Clinical features
Autosomal recessive mutations in the TAF6 gene cause Alazami-Yuan syndrome, which is characterized by intellectual disability, delayed psychomotor development, and dysmorphic features.
Prevalence
The prevalence of TAF6-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
TAF6-related disorders are inherited in an autosomal recessive manner.