Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014974.3:c.3283C>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 611380.1.2 | Saudi Arabia | Short stature; Brachydactyly; Aplasia/Hypoplasia of toe | Male | Yes | Yes | Relative of 611380.1.1 |