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Simpson-Golabi-Behmel syndrome type 1
Summary
- Synonym
-
- DGSX Golabi-Rosen syndrome
- Golabi-Rosen syndrome
- SGB syndrome
- Sara Angers syndrome
- Simpson dysmorphia syndrome
- X-linked dysplasia gigantism syndrome
- bulldog syndrome
- Definition
- A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26.
- Super Class
- X-linked recessive disease syndrome
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000175 | Cleft palate |
| HP:0000204 | Cleft upper lip |
| HP:0000256 | Macrocephaly |
| HP:0000280 | Coarse facial features |
| HP:0000286 | Epicanthus |
| HP:0000303 | Mandibular prognathia |
| HP:0000316 | Hypertelorism |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000431 | Wide nasal bridge |
| HP:0000463 | Anteverted nares |
