Disease ID | Source | Name | Description |
612780 | OMIM | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) | A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia. The disease is caused by variants affecting the gene represented in this entry. |