{"orpha":329206,"name":"OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome","type":"Disease","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":["OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-intellectual disability due to POMT1 syndrome"],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Congenital muscular dystrophy due to dystroglycanopathy","url":"https://raremap.alftech.space/d/ORPHA-329206/","orphanet_url":"https://www.orpha.net/en/disease/detail/329206","names":{"fr":{"name":"OBSOLETE : Syndrome de dystrophie musculaire congénitale-hypertrophie musculaire-déficience intellectuelle sévre","synonyms":["OBSOLETE : Dystrophie musculaire congénitale-hypertrophie musculaire-déficience intellectuelle par déficit en POMT1"]},"de":{"name":"OBSOLET: Kongenitale Muskeldystrophie-Muskelypertrophie-Schwere Intelligenzminderung-Syndrom"},"es":{"name":"OBSOLETO: Síndrome congénito de distrofia muscular-hipertrofia muscular-discapacidad intelectual grave","synonyms":["OBSOLETO: Síndrome congénito de distrofia muscular-hipertrofia muscular-discapacidad intelectual asociada a POMT1"]},"it":{"name":"OBSOLETO: Sindrome distrofia muscolare congenita-ipertrofia muscolare-deficit cognitivo grave","synonyms":["OBSOLETO: Sindrome distrofia muscolare congenita-ipertrofia muscolare-deficit cognitivo da POMT1"]},"nl":{"name":"OBSOLEET: Congenitale spierdystrofie - spierhypertrofie - ernstige intellectuele achterstand-syndroom","synonyms":["OBSOLEET: Congenitale spierdystrofie - spierhypertrofie - intellectuele achterstand door POMT1-syndroom"]},"pt":{"name":"OBSOLETO: Síndrome de distrofia muscular congénita-hipertrofia muscular-perturbação do desenvolvimento intelectual grave"},"pl":{"name":"NIEAKTUALNE: Wrodzona dystrofia miesniowa - przerost miesni - ciezka niepelnosprawnosc intelektualna","synonyms":["NIEAKTUALNE: Wrodzona dystrofia mięśniowa - przerost mięśni - niepełnosprawność intelektualna spowodowana POMT1"]},"cs":{"name":"NEAKTUÁLNÍ: Syndrom vrozené svalové dystrofie a svalové hypertrofie s těžkým mentálním postižením","synonyms":["OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-intellectual disability due to POMT1 syndrome"]},"uk":{"name":"Синдром вродженої мязової дистрофії-гіпертрофії мязів-тяжкої розумової відсталості","synonyms":["ЗАСТАРІЛО: Вроджена мязова дистрофія - гіпертрофія мязів - розумова відсталість внаслідок синдрому POMT1"]},"zh":{"name":"先天性肌营养不良-肌肉肥大-重度智障综合征","synonyms":["POMT1所致先天性肌营养不良-肌肉肥大-重度智障综合征"]},"tr":{"name":"Eski adı: Doğumsal kas distrofisi-kas hipertrofisi-ağır zihinsel yetersizlik sendromu","synonyms":["Doğumsal kas distrofisi-kas hipertrofisi-POMT1 sendromuna bağlı zihinsel yetersizlik"]}},"xrefs":[],"associations":[{"type":"Referred to","orpha":370953,"name":"Congenital muscular dystrophy due to dystroglycanopathy"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}