Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000159.4:c.877G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 231670.7.1 | Palestine | Hypotonia; Dystonia; Tetraplegia; | Male | Yes | Yes | |
| 231670.7.2 | Palestine | Tetraplegia; Lissencephaly; | Female | Yes | Yes | Sister of 231670.7.1 |
| 231670.7.3 | Palestine | Asymptomatic | Female | Yes | Yes | Sister of 231670.7.1 |
| 231670.7.5 | Palestine | Female | Yes | Mother of 231670.7.1 |