{"orpha":662762,"name":"Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ARPC4-related syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-662762/","orphanet_url":"https://www.orpha.net/en/disease/detail/662762","names":{"fr":{"name":"Syndrome de retard moteur-microcéphalie-trouble du language-anomalies oculaires","synonyms":["Syndrome lié à ARPC4"]},"de":{"name":"Motorische Verzögerung-Mikrozephalie-Sprachstörungen-Augenanomalien-Syndrom","synonyms":["ARCP4-assoziiertes Syndrom"]},"es":{"name":"Síndrome de retraso motor-microcefalia-trastorno del habla-anomalías oculares","synonyms":["Síndrome asociado al gen ARCP4"]},"it":{"name":"Sindrome ritardo motorio-microcefalia-deficit del linguaggio-anomalie oculari","synonyms":["Sindrome correlata a ARCP4"]},"nl":{"name":"Motorische achterstand - microcefalie - spraakstoornis - oogafwijkingen-syndroom","synonyms":["ARCP4-gerelateerd syndroom"]},"pt":{"name":"Síndrome de atraso na motricidade-microcefalia-perturbação da linguagem-anomalias oculares","synonyms":["Síndrome ARCP4-relacionada"]},"pl":{"name":"Zespół z opóźnieniem ruchowym, małogłowiem, zaburzeniami mowy i nieprawidłowościami oczu","synonyms":["ARPC4-related syndrome"]},"cs":{"name":"Syndrom zahrnující opoždění motoriky, mikrocefalii, poruchu řeči a abnormality očí","synonyms":["ARPC4-related syndrome"]},"uk":{"name":"Синдром затримки моторного розвитку-мікроцефалії-розладів мовлення-аномалій очей","synonyms":["Синдром, повязаний з ARPC4"]}},"xrefs":[{"source":"OMIM","code":"620141","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0859324","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"859324","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925075","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":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"ARPC4","name":"actin related protein 2/3 complex subunit 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35047857[PMID]","hgnc":"707","ensembl":"ENSG00000241553","omim":"604226","loci":["3p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}