- Diabetes mellitus (HP:0000819, a Human Phenotype Ontology term): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: IEA. (OMIM:271500)
- Ascites (HP:0001541, a Human Phenotype Ontology term): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: IEA. (OMIM:271500)
- Anomalous splenoportal venous system (HP:0005201, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:271500)
- Hepatic fibrosis (HP:0001395, a Human Phenotype Ontology term): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: IEA. (OMIM:271500)
- Cirrhosis (HP:0001394, a Human Phenotype Ontology term): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: IEA. (OMIM:271500)
- Chronic hepatic encephalopathy (HP:0007111, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:271500)
- Hyperammonemia (HP:0001987, a Human Phenotype Ontology term): An increased concentration of ammonia in the blood. Evidence: IEA. (OMIM:271500)
- 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: TAS. (OMIM:271500)
- Splenomegaly (HP:0001744, a Human Phenotype Ontology term): Abnormal increased size of the spleen. Evidence: IEA. (OMIM:271500)
These phenotypes are associated with the disease splenoportal vascular anomalies (OMIM:271500, an entry in Online Mendelian Inheritance in Man).