- Torticollis (HP:0000473): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: PCS. Frequency: 2/5. (PMID:33889951)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/5. (PMID:33889951)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: PCS. Frequency: 4/5. (PMID:33889951)
- Gaze-evoked nystagmus (HP:0000640): Nystagmus made apparent by looking to the right or to the left. Evidence: PCS. Frequency: 1/5. (PMID:33889951)
- Bradykinesia (HP:0002067): Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). Evidence: PCS. Frequency: 1/5. (PMID:33889951)
- 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: PCS. Frequency: 5/5. (PMID:33889951)
- 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: PCS. Frequency: 5/5. (PMID:33889951)
- 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: PCS. Frequency: 5/5. (PMID:33889951)
- 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: PCS. Frequency: 0/5. (PMID:33889951)
- 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: PCS. Frequency: 4/5. (PMID:33889951)
- Postural tremor (HP:0002174): A type of tremors that is triggered by holding a limb in a fixed position. Evidence: PCS. Frequency: 2/5. (PMID:33889951)
- Limb ataxia (HP:0002070): A kind of ataxia that affects movements of the extremities. Evidence: PCS. Frequency: 5/5. (PMID:33889951)
- Limb myoclonus (HP:0045084). Evidence: PCS. Frequency: 1/5. (PMID:33889951)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 3/5. (PMID:33889951)
- 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: PCS. Frequency: 1/5. (PMID:33889951)
- Hypomimic face (HP:0000338): A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation. Evidence: PCS. Frequency: 1/5. (PMID:33889951)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:33889951)
- Atrophy/Degeneration affecting the brainstem (HP:0007366). Evidence: PCS. Frequency: 1/5. (PMID:33889951)
- Abnormal nerve conduction velocity (HP:0040129). Evidence: PCS. Frequency: 0/5. (PMID:33889951)
- Hypermetric saccades (HP:0007338): A saccade that overshoots the target with the dynamic saccade. Evidence: PCS. Frequency: 4/5. (PMID:33889951)
These phenotypes are associated with the disease spinocerebellar ataxia, autosomal recessive 32 (OMIM:619862).