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Results 1 - 10 of 10 for Abnormality of the peripheral nervous system
  1. DHH gene 
    ... XY gonadal dysgenesis with minifascicular neuropathy. The nerve ... nervous system). Affected individuals may experience weakness and loss of ...
    https://medlineplus.gov/genetics/gene/dhh - Genetics
  2. GJB1 gene 
    ... transmission of nerve impulses.In addition to the peripheral nervous system ... abnormalities do not generally cause any symptoms. Research suggests ...
    https://medlineplus.gov/genetics/gene/gjb1 - Genetics
  3. PLP1 gene 
    ... the brain and spinal cord to muscles (the peripheral nervous system). These two proteins are found within the cell ... disease is an inherited condition involving the central nervous system that ... abnormalities. In addition, these individuals have difficulty walking or ...
    https://medlineplus.gov/genetics/gene/plp1 - Genetics
  4. PMP22 gene 
    ... 22 (PMP22). This protein is found in the peripheral nervous system, which connects the brain and spinal cord to ...
    https://medlineplus.gov/genetics/gene/pmp22 - Genetics
  5. 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
  6. TRPV4 gene 
    ... TRPV4 channel activity result in the particular skeletal abnormalities associated ... nervous system.In addition to metatropic dysplasia, skeletal disorders associated ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  7. TWNK gene 
    ... mtDNA depletion). Impaired mitochondrial function, especially in the nervous ... and females and abnormalities of the ovaries in affected females. The mutations ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  8. FMR1 gene 
    ... normal functions of nerve cells and, consequently, the nervous system, causing severe learning problems, intellectual disability, and the ... being produced. The abnormal or missing protein disrupts nervous system functions, leading to the signs and symptoms of ...
    https://medlineplus.gov/genetics/gene/fmr1 - Genetics
  9. ATL1 gene 
    ... primarily in the brain and spinal cord (central nervous system), particularly in nerve cells (neurons) that extend down ... type ID. This condition is characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition experience prickling ...
    https://medlineplus.gov/genetics/gene/atl1 - Genetics
  10. PNPLA6 gene 
    ... NTE protein is found most abundantly in the nervous system. It plays an important role in maintaining the ... fast (brisk) reflexes, reduced sensation in the extremities (peripheral ... vision, hair abnormalities, hypogonadotropic hypogonadism, and reduced ...
    https://medlineplus.gov/genetics/gene/pnpla6 - Genetics