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Results 1 - 10 of 156 for Abnormality of the liver
  1. NPHP1 gene 
    ... involves neurological problems and can include nephronophthisis, eye abnormalities, liver disease, and other abnormalities. As in nephronophthisis type1 ( ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics
  2. SLC30A10 gene 
    ... number of red blood cells (polycythemia); and liver abnormalities, including irreversible liver disease (cirrhosis).Mutations in the SLC30A10 gene impair ...
    https://medlineplus.gov/genetics/gene/slc30a10 - Genetics
  3. CPT1A gene 
    ... levels of ammonia in the blood (hyperammonemia), and abnormalities in liver enzymes. A small percentage of women who have ...
    https://medlineplus.gov/genetics/gene/cpt1a - Genetics
  4. Congenital bile acid synthesis defect type 1 
    ... As the condition progresses, affected individuals can develop liver abnormalities including an enlarged liver (hepatomegaly), inflammation, or chronic ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-1 - Genetics
  5. Congenital bile acid synthesis defect type 2 
    ... As the condition progresses, affected individuals can develop liver abnormalities including inflammation or chronic liver disease (cirrhosis). Some individuals with congenital bile acid ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-2 - Genetics
  6. NGLY1 gene 
    ... affects many body systems, causing delayed development, movement abnormalities, problems with liver function, eye abnormalities, and a reduction or absence ...
    https://medlineplus.gov/genetics/gene/ngly1 - Genetics
  7. Hypermanganesemia with dystonia 
    ... from manganese buildup in the liver leads to liver abnormalities in people with HMDPC. Because SLC39A14 gene mutations prevent manganese from entering liver cells, people with hypermanganesemia with dystonia 2 do ...
    https://medlineplus.gov/.../hypermanganesemia-with-dystonia - Genetics
  8. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... this condition can have vision problems, hearing loss, liver abnormalities (hepatopathy), and immune deficiency due to a decrease ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  9. Very long-chain acyl-CoA dehydrogenase deficiency 
    ... also at risk for serious complications such, as liver abnormalities and life-threatening heart problems. Individuals with childhood-onset VLCAD deficiency typically experience an enlarged liver (hepatomegaly) and low blood glucose. This form is ...
    https://medlineplus.gov/...g-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  10. Cranioectodermal dysplasia 
    ... kidney function known as end-stage renal disease. Abnormalities of the liver, heart, or eyes also occur in people with ...
    https://medlineplus.gov/.../condition/cranioectodermal-dysplasia - Genetics
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