| Disease ID | Source | Name | Description |
| 618733 | OMIM | Neuromuscular oculoauditory syndrome (NMOAS) | An autosomal dominant neuromuscular disorder characterized by variable features including myopathy, neuropathy, hypotonia, joint contractures, growth delay, chorioretinal lacunae, sensorineuronal deafness, agenesis of the corpus callosum, and seizures. The disease is caused by variants affecting the gene represented in this entry. |