Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001171155.2:c.3G>C | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 619055.10.1 | Lebanon | Seizure; Global developmental delay; Hypotonia; Increased serum lactate; EEG abnormality; Bilateral basal ganglia lesions; Hyperintensity of cerebral white matter on MRI | Female | Yes | No | Proband from 'Family A' in the publication, died at the age of 2 years and 1 month |
| 619055.10.3 | Lebanon | Male | No | Father of proband ('Family A' in the publication) | ||
| 619055.10.4 | Lebanon | Female | No | Mother of proband ('Family A' in the publication) |