{"orpha":261652,"name":"Kleefstra 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 Kleefstra syndrome","url":"https://raremap.alftech.space/d/ORPHA-261652/","orphanet_url":"https://www.orpha.net/en/disease/detail/261652","names":{"fr":{"name":"Syndrome de Kleefstra dû à une mutation ponctuelle"},"de":{"name":"Kleefstra-Syndrom durch Punktmutationen"},"es":{"name":"Síndrome de Kleefstra por una mutación puntual"},"it":{"name":"Sindrome di Kleefstra da mutazione puntiforme"},"nl":{"name":"Syndroom van Kleefstra door puntmutatie"},"pt":{"name":"Síndrome Kleefstra por uma mutação pontual"},"pl":{"name":"Zespół Kleefstra z powodu mutacji punktowej"},"cs":{"name":"Kleefstrové syndrom způsobený bodovou mutací"},"uk":{"name":"Синдром Клефстри, зумовлений точковою мутацією"},"zh":{"name":"点突变所致Kleefstra综合征"},"tr":{"name":"Nokta mutasyonuna bağlı Kleefstra sendromu"}},"xrefs":[{"source":"OMIM","code":"610253","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617768","qualifier":"BTNT","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":"0016865","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680724","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261494,"name":"Kleefstra syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"EHMT1","name":"euchromatic histone lysine methyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20945554[PMID]","hgnc":"24650","ensembl":"ENSG00000181090","omim":"607001","loci":["9q34.3"]},{"symbol":"KMT2C","name":"lysine methyltransferase 2C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29069077[PMID]","hgnc":"13726","ensembl":"ENSG00000055609","omim":"606833","loci":["7q36.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"22670141[PMID]_[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":"2020-11-10","source":"22670141[PMID]_27123477[PMID]_23232695[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","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:0001627","label":"Abnormal heart morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001548","label":"Overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200005","label":"Abnormal shape of the palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033127","label":"Abnormality of the musculoskeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011351","label":"Moderate receptive language delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006863","label":"Severe expressive language delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009909","label":"Uplifted earlobe","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},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002171","label":"Gliosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000695","label":"Natal tooth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002779","label":"Tracheomalacia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very rare (<4-1%)","criteria":null}]}}