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Results 1 - 10 of 13 for Abnormality of the lower limb
  1. PITX1 gene 
    ... PITX1 gene mutations have been found to cause lower limb abnormalities, including an inward- and upward-turning foot (clubfoot) ... toes (polydactyly), specifically a severe form of the abnormality called ... of the lower limbs. The upper limbs are normal in individuals with ...
    https://medlineplus.gov/genetics/gene/pitx1 - Genetics
  2. ATL1 gene 
    ... particularly to other neurons and muscles in the lower extremities. This impaired nerve ... by nerve abnormalities in the legs and feet (peripheral neuropathy). Many ...
    https://medlineplus.gov/genetics/gene/atl1 - Genetics
  3. FOXC2 gene 
    ... with primary valve failure in veins of the lower limb. Circulation. 2007 Apr 10;115(14):1912-20. ...
    https://medlineplus.gov/genetics/gene/foxc2 - Genetics
  4. ALDH18A1 gene 
    ... spasticity) and the development of paralysis of the lower limbs (paraplegia) caused by breakdown of nerve cells that ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  5. PLP1 gene 
    ... movement problems, particularly muscle stiffness (spasticity) in the lower limbs that worsens over time. Generally, PLP1 gene mutations ...
    https://medlineplus.gov/genetics/gene/plp1 - Genetics
  6. FMR1 gene 
    ... ataxia), tremor, memory loss, reduced sensation in the lower extremities (peripheral neuropathy), and mental and behavioral changes. The ... one or more of these problems. The neuropsychiatric abnormalities are thought to be caused by an abundance ...
    https://medlineplus.gov/genetics/gene/fmr1 - Genetics
  7. NOTCH1 gene 
    ... Notch1 signaling may underlie blood vessel and heart abnormalities in people with Adams-Oliver syndrome. However, while these types of abnormalities are more common in affected individuals with NOTCH1 ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  8. FGFR3 gene 
    ... distinctive facial features. It also causes a skin abnormality called acanthosis nigricans that is characterized by thick, ... nevi also occur in people with another skin abnormality called seborrheic keratosis and in people with skeletal ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  9. SF3B4 gene 
    ... cause Nager syndrome, which is primarily characterized by abnormalities of the face, hands, and arms, such as ... face, arms, and legs as well as lung abnormalities. Affected individuals have abnormally short arm bones, such ...
    https://medlineplus.gov/genetics/gene/sf3b4 - Genetics
  10. PMP22 gene 
    ... nerve problems that cause lower leg and foot abnormalities. Duplication of the RAI1 gene accounts for delayed development, behavioral problems, and some of the other abnormalities characteristic of YUHAL syndrome. More About This Health ...
    https://medlineplus.gov/genetics/gene/pmp22 - Genetics
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