autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2

Term ID

DOID:0111517

Synonyms

• autosomal dominant progressive external ophthalmoplegia 2
• PEOA2

Definition

A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1. https://www.ncbi.nlm.nih.gov/pubmed/10926541

References

• OMIM:609283

Ontology

Human Disease   ( DOID:0111517 )