leukodystrophy POLR-related leukodystrophy https://github.com/monarch-initiative/mondo/issues/8351 MONDO:0100605 Orphanet:289494 GARD:0027288 UMLS:C5679947 4H leukodystrophy MEDGEN:1803536 A rare hypomyelinating leukodystrophy disorder in which the cause of the disease is a variation in any of the POLR genes, including POLR1C, POLR3A or POLR3B. It is characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.