- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98757)
- Progressive external ophthalmoplegia (HP:0000590): Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98757)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98757)
- 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 frequent (HP:0040281). (ORPHA:98757)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98757)
- 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: Very frequent (HP:0040281). (ORPHA:98757)
- 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: Very frequent (HP:0040281). (ORPHA:98757)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98757)
- Abnormality of extrapyramidal motor function (HP:0002071): A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98757)
- Progressive cerebellar ataxia (HP:0002073). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98757)
- Clumsiness (HP:0002312): Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98757)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98757)
- Abnormal pyramidal sign (HP:0007256): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98757)
- Vocal cord paralysis (HP:0001605): A loss of the ability to move the vocal folds. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98757)
- Abnormal vestibular function (HP:0001751): An abnormality of the functioning of the vestibular apparatus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98757)
- Abnormality of temperature regulation (HP:0004370): An abnormality of temperature homeostasis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98757)
These phenotypes are associated with the disease Spinocerebellar ataxia type 3 (ORPHA:98757).