Clinical features
Mutations in UNC80 cause a disorder characterized by severe developmental delay, intellectual disability, speech impairment, stiffness or floppy limbs that become stiff as the disease progresses, failure to thrive, abnormal eye movement, and facial dysmorphia.
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 marriages, where the chance of both parents having the same mutation and passing it is greater.