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Results 1 - 10 of 47 for Cataract 6
  1. Hyperferritinemia-cataract syndrome 
    ... on PubMed Christiansen G, Mohney BG. Hereditary hyperferritinemia-cataract syndrome. J AAPOS. 2007 Jun;11(3):294-6. doi: 10.1016/j.jaapos.2007.01.126. ...
    https://medlineplus.gov/.../hyperferritinemia-cataract-syndrome - Genetics
  2. PAX6 gene 
    ... 1; FVH1 KERATITIS, HEREDITARY OPTIC NERVE HYPOPLASIA, BILATERAL CATARACT 9, MULTIPLE TYPES; CTRCT9 PAIRED BOX GENE 6; PAX6 NCBI Gene ClinVar Azuma N, Yamaguchi Y, ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
  3. EYA1 gene 
    ... absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet. 2000 Feb 12;9(3):363-6. doi: 10.1093/hmg/9.3.363. Citation ...
    https://medlineplus.gov/genetics/gene/eya1 - Genetics
  4. Congenital cataracts, facial dysmorphism, and neuropathy 
    ... G, Aneva L, Radeva O, Thomas PK. Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations. Ann Neurol. 1999 Jun;45(6):742-50. Citation on PubMed Varon R, Gooding ...
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy - Genetics
  5. RAB18 deficiency 
    ... DJ. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013 Dec 5;93(6):1001-14. doi: 10.1016/j.ajhg.2013. ...
    https://medlineplus.gov/genetics/condition/rab18-deficiency - Genetics
  6. TBC1D20 gene 
    ... DJ. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013 Dec 5;93(6):1001-14. doi: 10.1016/j.ajhg.2013. ...
    https://medlineplus.gov/genetics/gene/tbc1d20 - Genetics
  7. CTDP1 gene 
    ... books/NBK25565/ Citation on PubMed Kalaydjieva L. Congenital ... Front Biosci. 2001 Oct 1;6:D1358-68. doi: 10.2741/majello. Citation on ...
    https://medlineplus.gov/genetics/gene/ctdp1 - Genetics
  8. Microphthalmia 
    ... Rare Disorders (NORD) ClinicalTrials.gov ... ISOLATED 6; MCOP6 MICROPHTHALMIA, ISOLATED 8; MCOP8 MICROPHTHALMIA/COLOBOMA 9; ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  9. Rothmund-Thomson syndrome 
    ... a clouding of the lens of the eye (cataract), which affects vision. Many people with this disorder ... of the condition. Congenital poikiloderma Poikiloderma atrophicans and cataract Poikiloderma congenitale Poikiloderma congenitale of Rothmund-Thomson RTS ...
    https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome - Genetics
  10. Oculofaciocardiodental syndrome 
    ... eye problems can include clouding of the lens (cataract) and a higher risk of glaucoma, an eye ... males are born with OFCD syndrome. MCOPS2 Microphthalmia, cataracts, radiculomegaly, and septal heart defects Microphthalmia, syndromic 2 ...
    https://medlineplus.gov/.../oculofaciocardiodental-syndrome - Genetics
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