{"orpha":363741,"name":"Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363741/","orphanet_url":"https://www.orpha.net/en/disease/detail/363741","names":{"fr":{"name":"Syndrome de microphtalmie colobomateuse-obésité-hypogénitalisme-déficience intellectuelle","definition":"Microphtalmie syndromique rare d'origine génétique caractérisée par une microphtalmie bilatérale, généralement asymétrique, associée à un colobome unilatéral, une obésité du tronc, une déficience intellectuelle limite à légère, un hypogénitalisme et, de manière plus inconstante, à un nystagmus, une cataracte et un retard de développement."},"de":{"name":"Kolobomatöse Mikrophthalmie-Adipositas-Hypogenitalismus-Intelligenzminderung-Syndrom"},"es":{"name":"Síndrome de microftalmia colobomatosa-obesidad-hipogenitalismo-discapacidad intelectual","definition":"Es un trastorno sindrómico de microftalmia, genético y poco frecuente, caracterizado por microftalmia bilateral, generalmente asimétrica, asociada normalmente a coloboma unilateral, obesidad troncal, discapacidad intelectual de límite a leve, hipogenitalismo y, de forma variable, nistagmo, cataratas y retraso del desarrollo."},"it":{"name":"Sindrome microftalmia colobomatosa-obesità -ipogenitalismo-disabilità intellettiva","definition":"La sindrome che associa la microftalmia colobomatosa, l'obesità, l'ipogenitalismo e la disabilità intellettiva è una microftalmia sindromica genetica rara, caratterizzata da microftalmia bilaterale, di solito asimmetrica, in genere associata a coloboma monolaterale, obesità del tronco, disabilità intellettiva borderline-lieve, ipogenitalismo e, occasionalmente variabile, nistagmo, cataratta e ritardo dello sviluppo."},"nl":{"name":"Colobomateuze microftalmie - obesitas - hypogenitalisme - intellectuele achterstand-syndroom","definition":"Colobomateuze microftalmie - obesitas - hypogenitalisme - intellectuele achterstand-syndroom is een zeldzame, genetische, syndromale microftalmie die gekarakteriseerd wordt door bilaterale, meestal asymmetrische, microftalmie, typisch geassocieerd met een unilateraal coloboom, truncale obesitas, marginale tot milde intellectuele achterstand, hypogenitalisme en, meer variabel, nystagmus, cataracten en ontwikkelingsachterstand."},"pt":{"name":"Síndrome de microftlamia colobomatosa-obesidade-hipogenitalismo-perturbação do desenvolvimento intelectual"},"pl":{"name":"Zespół rozszczep oka-otyłość-hipogenitalizm-niepełnosprawność intelektualna"},"cs":{"name":"Syndrom zahrnující kolobomatózní mikroftalmii, obezitu, hypogenitalismus a mentální retardaci"},"uk":{"name":"Синдром колобоматозної мікрофтальмії-ожиріння-гіпогеніталізму-інтелектуальної недостатності","definition":"A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay."},"zh":{"name":"疣状小眼畸形-肥胖-性欲低下-智力障碍综合征","definition":"眼缺损性小眼畸形-肥胖-生殖腺发育不全-智力障碍综合征是一种罕见的遗传性小眼病，其特征是双侧的常常不对称的小眼球，常伴有单侧缺损、躯干肥胖症、边缘轻度智力障碍、生殖功能低下，以及更不稳定的眼球震颤、白内障和发育迟缓。"},"tr":{"name":"Kolobomatöz mikroftalmi-obezite-hipogenitalizm-zihinsel yetersizlik sendromu"}},"xrefs":[{"source":"OMIM","code":"601794","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011145","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755253","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":240371,"name":"Syndromic obesity","classifications":[147,156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"9098485[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-11","source":"9098485[PMID]","terms":[{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000480","label":"Retinal coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Occasional (29-5%)","criteria":null}]}}