| Individual ID | 23421944.01 |
|---|---|
| Pubmed ID | 23421944 |
| Whose mosaic mutation | Mother |
| Phenotypic Category | 1 |
| Number of affected children | 1 ( female: 1; ) |
| Disease | Autosomal dominant craniometaphyseal dysplasia(view all the variants in this disease) |
| OMIM ID | 123000 |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 68 | 56172 | ANKH | 5 | 14716831 | 14716833 | Autosomal dominant craniometaphyseal dysplasia | TAcloning |
| 69 | 56172 | ANKH | 5 | 14716831 | 14716833 | Autosomal dominant craniometaphyseal dysplasia | TAcloning |
| 70 | 56172 | ANKH | 5 | 14716831 | 14716833 | Autosomal dominant craniometaphyseal dysplasia | TAcloning |