Phenotypes associated with the disease inherited threoninemia (OMIM:273770):
- Hyperthreoninemia (HP:0003354): The concentration of threonine in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:273770)
- 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:273770)
- Hyperthreoninuria (HP:0003296): An increased concentration of threonine in the urine. Evidence: IEA. (OMIM:273770)
- 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:273770)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: IEA. (OMIM:273770)