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Abnormality of the digestive system
- ... the gastrointestinal tract during development before birth, causing abnormalities in the layering of these muscles. Smooth muscles line the internal organs; they contract and relax without being consciously controlled. In the digestive tract, abnormal layering of these muscles may interfere ...
- ... and often impair the function of the nervous system. Affected people may develop decreased reflexes (hyporeflexia) and a decreased ability to sense vibrations. Rarely, affected individuals have heart abnormalities or muscle wasting (amyotrophy). Chylomicron retention disease is ...
- ... the muscle contractions that move food through the digestive tract. It can occur at any time of life, and its symptoms range from mild to severe. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from ...
- ... threatening problems with breathing. The combination of skeletal abnormalities ... system (which produces hormones), eyes, teeth, and skin. Additionally, ...
- ... of the brain and spinal cord (central nervous system).The amnionless protein ... or kidneys. During digestion, vitamin B12 is released from food. As the ...
- ... production of certain hormones and acids used in digestion (bile acids). ... by bone, skin, and eye abnormalities. Some of the mutations responsible for this condition ...
- ... role in the production of certain hormones and digestive acids.Mutations in the ... of many body systems. It is not known, however, how this disturbance ...
- ... underside of the penis (hypospadias) in affected males, digestive problems, absent tear duct openings in the eyes, ... the development of the limbs, facial features, urinary system, and other organs and tissues.The TP63 gene ...
- ... the muscle contractions that move food through the digestive tract (intestinal pseudo-obstruction).There are three types ... HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins ...