Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_032790.3:c.493dup | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612782.1.1 | United Arab Emirates | History of congenital CMV infection; Hypotonia; History of bone marrow transplant | Male | Yes | Yes | The patient also had two deceased siblings and a deceased cousin with a history of recurrent infections and hypotonia. |
| 612782.1.G.1 | United Arab Emirates | Group of unaffected relatives of 612782.1.1 which includes his parents and sibling as well as the parents of his affected deceased cousin. |