{"orpha":1875,"name":"Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bassoe syndrome"],"definition":"Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1875/","orphanet_url":"https://www.orpha.net/en/disease/detail/1875","names":{"fr":{"name":"Syndrome de dystrophie musculaire congénitale-cataracte infantile-hypogonadisme","synonyms":["Syndrome de Bassoe"],"definition":"Syndrome de dystrophie musculaire congénitale-cataracte infantile-hypogonadisme est caractérisé par une dystrophie musculaire congénitale, une cataracte infantile et un hypogonadisme. Il a été décrit chez sept personnes provenant d'un village norvégien isolé et dans un cas isolé. La transmission est autosomique récessive."},"de":{"name":"Kongenitale Muskeldystrophie-infantile Katarakt-Hyogonadismus-Syndrom","synonyms":["Bassoe-Syndrom"],"definition":"Dieses Syndrom ist gekennzeichnet durch kongenitale Muskeldystrophie, infantile Katarkt und Hypogonadismus. Es wurde bei 7 Personen aus einer isolierten norwegischen Kleinstadt und bei einer nicht mit diesen verwandten Person beschrieben. Das Syndrom scheint autosomal-rezessiv vererbt zu werden."},"es":{"name":"Síndrome de distrofia muscular congénita-catarata infantil-hipogonadismo","synonyms":["Síndrome de Bassoe"],"definition":"Es un síndrome caracterizado por distrofia muscular congénita, cataratas infantiles e hipogonadismo. Se ha descrito en siete individuos de una aldea noruega apartada y en un individuo no consanguíneo. La transmisión parece ser autosómica recesiva."},"it":{"name":"Distrofia muscolare congenita - cataratta infantile - ipogonadismo","synonyms":["Sindrome di Bassoe"]},"nl":{"name":"Congenitale spierdystrofie - infantiel cataract - hypogonadisme-syndroom","synonyms":["Syndroom van Bassoe"],"definition":"Een syndroom, gekenmerkt door congenitale spierdystrofie, infantiel cataract, en hypogonadisme. Congenitale spierdystrofie - infantiel cataract - hypogonadisme-syndroom werd beschreven bij zeven individuen uit een geïsoleerd Noors dorp en bij één niet-gerelateerd individu. Overerving lijkt autosomaal recessief te gebeuren."},"pt":{"name":"Síndrome de distrofia muscular congénita-catarata infantil-hipogonadismo","synonyms":["Síndrome Bassoe"]},"pl":{"name":"Wrodzona dystrofia mięśniowa - zaćma dziecięca - hipogonadyzm","synonyms":["Zespół Bassoe"]},"cs":{"name":"Syndrom zahrnující vrozenou svalovou dystrofii, infantilní katarakta a hypogonadismus","synonyms":["Bassoeův syndrom"]},"uk":{"name":"Синдром вродженої мязової дистрофії - дитячої катаракти - гіпогонадизму","synonyms":["Синдром Бассо"],"definition":"Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive."},"zh":{"name":"先天性肌营养不良-婴儿白内障-性腺机能减退综合征","synonyms":["Bassoe综合征"]},"tr":{"name":"Doğumsal kas distrofisi-infantil katarakt-hipogonadizm sendromu","synonyms":["Bassoe sendromu"]}},"xrefs":[{"source":"OMIM","code":"254000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1030350988"},{"source":"MONDO","code":"0009680","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537661","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931578","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"835","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":97242,"name":"Congenital muscular dystrophy","classifications":[156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_13385309[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"13385309[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000137","label":"Abnormality of the ovary","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Frequent (79-30%)","criteria":null}]}}