autosomal recessive progressive external ophthalmoplegia

Findings

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

Definition

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

• autosomal recessive disease
• progressive external ophthalmoplegia

Narrower terms (2)

• progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
• progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

Resolves to: autosomal recessive progressive external ophthalmoplegia

Also called

arPEOprogressive external ophthalmoplegia, autosomal recessive