- Intermittent hypothermia (HP:0005964): Episodes of reduced body temperature. Evidence: PCS. (PMID:1677640)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 2/6. (PMID:1677640)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/6. (PMID:1677640)
- Orthostatic hypotension (HP:0001278): A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. Evidence: PCS. Frequency: 6/6. (PMID:1677640)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: PCS. Frequency: 2/6. (PMID:1677640)
- 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: 2/6. (PMID:1677640)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 3/6. (PMID:1677640)
- Elevated circulating dihydroxyphenylacetic acid concentration (HP:6000234): The concentration of dihydroxyphenylacetic acid in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:11857564)
- Lack of pupillary response to hydroxyamphetamine (HP:6000994): 4-hydroxyamphetamine is used in eye drops to dilate the pupil, e.g.., to induce mydriasis for fundus examinations. This term refers to a lack of response of the pupil to topical application of 4-hydroxyamphetamine. Evidence: PCS. (PMID:20301647)
- 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: PCS. Frequency: 2/6. (PMID:1677640)
- Atrial fibrillation (HP:0005110): An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. Evidence: PCS. Frequency: 1/6. (PMID:1677640)
- Retrograde ejaculation (HP:0012877): The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm. Evidence: PCS. Frequency: 2/2. (PMID:1677640)
- Reduced circulating dopamine beta-hydroxylase activity (HP:6000556): Concentration of Dopamine beta-hydroxylase (DBH; EC 1.14.17.1) in the blood circulation below the lower limit of normal. DBH catalyzes the oxidative hydroxylation of dopamine to norepinephrine. Evidence: PCS. Frequency: 2/2. (PMID:11857564)
- Weakness of facial musculature (HP:0030319): Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). Evidence: PCS. Frequency: 2/6. (PMID:1677640)
- Hypomagnesemia (HP:0002917): The concentration of magnesium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/6. (PMID:1677640)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: PCS. Frequency: 4/6. (PMID:1677640)
- Reduced circulating prolactin concentration (HP:0008202): A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production. Evidence: PCS. Frequency: 4/6. (PMID:1677640)
- 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:1677640)
- Neonatal hypoglycemia (HP:0001998). Evidence: PCS. Frequency: 1/6. (PMID:1677640)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 3/6. (PMID:1677640)
- Nasal congestion (HP:0001742): Reduced ability to pass air through the nasal cavity often leading to mouth breathing. Evidence: PCS. Frequency: 3/6. (PMID:1677640)
- Nocturia (HP:0000017): Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. Evidence: PCS. Frequency: 4/6. (PMID:1677640)
- Increased blood urea nitrogen (HP:0003138): An increased amount of nitrogen in the form of urea in the blood. Evidence: PCS. Frequency: 2/6. (PMID:1677640)
These phenotypes are associated with the disease orthostatic hypotension 1 (OMIM:223360).