Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000159.4:c.877G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
231670.7.1 | Palestine | Hypotonia; Dystonia; Tetraplegia; | Male | Yes | Yes | |
231670.7.3 | Palestine | Asymptomatic | Female | Yes | Yes | Sister of 231670.7.1 |
231670.7.4 | Palestine | Male | Yes | Father of 231670.7.1 | ||
231670.7.5 | Palestine | Female | Yes | Mother of 231670.7.1 |