This condition has been associated with mutations in the POLR3A gene. This gene is located on the long arm of chromosome 10 (10q22.3). This gene encodes the largest subunit (A) of the DNA directed RNA polymerase III. This subunit includes the catalytic site of RNA polymerase III. Mutations in this gene have been associated with hypogonadotropic hypogonadism and hypomyelinating leukodystrophy with or without oligodontia.
Wiedemann–Rautenstrauch syndrome
Progeria
Beckwith–Wiedemann syndrome
Weismann-Netter–Stuhl syndrome
Daentl Townsend Siegel syndrome
Wiedemann–Steiner syndrome
Prader–Willi syndrome
Bardet–Biedl syndrome