Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615066.1.2 | Saudi Arabia | Recurrent fractures | Female | Yes | Yes | Relative of 615066.1.1 |