- Hyperisoleucinemia (HP:0010913): The concentration of isoleucine in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. Onset: Neonatal onset (HP:0003623). (PMID:23086801)
- 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:23086801)
- Hyperleucinemia (HP:0010911): The concentration of leucine in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. Onset: Neonatal onset (HP:0003623). (PMID:23086801)
These phenotypes are associated with the disease maple syrup urine disease, mild variant (OMIM:615135).