- Decreased body weight (HP:0004325): Abnormally low body weight. Evidence: PCS. Frequency: 2/2. (PMID:36239646)
- Hyperisoleucinemia (HP:0010913): The concentration of isoleucine in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:36239646)
- Polyphagia (HP:0002591): A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. Evidence: PCS. Frequency: 2/2. (PMID:36239646)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/2. (PMID:36239646)
- Hyperleucinemia (HP:0010911): The concentration of leucine in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:36239646)
- Hypervalinemia (HP:0010910): The concentration of valine in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:36239646)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 2/2. (PMID:36239646)
- Mild global developmental delay (HP:0011342): A mild delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 2/2. (PMID:36239646)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. Frequency: 2/2. (PMID:36239646)
- Hyperammonemia (HP:0001987): An increased concentration of ammonia in the blood. Evidence: PCS. Frequency: 2/2. (PMID:36239646)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: PCS. Frequency: 2/2. (PMID:36239646)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:36239646)
- Increased blood urea nitrogen (HP:0003138): An increased amount of nitrogen in the form of urea in the blood. Evidence: PCS. Frequency: 2/2. (PMID:36239646)
These phenotypes are associated with the disease hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 (OMIM:620085).