Camptodactyly-tall stature-scoliosis-hearing loss syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 85164 | FGFR3 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| CATSHL syndrome | C1864852 | FGFR3 | Causal Pathogenic evidence from ClinVar | 7647778, 8841188, 16912704, 17033969, 24864036 | ClinVar |