{"orpha":251014,"name":"2q31.1 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(2)(q31.1)","Monosomy 2q31.1"],"definition":"2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251014/","orphanet_url":"https://www.orpha.net/en/disease/detail/251014","names":{"fr":{"name":"Syndrome de microdélétion 2q31.1","synonyms":["Del(2)(q31.1)","Monosomie 2q31.1"],"definition":"Le syndrome de microdélétion 2q31.1 est un syndrome cliniquement reconnaissable défini par un retard de développement modéré à sévère, une petite taille, une dysmorphie faciale et des anomalies variables des membres."},"de":{"name":"Mikrodeletionssyndrom 2q31.1","synonyms":["Del(2)(q31.1)","Monosomie 2q31.1"],"definition":"Das 2q31.1-Mikrodeletion-Syndrom ist ein gut abgegrenztes, klinisch erkennbares Syndrom mit moderater bis schwerer Enwicklungsverzögerung, Kleinwuchs, Mikrozephalie, fazialen Dysmorphien und verschiedenen Anomalien der Gliedmaßen."},"es":{"name":"Síndrome de microdeleción 2q31.1","synonyms":["Del(2)(q31.1)","Monosomía 2q31.1"],"definition":"El síndrome de microdeleción 2q31.1 es un síndrome bien definido y clínicamente reconocible, caracterizado por un retraso del desarrollo de moderado a grave, estatura baja, dismorfismo facial y defectos variables de las extremidades."},"it":{"name":"Sindrome da microdelezione 2q31.1","synonyms":["Del(2)(q31.1)","Monosomia 2q31.1"],"definition":"La sindrome da microdelezione 2q31.1 è una malattia clinicamente riconoscibile, caratterizzata da ritardo dello sviluppo moderato-grave, bassa statura, dismorfismi facciali e anomalie variabili degli arti."},"nl":{"name":"2q31.1-microdeletiesyndroom","synonyms":["Del(2)(q31.1)","Monosomie 2q31.1"],"definition":"Een goed gedefinieerd en klinisch herkenbaar syndroom, gekenmerkt door matige tot ernstige ontwikkelingsachterstand, kleine gestalte, faciale dysmorfie, en variabele defecten van ledematen."},"pt":{"name":"Síndrome de microdeleção 2q31.1","synonyms":["Monossomia 2q31.1"],"definition":"A síndrome de microdeleção 2q31.1 é uma síndrome bem definida e clinicamente reconhecível caracterizada por atraso de desenvolvimento moderada a grave, baixa estatura, dismorfismo facial e defeitos variáveis nos membros."},"pl":{"name":"Zespół mikrodelecji 2q31.1","synonyms":["Del(2)(q31.1)","Monosomia 2q31.1"]},"cs":{"name":"Syndrom mikrodelece 2q31.1","synonyms":["Del(2)(q31.1)","Monosomie 2q31.1"]},"uk":{"name":"Синдром мікроделеції 2q31.1","synonyms":["Del(2)(q31.1)","Моносомія 2q31.1"],"definition":"2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects."},"zh":{"name":"染色体2q31.1微缺失综合征","synonyms":["2q31.1单体"],"definition":"2q31.1微缺失综合征是一种定义明确、临床可识别的综合征，以中、重度发育迟缓、身材矮小、面部畸形和肢体畸形为特征。"},"tr":{"name":"2q31.1 mikrodelesyon sendromu","synonyms":["Del (2) (q31.1)","Monozomi 2q31.1"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.20","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"491362822"},{"source":"MONDO","code":"0016652","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274647","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262010,"name":"Partial deletion of the long arm of chromosome 2 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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","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:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000864","label":"Abnormality of the hypothalamus-pituitary axis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","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:0000589","label":"Coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100257","label":"Ectrodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}