Female
Yes
| 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 |
|---|---|---|---|---|---|---|
| 619055.5.1 | Lebanon | Profound global developmental delay; Hypotonia; Seizure; Exodeviation; Spastic tetraplegia; Kyphoscoliosis; Dementia; Death in childhood | Male | Yes | No | |
| 619055.5.2 | Lebanon | Profound global developmental delay; Hypotonia; Seizure; Exodeviation; Increased CSF lactate; Increased serum lactate; Cerebral atrophy | Male | Yes | No | Brother of 619055.5.1 |
| 619055.5.3 | Lebanon | Male | Yes | Unaffected father of 619055.5.1 |