- Decreased circulating carnitine concentration (HP:0003234): Concentration of carnitine in the blood circulation below the lower limit of normal. Evidence: IEA. (OMIM:212160)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. (OMIM:212160)
- Reduced muscle carnitine level (HP:0030362): A reduction in the level of carnitine in muscle tissue. Evidence: TAS. (OMIM:212160)
- 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: TAS. (OMIM:212160)
These phenotypes are associated with the disease carnitine deficiency, myopathic (OMIM:212160).