Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002546.4:c.887dup | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 239000.1.2 | Egypt | Recurrent fractures | Male | Yes | Yes | Relative of 239000.1.1 |