Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

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

Also known as: HLD8, POLR3B leukodystrophy, endosteal sclerosis-cerebellar hypoplasia syndrome, leukodystrophy caused by mutation in POLR3B, cerebellar hypoplasia with endosteal sclerosis, leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism

1 clinical trial for this condition and its sub-types.