has material basis in germline mutation in POLR1A POLR-related leukodystrophy leukodystrophy, hypomyelinating, 27 https://github.com/monarch-initiative/mondo/issues/8351 https://www.malacards.org/card/leukodystrophy_hypomyelinating_27 UMLS:C5882743 OMIM:620675 GARD:0026912 MEDGEN:1844996 MONDO:0958018