mitochondrial DNA depletion syndrome 4b
MONDO:0013350Mondo
Findings
No curated finding names mitochondrial DNA depletion syndrome 4b 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
- Juvenile onset
HPO, annotations 2026-09-02
Features
12 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.
- CachexiaHPOHP:0004326
- 2 of 2 reported patients
- Cytochrome C oxidase-negative muscle fibersHPOHP:0003688
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 2 of 2 reported patients
- Depletion of mitochondrial DNA in muscle tissueHPOHP:0009141
- 2 of 2 reported patients
- Intestinal pseudo-obstructionHPOHP:0004389
- 2 of 2 reported patients
- Multiple mitochondrial DNA deletionsHPOHP:0003689
- 2 of 2 reported patients
- Muscle weaknessHPOHP:0001324
- 2 of 2 reported patients
- Progressive external ophthalmoplegiaHPOHP:0000590
- 2 of 2 reported patients
- Ragged-red muscle fibersHPOHP:0003200
- 2 of 2 reported patients
- Sensory ataxic neuropathyHPOHP:0003434
- 2 of 2 reported patients
- Mitochondrial myopathyHPOHP:0003737
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.
- POLGHGNC:9179
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: mitochondrial DNA depletion syndrome 4b
- Also called
- mitochondrial DNA depletion syndrome type 4b