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Results 1 - 6 of 6 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
  6. WAGR syndrome 
    ... as clouding of the lens of the eyes (cataracts), increased pressure in the eyes (glaucoma), and involuntary ... modifier effect of the BDNF gene in the phenotype of the WAGRO syndrome. Gene. 2013 Mar 10; ...
    https://medlineplus.gov/genetics/condition/wagr-syndrome - Genetics