- 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:207000)
- Partial anosmia (HP:0010633): Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). Evidence: TAS. (OMIM:207000)
These phenotypes are associated with the disease anosmia for isobutyric acid (OMIM:207000).