Phenotypes associated with the disease Spinocerebellar ataxia type 11 (ORPHA:98767):
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98767)
- Horizontal nystagmus (HP:0000666): Nystagmus consisting of horizontal to-and-fro eye movements. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98767)
- 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:98767)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98767)
- Progressive cerebellar ataxia (HP:0002073). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98767)
- Gait imbalance (HP:0002141). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98767)
- Jerky ocular pursuit movements (HP:0008003). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98767)
- Vertical nystagmus (HP:0010544): Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98767)
- 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 rare (HP:0040284). (ORPHA:98767)
- Abnormal pyramidal sign (HP:0007256): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98767)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98767)