Megalencephaly cutis marmorata telangiectatica congenita
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Megalencephaly cutis marmorata telangiectatica congenita | C1865285 | PIK3CA | 22729224, 19011570, 26593112, 27030595, 22729223 |
| PIK3R2 | 28086757, 22729224, 26520804, 24497998 | ||
| AKT3 | 22729224, 25416470, 25523067, 28086757, 23745724 |