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Results 91 - 100 of 1,314 for the
  1. Mosaic variegated aneuploidy syndrome 
    ... a rare disorder in which some cells in the body have an abnormal number of chromosomes instead of the usual 46 chromosomes, a situation known as aneuploidy. ...
    https://medlineplus.gov/.../mosaic-variegated-aneuploidy-syndrome - Genetics
  2. Hirschsprung disease 
    Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not ...
    https://medlineplus.gov/genetics/condition/hirschsprung-disease - Genetics
  3. Pyruvate dehydrogenase deficiency 
    Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
  4. Oculodentodigital dysplasia 
    ... is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). The signs and symptoms of the condition vary widely ...
    https://medlineplus.gov/.../condition/oculodentodigital-dysplasia - Genetics
  5. Horizontal gaze palsy with progressive scoliosis 
    ... progressive scoliosis (HGPPS) is a disorder that affects the eyes and the spine. Individuals with this condition are unable to ... eyes side-to-side (horizontally) from birth, although the problem may not be diagnosed until later in ...
    https://medlineplus.gov/...tal-gaze-palsy-with-progressive-scoliosis - Genetics
  6. Ring chromosome 20 syndrome 
    ... chromosome 20 syndrome is a condition that affects the normal development and function of the brain. The most common feature of this condition is recurrent ...
    https://medlineplus.gov/.../condition/ring-chromosome-20-syndrome - Genetics
  7. Von Hippel-Lindau syndrome 
    ... Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous ...
    https://medlineplus.gov/.../condition/von-hippel-lindau-syndrome - Genetics
  8. X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 
    ... Barr virus infection, and neoplasia (typically known by the acronym XMEN) is a disorder that affects the immune system in males. In XMEN, certain types ...
    https://medlineplus.gov/...pstein-barr-virus-infection-and-neoplasia - Genetics
  9. X-linked severe combined immunodeficiency 
    ... combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. ... to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, ...
    https://medlineplus.gov/...x-linked-severe-combined-immunodeficiency - Genetics
  10. Megacystis-microcolon-intestinal hypoperistalsis syndrome 
    ... hypoperistalsis syndrome (MMIHS) is a severe disorder affecting the muscles that line the bladder and intestines. It is characterized by impairment of the muscle contractions that move food through the digestive ...
    https://medlineplus.gov/...colon-intestinal-hypoperistalsis-syndrome - Genetics
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