Clinical Characteristics for Families

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.