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ENPolr3-Related Leukodystrophy
Alias:
4h Leukodystrophy
Polr-Related Leukodystrophy
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Polr3-Related Leukodystrophy, also known as 4h leukodystrophy, is related to leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism and leukodystrophy. An important gene associated with Polr3-Related Leukodystrophy is POLR3B (RNA Polymerase III Subunit B), and among its related pathways/superpathways are RNA Polymerase III Transcription Initiation and Cytosolic sensors of pathogen-associated DNA. Affiliated tissues include thyroid and eye, and related phenotypes are ataxia and dysarthria
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