{"orpha":662179,"name":"Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome","Nabais Sa-de Vries type 1 syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-662179/","orphanet_url":"https://www.orpha.net/en/disease/detail/662179","names":{"fr":{"name":"Syndrome de microcéphalie-surdité neurosensorielle-dysmorphie faciale-déficience intellectuelle","synonyms":["Syndrome de Nabais Sa-de Vries type 1"]},"de":{"name":"Mikrozephalie-Hörverlust-Gesichtsdysmophie-Intelligenzminderung-Syndrom","synonyms":["Mikrozephalie-Taubheit-Gesichtsdysmophie-Intelligenzminderung-Syndrom","Nabais-Sa-de-Vries-Syndrom Typ 1"]},"es":{"name":"Síndrome de microcefalia-hipoacusia-dismofia facial-discapacidad intelectual","synonyms":["Síndrome de Nabais Sa-de Vries tipo 1","Síndrome de microcefalia-sordera-dismofia facial-discapacidad intelectual","Síndrome de microcefalia-sordera-dismorfia facial-discapacidad intelectual"]},"it":{"name":"Sindrome microcefalia-sordità-dismorfismi facciali-disabilità intellettiva","synonyms":["Sindrome di Nabais Sa-de Vries tipo 1","Sindrome microcefalia-sordità-dismorfismi facciali-disabilità intellettiva"]},"nl":{"name":"Microcefalie - gehoorverlies - faciale dysmorfie - intellectuele achterstand-syndroom","synonyms":["Microcefalie - doofheid - faciale dysmorfie - intellectuele achterstand-syndroom","Syndroom van Nabais Sa-de Vries type 1"]},"pt":{"name":"Síndrome de microcefalia-perda auditiva-dismorfia facial-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Nabais Sa-de Vries tipo 1","Síndrome de microcefalia-surdez-dismorfia facial-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Zespół z małogłowiem, niedosłuchem, dysmorfią twarzy i niepełnosprawnością intelektualną","synonyms":["Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome","Nabais Sa-de Vries type 1 syndrome"]},"cs":{"name":"Syndrom zahrnující mikrocefalii, ztrátu sluchu, faciální dysmorfii a intelektovou nedostatečnost","synonyms":["Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome","Nabais Sa-de Vries type 1 syndrome"]},"uk":{"name":"Синдром мікроцефалії-втрати слуху-дисморфізму обличчя-інтелектуальної недостатності","synonyms":["Синдром мікроцефалії-глухоти-дизморфізму обличчя- інтелектуальної недостатності","Синдром Набе-Са-де-Врі 1-го типу"]}},"xrefs":[{"source":"OMIM","code":"618828","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0032942","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"32942","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5394218","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]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"SPOP","name":"speckle type BTB/POZ protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"32109420[PMID]","hgnc":"11254","ensembl":"ENSG00000121067","omim":"602650","loci":["17q21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"32109420[PMID]_35892095[PMID]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"32109420[PMID]_35892095[PMID]"}],"phenotypes":null}