Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|
| 248 | ALPI | alkaline phosphatase, intestinal | |
| 250 | ALPP | alkaline phosphatase, placental | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 414 | ARSD | arylsulfatase D | |
| 847 | CAT | catalase | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1738 | DLD | dihydrolipoamide dehydrogenase | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 3423 | IDS | iduronate 2-sulfatase |
Related Glycoprotein
