eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | noonan syndrome |
| Comorbidity | C0025958|microcephaly |
| Sentences | 1 |
| PubMedID- 22558107 | The activity of the mglur pathway is regulated by several pathway components responsible for syndromic asds (indicated by asterisks), including nf1 (neurofibromatosis type 1), ras/erk cascade members (cardiofaciocutaneous/noonan syndromes), pten (asd with microcephaly), tsc1 and tsc2 (tuberous sclerosis complex), fmrp (fragile x mental retardation syndrome), and ube3a (angelman's syndrome). |
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