- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97339)
- Abnormal thrombosis (HP:0001977): Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97339)
- Arteriovenous fistula (HP:0004947): An abnormal connection between an artery and vein. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97339)
- Pulsatile tinnitus (HP:0008629): Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97339)
- Central nervous system cyst (HP:0030724): A fluid-filled sac (cyst) located within the central nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:97339)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Abnormality of vision (HP:0000504): Abnormality of eyesight (visual perception). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Abnormal posterior cranial fossa morphology (HP:0000932): An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Papilledema (HP:0001085): Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Abnormal cerebellum morphology (HP:0001317): Any structural abnormality of the cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Cerebral hemorrhage (HP:0001342): Hemorrhage into the parenchyma of the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Nausea and vomiting (HP:0002017): Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Subarachnoid hemorrhage (HP:0002138): Hemorrhage occurring between the arachnoid mater and the pia mater. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Intracranial hemorrhage (HP:0002170): Hemorrhage occurring within the skull. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Myelopathy (HP:0002196): Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- 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: Occasional (HP:0040283). (ORPHA:97339)
- Incoordination (HP:0002311): A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Language impairment (HP:0002463): Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Increased intracranial pressure (HP:0002516): An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Mild global developmental delay (HP:0011342): A mild delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Cerebellar hemorrhage (HP:0011695): Hemorrhage into the parenchyma of the cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Chemosis (HP:0012375): Edema (swelling) of the bulbar conjunctiva. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Carotid cavernous fistula (HP:0031157): An abnormal connection between a carotid artery and the cavernous sinus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Subdural hemorrhage (HP:0100309): Hemorrhage occurring between the dura mater and the arachnoid mater. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Abnormal facial vein morphology (HP:3000043): An abnormality of a facial vein. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:97339)
- Diplopia (HP:0000651): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97339)
- 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: Very rare (HP:0040284). (ORPHA:97339)
- Apathy (HP:0000741): Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97339)
- 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: Very rare (HP:0040284). (ORPHA:97339)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97339)
- 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: Very rare (HP:0040284). (ORPHA:97339)
- Parkinsonism (HP:0001300): Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97339)
- Abnormal speech pattern (HP:0002167): An abnormality in the sound (volume) or cadence (rate) of speech. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97339)
- Cerebral edema (HP:0002181): Abnormal accumulation of fluid in the brain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97339)
- Tetraparesis (HP:0002273): Weakness of all four limbs. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97339)
- Vascular dilatation (HP:0002617): An abnormal increase in the diameter of an artery or vein, either as a diffuse dilatation or as a localized, sac-like outpouching of the vessel wall (aneurysm). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97339)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97339)
- Hypoplasia of the frontal lobes (HP:0007333): Underdevelopment of the frontal lobe of the cerebrum. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97339)
- Moderate global developmental delay (HP:0011343): A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97339)
- Ear pain (HP:0030766): Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:97339)
These phenotypes are associated with the disease Dural sinus malformation with arteriovenous shunt (ORPHA:97339).