- 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:2589)
- 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:2589)
- Progressive cerebellar ataxia (HP:0002073). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2589)
- 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: Frequent (HP:0040282). (ORPHA:2589)
- Areflexia of lower limbs (HP:0002522): Inability to elicit tendon reflexes in the lower limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2589)
- EMG: neuropathic changes (HP:0003445): The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2589)
- Generalized amyotrophy (HP:0003700): Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2589)
- Sensorimotor neuropathy (HP:0007141). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2589)
- Progressive gait ataxia (HP:0007240): A type of gait ataxia displaying progression of clinical severity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2589)
- Bilateral sensorineural hearing impairment (HP:0008619): A form of sensorineural hearing impairment that affects both ears. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2589)
These phenotypes are associated with the disease Myoclonus-cerebellar ataxia-deafness syndrome (ORPHA:2589).