{"name":"6q25 mikrodelesyon sendromu","synonyms":["Del (6) (q25)","Monozomi 6q25"]}},"xrefs":[{"source":"OMIM","code":"612863","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.60","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1123604918"},{"source":"MONDO","code":"0013025","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304527","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3764","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262047,"name":"Partial deletion of the long arm of chromosome 6 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"ARID1B","name":"AT-rich interaction domain 1B","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Not yet assessed","source":"22405089[PMID]","hgnc":"18040","ensembl":"ENSG00000049618","omim":"614556","loci":["6q25.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19034313[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"19034313[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012639","label":"Abnormal nervous system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001838","label":"Rocker bottom foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}