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POLR3-related leukodystrophy

MONDO:0700282

Hypomyelinating leukodystrophy disorder in which is caused of the disease is a variation in any of the genes encoding POLR3 (RNA polymerase III) subunits, including POLR3A, POLR3B and POLR1C. This disorder 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.

2 clinical trials for this condition and its sub-types, 0 tagged with POLR3-related leukodystrophy itself.

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↑ POLR-related leukodystrophy (2)

Sub-types of POLR3-related leukodystrophy

Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 2 trials
4 sub-types
- Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome 0 trials
- Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome 0 trials
- Odontoleukodystrophy 0 trials
- Tremor-ataxia-central hypomyelination syndrome 0 trials
Hypomyelinating leukodystrophy 11 0 trials
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 trials
Leukodystrophy, hypomyelinating, 21 0 trials

Including sub-types (2) Tagged with POLR3-related leukodystrophy (0)

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