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Results 1 - 10 of 10 for Hearing "loss," autosomal dominant 84
  1. ACTG1 gene 
    ... in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). J Med Genet. 2003 Dec;40(12):879-84. doi: 10.1136/jmg.40.12.879. Citation ...
    https://medlineplus.gov/genetics/gene/actg1 - Genetics
  2. Muscular Dystrophy From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Muscular Dystrophy/Start Here ... Muscular Dystrophy ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Muscular dystrophy ( ...
    https://www.ninds.nih.gov/.../disorders/muscular-dystrophy - External Health Links
  3. Spondylocarpotarsal synostosis syndrome 
    ... 12):1746-1751. doi: 10.1038/ejhg.2016.84. Epub 2016 Jul 6. Citation on PubMed or Free ... synostosis syndrome: phenotypic homogeneity and genetic heterogeneity. ...
    https://medlineplus.gov/.../spondylocarpotarsal-synostosis-syndrome - Genetics
  4. Osteopetrosis 
    ... and the poor. Calcif Tissue Int. 2009 Jan;84(1):1-12. doi: 10.1007/s00223-008-9196-4. Epub 2008 Dec 12. Citation on PubMed Wang Z, Li X, Wang Y, Fu W, Liu Y, Zhang Z, Wang C. Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study. Front Endocrinol ( ...
    https://medlineplus.gov/genetics/condition/osteopetrosis - Genetics
  5. Stickler syndrome 
    ... TYPE I; STL1 MARSHALL SYNDROME; MRSHS OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; ... Stickler syndrome: a systematic review. Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. Citation ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  6. Progressive external ophthalmoplegia 
    ... progressive external ophthalmoplegia is usually inherited in an autosomal dominant pattern, which means one copy of the altered ... Registry: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Genetic Testing Registry: Progressive external ophthalmoplegia with ...
    https://medlineplus.gov/.../progressive-external-ophthalmoplegia - Genetics
  7. Spastic paraplegia type 7 
    ... spastic paraplegia type 7 is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Hereditary spastic paraplegia, paraplegin ... PubMed Atorino L, Silvestri L, Koppen ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics
  8. Recombinant 8 syndrome 
    ... 8 Recombinant 8 syndrome is inherited in an autosomal dominant pattern, which means one copy of the recombinant ...
    https://medlineplus.gov/genetics/condition/recombinant-8-syndrome - Genetics
  9. Branchio-oculo-facial syndrome 
    ... Branchio-oculo-facial syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../condition/branchio-oculo-facial-syndrome - Genetics
  10. Crouzon syndrome with acanthosis nigricans 
    ... nigricans. FGFR3 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/...rouzon-syndrome-with-acanthosis-nigricans - Genetics