Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000448.2:c.2942A>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 609889.2.1 | Morocco | Severe cytomegalovirus infection; Interstitial pneumonitis; Autoimmune neutropenia; Hemolytic anemia; ; | Female | Yes | ||
| 609889.2.2 | Morocco | ; | Female | Mother of 609889.2.1 |