All individuals with POLR3GL-related disorder share the following features:
• Short stature
• Absence of some teeth (oligodontia)
• Motor delay or global developmental delay
Some individuals also have one or many of the following features:
• Growth delay during pregnancy (intrauterine growth retardation)
• Bone anomalies (endosteal sclerosis)
• Decreased muscle tone (hypotonia)
• Recognizable facial features
• Cardiac anomalies (bicuspid aortic valve, atrial septal defect)
• Club feet
• Delayed puberty
• Hearing loss
• Premature osteoarthritis of the hip joint (coxarthrosis)
Not all individuals with POLR3GL-related disorder have the same clinical presentation, depending on the specific change in POLR3GL gene.
POLR3GL