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Results 1 - 10 of 104 for Abnormality of the liver
  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. SUCLG1-related mitochondrial DNA depletion syndrome 
    ... require a feeding tube. Additional features may include liver abnormalities and thickening of the heart muscle (hypertrophic cardiomyopathy). ...
    https://medlineplus.gov/...ated-mitochondrial-dna-depletion-syndrome - Genetics
  8. Osteopetrosis 
    ... can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes ...
    https://medlineplus.gov/genetics/condition/osteopetrosis - Genetics
  9. 17q12 deletion syndrome 
    ... disorder.Less commonly, 17q12 deletion syndrome also causes abnormalities of the eyes, liver, brain, genitalia, and other body systems. Some females ...
    https://medlineplus.gov/genetics/condition/17q12-deletion-syndrome - Genetics
  10. Primary ciliary dyskinesia 
    ... syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally ...
    https://medlineplus.gov/.../condition/primary-ciliary-dyskinesia - Genetics
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