- Upper motor neuron dysfunction (HP:0002493): A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:206448)
- Reduced tissue galactocerebrosidase activity (HP:0034322): Concentration or activity of galactocerebrosidase (EC 3.2.1.46) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:206448)
- 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: Frequent (HP:0040282). (ORPHA:206448)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206448)
- Abnormal corpus callosum morphology (HP:0001273): Abnormality of the corpus callosum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206448)
- Abnormal midbrain morphology (HP:0002418): An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206448)
- Increased CSF protein concentration (HP:0002922): Increased concentration of protein in the cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206448)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206448)
- Babinski sign (HP:0003487): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206448)
- Hyperactive deep tendon reflexes (HP:0006801). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206448)
- Progressive spastic paraparesis (HP:0007199). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206448)
- CNS demyelination (HP:0007305): A loss of myelin from nerve fibers in the central nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206448)
- Abnormal pons morphology (HP:0007361): A structural abnormality of the pons. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206448)
- Abnormal circulating enzyme concentration or activity (HP:0012379): Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206448)
- Hoffmann sign (HP:0031993): A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:206448)
- 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:206448)
- 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: Occasional (HP:0040283). (ORPHA:206448)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206448)
- 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:206448)
- Abnormal pyramidal tract morphology (HP:0002062): Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206448)
- Clumsiness (HP:0002312): Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206448)
- Progressive neurologic deterioration (HP:0002344). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206448)
- EEG abnormality (HP:0002353): Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206448)
- Frequent falls (HP:0002359). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206448)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206448)
- 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:206448)
- Upper limb muscle weakness (HP:0003484): Weakness of the muscles of the arms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206448)
- Functional motor deficit (HP:0004302). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206448)
- Delayed brainstem auditory evoked response conduction time (HP:0004466): An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206448)
- Sensorimotor neuropathy (HP:0007141). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206448)
- Lower limb muscle weakness (HP:0007340): Weakness of the muscles of the legs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206448)
- 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:206448)
- Impaired tactile sensation (HP:0010830): A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206448)
- Peripheral demyelination (HP:0011096): A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206448)
- Abnormal medulla oblongata morphology (HP:0011441): An abnormality of the medulla oblongata, the lower half of the brainstem. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206448)
- Acroparesthesia (HP:0031006): A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:206448)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206448)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206448)
- Broad-based gait (HP:0002136): An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206448)
- Tetraparesis (HP:0002273): Weakness of all four limbs. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206448)
- Hemiplegia (HP:0002301): Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206448)
- Loss of speech (HP:0002371). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206448)
- Abnormal corticospinal tract morphology (HP:0002492): Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206448)
- Erectile dysfunction (HP:0100639): A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:206448)
These phenotypes are associated with the disease Adult Krabbe disease (ORPHA:206448).