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Results 1 - 10 of 29 for Cataract "9," autosomal recessive
  1. CLPB gene 
    ... Inherit Metab Dis. 2015 Mar;38(2):211-9. doi: 10.1007/s10545-015-9813-0. Epub ... with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  2. CLPB deficiency 
    ... Inherit Metab Dis. 2015 Mar;38(2):211-9. doi: 10.1007/s10545-015-9813-0. Epub ... with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  3. OPA3 gene 
    ... G, Bonneau D. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet. 2004 Sep;41(9):e110. doi: 10.1136/jmg.2003.016576. No ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  4. BEST1 gene 
    ... in the eyes (glaucoma); clouding of the lens (cataracts); and a condition ... autosomal recessive bestrophinopathy (ARB) is also caused by mutations in ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  5. Vici syndrome 
    ... disorder. The parents of an individual with an autosomal recessive condition each carry one ... cataract immunodeficiency Corpus callosum agenesis-cataract-immunodeficiency syndrome Dionisi ...
    https://medlineplus.gov/genetics/condition/vici-syndrome - Genetics
  6. Congenital cataracts, facial dysmorphism, and neuropathy 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not ... dysmorphism-neuropathy syndrome National Organization for Rare ...
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy - Genetics
  7. Rothmund-Thomson syndrome 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but ... RTS ...
    https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome - Genetics
  8. RAB18 deficiency 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show ... syndrome Micro syndrome National Organization ...
    https://medlineplus.gov/genetics/condition/rab18-deficiency - Genetics
  9. Nearsightedness 
    ... MYOPIA 13, X-LINKED; MYP13 MYOPIA 18, AUTOSOMAL RECESSIVE; MYP18 MYOPIA 3, AUTOSOMAL DOMINANT; MYP3 MYOPIA 6; MYP6 MYOPIA 17, AUTOSOMAL DOMINANT; MYP17 MYOPIA 5, AUTOSOMAL DOMINANT; MYP5 MYOPIA 7; MYP7 MYOPIA 8; MYP8 MYOPIA 9; MYP9 MYOPIA 10; MYP10 MYOPIA 14; MYP14 MYOPIA ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  10. Trichothiodystrophy 
    ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the ... Genetic Testing Registry: Trichothiodystrophy 1, photosensitive Genetic ...
    https://medlineplus.gov/genetics/condition/trichothiodystrophy - Genetics
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