- Hepatoblastoma (HP:0002884, a Human Phenotype Ontology term): A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts. Evidence: IEA. (OMIM:232240)
- Hyperlipidemia (HP:0003077, a Human Phenotype Ontology term): An elevated lipid concentration in the blood. Evidence: TAS. (OMIM:232240)
- Renal insufficiency (HP:0000083, a Human Phenotype Ontology term): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: IEA. (OMIM:232240)
- Hepatomegaly (HP:0002240, a Human Phenotype Ontology term): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:9686363)
- Hyperketonemia (HP:0410175, a Human Phenotype Ontology term): An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood. Evidence: IEA. (OMIM:232240)
- Spider hemangioma (HP:0012522, a Human Phenotype Ontology term): A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released. Evidence: TAS. (OMIM:232240)
- Hypoglycemia (HP:0001943, a Human Phenotype Ontology term): A decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 1/1. (PMID:9686363)
- Ketosis (HP:0001946, a Human Phenotype Ontology term): Presence of elevated levels of ketone bodies in the body. Evidence: IEA. (OMIM:232240)
- Metabolic acidosis (HP:0001942, a Human Phenotype Ontology term): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: IEA. (OMIM:232240)
- Hepatocellular carcinoma (HP:0001402, a Human Phenotype Ontology term): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: IEA. (OMIM:232240)
- Lactic acidosis (HP:0003128, a Human Phenotype Ontology term): An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. Evidence: PCS. Frequency: 1/1. (PMID:9686363)
- Neonatal onset (HP:0003623, a Human Phenotype Ontology term): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:9686363)
- Inflammation of the large intestine (HP:0002037, a Human Phenotype Ontology term): Inflammation, or an inflammatory state in the large intestine. Evidence: PCS. Frequency: 1/1. (PMID:9686363)
- Xanthomatosis (HP:0000991, a Human Phenotype Ontology term): The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. Evidence: IEA. (OMIM:232240)
- Focal segmental glomerulosclerosis (HP:0000097, a Human Phenotype Ontology term): Segmental accumulation of scar tissue in individual (but not all) glomeruli. Evidence: IEA. (OMIM:232240)
- Hematuria (HP:0000790, a Human Phenotype Ontology term): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: IEA. (OMIM:232240)
- Proteinuria (HP:0000093, a Human Phenotype Ontology term): Increased levels of protein in the urine. Evidence: IEA. (OMIM:232240)
- 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:232240)
- Decreased glomerular filtration rate (HP:0012213, a Human Phenotype Ontology term): An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. Evidence: IEA. (OMIM:232240)
- Chronic pancreatitis (HP:0006280, a Human Phenotype Ontology term): A chronic form of pancreatitis. Evidence: IEA. (OMIM:232240)
- Cyclically decreased total neutrophil count (HP:0040289, a Human Phenotype Ontology term): Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, which occurs cyclically and then recovers without intervention. Evidence: PCS. Frequency: 1/1. (PMID:9686363)
- Stomatitis (HP:0010280, a Human Phenotype Ontology term): Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. Evidence: PCS. Frequency: 1/1. (PMID:9686363)
- Hypertension (HP:0000822, a Human Phenotype Ontology term): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:232240)
- 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: IEA. (OMIM:232240)
- Delayed puberty (HP:0000823, a Human Phenotype Ontology term): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: IEA. (OMIM:232240)
- Recurrent upper respiratory tract infections (HP:0002788, a Human Phenotype Ontology term): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: PCS. Frequency: 1/1. (PMID:9686363)
- Xanthelasma (HP:0001114, a Human Phenotype Ontology term): The presence of xanthomata in the skin of the eyelid. Evidence: TAS. (OMIM:232240)
- Absence of bactericidal oxidative respiratory burst in phagocytes (HP:0002723, a Human Phenotype Ontology term): An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. Evidence: PCS. Frequency: 0/1. (PMID:9686363)
- Gout (HP:0001997, a Human Phenotype Ontology term): Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. Evidence: IEA. (OMIM:232240)
- Hyperuricemia (HP:0002149, a Human Phenotype Ontology term): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:232240)
These phenotypes are associated with the disease glycogen storage disease Ib (OMIM:232240, an entry in Online Mendelian Inheritance in Man).