- Spastic diplegia (HP:0001264): Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. Evidence: IEA. (OMIM:268700)
- EEG abnormality (HP:0002353): Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. Evidence: IEA. (OMIM:268700)
- Elevated urinary saccharopine level (HP:6000283): The amount of saccharopine in the urine, when normalized to urine concentration, is above the upper limit of normal. Evidence: TAS. Frequency: 20/20. (OMIM:268700)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: IEA. (OMIM:268700)
- Hyperlysinuria (HP:0003297): An increased concentration of lysine in the urine. Evidence: IEA. (OMIM:268700)
- Histidinuria (HP:0002927): An increased concentration of histidine in the urine. Evidence: IEA. (OMIM:268700)
- Citrullinuria (HP:0032397): The amount of citrulline in the urine, when normalized for urine concentration, is above the upper limit of normal. Evidence: IEA. (OMIM:268700)
- 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:268700)
- Elevated circulating saccharopine concentration (HP:0034026): An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine. Evidence: TAS. (OMIM:268700)
- 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:268700)
These phenotypes are associated with the disease saccharopinuria (OMIM:268700).