Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005529.7:c.8464+4A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 255800.1.1 | Tunisia | Myotonia; Blepharophimosis; Short stature | Male | Yes | Yes | |
| 255800.1.2 | Tunisia | Myotonia; Blepharophimosis; Short stature | Female | Yes | Yes | Sister of 255800.1.1 |
| 255800.1.3 | Tunisia | Myotonia; Blepharophimosis; Short stature | Male | Yes | Yes | Brother of 255800.1.1 |