Female
Yes
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 |
---|---|---|---|---|---|---|
231670.4.1 | Palestine | Hypotonia; Dystonia; Tetraplegia; Tetraparesis; Anarthria | Male | Yes | Yes | The patient had 8 additional siblings that were deceased |
231670.4.2 | Palestine | Hypotonia; Dystonia; Tetraplegia; Tetraparesis; Anarthria | Female | Yes | Yes | Sister of 231670.4.1 |
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 |