Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000159.4:c.848T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231670.5.1 | Palestine | Hypotonia; Dystonia; Tetraplegia | Male | Yes | Yes | The patient had an older brother who presented with quadriplegia at 6 months and died at 12 years of age |
| 231670.5.2 | Palestine | Female | Yes | Yes | Sister of 231670.5.1 | |
| 231670.5.3 | Palestine | Female | Yes | Yes | Sister of 231670.5.1 | |
| 231670.5.5 | Palestine | Male | Yes | Yes | Father of 231670.5.1 | |
| 231670.5.6 | Palestine | Female | Yes | Yes | Mother of 231670.5.1 |