{"orpha":464311,"name":"Intellectual disability syndrome due to a DYRK1A point mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["DYRK1A-related intellectual disability syndrome due to a point mutation"],"definition":null,"note":"This disease is described under DYRK1A-related intellectual disability syndrome","url":"https://raremap.alftech.space/d/ORPHA-464311/","orphanet_url":"https://www.orpha.net/en/disease/detail/464311","names":{"fr":{"name":"Syndrome de déficience intellectuelle dû à une mutation ponctuelle de DYRK1A"},"de":{"name":"Intelligenzminderung durch Punktmutationen im DYRK1A-Gen"},"es":{"name":"Síndrome de discapacidad intelectual por una mutación puntual en el gen DYRK1A","synonyms":["Síndrome de discapacidad intelectual asociado a DYRK1A por una mutación puntual","Síndrome de discapacidad intelectual asociado al gen DYRK1A por una mutación puntual"]},"it":{"name":"Sindrome disabilità intellettiva da mutazione puntiforme in DYRK1A","synonyms":["Disabilità intellettiva sindromica correlata a DYRK1A da mutazione puntiforme"]},"nl":{"name":"Intellectuele achterstand-syndroom door puntmutatie in DYRK1A","synonyms":["DYRK1A-gerelateerd intellectuele achterstand-syndroom door puntmutatie"]},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual devida a mutação pontual DYRK1A","synonyms":["Síndrome de perturbação do desenvolvimento intelectual devida a mutação pontual DYRK1A-relacionada"]},"pl":{"name":"Zespół niepełnosprawności intelektualnej spowodowany mutacją punktową DYRK1A","synonyms":["Zespół niepełnosprawności intelektualnej zależny od DYRK1A spowodowany mutacją punktową"]},"cs":{"name":"Syndrom s mentální retardací způsobený bodovou mutací DYRK1A","synonyms":["DYRK1A-related intellectual disability syndrome due to a point mutation","Syndrom mentálního postižení souvisejícího s DYRK1A způsobený bodovou mutací"]},"uk":{"name":"Синдром інтелектуальної недостатності, зумовлений точковою мутацією DYRK1A","synonyms":["Синдром інтелектуальної недостатності, повязаний з DYRK1A, внаслідок точкової мутації"]},"zh":{"name":"DYRK1A点突变相关的智力障碍","synonyms":["DYRK1A点突变相关的智力障碍综合症"]},"tr":{"name":"DYRK1A nokta mutasyonuna bağlı zihinsel yetersizlik sendromu","synonyms":["Nokta mutasyonuna bağlı DYRK1A-ilişkili zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"614104","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018733","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679991","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]}],"children":[],"genes":[{"symbol":"DYRK1A","name":"dual specificity tyrosine phosphorylation regulated kinase 1A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25944381[PMID]_25641759[PMID]_26677511[PMID]","hgnc":"3091","ensembl":"ENSG00000157540","omim":"600855","loci":["21q22.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"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":"2020-09-16","source":"26922654[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","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:0011968","label":"Feeding difficulties","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:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009121","label":"Abnormal axial skeleton morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003561","label":"Birth length less than 3rd percentile","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006466","label":"Ankle flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012785","label":"Flexion contracture of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","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:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011757","label":"Posterior pituitary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","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:0001831","label":"Short toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011171","label":"Simple febrile seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","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:0000028","label":"Cryptorchidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002247","label":"Duodenal atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000125","label":"Pelvic kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Very rare (<4-1%)","criteria":null}]}}