Term Name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4
Synonyms: adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency, adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency, autosomal recessive progressive external ophthalmoplegia 4, PEOB4
Definition: A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1.
Ontology: Human Disease [DOID:0111516]   ( DOID:0111516 )

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