{"orpha":453504,"name":"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies 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 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome","url":"https://raremap.alftech.space/d/ORPHA-453504/","orphanet_url":"https://www.orpha.net/en/disease/detail/453504","names":{"fr":{"name":"Syndrome de dysmorphie craniofaciale-anomalies squelettiques-cardiopathie-trouble neurologique du développement dû à une mutation ponctuelle"},"de":{"name":"Neurologische Entwicklungsstörungen-kranio-faziale Dysmorphie-Herzfehler-Hüftdysplasie-Syndrom durch Punktmutationen"},"es":{"name":"Síndrome de trastorno del neurodesarrollo-dismorfia craneofacial-defecto cardíaco-anomalías esqueléticas, por una mutación puntual"},"it":{"name":"Sindrome difetto del neurosviluppo-dismorfismi craniofacciali-cardiopatia-displasia dell'anca, da mutazione puntiforme","synonyms":["Sindrome di Au-Kline"]},"nl":{"name":"Neurologische ontwikkelingsstoornis - craniofaciale dysmorfie - hartdefect - skeletanomalieën-syndroom door een puntmutatie"},"pt":{"name":"Síndrome de perturbação do neurodesenvolvimento-dismorfia craniofacial-anomalia cardíaca-anomalias esqueléticas devido a uma mutação pontual"},"pl":{"name":"Zespół zaburzeń nerurorozwojowych-dysmorfii twarzoczaszki-wady serca-anomalii szkieletowych wywołany mutacją punktową","synonyms":["Zespół Au i Kline"]},"cs":{"name":"Syndrom zahrnující neurovývojovou poruchu, kraniofaciální dysmorfismus, srdeční vady a kyčelní dysplázii, způsobený bodovými mutacemi","synonyms":["Auův-Klinové syndrom","Au-Klinové syndrom"]},"uk":{"name":"Синдром порушення нейророзвитку-черепно-лицьового дизморфізму-серцевої вади-скелетних аномалій, зумовлений точковою мутацією"},"zh":{"name":"点突变引起的神经发育障碍-颅面畸形-心脏缺陷-骨骼异常综合征"},"tr":{"name":"Nokta mutasyonuna bağlı nörogelişimsel bozukluk-kraniyofasiyal dismorfizm-kardiyak defekt-iskelet anomalileri sendromu"}},"xrefs":[{"source":"OMIM","code":"616580","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5848390","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":453499,"name":"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome","classifications":[147,148,156,181,199]}],"children":[],"genes":[{"symbol":"HNRNPK","name":"heterogeneous nuclear ribonucleoprotein K","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26173930[PMID]","hgnc":"5044","ensembl":"ENSG00000165119","omim":"600712","loci":["9q21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"29904177[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29904177[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-13","source":"29904177[PMID]_30998304[PMID]","terms":[{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Frequent 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