[2] WR is associated with abnormalities in bone maturation, and lipids and hormone metabolism.

[3] Affected individuals exhibit intrauterine and postnatal growth retardation, leading to short stature and an aged appearance from birth.

They have physical abnormalities including a large head (macrocephaly), sparse hair, prominent scalp veins, inward-folded eyelid (entropion), widened anterior fontanelles, hollow cheeks (malar hypoplasia), general loss of fat tissues under the skin (lipoatrophy), delayed tooth eruption, abnormal hair pattern (hypotrichosis), beaked nose, mild to severe intellectual disabilities, and dysmorphism.

[6] This gene encodes the largest subunit (A) of the DNA directed RNA polymerase III.

[7] Mutations in this gene have been associated with hypogonadotropic hypogonadism and hypomyelinating leukodystrophy with or without oligodontia.