progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6
MONDO:0957993Mondo
Findings
No curated finding names progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
25 features
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.
- Multiple mitochondrial DNA deletionsHPOHP:0003689
- 4 of 4 reported patients
- MyopathyHPOHP:0003198
- 5 of 5 reported patients
- OphthalmoplegiaHPOHP:0000602
- 5 of 5 reported patients
- PtosisHPOHP:0000508
- 5 of 5 reported patients
- DysphagiaHPOHP:0002015
- 4 of 5 reported patients
- Limb muscle weaknessHPOHP:0003690
- 4 of 5 reported patients
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 3 of 4 reported patients
- Ragged-red muscle fibersHPOHP:0003200
- 3 of 4 reported patients
- CachexiaHPOHP:0004326
- 2 of 3 reported patients
- Gastrointestinal dysmotilityHPOHP:0002579
- 2 of 5 reported patients
- Loss of ambulationHPOHP:0002505
- 2 of 5 reported patients
- NauseaHPOHP:0002018
- 2 of 5 reported patients
Show the remaining 13
- Skeletal muscle atrophyHPOHP:0003202
- 2 of 5 reported patients
- VomitingHPOHP:0002013
- 2 of 5 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 2 of 5 reported patients
- Centrally nucleated skeletal muscle fibersHPOHP:0003687
- 1 of 4 reported patients
- AreflexiaHPOHP:0001284
- 1 of 5 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 5 reported patients
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
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2022
- Limited · G2P · Autosomal dominant · 2022