| Gene | Associated with CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|---|---|---|---|---|
| ATP1A3 | ClinVar, OMIM, HUMSAVAR | HGNC link | 19q13.2 | 3 | 601338, PS104290, PS128100 |