{"orpha":2510,"name":"Micro syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["WARBM","Warburg micro syndrome"],"definition":"A rare neurodevelopmental disorder characterized by severe intellectual disability, progressive spasticity, postnatal microcephaly, and ocular abnormalities, including congenital cataracts, microphthalmia, and optic atrophy. Other frequent findings are hypothalamic hypogonadism and brain malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2510/","orphanet_url":"https://www.orpha.net/en/disease/detail/2510","names":{"fr":{"name":"Syndrome micro","synonyms":["Syndrome micro-Warburg","WARBM"],"definition":"Trouble du développement neurologique rare caractérisé par une déficience intellectuelle sévère, une spasticité progressive, une microcéphalie postnatale et des anomalies oculaires, notamment des cataractes congénitales, une microphtalmie et une atrophie optique. Par ailleurs, un hypogonadisme hypothalamique et des malformations cérébrales sont fréquemment observés."},"de":{"name":"Mikro-Syndrom","synonyms":["WARBM","Warburg-Mikro-Syndrom"],"definition":"Eine seltene neurologische Entwicklungsstörung, die durch schwere Intelligenzminderung, progressive Spastik, postnatale Mikrozephalie und Augenanomalien, einschließlich angeborener Katarakte, Mikrophthalmie und Optikusatrophie, gekennzeichnet ist. Weitere häufige Befunde sind hypothalamischer Hypogonadismus und Fehlbildungen des Gehirns."},"es":{"name":"Síndrome Micro","definition":"Es un trastorno poco frecuente del neurodesarrollo caracterizado por discapacidad intelectual grave, espasticidad progresiva, microcefalia posnatal y anomalías oculares, como cataratas congénitas, microftalmia y atrofia óptica. Otros hallazgos frecuentes son el hipogonadismo hipotalámico y las malformaciones cerebrales."},"it":{"name":"Sindrome Micro","synonyms":["Sindrome di Warburg-Sjo-Fledelius"]},"nl":{"name":"Microsyndroom","synonyms":["WARBM1","Warburg-microsyndroom"],"definition":"Een zeldzame neurologische ontwikkelingsstoornis, gekenmerkt door ernstige intellectuele achterstand, progressieve spasticiteit, postnatale microcefalie, en oogafwijkingen, waaronder congenitaal cataract, microftalmie, en opticusatrofie. Overige frequente bevindingen zijn hypothalamisch hypogonadisme en hersenmalformaties."},"pt":{"name":"Síndrome Micro","synonyms":["Síndrome Warburg-Sjo-Fledelius"]},"pl":{"name":"Zespół micro","synonyms":["WARBM1","Zespół Warburg Micro"],"definition":"Rzadkie zaburzenie neurorozwojowe charakteryzujące się ciężką niepełnosprawnością intelektualną, postępującą spastycznością, małogłowiem poporodowym i nieprawidłowościami ocznymi, w tym wrodzoną zaćmą, małooczem i zanikiem nerwu wzrokowego. Inne często występujące cechy to hipogonadyzm podwzgórzowy i wady mózgu."},"cs":{"name":"Mikro syndrom","synonyms":["WARBM","Warburgův mikro syndrom"]},"uk":{"name":"Мікро синдром","synonyms":["WARBM","Мікросиндром Варбурга"],"definition":"Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism."},"zh":{"name":"Micro综合征","synonyms":["Warburg micro综合征"]},"tr":{"name":"Mikro sendrom","synonyms":["WARBM","Warburg mikro sendromu"]}},"xrefs":[{"source":"OMIM","code":"600118","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"614222","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614225","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615663","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1843090232"},{"source":"MONDO","code":"0016649","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5442005","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5534","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2895,"name":"Pinsky-Di George-Harley syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":102010,"name":"Other syndrome with lissencephaly as a major feature","classifications":[147,156,181]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"RAB18","name":"RAB18, member RAS oncogene family","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23420520[PMID]","hgnc":"14244","ensembl":"ENSG00000099246","omim":"602207","loci":["10p12.1"]},{"symbol":"RAB3GAP1","name":"RAB3 GTPase activating protein catalytic subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23420520[PMID]","hgnc":"17063","ensembl":"ENSG00000115839","omim":"602536","loci":["2q21.3"]},{"symbol":"RAB3GAP2","name":"RAB3 GTPase activating non-catalytic protein subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23420520[PMID]","hgnc":"17168","ensembl":"ENSG00000118873","omim":"609275","loci":["1q41"]},{"symbol":"TBC1D20","name":"TBC1 domain family member 20","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24239381[PMID]","hgnc":"16133","ensembl":"ENSG00000125875","omim":"611663","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":203.0,"area":"Worldwide","status":"Validated","source":"23420520[PMID]_24239381[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000060","label":"Clitoral hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000064","label":"Hypoplastic labia minora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000480","label":"Retinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}