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MIRAGE
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
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000294 | Low anterior hairline |
| HP:0000147 | Polycystic ovaries |
| HP:0000336 | Prominent supraorbital ridges |
| HP:0000141 | Amenorrhea |
| HP:0000303 | Mandibular prognathia |
| HP:0000819 | Diabetes mellitus |
| HP:0000158 | Macroglossia |
| HP:0001999 | Abnormal facial shape |
| HP:0001249 | Intellectual disability |
| HP:0008665 | Clitoral hypertrophy |
