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"Skeletal muscle disorders caused by variants in TTN, which encodes the muscle protein titin, with onset from birth to adulthood.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0018947", "name": "Centronuclear myopathy (including X-linked myotubular myopathy)", "genes": 5, "inheritance": null, "description": "Congenital myopathies with centrally placed nuclei in muscle fibers, caused by MTM1, DNM2, BIN1 and other genes; the X-linked myotubular form (MTM1) is often severe in boys.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/hu/conditions/congenital-myopathies" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-facial-shape", "name": "Abnormal facial shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-facial-shape" }, { "slug": "abnormal-heart-valve-morphology", "name": "Abnormal heart valve morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-heart-valve-morphology" }, { "slug": "areflexia", "name": "Absent reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/areflexia" }, { "slug": "axial-muscle-weakness", "name": "Axial muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/axial-muscle-weakness" }, { "slug": "facial-palsy", "name": "Bell's palsy", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/facial-palsy" }, { "slug": "bifid-uvula", "name": "Bifid uvula", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bifid-uvula" }, { "slug": "centrally-nucleated-skeletal-muscle-fibers", "name": "Centrally nucleated skeletal muscle fibers", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/centrally-nucleated-skeletal-muscle-fibers" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "difficulty-running", "name": "Difficulty running", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/difficulty-running" }, { "slug": "difficulty-climbing-stairs", "name": "Difficulty walking up stairs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/difficulty-climbing-stairs" }, { "slug": "generalized-amyotrophy", "name": "Diffuse skeletal muscle wasting", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-amyotrophy" }, { "slug": "emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation", "name": "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/emg-decremental-response-of-compound-muscle-action-potential-to-repetitive-nerve-stimulation" }, { "slug": "ophthalmoplegia", "name": "Eye muscle paralysis", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ophthalmoplegia" }, { "slug": "facial-diplegia", "name": "Facial diplegia", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/facial-diplegia" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ 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"frequency": "occasional", "url": "https://dantelabs.com/traits/dysphonia" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "left-ventricular-hypertrophy", "name": "Left ventricular hypertrophy", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/left-ventricular-hypertrophy" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "long-face", "name": "Long face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-face" }, { "slug": "long-fingers", "name": "Long fingers", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-fingers" }, { "slug": "axial-hypotonia", "name": "Low muscle tone in trunk", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/axial-hypotonia" }, { "slug": "mitral-regurgitation", "name": "Mitral regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mitral-regurgitation" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "narrow-mouth", "name": "Narrow mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/narrow-mouth" }, { "slug": "progressive-muscle-weakness", "name": "Progressive muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-muscle-weakness" }, { "slug": "protruding-ear", "name": "Prominent ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/protruding-ear" }, { "slug": "hyperlordosis", "name": "Prominent swayback", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperlordosis" }, { "slug": "proximal-muscle-weakness", "name": "Proximal neurogenic muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/proximal-muscle-weakness" }, { "slug": "retrognathia", "name": "Receding chin", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retrognathia" }, { "slug": "respiratory-insufficiency", "name": "Respiratory function loss", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/respiratory-insufficiency" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "slug": "type-1-muscle-fiber-predominance", "name": "Type 1 muscle fiber predominance", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/type-1-muscle-fiber-predominance" }, { "slug": "waddling-gait", "name": "Waddling gait", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/waddling-gait" }, { "slug": "weakness-of-facial-musculature", "name": "Weakness of facial musculature", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/weakness-of-facial-musculature" }, { "slug": "ophthalmoparesis", "name": "Weakness of muscles controlling eye movement", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ophthalmoparesis" }, { "slug": "scapular-winging", "name": "Winged shoulder blade", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scapular-winging" } ], "related": [ { "slug": "bin1", "symbol": "BIN1", "name": "bridging integrator 1", "shared": 2, "url": "https://dantelabs.com/hu/genes/bin1" }, { "slug": "dnm2", "symbol": "DNM2", "name": "dynamin 2", "shared": 1, "url": "https://dantelabs.com/hu/genes/dnm2" }, { "slug": "map3k20", "symbol": "MAP3K20", "name": "mitogen-activated protein kinase kinase kinase 20", "shared": 1, "url": "https://dantelabs.com/hu/genes/map3k20" }, { "slug": "mtm1", "symbol": "MTM1", "name": "myotubularin 1", "shared": 1, "url": "https://dantelabs.com/hu/genes/mtm1" }, { "slug": "ttn", "symbol": "TTN", "name": "titin", "shared": 1, "url": "https://dantelabs.com/hu/genes/ttn" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }