{"orpha":96147,"name":"Kleefstra syndrome due to 9q34 microdeletion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["9q subtelomeric deletion syndrome","9qSTDS","Kleefstra syndrome due to 9q subtelomeric deletion","Kleefstra syndrome due to del(9)(q34)","Kleefstra syndrome due to monosomy 9q34"],"definition":null,"note":"This disease is described under Kleefstra syndrome","url":"https://raremap.alftech.space/d/ORPHA-96147/","orphanet_url":"https://www.orpha.net/en/disease/detail/96147","names":{"fr":{"name":"Syndrome de Kleefstra dû à une microdélétion 9q34","synonyms":["9qSTDS","Syndrome de Kleefstra dû à une del(9)(q34)","Syndrome de Kleefstra dû à une délétion subtélomérique 9q","Syndrome de Kleefstra dû à une monosomie 9q34"]},"de":{"name":"Kleefstra-Syndrom durch Mikrodeletion 9q34","synonyms":["9qSTDS","Kleefstra-Syndrom durch del(9)(q34)","Kleefstra-Syndrom durch subtelomere Deletion 9q","Subtelomes Deletionssyndrom 9q"]},"es":{"name":"Síndrome de Kleefstra por microdeleción 9q34","synonyms":["9qSTDS","Síndrome de Kleefstra por del(9)(q34)","Síndrome de Kleefstra por deleción subtelomérica 9q","Síndrome de Kleefstra por monosomía 9q34","Síndrome de deleción subtelomérica 9q"]},"it":{"name":"Sindrome di Kleefstra da microdelezione 9q34","synonyms":["9qSTDS","Sindrome da delezione 9q subtelomerica","Sindrome di Kleefstra da del(9)(q34)","Sindrome di Kleefstra da delezione 9q subtelomerica","Sindrome di Kleefstra da monosomia 9q34"]},"nl":{"name":"Syndroom van Kleefstra door 9q34-microdeletie","synonyms":["9p subtelomerische deletie-syndroom","9qSTDS","Syndroom van Kleefstra door 9q subtelomerische deletie","Syndroom van Kleefstra door del(9)(q34)","Syndroom van Kleefstra door monosomie 9q34"]},"pt":{"name":"Monossomia distal 9q34"},"pl":{"name":"Zespół Kleefstra z powodu mikrodelecji 9q34","synonyms":["9qSTDS","Zespół delecji subtelomerowej 9q","Zespół Kleefstra z powodu del(9)(q34)","Zespół Kleefstra z powodu delecji subtelomerowej 9q","Zespół Kleefstra z powodu monosomii 9q34"]},"cs":{"name":"Syndrom Kleefstrové způsobený mikrodelecí 9q34","synonyms":["Syndrom 9q subtelomerické delece","9qSTDS","Syndrom Kleefstrové způsobený 9q subtelomerickou delecí","Syndrom Kleefstrové způsobený del(9)(q34)","Syndrom Kleefstrové způsobený monozomií 9q34"]},"uk":{"name":"Синдром Клефстри, зумовлений мікроделецією 9q34","synonyms":["Синдром субтеломерної делеції 9q","9qSTDS","Синдром Клефстри, зумовлений делецією субтеломеру 9q","Синдром Клефстри, зумовлений дефіцитом del(9)(q34)","Синдром Клефстри, зумовлений моносомією 9q34"]},"zh":{"name":"9q34微缺失所致Kleefstra综合征","synonyms":["9号染色体长臂亚端粒缺失所致Kleefstra综合征"]},"tr":{"name":"9q34 mikrodelesyonuna bağlı Kleefstra sendromu","synonyms":["9qSTDS","9q subtelomerik delesyon sendromu","Del (9) (q34)'e bağlı Kleefstra sendromu","Monozomi 9q34'e bağlı Kleefstra sendromu","9q subtelomerik delesyona bağlı Kleefstra sendromu"]}},"xrefs":[{"source":"OMIM","code":"610253","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0019896","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795833","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166469,"name":"Chromosomal anomaly with epilepsy as a major feature","classifications":[156,181]},{"orpha":261494,"name":"Kleefstra syndrome","classifications":[147,156,181]},{"orpha":262074,"name":"Partial deletion of the long arm of chromosome 9 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"EHMT1","name":"euchromatic histone lysine methyltransferase 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20945554[PMID]","hgnc":"24650","ensembl":"ENSG00000181090","omim":"607001","loci":["9q34.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":86.0,"area":"Worldwide","status":"Validated","source":"22670141[PMID]"},{"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":"2017-07-13","source":null,"terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011097","label":"Epileptic spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010808","label":"Protruding tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100308","label":"Cerebral cortical hemiatrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001710","label":"Conotruncal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100541","label":"Femoral hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012157","label":"Subcortical cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}