POLR-related leukodystrophy
MONDO:0100605A 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.
Also known as: 4H leukodystrophy
2 clinical trials for this condition and its sub-types, 0 tagged with POLR-related leukodystrophy itself.
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Sub-types of POLR-related leukodystrophy
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POLR3-related leukodystrophy 0 trials · 2 incl. sub-types
4 sub-types
- Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 2 trials Sub-types →
- Hypomyelinating leukodystrophy 11 0 trials
- Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 trials
- Leukodystrophy, hypomyelinating, 21 0 trials
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Leukodystrophy, hypomyelinating, 27 0 trials