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Results 1 - 10 of 77 for Abnormality of the nervous system
  1. FOXN1 gene 
    ... However, it is not yet known whether central nervous system abnormalities are a common feature of this condition. It ...
    https://medlineplus.gov/genetics/gene/foxn1 - Genetics
  2. XPA gene 
    ... variants, it is often associated with progressive neurological abnormalities. These nervous system problems include hearing loss, poor coordination, difficulty walking, ...
    https://medlineplus.gov/genetics/gene/xpa - Genetics
  3. ERCC2 gene 
    ... variants, it is often associated with progressive neurological abnormalities. These nervous system problems include hearing loss, poor coordination, difficulty walking, ...
    https://medlineplus.gov/genetics/gene/ercc2 - Genetics
  4. VRK1 gene 
    ... unclear why VRK1 gene mutations can cause different nervous system abnormalities in different people. It is also unknown why the effects of these mutations appear to be limited to the nervous system, as VRK serine/threonine kinase 1 is active ...
    https://medlineplus.gov/genetics/gene/vrk1 - Genetics
  5. LMNB1 gene 
    ... autonomic disease (ADLD). This condition is characterized by nervous system abnormalities due to the loss of myelin, which is a fatty substance that insulates nerve fibers and promotes the rapid transmission ... nervous system problems, such as difficulty with bowel and bladder ...
    https://medlineplus.gov/genetics/gene/lmnb1 - Genetics
  6. GJB1 gene 
    ... disease caused by GJB1 gene mutations. These central nervous system abnormalities do not generally cause any symptoms. Research suggests that another connexin protein whose function overlaps with that of connexin-32 helps compensate for ... CMTX CMTX1 connexin ...
    https://medlineplus.gov/genetics/gene/gjb1 - Genetics
  7. POLR3A gene 
    ... III-related leukodystrophy. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter. White matter consists of nerve ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  8. POLR3B gene 
    ... III-related leukodystrophy. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter. White matter consists of nerve ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
  9. DARS1 gene 
    ... leg spasticity (HBSL). This condition is characterized by abnormalities of the nervous system's white matter, usually involving particular regions of ...
    https://medlineplus.gov/genetics/gene/dars1 - Genetics
  10. PIGA gene 
    ... weak muscle tone (hypotonia), distinctive facial features, and abnormalities of the brain and spinal cord (central nervous system) and other body systems. Less severely affected individuals ...
    https://medlineplus.gov/genetics/gene/piga - Genetics
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