Noonan Syndrome-Like Disorder

**Semantic type:** Disease or Syndrome

**Definition:** A syndrome caused by germline mutations in the CBL gene. It manifests with clinical features resembling Noonan syndrome (developmental delay, craniofacial abnormalities, and congenital heart defects). It is associated with an increased risk of developing juvenile myelomonocytic leukemia.

**Synonyms:** - CBL Noonan Syndrome - CBL Syndrome