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Results 1 - 10 of 124 for Abnormality of the 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. 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
  3. 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
  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. 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
  6. 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
  7. ALDH3A2 gene 
    ... condition characterized by dry, scaly skin (ichthyosis); neurological abnormalities; and eye problems. Many of these mutations change single protein ...
    https://medlineplus.gov/genetics/gene/aldh3a2 - Genetics
  8. NGLY1 gene 
    ... delayed development, movement abnormalities, problems with liver function, eye abnormalities, and a reduction or absence of tears (hypolacrima ...
    https://medlineplus.gov/genetics/gene/ngly1 - Genetics
  9. 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 ...
    https://medlineplus.gov/genetics/gene/pax2 - Genetics
  10. GNAQ gene 
    ... cause port-wine birthmarks without the brain or eye abnormalities that are often associated with Sturge-Weber syndrome ( ...
    https://medlineplus.gov/genetics/gene/gnaq - Genetics
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