Salt and pepper developmental regression syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Amish Infantile Epilepsy Syndrome | C1836824 | ATXN2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |
| ST3GAL5 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 15502825, 22990144, 23436467, 24026681, 25529582, 27232954, 27604308 | - |