Pili torti-deafness syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Pili torti-deafness syndrome | C0266006 | BCS1L | Causal Pathogenic evidence from ClinVar | 9777342, 9878253, 17314340, 19389488, 24172246, 24236502, 25525159, 25895478, 27604308, 28105683, 28322498 | ClinVar |