mitochondrial DNA depletion syndrome, hepatocerebrorenal form
MONDO:0018197Mondo
Findings
No curated finding names mitochondrial DNA depletion syndrome, hepatocerebrorenal form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- TWNKHGNC:1160
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: mitochondrial DNA depletion syndrome, hepatocerebrorenal form
- Also called
- mtDNA depletion syndrome, hepatocerebrorenal form