Renpenning syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Renpenning syndrome 1 | C0796135 | PQBP1 | Causal Pathogenic evidence from ClinVar | 7943045, 9545405, 12651867, 14634649, 15024694, 15782410, 16493439, 16740914, 17033686, 20410308, 20950397, 21315190, 23512658, 24781215, 25070536, 26046437, 26633545, 28073926 | ClinVar |