Term Name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6
Synonyms: autosomal dominant progressive external ophthalmoplegia 6, DNA2-related mitochondrial DNA deletion syndrome, mitochondrial DNA deletion syndrome with limb-girdle weakness, mitochondrial DNA deletion syndrome with progressive myopathy, mtDNA deletion syndrome with limb-girdle weakness, mtDNA deletion syndrome with progressive myopathy, PEOA6
Definition: A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3.
Ontology: Human Disease [DOID:0111519]   ( DOID:0111519 )

Relationships
is a type of: autosomal dominant disease chronic progressive external ophthalmoplegia