- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217260)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217260)
- Abnormal cerebrospinal fluid morphology (HP:0002921): An abnormality of the cerebrospinal fluid (CSF). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217260)
- Functional motor deficit (HP:0004302). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217260)
- CNS demyelination (HP:0007305): A loss of myelin from nerve fibers in the central nervous system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217260)
- Abnormal CD4+ T cell subset proportion (HP:0031392): Abnormal increase or decrease of any CD4+ T cell subpopulation, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217260)
- Abnormal oligodendroglia morphology (HP:0100706): One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217260)
- Abnormal astrocyte morphology (HP:0100707): An abnormality of astrocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:217260)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217260)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217260)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217260)
- Gait ataxia (HP:0002066): A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217260)
- Abnormal speech pattern (HP:0002167): An abnormality in the sound (volume) or cadence (rate) of speech. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217260)
- 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:217260)
- 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: Frequent (HP:0040282). (ORPHA:217260)
- Limb muscle weakness (HP:0003690): Reduced strength and weakness of the muscles of the arms and legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217260)
- Hemiplegia/hemiparesis (HP:0004374): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217260)
- Decreased total CD8+ T cell proportion (HP:0005415): Abnormal decrease of cytotoxic CD3+CD8+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217260)
- Weakness due to upper motor neuron dysfunction (HP:0010549): Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217260)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:217260)
- 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:217260)
- Personality changes (HP:0000751): An abnormal shift in patterns of thinking, acting, or feeling. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:217260)
- Visual field defect (HP:0001123). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:217260)
- 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:217260)
- 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: Occasional (HP:0040283). (ORPHA:217260)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:217260)
- 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:217260)
- Hematological neoplasm (HP:0004377): Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:217260)
- 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:217260)
- 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:217260)
- Homonymous hemianopia (HP:0030516). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:217260)
- 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:217260)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:217260)
- Dysmetria (HP:0001310): A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:217260)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:217260)
These phenotypes are associated with the disease Progressive multifocal leukoencephalopathy (ORPHA:217260).