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Results 1 - 10 of 39 for Congenital anomaly of eye
  1. BEST1 gene 
    ... affect chloride ion transport or lead to the eye abnormalities characteristic of ADVIRC. Researchers suspect that the abnormalities ... gene have been found in individuals who have eye abnormalities such as increased pressure in the eyes (glaucoma); ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  2. SOX2 gene 
    ... some people with SOX2 gene variants only develop eye abnormalities, while others develop eye abnormalities with additional signs and symptoms. More About This ...
    https://medlineplus.gov/genetics/gene/sox2 - Genetics
  3. EYA1 gene 
    ... in the EYA1 gene have been associated with eye abnormalities including clouding of the lens (cataracts) and clouding ... believe that the EYA1 gene mutations responsible for eye abnormalities have less severe effects on protein function than ...
    https://medlineplus.gov/genetics/gene/eya1 - Genetics
  4. COL4A4 gene 
    ... condition characterized by kidney disease, hearing loss, and eye abnormalities. Most of these variants change single protein building ... of the condition can have hearing loss and eye abnormalities in addition to kidney problems. More About This ...
    https://medlineplus.gov/genetics/gene/col4a4 - Genetics
  5. LRP5 gene 
    ... to multiple bone fractures. Affected individuals also have eye abnormalities that cause vision impairment from birth or early ... normal retinal development, leading to the bone and eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome. It is unclear ...
    https://medlineplus.gov/genetics/gene/lrp5 - Genetics
  6. COL4A1 gene 
    ... small-vessel disease is characterized by stroke and eye abnormalities. Most of the identified COL4A1 gene mutations that ... throughout the body, kidney disease, muscle cramps, and eye abnormalities. Most of the identified COL4A1 gene mutations that ...
    https://medlineplus.gov/genetics/gene/col4a1 - Genetics
  7. COL4A3 gene 
    ... condition characterized by kidney disease, hearing loss, and eye abnormalities. Most of these variants change single protein building ... of the condition can have hearing loss and eye abnormalities in addition to kidney problems. More About This ...
    https://medlineplus.gov/genetics/gene/col4a3 - Genetics
  8. PAX2 gene 
    ... coloboma syndrome, the PAX2 gene variants associated with eye abnormalities likely disrupt regulation of genes that help direct normal eye development. Researchers are working to understand why variants in this gene can affect ... Taroni F, Montini G. Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current ...
    https://medlineplus.gov/genetics/gene/pax2 - Genetics
  9. NPHP1 gene 
    ... typically involves neurological problems and can include nephronophthisis, eye abnormalities, liver disease, and other abnormalities. As in nephronophthisis ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  10. ADAMTS10 gene 
    ... function of the lens of the eye, causing eye abnormalities and impaired vision. Additionally, a lack of this ...
    https://medlineplus.gov/genetics/gene/adamts10 - Genetics
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