- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:251945)
- 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:251945)
- Mitochondrial myopathy (HP:0003737): A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers. Evidence: IEA. (OMIM:251945)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: IEA. (OMIM:251945)
- Exercise intolerance (HP:0003546): A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. Evidence: IEA. (OMIM:251945)
These phenotypes are associated with the disease mitochondrial myopathy with a defect in mitochondrial-protein transport (OMIM:251945).