Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_152281.3:c.231dup | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231070.6.1 | Saudi Arabia | Joint laxity; Abnormal facial shape; Osteopenia; Progeroid facial appearance | Female | Yes | Yes |