- 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: Frequent (HP:0040282). (ORPHA:2356)
- Intracranial cystic lesion (HP:0010576): A cystic lesion originating within the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2356)
- Leptomeningeal enhancement (HP:0032070): Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2356)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- 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: Occasional (HP:0040283). (ORPHA:2356)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Blurred vision (HP:0000622): Lack of sharpness of vision resulting in the inability to see fine detail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- 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: Occasional (HP:0040283). (ORPHA:2356)
- 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:2356)
- Disinhibition (HP:0000734): Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Abnormal diminished volition (HP:0000745): A reduction in willful and motivated goal-directed behavior that is considered the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Abnormality of the endocrine system (HP:0000818): An abnormality of the endocrine system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Posterior fossa cyst at the fourth ventricle (HP:0000933). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Visual field defect (HP:0001123). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- 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:2356)
- 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: Occasional (HP:0040283). (ORPHA:2356)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Cranial nerve compression (HP:0001293). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Abnormal cerebellum morphology (HP:0001317): Any structural abnormality of the cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Slurred speech (HP:0001350): Abnormal coordination of muscles involved in speech. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Subarachnoid hemorrhage (HP:0002138): Hemorrhage occurring between the arachnoid mater and the pia mater. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Spinal cord compression (HP:0002176): External mechanical compression of the spinal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Tetraparesis (HP:0002273): Weakness of all four limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Chiari malformation (HP:0002308): Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- 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: Occasional (HP:0040283). (ORPHA:2356)
- Paraparesis (HP:0002385): Weakness or partial paralysis in the lower limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Urinary bladder sphincter dysfunction (HP:0002839): Abnormal function of a sphincter of the urinary bladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Distal sensory impairment (HP:0002936): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Difficulty standing (HP:0003698). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Poor appetite (HP:0004396): A reduced desire to eat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Disturbance of facial expression (HP:0005324): An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Social and occupational deterioration (HP:0007086). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Posterior fossa cyst (HP:0007291): A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Lower limb muscle weakness (HP:0007340): Weakness of the muscles of the legs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Spinal arachnoid cyst (HP:0009745): Presence of arachnoid cysts of the spinal canal extradurally in the epidural space. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Abnormal spinal meningeal morphology (HP:0010303): Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Facial palsy (HP:0010628): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Mydriasis (HP:0011499): Abnormal dilatation of the iris. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Sciatica (HP:0011868): Pain in the lower back and hip radiating in the distribution of the sciatic nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- 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:2356)
- Lower limb pain (HP:0012514): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Abnormal large intestine physiology (HP:0012700): A functional anomaly of the large intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Upgaze palsy (HP:0025331): A limitation of the ability to direct one's gaze above the horizontal meridian. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Self-neglect (HP:0025479): A pathological neglect of personal needs and well-being that includes attending to self-grooming, personal care and the attention to cleanliness of personal space. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Inappropriate crying (HP:0030215): Uncontrolled episodes of crying occur without any apparent motivating stimuli. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Interhemispheric cyst (HP:0032327): Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Mania (HP:0100754): A state of abnormally elevated or irritable mood, arousal, and/or energy levels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Insomnia (HP:0100785): Persistent difficulty in starting or maintaining sleep, or waking up earlier than desired, despite having adequate opportunities and conditions for sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2356)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2356)
- Holoprosencephaly (HP:0001360): Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2356)
- Encephalocele (HP:0002084): A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2356)
- Neoplasm (HP:0002664): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2356)
- Abnormal occipital bone morphology (HP:0012294): Abnormality of the occipital bone of the skull. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2356)
- Neurodevelopmental delay (HP:0012758): Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2356)
- Mild malformation of cortical development (HP:0032059): A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2356)
- Severe infection (HP:0032169): A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2356)
- Enlarged fossa interpeduncularis (HP:0100951). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2356)
These phenotypes are associated with the disease Arachnoid cyst (ORPHA:2356).