Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome | 494439 | EXOSC2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |