{"orpha":98905,"name":"Congenital multicore myopathy with external ophthalmoplegia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Multiminicore myopathy","url":"https://raremap.alftech.space/d/ORPHA-98905/","orphanet_url":"https://www.orpha.net/en/disease/detail/98905","names":{"fr":{"name":"Myopathie à multi-minicores avec ophtalmoplégie externe"},"de":{"name":"Minicore-Myopathie mit externer Ophtalmoplegie"},"es":{"name":"Miopatía congénita multicore con oftalmoplejía externa"},"it":{"name":"Miopatia multicore congenita con oftalmoplegia esterna"},"nl":{"name":"Congenitale meerkernige myopathie met externe oftalmoplegie"},"pt":{"name":"Miopatia multicore com oftalmoplegia externa, congénita"},"pl":{"name":"Wrodzona miopatia multicore z oftalmoplegią zewnętrzną"},"cs":{"name":"Vrozená mnohojaderná myopatie s vnější oftalmoplegií"},"uk":{"name":"Вроджена багатокамерна міопатія із зовнішньою офтальмоплегією"},"zh":{"name":"先天性多轴空肌病伴眼外肌麻痹"},"tr":{"name":"Eksternal oftalmopleji ile seyreden doğumsal çok çekirdekli miyopati"}},"xrefs":[{"source":"OMIM","code":"255320","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C72.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"1706863538"},{"source":"MONDO","code":"0009712","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564969","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850674","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10316","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":598,"name":"Multiminicore myopathy","classifications":[156,181]},{"orpha":98742,"name":"Neurological muscular channelopathy due to a genetic ryanodine receptor defect","classifications":[156,181]}],"children":[],"genes":[{"symbol":"RYR1","name":"ryanodine receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301467[PMID]_12719381[PMID]_16380615[PMID]","hgnc":"10483","ensembl":"ENSG00000196218","omim":"180901","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-05","source":"7299413[PMID]_9932958[PMID]_16380615[PMID]_18253926[PMID]_19734047[PMID]_20839240[PMID]_22407809[PMID]","terms":[{"hpo":"HP:0002795","label":"Abnormal respiratory system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011805","label":"Abnormal skeletal muscle morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000544","label":"External ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009025","label":"Increased connective tissue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003557","label":"Increased variability in muscle fiber diameter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031237","label":"Internally nucleated skeletal muscle fibers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100293","label":"Muscle fiber hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002058","label":"Myopathic facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011807","label":"Type 1 muscle fiber atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003803","label":"Type 1 muscle fiber predominance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009046","label":"Difficulty 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(29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040191","label":"Rectus femoris muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003547","label":"Shoulder girdle muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012036","label":"Sternocleidomastoid amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011399","label":"Tibialis atrophy","frequency":"Occasional (29-5%)","criteria":null}]}}