congenital generalized lipodystrophy type 1 (Q32147669)
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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
| Language | Label | Description | Also known as |
|---|---|---|---|
| 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. |
|
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Identifiers
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1 reference