- Lethargy (HP:0001254, a Human Phenotype Ontology term): A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks. Evidence: IEA. (OMIM:215600)
- Fulminant hepatitis (HP:0004787, a Human Phenotype Ontology term): Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice. Evidence: PCS. Frequency: 1/5. (PMID:9011570)
- Increased level of propylene glycol in blood (HP:0410069, a Human Phenotype Ontology term): An increase in the level of propylene glycol in the blood. Evidence: PCS. (PMID:3426740)
- 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: PCS. Frequency: 1/1. (PMID:9011570)
- Increased level of L-fucose in urine (HP:0410067, a Human Phenotype Ontology term): An increase in the level of L-fucose in the urine. Evidence: PCS. (PMID:2311216)
- Late onset (HP:0003584, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 1/1. (PMID:9011570)
- 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: PCS. Frequency: 3/6. (PMID:9011570)
- Esophageal varix (HP:0002040, a Human Phenotype Ontology term): Extreme dilation of the submucusoal veins in the lower portion of the esophagus. Evidence: PCS. Frequency: 1/1. (PMID:9011570)
- Pulmonary arterial hypertension (HP:0002092, a Human Phenotype Ontology term): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: IEA. (OMIM:215600)
- Abdominal distention (HP:0003270, a Human Phenotype Ontology term): Distention of the abdomen. Evidence: IEA. (OMIM:215600)
- Hypertension (HP:0000822, a Human Phenotype Ontology term): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:215600)
- 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:9011570)
- Fever (HP:0001945, a Human Phenotype Ontology term): Body temperature elevated above the normal range. Evidence: IEA. (OMIM:215600)
- Biliary cirrhosis (HP:0002613, a Human Phenotype Ontology term): Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. Evidence: PCS. Frequency: 1/5. (PMID:9011570)
- Jaundice (HP:0000952, a Human Phenotype Ontology term): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: IEA. (OMIM:215600)
- Micronodular cirrhosis (HP:0001413, a Human Phenotype Ontology term): A type of cirrhosis characterized by the presence of small regenerative nodules. Evidence: TAS. (OMIM:215600)
These phenotypes are associated with the disease cirrhosis, familial (OMIM:215600, an entry in Online Mendelian Inheritance in Man).