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Glossary for Berardinelli-Seip congenital lipodystrophy, type 2

  • Brunzell syndrome: A rare recessively inherited syndrome characterized by a lack of skin fat (Seip syndrome), cystic angiomatosis of the long bones which can lead to fractures.
  • Death: The cessation of life
  • Enlarged hands: abnormal fluid collection in the interstial tissue
  • Idiopathic liver cirrhosis: Cirrhosis is defined histologically as a diffuse hepatic process characterized by fibrosis and the conversion of normal liver architecture into structurally abnormal nodules. The progression of liver injury to cirrhosis may occur over weeks to years.
  • Large feet: Large size of the feet
  • Mental problems: Symptoms affecting judgement, thought or intelligence.


 » Next page: Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency

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