- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: PCS. Frequency: 19/20. Onset: Neonatal onset (HP:0003623). (PMID:12215968)
- Aminoaciduria (HP:0003355): An increased concentration of an amino acid in the urine. Evidence: PCS. Frequency: 20/20. Onset: Neonatal onset (HP:0003623). (PMID:12215968)
- Increased circulating pyruvate concentration (HP:0003542): The concentration of pyruvate in the blood circulation is above the upper limit of normal. Evidence: PCS. Onset: Neonatal onset (HP:0003623). (PMID:12215968)
- Elevated circulating iron concentration (HP:0003452): The concentration of iron cation in the blood circulation is above the upper limit of normal. Evidence: PCS. Onset: Neonatal onset (HP:0003623). (PMID:12215968)
- 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: PCS. (PMID:12215968)
- Chronic lactic acidosis (HP:0004925): A chronic form of lactic acidemia. Evidence: PCS. Onset: Neonatal onset (HP:0003623). (PMID:12215968)
- Neonatal hypotonia (HP:0001319): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. Evidence: PCS. Frequency: 3/20. Onset: Neonatal onset (HP:0003623). (PMID:12215968)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: PCS. Onset: Neonatal onset (HP:0003623). (PMID:12215968)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. (PMID:12215968)
These phenotypes are associated with the disease GRACILE syndrome (OMIM:603358).