Mandibular hypoplasia, deafness, progeroid features and lipodystrophy syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME | C3715192 | POLD1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 23770608, 25131834 | - |
| Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome | 363649 | POLD1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |