Term Name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6
Synonyms: PEOB6
Definition: A chronic progressive external ophthalmoplegia characterized by ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle that has_material_basis_in homozygous mutation in the RRM1 gene on chromosome 11p15.
Ontology: Human Disease [DOID:0070759]   ( DOID:0070759 )

Relationships
is a type of: chronic progressive external ophthalmoplegia