{"orpha":324604,"name":"Classic multiminicore myopathy","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Classic MmD","Classic multiminicore disease"],"definition":null,"note":"This disease is described under Multiminicore myopathy","url":"https://raremap.alftech.space/d/ORPHA-324604/","orphanet_url":"https://www.orpha.net/en/disease/detail/324604","names":{"fr":{"name":"Myopathie à multi-minicores classique","synonyms":["MmD classique"]},"de":{"name":"Multiminicore-Myopathie, klassische","synonyms":["Klassische MmD","Klassische Multiminicore-Krankheit"]},"es":{"name":"Miopatía multiminicore clásica","synonyms":["Enfermedad multiminicore clásica","MmD clásica"]},"it":{"name":"Miopatia multiminicore classica","synonyms":["Malattia multiminicore classica","MmD classica"]},"nl":{"name":"Klassieke multi-minicore myopathie","synonyms":["Klassieke MmD","Klassieke multi-minicore ziekte"]},"pt":{"name":"Miopatia multiminicore clássica","synonyms":["Doença multiminicore clássica","MmD clássica"]},"pl":{"name":"Klasyczna miopatia multiminicore","synonyms":["Klasyczna choroba multiminicore","Klasyczna MmD"]},"cs":{"name":"Klasická multiminicore myopatie","synonyms":["Klasická MmD","Klasická multiminicore nemoc"]},"uk":{"name":"Класична мультимінікорова міопатія","synonyms":["Класичний MmD","Класична багатоядерна хвороба"]},"zh":{"name":"经典型多发性肌病","synonyms":["经典型多微小轴空病"]},"tr":{"name":"Klasik multiminikor miyopati","synonyms":["Klasik MmD","Klasik multiminicore hastalığı"]}},"xrefs":[{"source":"OMIM","code":"602771","qualifier":"NTBT","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},{"source":"MONDO","code":"0017939","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679883","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13661","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]}],"children":[],"genes":[{"symbol":"TTN","name":"titin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) 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frequent (99-80%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003327","label":"Axial muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003700","label":"Generalized amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009058","label":"Increased muscle lipid content","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004889","label":"Intermittent episodes of respiratory insufficiency due to muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005991","label":"Limited neck flexion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100295","label":"Muscle fiber atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002877","label":"Nocturnal hypoventilation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002091","label":"Restrictive ventilatory defect","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001708","label":"Right ventricular failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001667","label":"Right ventricular hypertrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030091","label":"Absent muscle fiber merosin","frequency":"Excluded (0%)","criteria":null}]}}