| Individual ID | 23572024.01 |
|---|---|
| Pubmed ID | 23572024 |
| Whose mosaic mutation | Mother |
| Phenotypic Category | 1 |
| Age | 9.0 |
| Number of affected children | 1 ( male: 1; ) |
| Disease | Trichorhinophalangeal syndrome type1(view all the variants in this disease) |
| OMIM ID | 190350 |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 64 | 7227 | TRPS1 | 8 | 116430646 | 116430646 | Trichorhinophalangeal syndrome type1 | Roche454 |