Schwartz-jampel syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SCHWARTZ-JAMPEL SYNDROME | HSPG2 | Causal | Disgenet GenCC Orphanet | ||
| LDLRAD2 | Unknown | — | Disgenet | ||
| SCHWARTZ-JAMPEL SYNDROME TYPE 1 | HSPG2 | Causal | ClinGen ClinVar HPO | ||
| SCHWARTZ-JAMPEL SYNDROME, TYPE 1 | GNA11 | Unknown | — | Disgenet | |
| HSPG2 | Unknown | — | Disgenet HPO | ||
| LDLRAD2 | Unknown | — | Disgenet |