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Results 1 - 10 of 14 for Developmental defect of the eye
  1. MMADHC gene 
    ... described above. People with this combined condition have developmental delay, eye defects, neurological problems, and blood abnormalities. The MMADHC gene ...
    https://medlineplus.gov/genetics/gene/mmadhc - Genetics
  2. PRDX1 gene 
    ... is one form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities. Variants in the ...
    https://medlineplus.gov/genetics/gene/prdx1 - Genetics
  3. HCFC1 gene 
    ... is one form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities. Individuals with this ...
    https://medlineplus.gov/genetics/gene/hcfc1 - Genetics
  4. MMACHC gene 
    ... most common form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities. MMACHC gene variants ...
    https://medlineplus.gov/genetics/gene/mmachc - Genetics
  5. LMBRD1 gene 
    ... is one form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities. LMBRD1 gene variants ...
    https://medlineplus.gov/genetics/gene/lmbrd1 - Genetics
  6. ABCD4 gene 
    ... is one form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities. Individuals with cblJ ...
    https://medlineplus.gov/genetics/gene/abcd4 - Genetics
  7. FOXC1 gene 
    ... mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet. 2001 Feb;68(2): ...
    https://medlineplus.gov/genetics/gene/foxc1 - Genetics
  8. TWNK gene 
    ... impaired oxidative phosphorylation. It has been suggested that eye muscles are ... function, developmental delay, seizures, and loss of sensation and weakness ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  9. FBLN5 gene 
    ... risk factor for age-related macular degeneration, an eye disease that is a leading cause of vision ... not a major risk factor for this common eye disorder. A combination of genetic and environmental factors ...
    https://medlineplus.gov/genetics/gene/fbln5 - Genetics
  10. GJA1 gene 
    ... is found in many tissues such as the eyes, skin, bone, ears, heart, and brain, and it ... dysplasia, a condition characterized by abnormalities of the eyes (oculo-), teeth (dento-), and fingers (digital). The GJA1 ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
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