Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| Hb Fontainebleau NM_000517.6:c.64G>C | 2 | 0.0024 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 604131.13 | United Arab Emirates | Reduced hemoglobin A; Anemia; Decreased mean corpuscular volume | Male | 'Case 2' in the publication |