Spondylometaphyseal dysplasia with cone-rod dystrophy
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy | C1837073 | PCYT1A | 24387990, 24387991, 24889630 |
| SLC51A | |||
| Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | 85167 | PCYT1A |