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Results 1 - 10 of 14 for Aganglionic megacolon
  1. Hirschsprung disease 
    ... altered gene from a parent develops Hirschsprung disease. Aganglionic megacolon Congenital intestinal aganglionosis Congenital megacolon Hirschsprung's disease ...
    https://medlineplus.gov/genetics/condition/hirschsprung-disease - Genetics
  2. Mowat-Wilson syndrome 
    ... intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.Children with Mowat-Wilson ... syndrome are born with an intestinal disorder called Hirschsprung disease that causes severe constipation, intestinal blockage, and enlargement ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  3. RET gene 
    ... gene are the most common genetic cause of Hirschsprung disease, a disorder that causes severe constipation or blockage ... absence leads to the intestinal problems characteristic of Hirschsprung disease. More About This Health Condition More than 25 ...
    https://medlineplus.gov/genetics/gene/ret - Genetics
  4. Congenital central hypoventilation syndrome 
    ... in the nerves that control the digestive tract (Hirschsprung disease), resulting in severe constipation, intestinal blockage, and enlargement ... researchers refer to the combination of CCHS and Hirschsprung disease as Haddad syndrome.) Some affected individuals develop learning ...
    https://medlineplus.gov/...ngenital-central-hypoventilation-syndrome - Genetics
  5. Bardet-Biedl syndrome 
    Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  6. EDNRB gene 
    ... the EDNRB gene have been found to cause Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. Although Hirschsprung disease is a feature of another condition called Waardenburg ...
    https://medlineplus.gov/genetics/gene/ednrb - Genetics
  7. EDN3 gene 
    ... the EDN3 gene have been found to cause Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. Although Hirschsprung disease is a feature of another disorder called Waardenburg ...
    https://medlineplus.gov/genetics/gene/edn3 - Genetics
  8. SOX10 gene 
    ... II and type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome). Both types of Waardenburg ... type IV also have an intestinal disorder called Hirschsprung disease that causes severe constipation or intestinal blockage. Most ...
    https://medlineplus.gov/genetics/gene/sox10 - Genetics
  9. L1CAM gene 
    ... buildup of fluid in the brain (hydrocephalus) and Hirschsprung disease. Hirschsprung disease is an intestinal disorder characterized by the absence ... the brain and intestine, leading to hydrocephalus and Hirschsprung disease. antigen identified by monoclonal antibody R1 CAML1 CD171 ...
    https://medlineplus.gov/genetics/gene/l1cam - Genetics
  10. Waardenburg syndrome 
    ... in pigmentation. Type IV (also known as Waardenburg-Hirschsprung disease or Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or ...
    https://medlineplus.gov/genetics/condition/waardenburg-syndrome - Genetics
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