Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Oculopharyngeal muscular dystorphy (5.12) | ||
| Olivopontocerebellar atrophy I (13.1) | ||
| Olivopontocerebellar atrophy II (13.2) | ||
| Olivopontocerebellar atrophy III (13.7) | ||
| optic atrophy 1 and deafness (16.24) |