Female
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000377.2:c.559+5G>C | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
301000.1.1 | Saudi Arabia | Abnormal bleeding; Petechiae; Abnormal platelet count | Male | Yes | Sibling of 301000.1.2 | |
301000.1.2 | Saudi Arabia | Prolonged bleeding following circumcision; Petechiae; Bruising susceptibility; Eczema | Male | Yes | Sibling of 301000.1.1 |