Clinical features
Mutations in DDX59 cause a clinically recognizable autosomal-recessive disorder, Orofaciodigital syndrome Type V, which is characterized by variable combination of digital/midline abnormalities, distinctive facial features, and intellectual disability.
Prevalence
The prevalence of DDX59-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
DDX59-related disorder is inherited in an autosomal recessive manner.