Knuckle pads, deafness and leukonychia syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Knuckle pads, leuconychia and sensorineural deafness | C0266004 | GJB2 | Causal Pathogenic evidence from ClinVar | 9285800, 9328482, 9336442, 10376574, 10713883, 12172392, 15482471, 15952212, 17666888, 18294064, 22421650, 24346921, 31160754 | ClinVar |