Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000159.4:c.1247C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231670.4.1 | Palestine | Hypotonia; Dystonia; Tetraplegia; Tetraparesis; Anarthria | Male | Yes | Yes | The patient had 8 additional siblings that were deceased |
| 231670.4.3 | Palestine | Asymptomatic | Male | Yes | Yes | Brother of 231670.4.1 |
| 231670.4.4 | Palestine | Asymptomatic | Male | Yes | Yes | Father of 231670.4.1 |
| 231670.4.5 | Palestine | Female | Yes | Yes | Mother of 231670.4.1 |