The main clinical features of individuals with a Noonan syndrome are distinctive facial features, including a large head, widely spaced eyes with down-slanting eyelids, and low-set ears; congenital heart disease; delayed growth and short stature; sunken or protruding chest, and/or curvature of the spine; variable levels of learning difficulties.
The main clinical feature of people with a schwannomatosis-related LZTR1 variant are the development of multiple schwannoma tumours in the nervous system. Approximately 5% of people with a schwannomatosis-related LZTR1 variant will develop a schwannoma on the nerve in the brain that affects hearing, although this is much more strongly associated with a mutation in the NF2 gene. This is one reason why it can be difficult to know which form of schwannomatosis someone has without genetic testing.
LZTR1