Mondo Description Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.

Uniprot Description An autosomal recessive neurodegenerative disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism.