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Diseases List


Berardinelli-Seip congenital lipodystrophy

Berardinelli-Seip congenital lipodystrophy is a rare condition characterized by a lack of fatty (adipose) tissue in the body. This lack of adipose tissue means that fats must be stored elsewhere in the body, such as in the liver and muscles.

Associated Genes

Gene Name Chromosome number
CAV1 7
PTRF 17