POLR3A and leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism: Although we failed to find a candidate gene or a genetic link with the neurological manifestations, the variant in POLR3A is important because bi-allelic mutations on this gene are associated with hypomyelinating leukodystrophy 7 (HLD7) [18].