Hypotonia, ataxia, and delayed development syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME | C4310618 | EBF3 | Causal Pathogenic evidence from ClinVar | 28017370, 28017372, 28017373 | ClinVar |