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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:0001263 | Global developmental delay |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001305 | Dandy-Walker malformation |
| HP:0001374 | Congenital hip dislocation |
| HP:0001522 | Death in infancy |
| HP:0001537 | Umbilical hernia |
| HP:0001539 | Omphalocele |
| HP:0001561 | Polyhydramnios |
| HP:0001608 | Abnormality of the voice |
| HP:0001609 | Hoarse voice |
