(Q32147669)

English

congenital generalized lipodystrophy type 1

A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.

  • Brunzell syndrome AGPAT2-related
  • Berardinelli-Seip Congenital Lipodystrophy, Type 1
  • BSCL1
  • CGL1
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