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congenital generalized lipodystrophy type 2
Summary
- Synonym
-
- Berardinelli-Seip congenital lipodystrophy type 2
- Berardinelli-Seip syndrome
- Brunzell syndrome BSCL2-related
- CGL2
- congenital lipoatrophic diabetes
- total lipodystrophy and acromegaloid gigantism
- Definition
- A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.
- Super Class
- congenital generalized lipodystrophy
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000998 | Hypertrichosis |
| HP:0003247 | Overgrowth of external genitalia |
| HP:0000842 | Hyperinsulinemia |
| HP:0002155 | Hypertriglyceridemia |
| HP:0008887 | Adipose tissue loss |
| HP:0001263 | Global developmental delay |
