Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_152416.4:c.296A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 618239.1.2 | Lebanon | Repeated focal motor seizures; Ataxia; Decreased activity of mitochondrial complex I; Lactic acidosis | Male | Yes | Yes | Sibling of 618239.1.1 |