Clinical features
A mutation in SMG9 gene can lead to birth defects in humans. These birth defects may involve the brain and the heart and can cause deformities in the shape of the face and the structure of the hands and feet. Birth defects caused by SMG9 mutations are collectively called multiple congenital anomaly syndrome.
Prevalence
Largely unknown due to limited data.
Inheritance
Mutations of this gene can be passed on to the next generation in an autosomal recessive manner. This means that if both parents carry a mutation involving this gene (usually without displaying the disease), there is a greater chance that their children are going to inherit the mutations from both parents and display the disease. This is especially important to consider in consanguineous marriage, where the chance of both parents having the same mutation and passing it is greater.