autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Disease
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
- Definition
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31.
- Synonyms
- autosomal dominant progressive external ophthalmoplegia 3
- PEOA3
- Cross References
- Parent Terms
- Child Terms
- None
- Sources of Associations
Associated Genes
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