{"orpha":238769,"name":"1q44 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(1)(q44)","Monosomy 1q44"],"definition":"1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-238769/","orphanet_url":"https://www.orpha.net/en/disease/detail/238769","names":{"fr":{"name":"Syndrome de microdélétion 1q44","synonyms":["Del(1)(q44)","Monosomie 1q44"],"definition":"La microdélétion 1q44 est un syndrome de description récente associé à une dysmorphie faciale, un déficit intellectuel avec surtout un retard de langage, des convulsions et une hypotonie."},"de":{"name":"Mikrodeletionssyndrom 1q44","synonyms":["Del(1)(q44)","Monosomie 1q44"],"definition":"Das 1q44-Mikrodeletions-Syndrom ist ein neubeschriebenes Syndrom mit fazialen Dysmorphien, Entwicklungsverzögerung, besonders der expressiven Sprache, Krampfanfällen und Muskelhypotonie."},"es":{"name":"Síndrome de microdeleción 1q44","synonyms":["Del(1)(q44)","Monosomía 1q44"],"definition":"El síndrome de microdeleción 1q44 es un síndrome asociado a dismorfia facial y discapacidad intelectual, en particular a retraso del lenguaje, convulsiones e hipotonía."},"it":{"name":"Sindrome da microdelezione 1q44","synonyms":["Del(1)(q44)","Monosomia 1q44"],"definition":"La sindrome da microdelezione 1q44, descritta di recente, è caratterizzata da dismorfismi facciali, ritardo dello sviluppo, in particolare del linguaggio espressivo, convulsioni e ipotonia."},"nl":{"name":"1q44-microdeletiesyndroom","synonyms":["Del(1)(q44)","Monosomie 1q44"],"definition":"Een syndroom, gekenmerkt door faciale dysmorfie, ontwikkelingsachterstand, vooral van expressieve taal, insulten, en hypotonie."},"pt":{"name":"Síndrome de microdeleção 1q44","definition":"A síndrome de microdeleção 1q44 é uma síndrome recentemente descrita associada a dismorfismo facial, atraso do desenvolvimento, em particular da linguagem expressiva, convulsões e hipotonia."},"pl":{"name":"Zespół mikrodelecji 1q44","synonyms":["Del(1)(q44)","Monosomia 1q44"]},"cs":{"name":"Mikrodeleční syndrom 1q44","synonyms":["Del(1)(q44)","Monozomie 1q44"]},"uk":{"name":"Синдром мікроделеції 1q44","synonyms":["Del(1)(q44)","Моносомія 1q44"],"definition":"1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia."},"zh":{"name":"染色体1q44微缺失综合征","synonyms":["1q44单体"],"definition":"1q44微缺失综合征是一种新报道的与面部畸形、发育迟缓，尤其是表性语言、癫痫和肌张力低下有关的综合征。"},"tr":{"name":"1q44 mikrodelesyon sendromu","synonyms":["Del (1) (q44)","Monozomi 1q44"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"831216578"},{"source":"MONDO","code":"0016561","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304540","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10943","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262001,"name":"Partial deletion of the long arm of chromosome 1 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"HNRNPU","name":"heterogeneous nuclear ribonucleoprotein U","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"28283832[PMID]","hgnc":"5048","ensembl":"ENSG00000153187","omim":"602869","loci":["1q44"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"21800092[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"24214579[PMID]_22975012[PMID]","terms":[{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","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:0002263","label":"Exaggerated cupid's bow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007766","label":"Optic disc hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}