- Prolinuria (HP:0003137): Level of proline in the urine anove the upper limit of normal. Evidence: IEA. (OMIM:239510)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:239510)
- Elevated urinary pyrroline hydroxycarboxylic acid level (HP:6000620): The amount of pyrroline hydroxycarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. (PMID:9700195)
- Elevated circulating 1-pyrroline-5-carboxylic acid concentration (HP:6000694): The concentration of delta-1-pyrroline-5-carboxylate in the blood circulation is above the upper limit of normal. Evidence: TAS. (OMIM:239510)
- Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity (HP:6000695): Concentration or activity of delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDH; EC 1.5.1.12) below the lower limit of normal. P5CDH can be measured in multiple tissues including leukocytes and cultured fibroblasts. P5CDH is a mitochondrial matrix NAD(+)-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Evidence: PCS. Frequency: 5/5. (PMID:2624476)
- 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: IEA. (OMIM:239510)
- Hyperprolinemia (HP:0008358): The concentration of proline in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:239510)
- Hydroxyprolinuria (HP:0003080): An increased concentration of 4-hydroxy-L-proline in the urine. Evidence: IEA. (OMIM:239510)
- Hyperglycinuria (HP:0003108): An increased concentration of glycine in the urine. Evidence: IEA. (OMIM:239510)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (OMIM:239510)
These phenotypes are associated with the disease hyperprolinemia type 2 (OMIM:239510).