| Individual ID | 27830187.01 |
|---|---|
| Pubmed ID | 27830187 |
| Whose mosaic mutation | Male Patient |
| Phenotypic Category | 3 |
| Age | 2.0 ~ 2.0 |
| Number of affected children | 1 ( male: 1; ) |
| Disease | Focal Cortical Dysplasias(view all the variants in this disease) |
| OMIM ID | 607341 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 689 | 2475 | MTOR | 1 | 11184573 | 11184573 | Focal Cortical Dysplasias | NextSeq |