| Individual ID | 22949144.01 |
|---|---|
| Pubmed ID | 22949144 |
| Whose mosaic mutation | Mother |
| Phenotypic Category | 1 |
| Number of affected children | 1 ( female: 1; ) |
| Disease | Early infantile epileptic encephalopathy9(view all the variants in this disease) |
| OMIM ID | 300088 |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 99 | 57526 | PCDH19 | X | 99662577 | 99662577 | Early infantile epileptic encephalopathy9 | ABI3130XL |
| 100 | 57526 | PCDH19 | X | 99662577 | 99662577 | Early infantile epileptic encephalopathy9 | ABI3130XL |
| 101 | 57526 | PCDH19 | X | 99662577 | 99662577 | Early infantile epileptic encephalopathy9 | ABI3130XL |
| 102 | 57526 | PCDH19 | X | 99662577 | 99662577 | Early infantile epileptic encephalopathy9 | ABI3130XL |