Individual ID | 29281825.06 |
---|---|
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 |
---|---|---|---|---|---|---|---|
1457 | 2475 | MTOR | 1 | 11184573 | 11184573 | Hemimegalencephaly | Sanger |