Chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism | C1859093 | PNPLA6 | 25033069, 23733235, 24355708, 29749493 |