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Biallelic variants in POLR3GL have been associated with two overlapping disorders. Shared features include oligodontia and short stature.

Three individuals additionally had endosteal hyperostosis, mild facial dysmorphisms and motor delay. A single individual rather had significant developmental delay and distinctive facial features similar to those seen in neonatal progeroid syndrome.

The condition is inherited in an autosomal recessive manner. Prevalence is unknown, but POLR3GL-related disorder is thought to be rare. To date, 4 individuals, including a pair of monozygotic twins, were described.