{"orpha":500166,"name":"SIN3-related intellectual disability syndrome due to a point mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Witteveen-Kolk syndrome","url":"https://raremap.alftech.space/d/ORPHA-500166/","orphanet_url":"https://www.orpha.net/en/disease/detail/500166","names":{"fr":{"name":"Syndrome de déficience intellectuelle associé à SIN3 dû à une mutation ponctuelle"},"de":{"name":"Intelligenzminderung-Syndrom, SIN3A-assoziiertes"},"es":{"name":"Síndrome de discapacidad intelectual asociado al gen SIN3A por una mutación puntual"},"it":{"name":"Disabilità intellettiva da mutazione puntiforme di SIN3A"},"nl":{"name":"SIN3A-gerelateerde intellectuele achterstand-syndroom door puntmutatie"},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual por mutação pontual SIN3A-relacionada"},"pl":{"name":"Zespół niepełnosprawności intelektualnej uwarunkowany mutacją punktową SIN3A"},"cs":{"name":"Mentální retardace z bodové mutace SIN3A"},"uk":{"name":"SIN3-повязаний синдром інтелектуальної недостатності, зумовлений точковою мутацією"},"zh":{"name":"SIN3A点突变导致的智力障碍综合征"},"tr":{"name":"Nokta mutasyonu nedeniyle SIN3A ile zihinsel yetersizlik sendromu"}},"xrefs":[{"source":"OMIM","code":"613406","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044700","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925038","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":500163,"name":"Witteveen-Kolk syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"SIN3B","name":"SIN3 transcription regulator family member B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"33811806[PMID]","hgnc":"19354","ensembl":"ENSG00000127511","omim":"607777","loci":["19p13.11"]},{"symbol":"SIN3A","name":"SIN3 transcription regulator family member A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27399968[PMID]","hgnc":"19353","ensembl":"ENSG00000169375","omim":"607776","loci":["15q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-11","source":"27399968[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:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040195","label":"Decreased head circumference","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032059","label":"Mild malformation of cortical development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006989","label":"Dysplastic corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001808","label":"Fragile nails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null}]}}