- Elevated urinary norepinephrine level (HP:0003345): The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:10684912)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/2. (PMID:10684912)
- Orthostatic tachycardia (HP:0012173): An increase in heart rate with standing of 30 beats per minute or more. Evidence: PCS. Frequency: 2/2. (PMID:10684912)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:10684912)
These phenotypes are associated with the disease postural orthostatic tachycardia syndrome due to NET deficiency (OMIM:604715).