Epileptic encephalopathy and intellectual disability
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | 289266 | GRIN2A | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |
| EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) | C1848137 | PCDH19 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 2267240, 18469813, 19214208, 19752159, 20713952, 20830798, 21053371, 21480887, 21519002, 22050978, 22267240, 22848613, 22946748, 23334464, 23808377, 25818041, 26765483, 26993267, 27143072, 27527380, 28462982 | - |