Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome | C4317151 | SOX18 | Causal Pathogenic evidence from ClinVar | 12740761, 24697860, 29307792 | ClinVar |
| HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME | C1843004 | SOX18 | Causal Pathogenic evidence from ClinVar | 12740761, 24697860, 26148450 | ClinVar |
| Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | 69735 | SOX18 | Causal Pathogenic evidence from ClinVar | - | ClinVar |