Spondylometaphyseal dysplasia with cone-rod dystrophy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy | C1837073 | PCYT1A | Causal Pathogenic evidence from ClinVar | 24387990, 24387991, 24889630 | ClinVar |
| SLC51A | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - | ||
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 85167 | PCYT1A | Causal Pathogenic evidence from ClinVar | - | ClinVar |