Epileptic encephalopathy and intellectual disability
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) | C1848137 | PCDH19 | 21480887, 26993267, 20830798, 23334464, 18469813, 23808377, 21053371, 26765483, 19752159, 28462982, 20713952, 27143072, 22267240, 22848613, 25818041, 19214208, 27527380, 22946748, 21519002, 22050978, 2267240 |
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | 289266 | GRIN2A |