{"orpha":254346,"name":"19p13.12 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(19)(p13.12)","Monosomy 19p13.12"],"definition":"19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254346/","orphanet_url":"https://www.orpha.net/en/disease/detail/254346","names":{"fr":{"name":"Syndrome de microdélétion 19p13.12","synonyms":["Del(19)(p13.12)","Monosomie 19p13.12"],"definition":"Le syndrome de microdélétion 19p13.12 est un syndrome récemment décrit caractérisé par un retard de développement modéré à sévère, un retard de langage, une surdité bilatérale neurosensorielle ou conductrice et une dysmorphie faciale."},"de":{"name":"Mikrodeletionssyndrom 19p13.12","synonyms":["Del(19)(p13.12)","Monosomie 19p13.12"],"definition":"Das 19p13.12-Mikrodeletion-Symdrom ist gekennzeichnet durch moderate bis schwere Entwicklungsverzögerung, verzögerte Sprachentwicklung, beidseitige Schallempfindungs- und/oder Schalleitungs-Schwerhörigkeit und faziale Dysmorphien."},"es":{"name":"Síndrome de microdeleción 19p13.12","synonyms":["Del(19)(p13.12)","Monosomía 19p13.12"],"definition":"El síndrome de microdeleción 19p13.12 es un síndrome recientemente descrito, caracterizado por un retraso del desarrollo entre moderado y grave, retraso del lenguaje, pérdida auditiva neurosensorial bilateral y/o conductiva y dismorfismo facial."},"it":{"name":"Sindrome da microdelezione 19p13.12","synonyms":["Del(19)(p13.12)","Monosomia 19p13.12"],"definition":"La sindrome da microdelezione 19p13.12 è una malattia rara, descritta di recente, caratterizzata da ritardo dello sviluppo moderato-grave, ritardo del linguaggio, sordità neurosensoriale e/o di conduzione bilaterale e dismorfismi facciali."},"nl":{"name":"19q13.12-microdeletiesyndroom","synonyms":["Del(19)(p13.12)","Monosomie 19p13.12"],"definition":"Een syndroom, gekenmerkt door matige tot ernstige ontwikkelingsachterstand, taalachterstand, bilateraal sensorineuraal en/of conductief gehoorverlies, en faciale dysmorfie."},"pt":{"name":"Síndrome de microdeleção 19q13.12","synonyms":["Monossomia 19q13.12"],"definition":"A síndrome de microdeleção 19p13.12 é uma síndrome recentemente descrita caracterizada por atraso do desenvolvimento moderado a grave, atraso na linguagem, sudez bilateral de conducao e/ou neurossensorial e dismorfismo facial."},"pl":{"name":"Zespół mikrodelecji 19p13.12","synonyms":["Del(19)(p13.12)","Monosomia 19p13.12"]},"cs":{"name":"Syndrom mikrodelece 19p13.12","synonyms":["Del(19)(p13.12)","Monozomie 19p13.12"]},"uk":{"name":"Синдром мікроделеції 19p13.12","synonyms":["Del(19)(p13.12)","Моносомія 19p13.12"],"definition":"19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism."},"zh":{"name":"染色体19p13.12微缺失综合征","synonyms":["19p13.12单体"],"definition":"19p13.12微缺失综合征是一种新发现的以中、重度发育迟缓、语言迟缓、双侧感音神经性和/或传导性听力损失和面部畸形为特征的综合征。"},"tr":{"name":"19p13.12 mikrodelesyon sendromu","synonyms":["Del (19) (p13.12)","Monozomi 19p13.12"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.K1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1258292853"},{"source":"MONDO","code":"0016765","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304579","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10991","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261983,"name":"Partial deletion of the short arm of chromosome 19 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"22419660[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22419660[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006817","label":"Aplasia/Hypoplasia of the cerebellar vermis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006191","label":"Deep palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001869","label":"Deep plantar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","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},{"hpo":"HP:0001863","label":"Toe clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}