Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000129.3:c.1475_1476delGA | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
613225.2.1 | Lebanon | Reduced factor XIII activity; Persistent bleeding after trauma; Epidural hemorrhage | Male | Yes | Yes | Proband |
613225.2.2 | Lebanon | Reduced factor XIII activity; Prolonged bleeding following circumcision; | Male | Yes | Yes | Brother of 613225.2.1 |
613225.2.3 | Lebanon | Reduced factor XII activity | Male | Yes | Father of 613225.2.1 | |
613225.2.5 | Lebanon | Reduced factor XII activity | Female | Yes | Sister of 613225.2.1 |