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Results 1 - 10 of 11 for Ocular motility disease
  1. PLP1 gene 
    ... that primarily affects males. Individuals with Pelizaeus-Merzbacher disease have neurological problems including abnormal eye movements (nystagmus) and other movement abnormalities. In addition, these ...
    https://medlineplus.gov/genetics/gene/plp1 - Genetics
  2. TPP1 gene 
    ... as involuntary movement of the eyes (nystagmus), rapid eye movements ... with CLN2 disease (described above), individuals with SCAR7 likely have a ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  3. RRM2B gene 
    ... MedlinePlus Genetics provides information about Mitochondrial ... muscles that control eye movement and causes the eyelids to droop (ptosis). Some ...
    https://medlineplus.gov/genetics/gene/rrm2b - Genetics
  4. CHN1 gene 
    ... the eyes (extraocular muscles). The extraocular muscles direct eye movement and determine the position of the eyes. Variants ( ... in some cases it may also limit inward eye movement (toward the nose). This condition is referred to ...
    https://medlineplus.gov/genetics/gene/chn1 - Genetics
  5. POLG gene 
    ... disorder. This condition weakens the muscles that control eye movement and causes the eyelids to droop (ptosis).There ... tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3): ...
    https://medlineplus.gov/genetics/gene/polg - Genetics
  6. MT-TL1 gene 
    ... ophthalmoplegia. This disorder weakens the muscles that control eye movement and causes drooping eyelids (ptosis).Some cases of ... mitochondrial DNA in patients with MELAS and MERRF diseases. Exp Mol Med. 2010 Jun 30;42(6): ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  7. KIF21A gene 
    ... the characteristic features of CFEOM such as restricted eye movement and droopy eyelids. More About This Health Condition ... for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations. Sci Rep. 2016 Aug 3;6:30668. ...
    https://medlineplus.gov/genetics/gene/kif21a - Genetics
  8. SLC25A4 gene 
    ... ophthalmoplegia. This disorder weakens the muscles that control eye movement and causes the eyelids to droop (ptosis). When ... type 1 (ANT1): a new factor in mitochondrial disease. IUBMB Life. 2005 Sep;57(9):607-14. ...
    https://medlineplus.gov/genetics/gene/slc25a4 - Genetics
  9. PAX6 gene 
    ... of the lens of the eye (cataracts), involuntary eye movements (nystagmus), and inflammation of the front surface of ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
  10. OPA1 gene 
    ... hearing loss, weakness in the muscles that control eye movement (progressive external ophthalmoplegia), difficulty with balance and coordination ( ... Amati-Bonneau P, Chinnery PF. Multi-system neurological disease is common in patients with OPA1 mutations. Brain. ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
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