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Abnormality of lower limb joint
- ... 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 ...
- ... 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 ...
- ... babies may have low muscle tone (hypotonia) or joint deformities that limit their ability to move (contractures). ...
