Male
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 |
|---|---|---|---|---|---|---|
| 619055.6.1 | Lebanon | Seizure; Abnormal cerebral white matter morphology; Increased CSF lactate; Increased serum lactate; Recurrent respiratory infections; Hypotonia; Peripheral neuropathy; Hearing impairment; Visual impairment; | Male | No | Yes | |
| 619055.6.3 | Lebanon | Female | No | Unaffected mother of 619055.6.1 |