Autism-epilepsy syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | 308410 | BCKDK | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |