Term Name: | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 |
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Synonyms: | adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, adult-onset CPEO with mitochondrial myopathy, autosomal recessive progressive external ophthalmoplegia 2, PEOB2 |
Definition: | A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3. |
Ontology: | Human Disease [DOID:0111515] ( DOID:0111515 ) |