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Results 21 - 30 of 124 for Abnormality of the eye
  1. COL4A5 gene 
    ... condition characterized by kidney disease, hearing loss, and eye abnormalities. Most of these variants change single protein building ...
    https://medlineplus.gov/genetics/gene/col4a5 - Genetics
  2. OTX2 gene 
    ... the major features of septo-optic dysplasia, including eye abnormalities, underdevelopment of the pituitary gland (pituitary hypoplasia), and ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  3. DCN gene 
    ... abnormal decorin may also lead to the other eye abnormalities seen in people with congenital stromal corneal dystrophy. ...
    https://medlineplus.gov/genetics/gene/dcn - Genetics
  4. EBP gene 
    ... females and is characterized by bone, skin, and eye abnormalities. Some of the mutations responsible for this condition ...
    https://medlineplus.gov/genetics/gene/ebp - Genetics
  5. TRNT1 gene 
    ... delayed development of speech and motor skills, and eye abnormalities that cause vision problems. The severity of the ...
    https://medlineplus.gov/genetics/gene/trnt1 - Genetics
  6. ITPR1 gene 
    ... people with Gillespie syndrome, a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems ...
    https://medlineplus.gov/genetics/gene/itpr1 - Genetics
  7. ALDH18A1 gene 
    ... the lenses of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement problems that can worsen ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  8. PNPLA6 gene 
    ... peripheral neuropathy), intellectual disability or other cognitive problems, eye abnormalities, impaired vision, hair abnormalities, hypogonadotropic hypogonadism, and reduced ...
    https://medlineplus.gov/genetics/gene/pnpla6 - Genetics
  9. B3GLCT gene 
    ... B3GLCT gene. Peters plus syndrome is characterized by eye abnormalities, short stature, intellectual disability, and distinctive facial features. ...
    https://medlineplus.gov/genetics/gene/b3glct - Genetics
  10. COL18A1 gene 
    ... BR. Lack of collagen XVIII/endostatin results in eye abnormalities. EMBO J. 2002 Apr 2;21(7):1535- ...
    https://medlineplus.gov/genetics/gene/col18a1 - Genetics
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