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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:0009101 | Submucous cleft lip |
| HP:0009381 | Short finger |
| HP:0009882 | Short distal phalanx of finger |
| HP:0009908 | Anterior creases of earlobe |
| HP:0011330 | Metopic synostosis |
| HP:0011675 | Arrhythmia |
| HP:0012471 | Thick vermilion border |
| HP:0100259 | Postaxial polydactyly |
