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