NSUN2 and Dubowitz syndrome: Similarly, Dubowitz syndrome—a rare autosomal recessive disorder that clinically manifests as microcephaly, abnormal facial phenotypes, mental retardation and short stature—has been linked to a homozygous mutation in the splice acceptor site of NSUN2 exon 6 that reduces mRNA stability and NSUN2 protein levels, resulting in diminished methylation of target RNAs [165].