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Abnormality of the liver
- ... involves neurological problems and can include nephronophthisis, eye abnormalities, liver disease, and other abnormalities. As in nephronophthisis type1 ( ...
- ... number of red blood cells (polycythemia); and liver abnormalities, including irreversible liver disease (cirrhosis).Mutations in the SLC30A10 gene impair ...
- ... levels of ammonia in the blood (hyperammonemia), and abnormalities in liver enzymes. A small percentage of women who have ...
- ... affects many body systems, causing delayed development, movement abnormalities, problems with liver function, eye abnormalities, and a reduction or absence ...
- ... sacs called cysts). Affected individuals may also have abnormalities of the pancreas, liver, or genital tract; or a condition called gout, ...
- ... individuals, asphyxiating thoracic dystrophy is also associated with abnormalities of the kidneys, liver, retinas, and other tissues. However, when the disorder ...
- ... individuals, asphyxiating thoracic dystrophy is also associated with abnormalities of the kidneys, liver, retinas, and other tissues. However, when the disorder ...
- ... symptoms include chronic diarrhea starting in infancy, hair abnormalities, distinctive facial features, and liver disease. Mutations in this gene likely eliminate the ...
- ... symptoms include chronic diarrhea starting in infancy, hair abnormalities, distinctive facial features, and liver disease. Variants in this gene likely eliminate the ...
- ... a person's risk of developing lung disease, liver disease, and other abnormalities.Many SERPINA1 gene variants change single protein building ...