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Results 1 - 7 of 7 for "Cone-rod" dystrophy hearing loss 1
  1. Retinitis pigmentosa 
    ... characterized by the combination of vision loss and hearing loss beginning early in life. ... of the retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  2. Usher syndrome 
    ... By middle age, most affected individuals have profound hearing loss. Vision loss ... genetic mutations resulting in type 1 Usher syndrome are more common among people of ...
    https://medlineplus.gov/genetics/condition/usher-syndrome - Genetics
  3. Neuropathy, ataxia, and retinitis pigmentosa 
    ... 1):16-22. doi: 10.1136/jnnp.63.1.16. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  4. TRNT1 deficiency 
    ... EM, Slusarski DC. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan 1;25(1):44-56. doi: 10.1093/hmg/ ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  5. Saul-Wilson syndrome 
    ... joints.Children with Saul-Wilson syndrome often have hearing loss, clouding of the lenses of the eyes (cataracts), or a blue tint to the whites of the eyes (blue sclerae). They may also have retinitis pigmentosa, in which breakdown of the light-sensitive layer ( ...
    https://medlineplus.gov/genetics/condition/saul-wilson-syndrome - Genetics
  6. Bardet-Biedl syndrome 
    ... Rare Disorders (NORD) ClinicalTrials.gov BARDET-BIEDL SYNDROME 1; BBS1 PubMed Ansley SJ, Badano JL, Blacque OE, ... Bardet-Biedl syndrome. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R65-71. doi: 10. ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  7. Refsum disease 
    ... weakness and wasting; poor balance and coordination (ataxia); hearing loss; and dry, scaly skin (ichthyosis). Additionally, some people ... disease Genetic Testing Registry: Phytanic acid storage disease Retinitis pigmentosa National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/genetics/condition/refsum-disease - Genetics