| Disease ID | Source | Name | Description |
| 608984 | OMIM | Ataxia, sensory, 1, autosomal dominant (SNAX1) | A rare disease characterized by progressive ataxia caused by degeneration of the posterior columns of the spinal cord. Affected individuals have a reduced ability to feel pain, temperature and vibration, particularly in the hands and feet. Their most prominent feature is an ataxic gait resulting from a severe loss of proprioception. Thus, patients rely on visual cues for maintaining proper body posture, such that they are unable to remain upright if their eyes are closed (Romberg sign). The disease is caused by variants affecting the gene represented in this entry. |