{"orpha":689829,"name":"Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-689829/","orphanet_url":"https://www.orpha.net/en/disease/detail/689829","names":{"fr":{"name":"Syndrome de microphtalmie-retard moteur-retard de langage-anomalies cérébrales-hernie diaphragmatique"},"de":{"name":"Mikrophthalmie-motorische Entwicklungsverzögerung-Sprachverzögerung-Hirnanomalien-Zwerchfellhernie-Syndrom"},"es":{"name":"Síndrome de microftalmia-retraso motor-retraso del lenguaje-anomalías cerebrales-hernia diafragmática"},"it":{"name":"Sindrome microftalmia-ritardo motorio-ritardo del linguaggio-anomalie cerebrali-ernia diaframmatica"},"nl":{"name":"Microftalmie - motorische achterstand - taalachterstand - hersenanomalieën - hernia diaphragmatica-syndroom"},"pt":{"name":"Síndrome de microftalmia-atraso motor-atraso de linguagem-anomalias cerebrais-hérnia diafragmática"},"pl":{"name":"Zespół z małogłowiem opóźnieniem ruchowym i mowy, wadami mózgu i przepukliną przeponową"},"cs":{"name":"Syndrom zahrnující mikroftalmii, motorické opoždění, opoždění řeči, mozkové anomálie a brániční kýlu"}},"xrefs":[{"source":"OMIM","code":"615524","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q11.2","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"14229","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":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]},{"orpha":108973,"name":"Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,156,182]}],"children":[],"genes":[{"symbol":"RARB","name":"retinoic acid receptor beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37092537[PMID]","hgnc":"9865","ensembl":"ENSG00000077092","omim":"180220","loci":["3p24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"37092537[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"37092537[PMID]_ORPHANET"}],"phenotypes":null}