Clinical features
Mutations in the DCAF17 gene may cause Woodhouse-Sakati syndrome, a disorder characterized by diminished function of the gonads (testes or ovaries) resulting in decreased production of sex hormones, alopecia (baldness), deafness, diabetes mellitus, intellectual disability, and movement disorders.

The expected disease burden of DCAF17-related conditions is estimated to be 2.41 per 100,000 in Saudi Arabia.

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.