Phenotypes associated with the disease hyperlysinemia (OMIM:238700):
- Ornithinuria (HP:0003532): Level of ornithine in the urine above the upper limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:23890588)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: PCS. Frequency: 1/2. (PMID:23890588)
- Hyperlysinuria (HP:0003297): An increased concentration of lysine in the urine. Evidence: PCS. Frequency: 3/3. (PMID:23890588;PMID:10775527)
- 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: PCS. Frequency: 1/2. (PMID:23890588)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: IEA. (OMIM:238700)
- Cystinuria (HP:0003131): An increased concentration of cystine in the urine. Evidence: PCS. Frequency: 1/2. (PMID:23890588)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/2. (PMID:23890588)
- Hyperlysinemia (HP:0002161): The concentration of lysine in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:23890588;PMID:10775527)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. (OMIM:238700)
- Hypoornithinemia (HP:0500163): An abnormal decrease in ornithine in the blood. Evidence: PCS. Frequency: 2/2. (PMID:23890588)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: IEA. (OMIM:238700)
- Homocitrullinuria (HP:0034464): An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders. Evidence: PCS. Frequency: 2/2. (PMID:23890588)
- Short attention span (HP:0000736): Reduced attention span characterized by distractibility and impulsivity. Evidence: PCS. Frequency: 1/2. (PMID:23890588)
- Decreased CSF arginine concentration (HP:0500204): Abnormally decreased levels of arginine in cerebrospinal fluid. Evidence: PCS. Frequency: 1/1. (PMID:23890588)
- Hyperactivity (HP:0000752): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: PCS. Frequency: 2/2. (PMID:23890588)
- Argininuria (HP:0003268): A increased concentration of arginine in the urine. Evidence: PCS. Frequency: 2/2. (PMID:23890588)
- Clumsiness (HP:0002312): Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. Evidence: PCS. Frequency: 1/2. (PMID:23890588)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 1/2. (PMID:23890588)
- Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373): A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. Evidence: PCS. Frequency: 1/2. (PMID:23890588)
- Dysdiadochokinesis (HP:0002075): A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible. Evidence: PCS. Frequency: 1/2. (PMID:23890588)
- Increased CSF lysine concentration (HP:0500208): Abnormally increased levels of lysine in cerebrospinal fluid. Evidence: PCS. Frequency: 1/1. (PMID:23890588)
- Ectopia lentis (HP:0001083): Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. Evidence: IEA. (OMIM:238700)
- Optic nerve hypoplasia (HP:0000609): Underdevelopment of the optic nerve. Evidence: PCS. Frequency: 1/2. (PMID:23890588)
- 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:10775527)
- Elevated CSF saccharopine concentration (HP:6000270): Concentration of saccharopine in the cerebrospinal fluid (CSF) above the upper limit of normal. Evidence: TAS. (OMIM:238700)