Congenital cataracts, facial dysmorphism, and neuropathy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy | C1858726 | CTDP1 | Causal Pathogenic evidence from ClinVar | 14517542 | ClinVar |
| Congenital cataracts-facial dysmorphism-neuropathy syndrome | 48431 | CTDP1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |