Male
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 |
---|---|---|---|---|---|---|
618239.1.1 | Lebanon | Repeated focal motor seizures; Ataxia; Decreased activity of mitochondrial complex I; Lactic acidosis | Female | Yes | Yes |