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MIRAGE
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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51654 | Glypican-3 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8CFZ4 | Glypican-3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000465 | Webbed neck |
| HP:0000470 | Short neck |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000767 | Pectus excavatum |
| HP:0000772 | Abnormal rib morphology |
| HP:0000776 | Congenital diaphragmatic hernia |
| HP:0001162 | Postaxial hand polydactyly |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
