{"orpha":220493,"name":"Joubert syndrome with ocular anomaly","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-220493/","orphanet_url":"https://www.orpha.net/en/disease/detail/220493","names":{"fr":{"name":"Syndrome de Joubert avec anomalie oculaire","definition":"Le syndrome de Joubert avec anomalie oculaire est, avec le syndrome de Joubert (SJ) pur, la plus fréquente des maladies associées au SJ (SJMA) et se caractérise par l'association des signes neurologiques du SJ à une dystrophie rétinienne."},"de":{"name":"Joubert-Syndrom mit Augenanomalie","definition":"Das Joubert-Syndrom (JS) mit Augendefekt ist mit dem reinen JS der häufigste Untertyp des Joubert-Syndroms und verwandter Krankheiten (JSRD; s. dort) und gekennzeichnet durch die neurologischen Symptome des JS in Assoziation mit Netzhautdystrophie."},"es":{"name":"Síndrome de Joubert con anomalía ocular","definition":"El síndrome de Joubert (SJ) con defecto ocular es, junto con el SJ puro, el subtipo más frecuente del síndrome de Joubert y trastornos relacionados (JSRD, consulte este término), y se caracteriza por los rasgos neurológicos del JS asociados a una distrofia retiniana."},"it":{"name":"Sindrome di Joubert associata a difetto oculare","definition":"La sindrome di Joubert (JS) con difetto oculare è, insieme alla JS pura, il sottogruppo più frequente della sindrome di Joubert e dei disturbi correlati (JSRD; si veda questo termine); è caratterizzato dai segni neurologici della JS associati alla distrofia retinica."},"nl":{"name":"Syndroom van Joubert met oculaire anomalie","definition":"Syndroom van Joubert met oogafwijkingen is, samen met pure JS, het meest voorkomende subtype van syndroom van Joubert en aanverwante aandoeningen (JSRD, zie deze term), gekenmerkt door de neurologische kenmerken van JS in combinatie met netvliesdystrofie."},"pt":{"name":"Síndrome de Joubert com retinopatia","definition":"A síndrome de Joubert com deficiência ocular é, juntamente com a JS pura, o subtipo mais frequente da síndrome de Joubert e doenças relacionadas (JSRD, consulte este termo) caracterizada pelas manifestações neurológicas da JS associadas a distrofia retiniana."},"pl":{"name":"Zespół Joubert z wadą narządu wzroku","synonyms":["JS-O","Zespół Joubert z retinopatią"]},"cs":{"name":"Joubertův syndrom s poruchami vývoje očí","synonyms":["JS-O","Joubertův syndrom s retinopatií"]},"uk":{"name":"Синдром Жубера з ураженням ока","synonyms":["Синдром Жубера з ретинопатією","JS-O"],"definition":"Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy."},"zh":{"name":"Joubert综合征伴眼缺陷","synonyms":["Joubert综合征伴视网膜病"],"definition":"Joubert综合征伴眼缺陷和单纯型JS是Joubert综合征及其相关疾病（JSRD，见这些词条）最常见的亚型，其特征是与视网膜营养不良相关的JS神经表现。"},"tr":{"name":"Oküler defekt ile seyreden Joubert sendromu","synonyms":["JS-O","Retinopatili Joubert sendromu"]}},"xrefs":[{"source":"OMIM","code":"608629","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614424","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614464","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614970","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617121","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1358617785"},{"source":"MONDO","code":"0016364","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274118","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10168","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":140874,"name":"Joubert syndrome","classifications":[147,156,181,189]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":156165,"name":"Retinal ciliopathy","classifications":[156]}],"children":[],"genes":[{"symbol":"CEP41","name":"centrosomal protein 41","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301500[PMID]_22246503[PMID]","hgnc":"12370","ensembl":"ENSG00000106477","omim":"610523","loci":["7q32.2"]},{"symbol":"AHI1","name":"Abelson helper integration site 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20615230[PMID]_20301500[PMID]","hgnc":"21575","ensembl":"ENSG00000135541","omim":"608894","loci":["6q23.3"]},{"symbol":"CEP120","name":"centrosomal protein 120","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27208211[PMID]","hgnc":"26690","ensembl":"ENSG00000168944","omim":"613446","loci":["5q23.2"]},{"symbol":"INPP5E","name":"inositol polyphosphate-5-phosphatase E","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23386033[PMID]_19668216[PMID]_20301500[PMID]","hgnc":"21474","ensembl":"ENSG00000148384","omim":"613037","loci":["9q34.3"]},{"symbol":"MKS1","name":"MKS transition zone complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24886560[PMID]","hgnc":"7121","ensembl":"ENSG00000011143","omim":"609883","loci":["17q22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002419","label":"Molar tooth sign on MRI","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000657","label":"Oculomotor apraxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004422","label":"Biparietal narrowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000864","label":"Abnormality of the hypothalamus-pituitary axis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001651","label":"Dextrocardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000480","label":"Retinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null}]}}