Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001040436.3:c.156C>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613561.1.1 | Lebanon | Sideroblastic anemia; Lactic acidosis; Exercise intolerance; Decreased activity of mitochondrial complex I ; Decreased activity of mitochondrial complex IV; Progressive muscle weakness | Male | Yes | Yes | |
| 613561.1.2 | Lebanon | Sideroblastic anemia; Lactic acidosis; Exercise intolerance; Decreased activity of mitochondrial complex I ; Decreased activity of mitochondrial complex IV; Progressive muscle weakness | Female | Yes | Yes | Sibling of 613561.1.1 |
| 613561.1.4 | Lebanon | Male | Father of 613561.1.1 |