| Individual ID | 22740388.01 |
|---|---|
| Pubmed ID | 22740388 |
| Whose mosaic mutation | Parent |
| Phenotypic Category | 1 |
| Number of affected children | 2 ( female: 2; ) |
| Disease | Ankyloblepharon ectodermal defect cleft lip/palate syndrome(view all the variants in this disease) |
| OMIM ID | 106260 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 109 | 8626 | TP63 | 3 | 189612098 | 189612098 | Ankyloblepharon ectodermal defect cleft lip/palate syndrome | Sanger |