- 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. (PMID:10102904)
- Elevated circulating N,N-dimethylglycine concentration (HP:0031945): An increased concentration of N,N-dimethylglycine in the circulation. Evidence: PCS. (PMID:10102904)
- Increased muscle fatiguability (HP:0003750): An abnormal, increased fatiguability of the musculature. Evidence: PCS. (PMID:10102904)
- Elevated urinary N,N-dimethylglycine level (HP:0031946): An increased concentration of N,N-dimethylglycine in the urine. Evidence: PCS. (PMID:10102904)
- Fish odor (HP:0410020): Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals. Evidence: PCS. (PMID:10102904)
- 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:10102904)
These phenotypes are associated with the disease dimethylglycine dehydrogenase deficiency (OMIM:605850).