- Elevated circulating creatine kinase activity (HP:0003236, a Human Phenotype Ontology term): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 5/9. (PMID:30283131)
- Decreased liver function (HP:0001410, a Human Phenotype Ontology term): Reduced ability of the liver to perform its functions. Evidence: PCS. Frequency: 5/9. (PMID:30283131)
- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 1/1. (PMID:30283131)
- Decreased activity of mitochondrial complex III (HP:0011924, a Human Phenotype Ontology term): A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria. Evidence: PCS. (PMID:30283131)
- Nonimmune hydrops fetalis (HP:0001790, a Human Phenotype Ontology term): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: IEA. Frequency: 3/9. Onset: Antenatal onset (HP:0030674, a Human Phenotype Ontology term). (PMID:30283131)
- Decreased activity of mitochondrial complex I (HP:0011923, a Human Phenotype Ontology term): A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. Evidence: PCS. (PMID:30283131)
- Decreased circulating cortisol level (HP:0008163, a Human Phenotype Ontology term): Abnormally reduced concentration of cortisol in the blood. Evidence: PCS. Frequency: 1/2. (PMID:30283131)
- Anemia (HP:0001903, a Human Phenotype Ontology term): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 7/7. (PMID:30283131)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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: PCS. (PMID:30283131)
- Hypoglycemia (HP:0001943, a Human Phenotype Ontology term): A decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 2/9. (PMID:30283131)
- Cardiomyopathy (HP:0001638, a Human Phenotype Ontology term): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: PCS. Frequency: 9/9. (PMID:30283131)
- Decreased activity of mitochondrial complex IV (HP:0008347, a Human Phenotype Ontology term): A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria. Evidence: PCS. (PMID:30283131)
- Intrauterine growth retardation (HP:0001511, a Human Phenotype Ontology term): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 2/9. Onset: Fetal onset (HP:0011461, a Human Phenotype Ontology term). (PMID:30283131)
- Neonatal death (HP:0003811, a Human Phenotype Ontology term): Death within the first 28 days of life. Evidence: PCS. Frequency: 3/9. (PMID:30283131)
- Death in infancy (HP:0001522, a Human Phenotype Ontology term): Death within the first 24 months of life. Evidence: PCS. Frequency: 6/9. (PMID:30283131)
- Premature birth (HP:0001622, a Human Phenotype Ontology term): The birth of a baby of less than 37 weeks of gestational age. Evidence: PCS. Frequency: 2/9. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:30283131)
- Lactic acidosis (HP:0003128, a Human Phenotype Ontology term): An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. Evidence: PCS. Frequency: 9/9. (PMID:30283131)
These phenotypes are associated with the disease combined oxidative phosphorylation deficiency 42 (OMIM:618839, an entry in Online Mendelian Inheritance in Man).