{"orpha":268261,"name":"DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["21q22.13q22.2 microdeletion syndrome","Del(21)(q22.13q22.2)","Monosomy 21q22.13q22.2"],"definition":"A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268261/","orphanet_url":"https://www.orpha.net/en/disease/detail/268261","names":{"fr":{"name":"Syndrome de déficience intellectuelle associé à DYRK1A dû à une microdélétion 21q22.13-q22.2","synonyms":["Del(21)(q22.13q22.2)","Monosomie 21q22.13q22.2","Syndrome de microdélétion 21q22.13q22.2"],"definition":"Déficience intellectuelle syndromique rare caractérisée par un retard global du développement, ainsi qu'un retard sévère de langage ou une absence de parole, une déficience intellectuelle modérée à sévère, des troubles du comportement, un comportement stéréotypé, des crises fébriles et épileptiques, des troubles de la marche, des défauts de la vision et des traits faciaux caractéristiques. Un retard de croissance intra-utérin et des difficultés à s'alimenter sont fréquents."},"de":{"name":"Intelligenzminderung-Syndrom, DYRK1A-assoziiertes, durch Mikrodeletion 21q22.13q22.2","synonyms":["Del(21)(q22.13q22.2)","Mikrodeletionssyndrom 21q22.13q22.2","Monosomie 21q22.13q22.2"]},"es":{"name":"Síndrome de discapacidad intelectual asociado a DYRK1A por microdeleción 21q22.13q22.2","synonyms":["Del(21)(q22.13q22.2)","Monosomía 21q22.13q22.2","Síndrome de microdeleción 21q22.13q22.2"],"definition":"Es una discapacidad intelectual sindrómica poco frecuente caracterizada por retraso global del desarrollo, incluyendo notable retraso o ausencia del habla, discapacidad intelectual de moderada a grave, trastornos de conducta, comportamiento estereotipado, crisis febriles y epilepsia, anomalías de la marcha, defectos de la visión y rasgos faciales característicos. Se asocia con frecuencia a retraso del crecimiento intrauterino y dificultades en la alimentación."},"it":{"name":"Sindrome da disabilità intellettiva correlata a DYRK1A da microdelezione 21q22.13q22.2","definition":"È una disabilità intellettiva sindromica rara, caratterizzata da ritardo dello sviluppo globale, assenza o grave ritardo del linguaggio, disabilità intellettiva moderata o grave, problemi comportamentali, con comportamenti stereotipati, crisi epilettiche febbrili, anomalie della deambulazione, difetti della vista e dismorfismi caratteristici. Spesso i pazienti presentano ritardo della crescita prenatale e difficoltà di alimentazione."},"nl":{"name":"DYRK1A-gerelateerd intellectuele achterstand-syndroom door 21q22.13q22.2-microdeletie","synonyms":["21q22.13q22.2-microdeletiesyndroom","Del(21)(q22.13q22.2)","Monosomie 21q22.13q22.2"],"definition":"Een zeldzame, syndromale intellectuele beperking die gekarakteriseerd wordt door algehele ontwikkelingsachterstand waaronder ernstig vertraagde of afwezige spraak, matige tot ernstige intellectuele achterstand, gedragsproblemen, stereotiep gedrag, febriele insulten en epilepsie, abnormale gang, visuele problemen, en typische gelaatskenmerken. Intra-uteriene groeirestrictie en voedingsproblemen zijn vaak aanwezig."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual DYRK1A-relacionada por microdeleção 21q22.13q22.2","synonyms":["Del(21)(q22.13q22.2)","Monossomia 21q22.13-q22.2","Monossomia 21q22.13q22.2","Síndrome de microdeleção 21q22.13-q22.2"]},"pl":{"name":"Zespół niepełnosprawności intelektualnej związany z DYRK1A spowodowany mikrodelecją 21q22.13q22.2","synonyms":["Del(21)(q22.13q22.2)","Monosomia 21q22.13q22.2","Monosomia 21q22.13-q22.2","Zespół mikrodelecji 21q22.13q22.2","Zespół mikrodelecji 21q22.13-q22.2"]},"cs":{"name":"Syndrom mikrodelece 21q22.13q22.2","synonyms":["Syndrom mikrodelece 21q22.13-q22.2","Del(21)(q22.13q22.2)","Monozomie 21q22.13-q22.2","Monozomie 21q22.13q22.2"]},"uk":{"name":"DYRK1A-асоційований синдром інтелектуальної недостатності, зумовлений мікроделецією 21q22.13q22.2","synonyms":["21q22.13q22.2 синдром мікроделеції","Del(21)(q22.13q22.2)","Моносомія 21q22.13q22.2"],"definition":"A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present."},"zh":{"name":"21q22.13q22.2微缺失所致DYRK1A基因相关智力残疾综合征","synonyms":["21q22.13q22.2微缺失综合征"],"definition":"一种罕见的综合征性智力障碍，其特征是全面的发育迟缓，包括严重的语言发育迟缓或失语、中度到严重的智力障碍、行为问题、刻板行为、热性惊厥和癫痫、异常步态、视力缺陷和特有的面部特征。胎儿宫内生长受限和喂养困难经常出现。"},"tr":{"name":"21q22.13q22.2 mikrodelesyonuna bağlı DYRK1A -ilişkili zihinsel yetersizlik sendromu","synonyms":["Del(21)(q22.13q22.2)","Monozomi 21q22.13q22.2","21q22.13q22.2 mikrodelesyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"614104","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.M","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1562040181"},{"source":"MONDO","code":"0017056","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191008","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":464306,"name":"DYRK1A-related intellectual disability syndrome","classifications":[147,156,181]},{"orpha":262173,"name":"Partial deletion of the long arm of chromosome 21 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"DYRK1A","name":"dual specificity tyrosine phosphorylation regulated kinase 1A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21031080[PMID]_25944381[PMID]_26677511[PMID]","hgnc":"3091","ensembl":"ENSG00000157540","omim":"600855","loci":["21q22.13"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"26922654[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26922654[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-09-11","source":"25944381[PMID]_26677511[PMID]_31263215[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"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:0005768","label":"2-4 toe cutaneous syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001780","label":"Abnormality of toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003429","label":"CNS hypomyelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002365","label":"Hypoplasia of the brainstem","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011757","label":"Posterior pituitary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025163","label":"Abnormality of optic chiasm morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011822","label":"Broad chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000041","label":"Chordee","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010946","label":"Dilatation of the renal pelvis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","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:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002171","label":"Gliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002021","label":"Pyloric stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000049","label":"Shawl scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011917","label":"Short 5th toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012171","label":"Stereotypical hand wringing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011147","label":"Typical absence seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001641","label":"Abnormal pulmonary valve morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100783","label":"Breast aplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000185","label":"Cleft soft palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040188","label":"Osteochondrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010314","label":"Premature thelarche","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Very rare (<4-1%)","criteria":null}]}}