Spondyloocular syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Spondylo-ocular syndrome | 85194, C4225412 | XYLT2 | Causal Pathogenic evidence from ClinVar | 26027496, 26987875, 29136277 | ClinVar |
| Spondyloocular Syndrome, Autosomal Recessive | C1853925 | XYLT2 | Causal Pathogenic evidence from ClinVar | 26027496 | ClinVar |