Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000448.2:c.519delT | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 609889.1.1 | Algeria | Severe cytomegalovirus infection; Immunodeficiency; | Male | Yes | ||
| 609889.1.3 | Algeria | Male | Father of 609889.1.1 |