Immunoskeletal dysplasia with neurodevelopmental abnormalities
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES | C4479452 | EXTL3 | Causal Pathogenic evidence from ClinVar | 28132690, 28148688 | ClinVar |