Human genes for autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 [DOID:0111520]
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 with mitochondrial DNA deletions 3, DOID:0111520, PEOA3, autosomal dominant progressive external ophthalmoplegia 3