Clinical features
Mutations in the TAF6 genemay cause Alazami-Yuan syndrome, a disorder characterized by intellectual disability, delayed development, abnormally small head, and dysmorphic features.
Prevalence
The prevalence of TAF6-related conditions cannot be accurately estimated due to the limited number of cases reported.
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.