mitochondrial DNA depletion syndrome 18
MONDO:0032932Mondo
Findings
No curated finding names mitochondrial DNA depletion syndrome 18 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
17 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.
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Axonal degenerationHPOHP:0040078
- 1 of 1 reported patient
- ClonusHPOHP:0002169
- 1 of 1 reported patient
- Distal amyotrophyHPOHP:0003693
- 1 of 1 reported patient
- Distal muscle weaknessHPOHP:0002460
- 1 of 1 reported patient · Childhood onset
- Elevated urinary quinolinic acid levelHPOHP:6000335
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- FallsHPOHP:0002527
- 1 of 1 reported patient · Childhood onset
- Foot dorsiflexor weaknessHPOHP:0009027
- 1 of 1 reported patient
- Hand muscle atrophyHPOHP:0009130
- 1 of 1 reported patient
- LacticaciduriaHPOHP:0003648
- 1 of 1 reported patient
- Microcytic anemiaHPOHP:0001935
- 1 of 1 reported patient
Show the remaining 5
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient · Juvenile onset
- Reduced forced vital capacityHPOHP:0032341
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- Tongue fasciculationsHPOHP:0001308
- 1 of 1 reported patient
- Weakness of facial musculatureHPOHP:0030319
- 1 of 1 reported patient
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.
- SLC25A21HGNC:14411
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of