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37555112, "end": 37571052, "strand": "+", "slug": "cdc42ep1" } ], "truncated": false }, "reports": [ { "slug": "dystonia-myotonia-paroxysmal-dyskinesia", "name": "Dystoni, myotoni, paroxysmal dyskinesi", "diseases": [ { "mondoId": "MONDO:0044807", "name": "Ärftlig dystoni", "genes": 34, "inheritance": null, "description": "Samlingsbegrepp för ärftliga dystonier, inklusive DYT-TOR1A, generaliserad dystoni med tidig debut, DYT-THAP1, myoklonus-dystoni (SGCE) och KMT2B-relaterad dystoni.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/dystonia-myotonia-paroxysmal-dyskinesia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/depression" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "blepharospasm", "name": "Eyelid spasm", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/blepharospasm" }, { "slug": "dysphonia", "name": "Inability to produce voice sounds", "systems": [ "abnormality-of-the-voice" ], "url": "https://dantelabs.com/traits/dysphonia" }, { "slug": "myoclonus", "name": 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"systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/personality-disorder" }, { "slug": "spinal-myoclonus", "name": "Spinal myoclonus", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/spinal-myoclonus" }, { "slug": "writer-s-cramp", "name": "Writer's cramp", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/writer-s-cramp" }, { "slug": "torticollis", "name": "Wry neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/torticollis" } ], "related": [ { "slug": "actb", "symbol": "ACTB", "name": "actin beta", "shared": 1, "url": "https://dantelabs.com/sv/genes/actb" }, { "slug": "ano3", "symbol": "ANO3", "name": "anoctamin 3", "shared": 1, "url": 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