Female
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001171155.2:c.3G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 619055.3.1 | Lebanon | Circumoral cyanosis; Lamellar cataract; Seizure; Abnormal cerebral white matter morphology; Increased CSF lactate; Increased serum lactate; Increased serum pyruvate; Thoracic scoliosis; Recurrent respiratory infections; Vegetative state | Female | No | No | The patient had an older brother suggested to have Rolandic seizures. |
| 619055.3.2 | Lebanon | Male | No | Unaffected father of 619055.3.1 |