Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005529.7:c.11000C>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 255800.2 | Saudi Arabia | Hirsutism; Short neck; Full cheeks; Narrow mouth; Pursed lips | Female | Yes | Yes |