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  1. Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of ...
  2. ... forties or fifties and occurs in one of the four parathyroid glands. The parathyroid glands are located in the neck and secrete parathyroid hormone, which enhances the ...
  3. ... a genetic disorder characterized by problems breaking down the amino acid tyrosine, which is a building block of most proteins. If the condition is untreated, tyrosine and its byproducts build ...
  4. ... Perthes disease is a bone disorder that affects the hips. People with this condition often have pain in the hip joint and restricted movement. Usually, the condition ...
  5. ... to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. ...
  6. ... missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and ...
  7. ... depletion syndrome is an inherited disorder that affects the early development of the brain. Signs and symptoms typically appear soon after ... features may include liver abnormalities and thickening of the heart muscle (hypertrophic cardiomyopathy). In affected individuals, a ...
  8. ... protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two forms of hyperprolinemia, called ...
  9. Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to ... are distinguished by their genetic cause. Regardless of the type, signs and symptoms of Loeys-Dietz syndrome ...
  10. Hashimoto's disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help ...
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