- Movement abnormality of the tongue (HP:0000182). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- 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: Frequent (HP:0040282). (ORPHA:254881)
- Ophthalmoparesis (HP:0000597): Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- Gaze-evoked nystagmus (HP:0000640): Nystagmus made apparent by looking to the right or to the left. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- 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: Frequent (HP:0040282). (ORPHA:254881)
- Anxiety (HP:0000739): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- 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:254881)
- 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: Frequent (HP:0040282). (ORPHA:254881)
- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- Myoclonus (HP:0001336): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- 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:254881)
- Progressive cerebellar ataxia (HP:0002073). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- Dysdiadochokinesis (HP:0002075): A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- Migraine (HP:0002076): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- Increased circulating lactate concentration (HP:0002151): Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- Progressive neurologic deterioration (HP:0002344). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- Progressive encephalopathy (HP:0002448). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- Hyperalaninemia (HP:0003348): An increased concentration of alanine in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- Sensory axonal neuropathy (HP:0003390): An axonal neuropathy of peripheral sensory nerves. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- Acute hepatic failure (HP:0006554): Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- Bilateral tonic-clonic seizure with focal onset (HP:0007334): A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- Hemianopia (HP:0012377): Partial or complete loss of vision in one half of the visual field of one or both eyes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- Focal T2 hyperintense thalamic lesion (HP:0012692): A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
- 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:254881)
- EEG with occipital epileptiform discharges (HP:0033720): Focal epileptiform EEG discharges recorded in the occipital region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:254881)
These phenotypes are associated with the disease Spinocerebellar ataxia with epilepsy (ORPHA:254881).