eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | fragile x syndrome |
| Symptom | C0679466|cognitive deficits |
| Sentences | 2 |
| PubMedID- 25521380 | cognitive deficits in fragile x syndrome (fxs) are attributed to molecular abnormalities of the brain's vast and heterogeneous synapse populations. |
| PubMedID- 25956630 | Silencing of the fragile x mental retardation 1 (fmr1) gene leads to loss of expression of fmrp and upregulated metabotropic glutamate receptor 5 (mglur5) signaling resulting in the multiple physical and cognitive deficits associated with fragile x syndrome (fxs). |
Page: 1