Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000517.6:c.70G>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 604131.4.1 | Tunisia | Hemoglobin Barts; Microcytic anemia; Hypochromia; Decreased mean corpuscular volume | Female | Yes | Proband |