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POLR3A-related disorder

MONDO:0700276

Disorder in which the cause of disease is a variation in the POLR3A gene.

2 clinical trials for this condition and its sub-types.

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Sub-types

Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (2) Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome (0) Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome (0) Odontoleukodystrophy (0) Tremor-ataxia-central hypomyelination syndrome (0) Wiedemann-Rautenstrauch syndrome (0)

Broader categories

Disease (618) Hereditary disease (172) Human disease (14) Disease of genetic or genomic mechanism (2) Disease by etiologic mechanism (0)
Trials to join now! 1 Completed 1
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  • Could a single DNA test solve the mystery of rare brain diseases in kids?

    Knowledge-focused Completed

    This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…

    Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused

    Last updated Jun 27, 2026 07:56 UTC

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