Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NC_012920.1:m.12299A>C |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 540000.1.1 | Saudi Arabia | Ataxia; Multifocal seizures; Cerebellar atrophy; Hypotonia; Spasticity; Increased serum lactate; Headache; Abdominal pain; Vomiting | Male | Yes | Patient is 65% and 80% heteroplasmic for this mutation in leukocytes and skeletal muscle cells respectively. |