(Q32147684)
English
congenital generalized lipodystrophy type 2
A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.
- Berardinelli-Seip congenital lipodystrophy type 2
- Brunzell syndrome BSCL2-related
- CGL2
- congenital lipoatrophic diabetes
- total lipodystrophy and acromegaloid gigantism
- Berardinelli-Seip syndrome
Statements
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Identifiers
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