mitochondrial DNA depletion syndrome 19
MONDO:0033545Mondo
Findings
No curated finding names mitochondrial DNA depletion syndrome 19 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
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.
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Depletion of mitochondrial DNA in muscle tissueHPOHP:0009141
- 1 of 1 reported patient
- DyskinesiaHPOHP:0100660
- 1 of 1 reported patient
- Focal-onset seizureHPOHP:0007359
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- Hydrocele testisHPOHP:0000034
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- HypospadiasHPOHP:0000047
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- Infantile spasmsHPOHP:0012469
- 1 of 1 reported patient
- Microcytic anemiaHPOHP:0001935
- 1 of 1 reported patient
Show the remaining 4
- Multifocal epileptiform dischargesHPOHP:0010841
- 1 of 1 reported patient
- MyoclonusHPOHP:0001336
- 1 of 1 reported patient
- SpasticityHPOHP:0001257
- 1 of 1 reported patient
- TetraparesisHPOHP:0002273
- 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.
- SLC25A10HGNC:10980
- Moderate · Ambry Genetics · Autosomal recessive · 2017
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of