| Individual ID | 29281825.01 |
|---|---|
| Pubmed ID | 29281825 |
| Whose mosaic mutation | Male Patient |
| Phenotypic Category | 3 |
| Disease | Hemimegalencephaly(view all the variants in this disease) |
| OMIM ID | 604364 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1163 | 207 | AKT1 | 14 | 105246551 | 105246551 | Hemimegalencephaly | Sanger |