- Elevated erythrocyte inosine triphosphate concentration (HP:6000510): Concentration of inosine triphosphate in red blood cells is above the upper limit of normal. Evidence: PCS. Frequency: 6/6. (PMID:12384777)
- 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:12384777)
- Reduced erythrocyte inosine triphosphatase activity (HP:6000511): Activity or concentration of inosine triphosphate pyrophosphohydrolase (EC 3.6.1.19) in red blood cells below the lower limit of normal. Evidence: PCS. Frequency: 6/6. (PMID:12384777)
These phenotypes are associated with the disease inosine triphosphatase deficiency (OMIM:613850).