Clinical features
Autosomal recessive mutations in the TRMT1 gene cause intellectual developmental disorder-68 (MRT68; MIM: #618302), which is characterized by intellectual disability, developmental delay, and mild facial dysmorphism. Other variable clinical features include epilepsy, hypotonia, and structural brain abnormalities.
Prevalence
The prevalence of MRT68 cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
MRT68 is inherited in an autosomal recessive manner.