phosphoenolpyruvate carboxykinase deficiency, mitochondrial
MONDO:0009864Mondo
Findings
No curated finding names phosphoenolpyruvate carboxykinase deficiency, mitochondrial 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.
- PCK2HGNC:8725
- Limited · Ambry Genetics · Autosomal recessive · 2019
Where it sits
Other names
1 name
Resolves to: phosphoenolpyruvate carboxykinase deficiency, mitochondrial
- Also called
- PEPCK deficiency, mitochondrial