Clinical features
Mutations in RORA cause an autosomal dominant disorder characterized mainly by neurodevelopmental issues, including mild to severe intellectual disability, autism spectrum disorder, and cerebellar ataxia and atrophy.
Prevalence
The disorder is rare, and only about 20 genetic alterations of RORA, including the 13 reported by Guissart et al. (2018), have been identified worldwide thus far.
Inheritance
Point mutations or copy number variants (CNV) are transmitted according to a dominant mode of inheritance or occur de novo.