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Results 31 - 40 of 156 for Abnormality of the liver
  1. Chromosome 8 
    ... corpus callosum), skeletal defects, heart problems, kidney and liver malformations, and facial abnormalities. Trisomy 8 mosaicism is also associated with an ...
    https://medlineplus.gov/genetics/chromosome/8 - Genetics
  2. SERPINA1 gene 
    ... a person's risk of developing lung disease, liver disease, and other abnormalities.Many SERPINA1 gene variants change single protein building ...
    https://medlineplus.gov/genetics/gene/serpina1 - Genetics
  3. WDR35 gene 
    ... extra fingers or toes (polydactyly). Additional features include abnormalities in one or more organs, including the heart, kidneys, liver, and intestines. The severity of this condition is ...
    https://medlineplus.gov/genetics/gene/wdr35 - Genetics
  4. Asphyxiating thoracic dystrophy 
    ... the Sonic Hedgehog pathway, which may underlie the abnormalities of bone growth characteristic of asphyxiating thoracic dystrophy. Abnormal cilia in other tissues, such as the kidneys, liver, and retinas, cause the other signs and symptoms ...
    https://medlineplus.gov/.../asphyxiating-thoracic-dystrophy - Genetics
  5. NGLY1-congenital disorder of deglycosylation 
    ... with NGLY1-CDDG may also have problems with liver function. Some affected individuals have eye abnormalities, including degeneration of the nerves that carry information ...
    https://medlineplus.gov/...y1-congenital-disorder-of-deglycosylation - Genetics
  6. Mucopolysaccharidosis type I 
    ... of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia). ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-i - Genetics
  7. Mucopolysaccharidosis type III 
    ... mild dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. People with MPS III often have a slightly enlarged liver (mild hepatomegaly) or spleen (mild splenomegaly), and a ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iii - Genetics
  8. Simpson-Golabi-Behmel syndrome 
    ... defects, malformed or abnormally large kidneys, an enlarged liver and spleen (hepatosplenomegaly), and skeletal abnormalities. Additionally, the syndrome can affect the development of ...
    https://medlineplus.gov/.../condition/simpson-golabi-behmel-syndrome - Genetics
  9. GBA1 gene 
    ... body. Affected individuals can have enlargement of the liver and spleen (hepatosplenomegaly), blood cell abnormalities, and rarely, severe neurological problems. The variants occur ...
    https://medlineplus.gov/genetics/gene/gba1 - Genetics
  10. GM1 gangliosidosis 
    ... with GM1 gangliosidosis type I develop an enlarged liver and spleen (hepatosplenomegaly) and skeletal abnormalities. Affected children often have seizures and profound intellectual ...
    https://medlineplus.gov/genetics/condition/gm1-gangliosidosis - Genetics
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