{"orpha":250999,"name":"1q41q42 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(1)(q41q42)","Monosomy 1q41q42"],"definition":"1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-250999/","orphanet_url":"https://www.orpha.net/en/disease/detail/250999","names":{"fr":{"name":"Syndrome de microdélétion 1q41q42","synonyms":["Del(1)(q41q42)","Monosomie 1q41q42"],"definition":"Anomalie chromosomique rare caractérisée par un retard grave de développement et/ou une déficience intellectuelle, une dysmorphie faciale typique, des anomalies cérébrales, des convulsions, une fente palatine, des pieds bots, une hypoplasie des ongles et une cardiopathie congénitale."},"de":{"name":"Mikrodeletionssyndrom 1q41q42","synonyms":["Del(1)(q41q42)","Monosomie 1q41-q42"]},"es":{"name":"Síndrome de microdeleción 1q41q42","synonyms":["Del(1)(q41q42)","Monosomía 1q41q42"],"definition":"Es una anomalía cromosómica caracterizada por un retraso grave del desarrollo y/o discapacidad intelectual, características dismórficas faciales típicas, anomalías cerebrales, crisis epilépticas, paladar hendido, pie zambo, hipoplasia ungueal y cardiopatía congénita."},"it":{"name":"Sindrome da microdelezione 1q41q42","synonyms":["Del(1)(q41q42)","Monosomia 1q41-q42","Monosomia 1q41q42","Sindrome da microdelezione 1q41-q42"]},"nl":{"name":"1q41q42-microdeletiesyndroom","synonyms":["Del(1)(q41q42)","Monosomie 1q41q42"],"definition":"1q41q42 microdeletiesyndroom is een chromosoomafwijking die gekenmerkt wordt door een ernstige ontwikkelingsachterstand en/of intellectuele beperking, typische faciale dysmorfe kenmerken, hersenafwijkingen, insulten, gespleten gehemelte, klompvoeten, nagelhypoplasie en aangeboren hartziekte."},"pt":{"name":"Síndrome de microdeleção 1q41-q42","synonyms":["Monossomia 1q41-q42"]},"pl":{"name":"Zespół mikrodelecji 1q41q42","synonyms":["Del(1)(q41q42)","Monosomia 1q41q42","Monosomia 1q41-q42","Zespół mikrodelecji 1q41-q42"]},"cs":{"name":"Mikrodeleční syndrom 1q41q42","synonyms":["Del(1)(q41q42","Monozomie 1q41-q42","Monozomie 1q41q42","Mikrodeleční syndrom 1q41-q42"]},"uk":{"name":"Синдром мікроделеції 1q41q42","synonyms":["Del(1)(q41q42)","Моносомія 1q41q42"],"definition":"1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease."},"zh":{"name":"染色体1q41q42微缺失综合征","synonyms":["1q41q42单体"],"definition":"1q41q42微缺失综合征是一种以严重发育迟缓和/或智力障碍、典型面部畸形、脑异常、癫痫发作、腭裂、马蹄内翻足、指甲发育不良和先天性心脏病为特征的染色体异常。"},"tr":{"name":"1q41q42 mikrodelesyon sendromu","synonyms":["Del (1) (q41q42)","Monozomi 1q41q42"]}},"xrefs":[{"source":"OMIM","code":"612530","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"740947783"},{"source":"MONDO","code":"0012927","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274528","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3738","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":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-03-23","source":"25900767[PMID]_7894732[PMID]_9728329[PMID]_19184110[PMID]_20799323[PMID]_20358614[PMID]_17873649[PMID]_23542665[PMID]","terms":[{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000525","label":"Abnormality iris morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011447","label":"Hyposegmentation of neutrophil nuclei","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Occasional (29-5%)","criteria":null}]}}