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]. The gene discussed is POLR3A; the disease is Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism.