- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:820)
- Cutis marmorata (HP:0000965): A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:820)
- Thromboembolic stroke (HP:0001727): A cerebrovascular accident (stroke) that occurs because of thromboembolism. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:820)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:820)
- Cerebral cortical atrophy (HP:0002120): Atrophy of the cortex of the cerebrum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:820)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:820)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:820)
- Memory impairment (HP:0002354): An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:820)
- Sensorimotor neuropathy (HP:0007141). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:820)
- Vascular skin abnormality (HP:0011276). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:820)
- Arterial stenosis (HP:0100545): Narrowing or constriction of the inner surface (lumen) of an artery. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:820)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Visual field defect (HP:0001123). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Mitral regurgitation (HP:0001653): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Aortic regurgitation (HP:0001659): An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Transient ischemic attack (HP:0002326). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Developmental regression (HP:0002376): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Focal-onset seizure (HP:0007359): A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Impaired visuospatial constructive cognition (HP:0010794): Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Libman-Sacks lesions (HP:0011714): Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Decreased glomerular filtration rate (HP:0012213): An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Cerebral infarct (HP:0025722): A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Diminished ability to concentrate (HP:0031987): The inability to focus or concentrate on a specific task, activity, or object. The subject may find themselves unable to grasp or understand written text and re-reads frequently without understanding. Familiar tasks or activities are severely compromised due to the lack of ability to concentrate. Thinking through multi-step problems is typically very difficult or impossible, leading to avoidance of such activities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Amaurosis fugax (HP:0100576): A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:820)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Nephropathy (HP:0000112): A nonspecific term referring to disease or damage of the kidneys. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Bicuspid aortic valve (HP:0001647): The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Chorea (HP:0002072): Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Intracranial hemorrhage (HP:0002170): Hemorrhage occurring within the skull. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Aphasia (HP:0002381): An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Antiphospholipid antibody positivity (HP:0003613): The presence of circulating autoantibodies to phospholipids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Chilblains (HP:0009710): Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Oculomotor nerve palsy (HP:0012246): Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Central retinal vein occlusion (HP:0020166): Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Central retinal artery occlusion (HP:0025342): Blockage of the main artery in the retina. In the acute phase, the fundus may show cherry red spot and stasis of retinal flow. The typical presentation is one of profound monocular visual loss. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Internuclear ophthalmoplegia (HP:0030773): An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Raynaud phenomenon (HP:0030880). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Cutaneous necrosis (HP:0033126): Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin or as slough (dead tissue, usually cream or yellow in colour). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Cerebral visual impairment (HP:0100704): A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Suicide behaviors (HP:5200330): Suicide attempts or preparations. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Splinter hemorrhages (HP:6000139): Thin, red to reddish-brown lines of blood (hemorrhages) under the nails. Splinter hemorrhages run vertically under the nails. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:820)
- Subarachnoid hemorrhage (HP:0002138): Hemorrhage occurring between the arachnoid mater and the pia mater. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:820)
- Intraventricular hemorrhage (HP:0030746): Bleeding into the ventricles of the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:820)
- Livedo racemosa (HP:0033260): Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:820)
These phenotypes are associated with the disease Sneddon syndrome (ORPHA:820).