Genetic change (also called mutation or variant) in both copies of POLR3GL gene has been reported in individuals with short stature and an absence of some teeth. Other characteristics include bone anomalies, motor delay or global developmental delay, and some recognizable facial features. Not all individuals with POLR3GL variants have these features.
The condition is inherited in an autosomal recessive manner. This means that two healthy parents each carry one copy of POLR3GL gene with a variant. When their child inherited both copies with a variant, he will develop POLR3GL-related disorder. If both parents carry a defective copy of POLR3GL gene, the probability to have an affected child is 25% for each pregnancy.
POLR3GL-related disorder is rare. To date, 4 individuals were described.
POLR3GL