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Results 1 - 5 of 5 for Cataract 13 with adult I phenotype
  1. Mevalonate kinase deficiency 
    ... or clouding of the lens of the eye (cataracts). Affected adults may have short stature and may develop muscle ... 1:13. doi: 10.1186/1750-1172-1-13. Citation on PubMed or Free article on PubMed ... genotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat. 2006 ...
    https://medlineplus.gov/.../condition/mevalonate-kinase-deficiency - Genetics
  2. FTL gene 
    ... PubMed Millonig G, Muckenthaler MU, Mueller S. Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder. Hum Genomics. ...
    https://medlineplus.gov/genetics/gene/ftl - Genetics
  3. Myotonic Muscular Dystrophy (Muscular Dystrophy Association)  
    Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Muscular Dystrophy Association ... MDA is the #1 health nonprofit advancing research, care and advocacy for people ...
    https://www.mda.org/disease/myotonic-dystrophy - External Health Links
  4. Peters plus syndrome 
    ... Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele. Prenat Diagn. 2013 Jan;33(1):75-80. doi: 10.1002/pd.4012. Epub 2012 Nov 13. Citation on PubMed
    https://medlineplus.gov/genetics/condition/peters-plus-syndrome - Genetics
  5. Saul-Wilson syndrome 
    ... fractures that occur with little or no trauma. Adults with Saul-Wilson syndrome ... of the lenses of the eyes (cataracts), or a blue tint to the whites of ...
    https://medlineplus.gov/genetics/condition/saul-wilson-syndrome - Genetics