- Reduced erythrocyte gamma-glutamyl cysteine synthetase activity (HP:6000132): Activity of gamma-glutamylcysteine synthetase (EC 6.3.2.2) in erythrocytes below the lower limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:2294991;PMID:12663448)
- Late-onset spinocerebellar degeneration (HP:0006904). Evidence: IEA. (OMIM:230450)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: PCS. Frequency: 0/1. (PMID:2294991)
- Polyneuropathy (HP:0001271): A generalized disorder of peripheral nerves. Evidence: PCS. Frequency: 0/1. (PMID:2294991)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: PCS. Frequency: 1/1. (PMID:2294991)
- 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. Frequency: 1/1. (PMID:2294991)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:2294991)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:2294991)
- Elevated urinary gamma-glutamylcysteine level (HP:6000834): The amount of gamma-glutamylcysteine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. (PMID:17397529)
These phenotypes are associated with the disease gamma-glutamylcysteine synthetase deficiency (OMIM:230450).