Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000159.4:c.1247C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231670.8.1 | Palestine | Dystonia | Female | Yes | Yes | |
| 231670.8.2 | Palestine | Tetraparesis | Female | Yes | Yes | Sister of 231670.8.1 |
| 231670.8.3 | Palestine | Male | Yes | Father of 231670.8.1 |