- Aminoaciduria (HP:0003355): An increased concentration of an amino acid in the urine. Evidence: IEA. (OMIM:222730)
- 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:21123949)
- Fasting hypoglycemia (HP:0003162). Evidence: IEA. (OMIM:222730)
- Aspartic aciduria (HP:0032401): A increased concentration of aspartic acid in the urine. Evidence: PCS. Frequency: 2/2. (PMID:21123949)
- 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:222730)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: PCS. Frequency: 1/2. Onset: Young adult onset (HP:0011462). (PMID:21123949)
These phenotypes are associated with the disease dicarboxylic aminoaciduria (OMIM:222730).