Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000448.3:c.2521C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 609889.3.1 | Lebanon | Autoimmune hemolytic anemia; Hepatosplenomegaly; Severe cytomegalovirus infection; Bronchiolitis ; ; ; | Male | Yes | ||
| 609889.3.3 | Lebanon | ; ; | Male | Father of 609889.3.1 |