Phenotypes associated with the disease hyperdibasic aminoaciduria type 1 (OMIM:222690):
- Argininuria (HP:0003268): A increased concentration of arginine in the urine. Evidence: IEA. (OMIM:222690)
- Ornithinuria (HP:0003532): Level of ornithine in the urine above the upper limit of normal. Evidence: IEA. (OMIM:222690)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: IEA. (OMIM:222690)
- Dibasicaminoaciduria (HP:0003168): An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually referred to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His). Evidence: IEA. (OMIM:222690)
- Hyperlysinuria (HP:0003297): An increased concentration of lysine in the urine. Evidence: IEA. (OMIM:222690)
- 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:222690)
- 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:222690)