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Results 1 - 10 of 204 for Abnormality of the nervous system
  1. Stüve-Wiedemann syndrome 
    ... syndrome is a severe condition characterized by bone abnormalities and dysfunction of the autonomic nervous system, which controls involuntary body processes such as the ...
    https://medlineplus.gov/genetics/condition/stuve-wiedemann-syndrome - Genetics
  2. 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
  3. 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
  4. 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
  5. T-cell immunodeficiency, congenital alopecia, and nail dystrophy 
    ... However, it is not yet known whether central nervous system abnormalities are a common feature of T-cell immunodeficiency, ...
    https://medlineplus.gov/...cy-congenital-alopecia-and-nail-dystrophy - Genetics
  6. TUBB4A-related leukodystrophy 
    ... the nervous system. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve fibers ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  7. 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
  8. Pol III-related leukodystrophy 
    ... of the body. Leukodystrophies are conditions that involve abnormalities of the nervous system's white matter, which consists of nerve cells ( ...
    https://medlineplus.gov/.../condition/pol-iii-related-leukodystrophy - Genetics
  9. 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
  10. 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
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