Clinical features
A mutation in MYO18B gene can lead to birth defects in humans. These birth defects include weakness in feeding early in life, muscle weakness (especially in the legs) later in life, abnormal fusion of the vertebrae in the neck or back, variable mild deformities of the face, and possibly short stature.
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.
MYO18B