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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease leukodystrophy
Comorbidity C0007760|cerebellar dysfunction
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PubMedID- 22036172 Mutations in genes coding for pol iii subunits are a major cause of childhood-onset hypomyelinating leukodystrophies with prominent cerebellar dysfunction, oligodontia, and hypogonadotropic hypogonadism.

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