autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6

Term ID

DOID:0070759

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. https://pubmed.ncbi.nlm.nih.gov/35617047/

References

• MIM:620647
• UMLS_CUI:C5882731

Ontology

Human Disease   ( DOID:0070759 )