DISEASES

Disease-gene associations mined from literature

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 TWNK on chromosome 10q24.31.

Synonyms:  autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3,  DOID:0111520,  autosomal dominant progressive external ophthalmoplegia 3,  PEOA3