POLR3GL

Clinical Characteristics

Two distinct phenotypes have been described, depending on the type of variant affecting POLR3GL.

All individuals with biallelic POLR3GL variants share the following features:
•    Short stature
•    Oligodontia

Individuals with biallelic variants affecting splicing have the following features:
•    Endosteal sclerosis (3/3)
•    Mild dysmorphisms (3/3) including:
         o    Upslanting palpebral fissures
         o    Thin lips
         o    Downturned corners of the mouth
         o    Flat philtrum
         o    Long columella
         o    Retrognathia
•    Motor delay (3/3)
•    Club feet (3/3)
•    Delayed puberty (2/3)
•    Hearing loss (1/3)
•    Premature coxarthrosis (1/3)

The only individual with a homozygous loss-of-function variant has the following features:
•    Intrauterine growth retardation
•    Recognizable dysmorphisms:
        o    Prominent forehead
        o    Prominent scalp veins
        o    Persistent fontanel
        o    Triangular face
•    Significant developmental delay
•    Hypotonia
•    Mild ventriculomegaly
•    Bicuspid aortic valve
•    Atrial septal defect type II
•    Choanal atresia