Clinical features
Autosomal recessive mutations in the TSEN15 gene cause pontocerebellar hypoplasia type 2F, which is characterized by pontocerebellar hypoplasia, progressive microcephaly, intellectual disability, motor delay, and seizures.
Prevalence
The prevalence of TSEN15-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
TSEN15-related disorders are inherited in an autosomal recessive manner.