Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006755.2:c.574C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 606003.1.1 | United Arab Emirates | Hepatosplenomegaly; Pancytopenia; | Male | Yes | Yes | Belongs to a tribe of Saudi Arabian origin |