- Abnormal circulating polysaccharide concentration (HP:0011012): A deviation from the normal concentration of a polysaccharide in the blood circulation. Evidence: TAS. (OMIM:263600)
- 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: TAS. (OMIM:263600)
These phenotypes are associated with the disease polysaccharide, storage of unusual (OMIM:263600).