eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | fragile x syndrome |
| Comorbidity | C0679466|cognitive deficits |
| Sentences | 1 |
| 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). |
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