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[ { "slug": "hearing-loss-and-deafness", "name": "Hörselnedsättning och dövhet", "diseases": [ { "mondoId": "MONDO:0019497", "name": "Icke-syndromisk ärftlig hörselnedsättning", "genes": 97, "inheritance": null, "description": "Ärftlig hörselnedsättning utan andra medicinska symtom, inklusive de vanliga recessiva formerna orsakade av GJB2, OTOF, SLC26A4, STRC och många andra gener, samt dominanta, X-kopplade och mitokondriella former.", "management": "Att känna till den genetiska orsaken kan vägleda hörselstöd och beslut om cochleaimplantat, behörighet till studier med genterapi (till exempel OTOF) och familjerådgivning.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 10 }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/sv/conditions/hearing-loss-and-deafness" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "color-vision-defect", "name": "Abnormal color vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/color-vision-defect" }, { "slug": "abnormal-electroretinogram", "name": "Abnormal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-electroretinogram" }, { "slug": "abnormal-vestibular-function", "name": "Abnormal vestibular function", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormal-vestibular-function" }, { "slug": "gait-imbalance", "name": "Abnormality of balance", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gait-imbalance" }, { "slug": "abnormality-of-the-inner-ear", "name": "Abnormality of the inner ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-inner-ear" }, { "slug": "anxiety", "name": "Anxiety", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anxiety" }, { "slug": "scotoma", "name": "Blind spot", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/scotoma" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/myopia" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "congenital-sensorineural-hearing-impairment", "name": "Congenital sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/congenital-sensorineural-hearing-impairment" }, { "slug": 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