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Results 1 - 7 of 7 for Congenital aniridia
  1. Aniridia 
    Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of ...
    https://medlineplus.gov/genetics/condition/aniridia - Genetics
  2. Gillespie syndrome 
    ... individuals, part of the iris is missing (partial aniridia) in both eyes. In addition, the irises have ... accounts for about 2 percent of cases of aniridia. Gillespie syndrome is caused by mutations in the ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  3. WAGR syndrome 
    ... is named for its main features: Wilms tumor, aniridia, genitourinary anomalies, and a range of developmental delays. ... Wilms tumor. Most people with WAGR syndrome have aniridia, an absence of the colored part of the ...
    https://medlineplus.gov/genetics/condition/wagr-syndrome - Genetics
  4. PAX6 gene 
    ... the PAX6 gene have been found to cause aniridia, which is an absence of the colored part ... other genes.The majority of mutations that cause aniridia occur within the PAX6 gene; however, some disease- ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
  5. Chromosome 11 
    ... known as Wilms tumor, an eye problem called aniridia, genitourinary anomalies, and a range of developmental delays. ... PAX6 gene disrupts normal eye development, leading to aniridia and other eye problems, and may also affect ...
    https://medlineplus.gov/genetics/chromosome/11 - Genetics
  6. Farsightedness 
    ... farsightedness as a characteristic feature include microphthalmia, achromatopsia, aniridia, Leber congenital amaurosis, X-linked juvenile retinoschisis, Senior- ...
    https://medlineplus.gov/genetics/condition/farsightedness - Genetics
  7. ITPR1 gene 
    ... Williamson KA, FitzPatrick DR. The genetic architecture of aniridia and Gillespie syndrome. Hum Genet. 2019 Sep;138( ...
    https://medlineplus.gov/genetics/gene/itpr1 - Genetics