label: Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia
label_lc: noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
description: 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.