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Results 1 - 4 of 4 for Abnormality of lower limb joint
  1. PITX1 gene 
    ... PITX1 gene mutations have been found to cause lower limb abnormalities, including an inward- and upward-turning foot (clubfoot) and absence or severe shortening of a bone in the lower leg called the tibia (tibial hemimelia). These gene ...
    https://medlineplus.gov/genetics/gene/pitx1 - Genetics
  2. COL2A1 gene 
    ... is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. Several of the COL2A1 gene variants that ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  3. ALDH18A1 gene 
    ... often described as parchment-like; prominant veins; loose joints; clouding of the lenses of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement problems that can worsen ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  4. TTN gene 
    ... babies may have low muscle tone (hypotonia) or joint deformities that limit their ability to move (contractures). ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics