The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction, including:
- Capillary malformation-AV malformation syndrome
- Autoimmune lymphoproliferative syndrome
- Cardiofaciocutaneous syndrome
- Hereditary gingival fibromatosis type 1
- Neurofibromatosis type 1
- Noonan syndrome
- Costello syndrome, Noonan-like
- Legius syndrome, Noonan-like
- Noonan syndrome with multiple lentigines, formerly called LEOPARD syndrome, Noonan-like
- SYNGAP1-related intellectual disability
