Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000377.3:c.134C>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
301000.2.1 | Lebanon | Thrombocytopenia; Recurrent infections | Male | Yes | Yes | |
301000.2.3 | Lebanon | Thrombocytopenia; Recurrent infections | Male | Yes | Yes | Brother of 301000.2.1 |
301000.2.4 | Lebanon | Thrombocytopenia; Recurrent infections | Male | Yes | Yes | Brother of 301000.2.1 |
301000.2.5 | Lebanon | Female | Mother of 301000.2.1 |