Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002615.7:c.653del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613982.2.2 | Saudi Arabia | Recurrent fractures; Kyphosis; Osteopenia; Vertebral compression fracture | Male | Yes | Yes | Relative of 613982.2.1 |