{"orpha":2526,"name":"Microcephaly-chorioretinopathy-lymphedema syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2526/","orphanet_url":"https://www.orpha.net/en/disease/detail/2526","names":{"fr":{"name":"Syndrome de microcéphalie-choriorétinopathie-lymphoedème","definition":"Le syndrome de microcephalie-lymphoedème-choriorétinopathie (MLCRD) est une maladie rare autosomique dominante caractérisée par l'expression variable d'une microcéphalie, de troubles oculaires incluant une chororétinopathie, d'un lymphoedème congénital des membres inférieurs et d'un déficit intellectuel léger à modéré."},"de":{"name":"Mikrozephalie-Chorioretinopathie-Lymphödem-Syndrom","synonyms":["MCLMR-Syndrom"],"definition":"Mikrozephalie mit oder ohne Chorioretinopathie, Lymphödem oder intellektueller Beeinträchtigung (MCLID) ist eine seltene autosomal-dominante Erkrankung, die durch eine variable Expression von Mikrozephalie, Augenerkrankungen einschließlich Chorioretinopathie, kongenitale Lymphödeme der unteren Gliedmaßen und leichte bis mittlere Intelligenzminderung gekennzeichnet ist."},"es":{"name":"Síndrome de microcefalia-coriorretinopatía-linfedema","definition":"La microcefalia con o sin coriorretinopatía, linfedema o discapacidad intelectual (MCLID) es una afección autosómica dominante poco frecuente que se caracteriza por una expresión variable de microcefalia, trastornos oculares que incluyen coriorretinopatía, linfedema congénito de las extremidades inferiores y discapacidad intelectual de leve a moderada."},"it":{"name":"Sindrome microcefalia-corioretinopatia-linfedema"},"nl":{"name":"Microcefalie - chorioretinopathie - lymfoedeem-syndroom","synonyms":["MLCRD"],"definition":"Microcefalie met of zonder chorioretinopathie, lymfoedeem of verstandelijke handicap (MCLID) is een zeldzame, autosomaal dominante aandoening die gekenmerkt wordt door een variabele expressie van microcefalie, oogaandoeningen waaronder chorioretinopathie, aangeboren lymfoedeem van de onderste ledematen en een milde tot matige verstandelijke beperking."},"pt":{"name":"Síndrome de microcefalia-linfedema-coriorretinopatia","synonyms":["MLCRD"]},"pl":{"name":"Zespół małogłowia, obrzęku limfatycznego i chorioretinopatii","synonyms":["MLCRD"]},"cs":{"name":"Syndrom zahrnující mikrocefalii, lymfedém a chorioretinopatii","synonyms":["MLCRD"]},"uk":{"name":"Синдром мікроцефалії-лімфедеми-хоріоретинопатії","synonyms":["MLCRD"],"definition":"Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability."},"zh":{"name":"小头畸形-淋巴水肿-脉络膜视网膜病变综合征","synonyms":["MLCRD"]},"tr":{"name":"Mikrosefali-lenfödem-korioretinopati sendromu","synonyms":["MLCRD"]}},"xrefs":[{"source":"OMIM","code":"152950","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BD93.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1127849024"},{"source":"MONDO","code":"0007918","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537711","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835265","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3622","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1432,"name":"Autosomal dominant chorioretinopathy-microcephaly syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2416,"name":"Congenital primary lymphedema without systemic or visceral involvement","classifications":[147,156,187,198]},{"orpha":716342,"name":"Rare disorder with progressive predominantly chorioretinal disorder as a major feature","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"KIF11","name":"kinesin family member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22284827[PMID]","hgnc":"6388","ensembl":"ENSG00000138160","omim":"148760","loci":["10q23.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19076985[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-19","source":null,"terms":[{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Frequent 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