Phenotypes associated with the disease hyperlysinemia due to defect in lysine transport into mitochondria (OMIM:238710):
- Mitochondrial lysine transport defect (HP:0008265). Evidence: IEA. (OMIM:238710)
- 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:238710)
- Hyperlysinemia (HP:0002161): The concentration of lysine in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:238710)
- 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:238710)