Hypomyelinating leukodystrophy with or without oligodontia and/or hypogonadotropic hypogonadism
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM | C3280644 | POLR3B | 24357685, 22036171, 25655951, 22036172, 23355746 |