{"orpha":1617,"name":"Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Del(2)(q24)","Monosomy 2q24"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-1617/","orphanet_url":"https://www.orpha.net/en/disease/detail/1617","names":{"fr":{"name":"Syndrome de retard développemental-troubles du language-dystonie dopa sensible-parkinsonisme dû à la microdéletion 2q24","synonyms":["Del(2)(q24)","Monosomie 2q24"]},"de":{"name":"Syndrom der Entwicklungsverzögerung mit Sprachstörung, Dopa-reaktiver Dystonie und Parkinsonismus durch Mikrodeletion 2q24","synonyms":["Del(2)(q24)","Mikrodeletionssyndrom 2q24","Monosomie 2q24"]},"es":{"name":"Síndrome de retraso del desarrollo-trastorno del lenguaje-distonía dopa-sensible-parkinsonismo por una microdeleción 2q24","synonyms":["Del(2)(q24)","Monosomía 2q24"]},"it":{"name":"Sindrome ritardo dello sviluppo-deficit del linguaggio-distonia dopa-sensibile-parkinsonismo da microdelezione 2q24","synonyms":["Del(2)(q24)","Monosomia 2q24"]},"nl":{"name":"Ontwikkelingsachterstand - taalstoornis - doparesponsieve dystonie - parkinsonisme-syndroom door 2q24-microdeletie","synonyms":["Del(2)(q24)","Monosomie 2q24"]},"pt":{"name":"Síndrome de perturbação do desenvolvimento-perturbação da linguagem-distonia-parkinsonismo dopamina sensível","synonyms":["Del(2)(q24)","Monossomia 2q24"]},"pl":{"name":"Zespół mikrodelecji 2q24","synonyms":["Del(2)(q24)","Monosomia 2q24","Zespół z opóźnieniem rozwoju, zaburzeniami mowy, dystonią-parkinsonizmem wrażliwym na dopę wskutek mikrodelecji 2q24"]},"cs":{"name":"Mikrodeleční syndrom 2q24","synonyms":["Del(2)(q24)","Monozomie 2q24"]},"uk":{"name":"Синдром затримки розвитку-порушення мови-дофа-чутливої дистонії-паркінсонізму внаслідок мікроделеції 2q24","synonyms":["Del(2)(q24)","Моносомія 2q24"],"definition":"2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism."},"zh":{"name":"2q24微缺失综合征","synonyms":["2q24单体"]},"tr":{"name":"2q24 mikrodelesyon sendromu","synonyms":["Del (2) (q24)","Monozomi 2q24"]}},"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":"825166464"},{"source":"MONDO","code":"0015566","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538316","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931816","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3746","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":660017,"name":"Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"TBR1","name":"T-box brain transcription factor 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"24458984[PMID]","hgnc":"11590","ensembl":"ENSG00000136535","omim":"604616","loci":["2q24.2"]},{"symbol":"NR4A2","name":"nuclear receptor subfamily 4 group A member 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"32366965[PMID]","hgnc":"7981","ensembl":"ENSG00000153234","omim":"601828","loci":["2q24.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-03-23","source":"2121576[PMID]_16523518[PMID]_7717414[PMID]_4009646[PMID]_24924433[PMID]","terms":[{"hpo":"HP:0000525","label":"Abnormality iris morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010078","label":"Bullet-shaped distal phalanx of the hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","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:0001188","label":"Hand clenching","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100807","label":"Long fingers","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","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:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000190","label":"Abnormal oral frenulum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000274","label":"Small face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002871","label":"Central apnea","frequency":"Occasional (29-5%)","criteria":null}]}}