{"orpha":662175,"name":"Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Nabais Sa-de Vries type 2 syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-662175/","orphanet_url":"https://www.orpha.net/en/disease/detail/662175","names":{"fr":{"name":"Syndrome de macrocéphalie-cardiopathie congénitale-dysmorphie faciale-déficience intellectuelle","synonyms":["Syndrome de Nabais Sa-de Vries type 2"]},"de":{"name":"Makrozephalie-kongenitale Herzerkrankung-Gesichtsdysmophie-Intelligenzminderung-Syndrom","synonyms":["Nabais-Sa-de-Vries-Syndrom Typ 2"]},"es":{"name":"Síndrome de macrocefalia-cardiopatía congénita-dismofia facial-discapacidad intelectual","synonyms":["Síndrome de Nabais Sa-de Vries tipo 2"]},"it":{"name":"Sindrome macrocefalia-cardiopatia congenita-dismorfismi facciali-disabilità intellettiva","synonyms":["Sindrome di Nabais Sa-de Vries tipo 2"]},"nl":{"name":"Macrocefalie - congenitale hartziekte - faciale dysmorfie - intellectuele achterstand-syndroom","synonyms":["Syndroom van Nabais Sa-de Vries type 2"]},"pt":{"name":"Síndrome de macrocefalia-doença cardíaca congénita-dismorfia facial-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Nabais Sa-de Vries tipo 2"]},"pl":{"name":"Zespół z wielkogłowiem, wrodzoną wadą serca, dysmorfią twarzy i niepełnosprawnością intelektualną","synonyms":["Nabais Sa-de Vries type 2 syndrome"]},"cs":{"name":"Syndrom zahrnující makrocefalii, vrozenou srdeční vadu, faciální dysmorfii a intelektovou nedostatečnost","synonyms":["Nabais Sa-de Vries type 2 syndrome"]},"uk":{"name":"Синдром макроцефалії-вроджених вад серця-дисморфізму обличчя-інтелектуальної недостатності","synonyms":["Синдром Набе-Са-де-Врі 2 типу"]}},"xrefs":[{"source":"OMIM","code":"618829","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032943","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"32943","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5394221","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"SPOP","name":"speckle type BTB/POZ protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"32109420[PMID]","hgnc":"11254","ensembl":"ENSG00000121067","omim":"602650","loci":["17q21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"32109420[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"32109420[PMID]_ORPHANET"}],"phenotypes":null}