A mutation in SMG8 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. Mutations in SMG8 may also lead to a delay in the developmental milestones of the child (e.g. delayed walking, delayed speaking), variable degrees of short height, and possibly a small head (i.e. microcephaly).
Largely unknown due to limited data.
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.