Term Name: | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 |
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Synonyms: | autosomal dominant progressive external ophthalmoplegia 4, PEOA4 |
Definition: | A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3. |
Ontology: | Human Disease [DOID:0111525] ( DOID:0111525 ) |