- Decreased liver function (HP:0001410, a Human Phenotype Ontology term): Reduced ability of the liver to perform its functions. Evidence: PCS. Frequency: 0/3. (PMID:27876694)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:27876694)
These phenotypes are associated with the disease maleylacetoacetate isomerase deficiency (OMIM:617596, an entry in Online Mendelian Inheritance in Man).