Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000159.4:c.914C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231670.9.1 | Palestine | Hemiparesis; Hypertonia; Ataxia | Female | No | Yes | |
| 231670.9.3 | Palestine | Female | No | Mother of 231670.9.1 |