progressive external ophthalmoplegia with mitochondrial DNA deletions
MONDO:0000090Mondo
Findings
No curated finding names progressive external ophthalmoplegia with mitochondrial DNA deletions yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
1 gene
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.
- RRM1HGNC:10451
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
- Narrower terms (8)
- autosomal dominant progressive external ophthalmoplegia
- mitochondrial DNA deletion syndrome with progressive myopathy
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
- progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6
Other names
1 name
Resolves to: progressive external ophthalmoplegia with mitochondrial DNA deletions
- Also called
- progressive external ophthalmoplegia with mtDNA deletions