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noonan-syndrome
Noonan Syndrome
Noonan syndrome is caused by germline RAS-MAPK pathway mutations (PTPN11 ~50%, SOS1, RAF1, KRAS, LZTR1, others); short stature, pulmonary stenosis, hypertrophic cardiomyopathy, and facial dysmorphia; elevated JMML/leukemia risk; MEK inhibitors in clinical trials.
Entry Metadata
| Field | Value |
|---|---|
| ID | noonan-syndrome |
| Name | Noonan Syndrome |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 07-system |