Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000088.4:c.299-2A>G | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 166200.4.1 | Saudi Arabia | Osteopenia; Recurrent fractures | Male | Yes | No |