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81 results
  1. Rhizomelic Chondrodysplasia Punctata Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1270
    ... Trp75Cys and ASD, intellectual disability, epilepsy, and cataracts. Retinitis pigmentosa and peripheral neuropathy. An individual with the PEX7 ... had developmental delays and poor growth in childhood; retinitis pigmentosa and peripheral neuropathy developed in adolescence [ Braverman et ...
  2. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Sephardic ... 
    https://www.ncbi.nlm.nih.gov/books/NBK588574
    ... 1 Nevo et al [2013] , Zlotogora [2015] CERKL Retinitis pigmentosa AR c.238+1G>A (IVS1+1G>A) -- ~ ... 000391 ​.1 Falik-Zaccai et al [2012] EYS Retinitis pigmentosa AR c.[403delA;406G>T;410_424del15] 8 ...
  3. Bardet-Biedl Syndrome Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1363
    ... renal anomalies & polydactyly "Leanest" of obesity phenotype Nonsyndromic retinitis pigmentosa BBS4 5.3% ↓ penetrance of renal anomalies Early- ... less "syndromic" w/↓ penetrance of renal anomalies Nonsyndromic retinitis pigmentosa ARL6 (BBS3) 5.1% Least "syndromic" w/low ...
  4. Choroideremia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1337
    ... subcapsular cataracts are similar to those observed in retinitis pigmentosa. Cystoid macular edema has been reported. Heterozygous females ... Overlapping Features Distinguishing Features ~80 genes 1 Nonsyndromic retinitis pigmentosa (RP) AD AR XL 3 The symptoms of ...
  5. Bietti Crystalline Dystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK91457
    ... retinal degeneration that fall under the category of retinitis pigmentosa and allied disorders, namely: reduced visual acuity, poor ... similar to those of individuals with autosomal recessive retinitis pigmentosa . The presenting symptom, rate of disease progression, and ...
  6. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Ashkenazi ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535149
    ... et al [2017] , Zlotogora et al [2018] DHDDS Retinitis pigmentosa, nonsyndromic AR c.124A>G p.Lys42Glu <100% ... et al [2010] , Lazarin et al [2013] EYS Retinitis pigmentosa AR c.9286_9295delGTAAATATCG p.Val3096LeufsTer28 <100% 4 ...
  7. Cranioectodermal Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154653
    ... IFT43 and IFT140 have been associated with isolated retinitis pigmentosa 81 (OMIM 617871 ) and isolated retinitis pigmentosa 80 (OMIM 617781 ), respectively. Other autosomal recessive phenotypes ...
  8. Charcot-Marie-Tooth Hereditary Neuropathy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1358
    ... Linked Adrenoleukodystrophy ABHD12 AR Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, & cataract (PHARC) OMIM 612674 FXN AR Friedreich ataxia ...
  9. Zellweger Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1448
    ... w/prominent neurologic & myopathic features >80 genes 4 Retinitis pigmentosa AD AR XL (Digenic) Progressive visual loss ADGRV1 ... recessive; Mat = maternal; MOI = mode of inheritance; RP = retinitis pigmentosa; SNHL = sensorineural hearing loss; XL = X-linked 1. ...
  10. PNPLA6 Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK247161
    ... of inheritance; NARP = neurogenic muscle weakness, ataxia, and retinitis pigmentosa; RP = retinitis pigmentosa; SCA = spinocerebellar ataxia 1. Abetalipoproteinemia ...
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