Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - CBL Mutation-Associated Syndrome - CBL Syndrome - CBL Syndrome - NSLL