Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004530.6:c.538G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 259600.1.2 | Saudi Arabia | Contractures of the joints of the upper limbs; Osteopenia; Scoliosis | Female | Yes | Yes | Relative of 259600.1.1 |