autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
Disease
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
- Definition
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3.
- Synonyms
- autosomal dominant progressive external ophthalmoplegia 5
- PEOA5
- Cross References
- Parent Terms
- Child Terms
- None
- Sources of Associations
Associated Genes
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