Human genes for autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [DOID:0111517]
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in SLC25A4 on chromosome 4q35.1.
Synonyms: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2, DOID:0111517, autosomal dominant progressive external ophthalmoplegia 2, PEOA2