- Decreased liver function (HP:0001410): Reduced ability of the liver to perform its functions. Evidence: IEA. (OMIM:602199)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: IEA. (OMIM:602199)
- Rhabdomyolysis (HP:0003201): Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. Evidence: IEA. (OMIM:602199)
- Dehydration (HP:0001944). Evidence: IEA. (OMIM:602199)
- Myoglobinuria (HP:0002913): Presence of myoglobin in the urine. Evidence: IEA. (OMIM:602199)
- 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:602199)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: IEA. (OMIM:602199)
- Metabolic acidosis (HP:0001942): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: IEA. (OMIM:602199)
These phenotypes are associated with the disease medium chain 3-ketoacyl-Coa thiolase deficiency (OMIM:602199).