Hypoparathyroidism-retardation-dysmorphism syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME | C1855840 | TBCE | Causal Pathogenic evidence from ClinVar | 12389028, 16938882, 25097779, 27666369 | ClinVar |
| Sanjad-Sakati syndrome | 2323 | TBCE | Causal Pathogenic evidence from ClinVar | - | ClinVar |