Leopard Syndrome 2 (LPRD2)

Leopard Syndrome 2, also known as noonan syndrome with multiple lentigines 2, is related to cholestasis-lymphedema syndrome and hypotrichosis-lymphedema-telangiectasia-renal defect syndrome. An important gene associated with Leopard Syndrome 2 is RAF1 (Raf-1 Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways is Endothelin pathways. Affiliated tissues include skin and heart, and related phenotypes are short neck and depressed nasal bridge