{"orpha":52055,"name":"Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Graham-Cox syndrome"],"definition":"Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-52055/","orphanet_url":"https://www.orpha.net/en/disease/detail/52055","names":{"fr":{"name":"Syndrome d'agénésie du corps calleux-déficience intellectuelle-colobome-micrognathie","synonyms":["Syndrome de Graham-Cox"],"definition":"Le syndrome d'agénésie du corps calleux-déficience intellectuelle-colobome-micrognathie est un syndrome d'anomalies développementales caractérisé par un colobome de l'iris et du nerf optique, une dysmorphie faciale (un front haut, une microrétrognathie, des oreilles basses), une déficience intellectuelle, une agénésie du corps calleux (ACC), une perte de l'audition sensorineurale, des anomalies squelettiques et une petite taille."},"de":{"name":"Corpus-callosum-Agenesie-Intelligenzminderung-Kolobom-Mikrognathie-Syndrom","synonyms":["Graham-Cox-Syndrom"]},"es":{"name":"Síndrome de agenesia del cuerpo calloso-discapacidad intelectual-coloboma-micrognatia","synonyms":["Síndrome de Graham-Cox"],"definition":"Es un síndrome de anomalías del desarrollo caracterizado por coloboma del iris y del nervio óptico, dismorfia facial (frente alta, microretrognatia, orejas de implantación baja), déficit intelectual, agenesia del cuerpo calloso (ACC ), hipoacusia neurosensorial, anomalías esqueléticas y talla baja."},"it":{"name":"Sindrome agenesia del corpo calloso-disabilità cognitiva-coloboma-micrognatia","synonyms":["Sindrome di Graham-Cox"]},"nl":{"name":"Agenesie van corpus callosum - intellectuele achterstand - coloboom - micrognathie-syndroom","synonyms":["Syndroom van Graham-Cox"],"definition":"Agenesie van het corpus callosum - intellectuele achterstand - coloboom - micrognathie is een syndroom van ontwikkelingsafwijkingen dat gekenmerkt wordt door coloboom van de iris en oogzenuw, faciale dysmorfie, intellectuele achterstand, agenesie van het corpus callosum (ACC), sensorineuraal gehoorverlies, skeletale afwijkingen en kleine gestalte."},"pt":{"name":"Síndrome de agenesia do corpo caloso-perturbação do desenvolvimento intelectual-coloboma-micrognatia","synonyms":["Deficiência SLC6A8","Síndrome Graham-Cox"]},"pl":{"name":"Zespół agnezji ciała modzelowatego, niepełnosprawności intelektualnej, coloboma i mikrognacji","synonyms":["Zespół Grahama i Coxa"]},"cs":{"name":"Syndrom zahrnující agenezi corpus callosum, mentální retardaci, kolobom a mikrognatii","synonyms":["Grahamův-Coxův syndrom","Graham-Coxův syndrom"]},"uk":{"name":"Синдром агенезії мозолистого тіла-інтелектуальної недостатності-колобоми-мікрогнатії","synonyms":["Синдром Грехема-Кокса"],"definition":"Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature."},"zh":{"name":"胼胝体发育不全-智力障碍-眼底缺损-小颌畸形综合征","synonyms":["Graham-Cox综合征"]},"tr":{"name":"Korpus kallozum agenezi-zihinsel yetersizlik-kolobom-mikrognati sendromu","synonyms":["Graham-Cox sendromu"]}},"xrefs":[{"source":"OMIM","code":"300472","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010333","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302679","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12486","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519276,"name":"Anterior segment developmental anomaly with extraocular manifestations","classifications":[147,156,189]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":519345,"name":"Rare disorder with optic disc malformation","classifications":[147,156,189]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"IGBP1","name":"immunoglobulin binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14556245[PMID]","hgnc":"5461","ensembl":"ENSG00000089289","omim":"300139","loci":["Xq13.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"14556245[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_14556245[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"14556245[PMID]","terms":[{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null}]}}