NCIt definition : An inherited condition caused by autosomal dominant mutation(s) in the CBL gene, encoding
E3 ubiquitin-protein ligase CBL. The condition resembles Noonan syndrome 1 and is
characterized by facial dysmorphism, a wide spectrum of cardiac disease, reduced growth,
variable cognitive deficits, and ectodermal and musculoskeletal anomalies. Affected
individuals may have an increased risk for certain malignancies, particularly juvenile
myelomonocytic leukemia.;