| Individual ID | 14708104.01 |
|---|---|
| Pubmed ID | 14708104 |
| Whose mosaic mutation | Mother |
| Phenotypic Category | 1 |
| Age | 0.25 |
| Number of affected children | 2 ( male: 1; female: 1; ) |
| Disease | Pallister Hall syndrome(view all the variants in this disease) |
| OMIM ID | 146510 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 532 | 2737 | GLI3 | 7 | 42005285 | 42005286 | Pallister Hall syndrome | ABI377 |