Immunodeficiency, developmental delay, and hypohomocysteinemia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA | C4540293 | NFE2L2 | Causal Pathogenic evidence from ClinVar | 29018201 | ClinVar |