Clinical features
Mutations in the TAF6 genemay cause FAM149B1-related ciliopathy, which is characterized by intellectual disability, developmental delay, defect in the control of voluntary, purposeful eye movement, drooping of the upper eyelid, extra fingers or toes, and other more variable features.
Prevalence
The prevalence of FAM149B1-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.