Cerebellar atrophy with seizures and variable developmental delay
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY | CACNA2D2 | Causal | — | ClinVar Disgenet GenCC HPO | |
| CYB561D2 | Unknown | — | Disgenet | ||
| HEATR5B | Unknown | — | Disgenet | ||
| CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | KCNMA1 | Causal | ClinVar Disgenet HPO Orphanet | ||
| CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION | EMC1 | Unknown | — | CTD Disgenet HPO | |
| CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION, | EMC1 | Unknown | ClinVar GWAS catalog |