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 |
|---|---|---|---|---|---|---|
| 619055.2.1 | Lebanon | Global developmental delay; Hypotonia; Seizure; Status epilepticus; Failure to thrive; Abnormal cerebral white matter morphology; Increased CSF lactate; Increased serum lactate; Death in infancy | Male | No | Yes | The patient had four older siblings that had died within the first year of life without clear diagnoses but all had developmental delay and seizures. |
| 619055.2.2 | Lebanon | Male | No | Unaffected father of 619055.2.1 |