Phenotypes associated with the disease phosphoenolpyruvate carboxykinase deficiency, mitochondrial (OMIM:261650):
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: IEA. (OMIM:261650)
- Hepatic failure (HP:0001399). Evidence: IEA. (OMIM:261650)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:261650)
- Renal steatosis (HP:0000799): Abnormal fat accumulation in the kidneys. Evidence: IEA. (OMIM:261650)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: IEA. (OMIM:261650)
- Impaired gluconeogenesis (HP:0005959): An impairment of gluconeogenesis. Evidence: IEA. (OMIM:261650)