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Results 1 - 9 of 9 for Hearing "loss," autosomal dominant 83
  1. WFS1 gene 
    ... Kunst HP, Hoefsloot EH, Cruysberg JR, Cremers CW. Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. Mol ...
    https://medlineplus.gov/genetics/gene/wfs1 - Genetics
  2. Leukodystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Start Here ... Leukodystrophies ... National Institute of Neurological Disorders and Stroke ... Leukodystrophy refers to genetic diseases that predominantly ...
    https://www.ninds.nih.gov/.../disorders/leukodystrophy - External Health Links
  3. Leukodystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Specifics ... Leukodystrophies ... National Institute of Neurological Disorders and Stroke ... Leukodystrophy refers to genetic diseases that predominantly ...
    https://www.ninds.nih.gov/.../leukodystrophy#refsum-disease-adult - External Health Links
  4. Stickler syndrome 
    ... often, Stickler syndrome is inherited inherited in an autosomal dominant pattern, which means one copy of the altered ... ophthalmopathy Stickler dysplasia ... dysplasia, autosomal dominant Genetic Testing Registry: Marshall syndrome Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  5. Treacher Collins syndrome 
    ... TCOF1 or POLR1D gene, it is considered an autosomal dominant condition, which means one copy of the altered ... the disorder in their family. In the remaining autosomal dominant cases, a person with Treacher Collins syndrome inherits ...
    https://medlineplus.gov/genetics/condition/treacher-collins-syndrome - Genetics
  6. Physical Therapy for Facioscapulohumeral Muscular Dystrophy (FSHD) (FacioScapuloHumeral Muscular Dystrophy Society) - PDF  
    Muscular Dystrophy/Living With ... Muscular Dystrophy ... FacioScapuloHumeral Muscular Dystrophy Society ... PDF
    https://www.fshdsociety.org/.../FSH-Society-PT-for-FSHD-Brochure.pdf - External Health Links
  7. Kabuki syndrome 
    ... the KMT2D gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/kabuki-syndrome - Genetics
  8. Duane-radial ray syndrome 
    ... conditions. SALL4 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/duane-radial-ray-syndrome - Genetics
  9. TWNK gene 
    ... Suomalainen A, Spelbrink JN. Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics