{"orpha":447980,"name":"19p13.3 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(19)(p13.3)"],"definition":"A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447980/","orphanet_url":"https://www.orpha.net/en/disease/detail/447980","names":{"fr":{"name":"Syndrome de microduplication 19p13.3","synonyms":["Dup(19)(p13.3)"],"definition":"Déficience intellectuelle syndromique rare, d'origine génétique, caractérisée par un retard de croissance intra-utérin, une microcéphalie, une hypotonie, un retard moteur et neurodéveloppemental, un retard de langage, une déficience intellectuelle et une légère dysmorphie."},"de":{"name":"Mikroduplikationssyndrom 19p13.3","synonyms":["Dup(19)(p13.13)"]},"es":{"name":"Síndrome de microduplicación 19p13.3","synonyms":["Dup(19)(p13.13)"],"definition":"Es una discapacidad intelectual sindrómica de origen genético, poco frecuente, caracterizada por retraso del crecimiento intrauterino, microcefalia, hipotonía, retraso motor y del neurodesarrollo, retraso del habla, discapacidad intelectual y rasgos dismórficos leves."},"it":{"name":"Sindrome da microduplicazione 19p13.3","synonyms":["Dup(19)(p13.13)"],"definition":"La sindrome da microduplicazione 19p13.3 è una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da ritardo della crescita prenatale, microcefalia, ipotonia, ritardo dello sviluppo motorio e neurologico, ritardo del linguaggio, disabilità intellettiva e dismorfismi sfumati."},"nl":{"name":"19p13.3-microduplicatiesyndroom","synonyms":["Dup(19)(p13.3)"],"definition":"Een zeldzame, genetische, syndromale intellectuele achterstand, gekarakteriseerd door intra-uteriene groeiretardatie, microcefalie, hypotonie, motorische en neurologische ontwikkelingsachterstand, spraakachterstand, intellectuele achterstand, en milde dysmorfe kenmerken."},"pt":{"name":"Síndrome de microduplicação 19p13.3","synonyms":["Dup(19)(p13.3)"]},"pl":{"name":"Zespół mikroduplikacji 19p13.3","synonyms":["Dup(19)(p13.13)"],"definition":"*Zespół mikroduplikacji 19p13.3 jest rzadkim, genetycznie uwarunkowanym zespołem z niepełnosprawnością intelektualną, który charakteryzuje się wewnątrzmacicznym zahamowaniem wzrastania, małogłowiem, hipotonią, opóźnieniem ruchowym i neurorozwojowym, opóźnieniem mowy, niepełnosprawnością intelektualną i łagodnymi cechami dysmorficznymi."},"cs":{"name":"Mikroduplikační syndrom 19p13.3","synonyms":["Dup(19)(p13.13)"]},"uk":{"name":"Синдром мікродуплікації 19p13.3","synonyms":["Dup(19)(p13.3)"],"definition":"A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features."},"zh":{"name":"19p13.3微重复综合征","synonyms":["(19)(p13.13)重复"],"definition":"一种罕见的遗传综合症智力障碍，特征是子宫内生长迟缓，小头畸形，肌张力低下，运动和神经发育延迟，语言障碍，智力障碍和轻度畸形。"},"tr":{"name":"19p13.3 mikroduplikasyon sendromu","synonyms":["Dup(19)(p13.13)"]}},"xrefs":[{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018658","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679996","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":447985,"name":"Partial duplication of the short arm of chromosome 19 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"NFIX","name":"nuclear factor I X","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"29184170[PMID]","hgnc":"7788","ensembl":"ENSG00000008441","omim":"164005","loci":["19p13.13"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"25858326[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25858326[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-09","source":"25858326[PMID]_20613546[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"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:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth 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(79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002572","label":"Episodic vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030043","label":"Hip subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012741","label":"Unilateral cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}