Mandibuloacral dysplasia with lipodystrophy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Mandibuloacral dysplasia with type A lipodystrophy | 90153 | LMNA | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Mandibuloacral dysplasia with type B lipodystrophy | 90154 | ZMPSTE24 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY | C1837756 | ZMPSTE24 | Causal Pathogenic evidence from ClinVar | 12913070, 15317753, 17152860, 18435794, 20814950 | ClinVar |