progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

Findings

No curated finding names progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Middle age onset · Progressive · Intermediate young adult onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
• progressive external ophthalmoplegia with mitochondrial DNA deletions

Resolves to: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

Also called

progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions