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81 results
  1. STRC-Related Autosomal Recessive Hearing Loss - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK598310
    ... mimic (HL is congenital w/later onset of retinitis pigmentosa in adolescence or early adulthood). Usher syndrome type ...
  2. WARS2 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK595820
    ... involvement can include optic nerve atrophy, visual impairment, retinitis pigmentosa, strabismus, nystagmus, and amblyopia [ Bowling et al 2017 , ...
  3. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Mennonite ... 
    https://www.ncbi.nlm.nih.gov/books/NBK592267
    ... et al [2019] FLVCR1 Posterior column ataxia with retinitis pigmentosa (OMIM 609033 ) AR c.361A>G p.Asn121Asp ~ ...
  4. SLC39A8-CDG - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590152
    ... 612674 ) Cerebellar atrophy Ataxia Cataracts Hearing loss Neurodegeneration Retinitis pigmentosa ALDH18A1 Delta-1-pyrroline-5-carboxylate synthetase deficiency ...
  5. RNU4atac-opathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK589232
    ... TA, Hayden MR. Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa. Am J Med Genet. 1989; 33 :341–5. [ ...
  6. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Māori ... 
    https://www.ncbi.nlm.nih.gov/books/NBK588573
    ... NP_004637 ​.1 Wong et al [2013] PDE6B Retinitis pigmentosa 40 (OMIM 613801 ) AR c.2197G>C p. ...
  7. MYRF-Related Cardiac Urogenital Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK586169
    ... gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. Mol Vis. 2009; 15 :1794–8. [ PMC ...
  8. Sandhoff Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK579484
    ... Progressive visual loss (onset age 4-5 yrs), retinitis pigmentosa, cataracts, myoclonus, parkinsonism, & abnormal ERG CTSA Galactosialidosis (OMIM ...
  9. RFC1 CANVAS / Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK564656
    ... MOI = mode of inheritance; NARP = neuropathy, ataxia, and retinitis pigmentosa; PEO = progressive external ophthalmoplegia; SANDO = sensory ataxic neuropathy, ...
  10. Selecting and Defining Outcome Measures for Registries - Registries for Evaluating Patient Outcomes: A User’s Guide - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK562576
    ... systems for halting disease progression in patients with retinitis pigmentosa reported 74 different outcome measures used in 11 ...
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