- Progressive cerebellar ataxia (HP:0002073). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:284289)
- 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: Very frequent (HP:0040281). (ORPHA:284289)
- 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:284289)
- Macular degeneration (HP:0000608): A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284289)
- Dysmetric saccades (HP:0000641): The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284289)
- Saccadic smooth pursuit interruptions (HP:0001152): An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284289)
- 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:284289)
- Cerebellar atrophy (HP:0001272): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284289)
- 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:284289)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284289)
- Brisk reflexes (HP:0001348): Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284289)
- Slurred speech (HP:0001350): Abnormal coordination of muscles involved in speech. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284289)
- 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: Frequent (HP:0040282). (ORPHA:284289)
- Limb ataxia (HP:0002070): A kind of ataxia that affects movements of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284289)
- Truncal ataxia (HP:0002078): Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284289)
- Generalized-onset seizure (HP:0002197): A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284289)
- Fasciculations (HP:0002380): Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284289)
- EMG abnormality (HP:0003457): Abnormal results of investigations using electromyography (EMG). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284289)
- Progressive gait ataxia (HP:0007240): A type of gait ataxia displaying progression of clinical severity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284289)
- Leg muscle stiffness (HP:0008969). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284289)
- Downbeat nystagmus (HP:0010545): Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284289)
- Ankle clonus (HP:0011448): Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284289)
- Tortuosity of conjunctival vessels (HP:0000503): The presence of an increased number of twists and turns of the conjunctival blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284289)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284289)
- 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:284289)
- Horizontal nystagmus (HP:0000666): Nystagmus consisting of horizontal to-and-fro eye movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284289)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284289)
- Intention tremor (HP:0002080): A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284289)
These phenotypes are associated with the disease Adult-onset autosomal recessive cerebellar ataxia (ORPHA:284289).