Phenotypes associated with the disease combined oxidative phosphorylation deficiency 40 (OMIM:618835):
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 5/9. Onset: Infantile onset (HP:0003593). (PMID:30283131)
- Decreased liver function (HP:0001410): Reduced ability of the liver to perform its functions. Evidence: PCS. Frequency: 5/9. Onset: Infantile onset (HP:0003593). (PMID:30283131)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:30283131)
- Decreased activity of mitochondrial complex III (HP:0011924): A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria. Evidence: PCS. Frequency: 4/7. (PMID:30283131)
- Nonimmune hydrops fetalis (HP:0001790): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: PCS. Frequency: 3/9. Onset: Antenatal onset (HP:0030674). (PMID:30283131)
- Decreased activity of mitochondrial complex I (HP:0011923): A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. Evidence: PCS. Frequency: 6/7. (PMID:30283131)
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: PCS. Frequency: 1/2. Onset: Infantile onset (HP:0003593). (PMID:30283131)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: PCS. Frequency: 9/9. Onset: Infantile onset (HP:0003593). (PMID:30283131)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 7/7. Onset: Infantile onset (HP:0003593). (PMID:30283131)
- 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: PCS. (PMID:30283131)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 2/9. Onset: Infantile onset (HP:0003593). (PMID:30283131)
- Decreased activity of mitochondrial complex IV (HP:0008347): A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria. Evidence: PCS. Frequency: 6/7. (PMID:30283131)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 2/9. Onset: Antenatal onset (HP:0030674). (PMID:30283131)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: PCS. Frequency: 6/9. (PMID:30283131)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: PCS. Frequency: 3/9. (PMID:30283131)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: PCS. Frequency: 2/9. Onset: Congenital onset (HP:0003577). (PMID:30283131)
- Lactic acidosis (HP:0003128): An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. Evidence: PCS. Frequency: 9/9. Onset: Infantile onset (HP:0003593). (PMID:30283131)