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Results 1 - 10 of 26 for Short bowel syndrome
  1. ... loss of intestinal tissue, and a condition called short bowel syndrome that occurs when areas of the small intestine ...
  2. ... Chronic idiopathic intestinal pseudo-obstruction CIIP CIPO Congenital short bowel syndrome Enteric neuropathy Familial visceral myopathy Familial visceral neuropathy ...
  3. ... disabilities. Less often, affected individuals have hearing loss, short ... of the small intestine (duodenal atresia). Individuals with type 2 do not ...
  4. ... autoimmune disorders in affected individuals, typically affecting the intestines, ... short, nonfunctional protein. Mutations in the FOXP3 gene impair ...
  5. ... point upward (upslanting palpebral fissures), small ears, a short neck, and a ... of the intestine, are less common.Individuals with Down syndrome have ...
  6. ... organs and tissues, including the skin, liver, muscles, intestine, and bone ... progressive muscle weakness (myopathy), and intellectual disabilities. ...
  7. ... KCNQ1 gene can cause a heart condition called short QT syndrome. In people with this condition, the cardiac muscle ... sudden death.The KCNQ1 gene mutations associated with short QT syndrome change single amino acids in the KCNQ1 protein. ...
  8. ... with age.Common signs and symptoms of Myhre syndrome include short stature, skeletal abnormalities, limited joint mobility, characteristic facial ... parent. LAPS syndrome Laryngotracheal stenosis, arthropathy, prognathism, and short stature ... Myhre syndrome National Organization for Rare Disorders (NORD) ...
  9. ... DJ. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet. ...
  10. ... which are defined by the region of the intestine lacking nerve cells. In short-segment disease, nerve cells are missing from only the last segment of the large intestine (colon). This type is most common, occurring in ...
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