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fragile X syndrome
Summary
- Synonym
-
- FRAGILE X MENTAL RETARDATION SYNDROME
- MARKER X SYNDROME
- MARTIN-BELL SYNDROME
- Definition
- A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
- Super Class
- X-linked dominant disease syndrome
External Links
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3960 | LGALS4 | galectin 4 | |
| 5226 | PGD | phosphogluconate dehydrogenase | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5335 | PLCG1 | phospholipase C gamma 1 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6383 | SDC2 | syndecan 2 | |
| 7087 | ICAM5 | intercellular adhesion molecule 5 |
Related Glycoprotein
