Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000536.3:c.1375A>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 603554.1.2 | Lebanon | Recurrent pneumonia; Hepatosplenomegaly; Lymphopenia; Abnormal T cell count; B lymphocytopenia; Increased circulating IgM level | Male | Yes | Yes | 4th degree cousin of 603554.1.1 |