POLR-related leukodystrophy
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.
MONDO:0019046
leukodystrophy
is_a
4H leukodystrophy
exact
SPBC1289.07c SPBC651.08c SPAC22A12.05 SPBC4C3.05c SPAC4G9.08c