Phenotypes associated with the disease anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism (OMIM:206400):
- Elevated urinary delta-aminolevulinic acid (HP:0003163): An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. Evidence: IEA. (OMIM:206400)
- 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:206400)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: IEA. (OMIM:206400)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: IEA. (OMIM:206400)
- Nonspherocytic hemolytic anemia (HP:0001930). Evidence: IEA. (OMIM:206400)