mitochondrial DNA depletion syndrome 17
MONDO:0032815Mondo
Findings
No curated finding names mitochondrial DNA depletion syndrome 17 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
- Death in childhood
HPO, annotations 2026-09-02
Features
16 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.
- AcidosisHPOHP:0001941
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- ChoreaHPOHP:0002072
- 1 of 1 reported patient · Infantile onset
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 1 reported patient
- Decreased circulating citrulline concentrationHPOHP:0003572
- 1 of 1 reported patient
- DyskinesiaHPOHP:0100660
- 1 of 1 reported patient · Infantile onset
- Epilepsia partialis continuaHPOHP:0012847
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HemiballismusHPOHP:0100248
- 1 of 1 reported patient · Infantile onset
- Hepatic failureHPOHP:0001399
- 1 of 1 reported patient
Show the remaining 4
- HyperammonemiaHPOHP:0001987
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Spastic tetraparesisHPOHP:0001285
- 1 of 1 reported patient
- Status epilepticusHPOHP:0002133
- 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.
- MRM2HGNC:16352
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of