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Results 1 - 10 of 12 for Infantile Nystagmus
  1. X-linked infantile nystagmus 
    X-linked infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary side-to-side, up-and- ...
    https://medlineplus.gov/.../condition/x-linked-infantile-nystagmus - Genetics
  2. FRMD7 gene 
    ... gene have been found to cause X-linked infantile nystagmus. Most of these mutations change single protein building ... eye movements that are characteristic of X-linked infantile nystagmus. More About This Health Condition FRMD7_HUMAN NYS1 ...
    https://medlineplus.gov/genetics/gene/frmd7 - Genetics
  3. CASK-related intellectual disability 
    ... CASK: evidence for a causal role in idiopathic infantile nystagmus. Hum Mol Genet. 2013 May 15;22(10): ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  4. CASK gene 
    ... CASK: evidence for a causal role in idiopathic infantile nystagmus. Hum Mol Genet. 2013 May 15;22(10): ...
    https://medlineplus.gov/genetics/gene/cask - Genetics
  5. Infantile neuroaxonal dystrophy 
    ... in some affected children.Rapid, involuntary eye movements (nystagmus), eyes ... infantile neuroaxonal dystrophy. Hearing loss may also develop. Children ...
    https://medlineplus.gov/.../infantile-neuroaxonal-dystrophy - Genetics
  6. UNC80 deficiency 
    ... involuntary side-to-side movements of the eyes (nystagmus), eyes that do not point in the same ... show signs and symptoms of the condition. IHPRF2 Infantile hypotonia with psychomotor retardation and characteristic facies-2 ...
    https://medlineplus.gov/genetics/condition/unc80-deficiency - Genetics
  7. Costeff syndrome 
    ... affected individuals have rapid and involuntary eye movements (nystagmus) or eyes that do not look in the ... recessive optic atrophy 3 Costeff optic atrophy syndrome Infantile optic atrophy with chorea and spastic paraplegia Iraqi ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  8. Leigh syndrome 
    ... move the eyes (ophthalmoparesis); rapid, involuntary eye movements (nystagmus); or degeneration of the nerves that carry information ... there is no family history of this condition. Infantile subacute necrotizing encephalopathy Juvenile subacute necrotizing encephalopathy Leigh ...
    https://medlineplus.gov/genetics/condition/leigh-syndrome - Genetics
  9. CACNA1A gene 
    ... and balance (ataxia) and involuntary eye movements called nystagmus. The CACNA1A variants that cause EA2 are known ... above), FHM1 is commonly associated with ataxia and nystagmus. Most of the variants that cause FHM1 change ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  10. TPP1 gene 
    ... problems, such as involuntary movement of the eyes (nystagmus), rapid eye movements (saccades), and trouble moving the ... tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis. J Biol Chem. 2009 Feb 6; ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
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