- Gaze-evoked horizontal nystagmus (HP:0007979, a Human Phenotype Ontology term): Horizontal nystagmus made apparent by looking to the right or to the left. Evidence: PCS. Frequency: 65/119. (PMID:36516086)
- Diplopia (HP:0000651, a Human Phenotype Ontology term): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: PCS. Frequency: 57/120. (PMID:36516086)
- Vertigo (HP:0002321, a Human Phenotype Ontology term): An abnormal sensation of spinning while the body is actually stationary. Evidence: PCS. Frequency: 33/114. (PMID:36516086)
- Cerebellar atrophy (HP:0001272, a Human Phenotype Ontology term): 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: 67/91. (PMID:36516086)
- Dysarthria (HP:0001260, a Human Phenotype Ontology term): 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: 63/118. (PMID:36516086)
- Gait ataxia (HP:0002066, a Human Phenotype Ontology term): 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: 113/118. (PMID:36516086)
- Adult onset (HP:0003581, a Human Phenotype Ontology term): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 122/122. (PMID:36516086)
- Postural tremor (HP:0002174, a Human Phenotype Ontology term): A type of tremors that is triggered by holding a limb in a fixed position. Evidence: PCS. Frequency: 18/114. (PMID:36516086)
- Limb ataxia (HP:0002070, a Human Phenotype Ontology term): A kind of ataxia that affects movements of the extremities. Evidence: PCS. Frequency: 94/118. (PMID:36516086)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:36516086)
- Downbeat nystagmus (HP:0010545, a Human Phenotype Ontology term): 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: PCS. Frequency: 50/199. (PMID:36516086)
These phenotypes are associated with the disease spinocerebellar ataxia 27B, late-onset (OMIM:620174, an entry in Online Mendelian Inheritance in Man).