Female
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001171155.2:c.3G>C | 1 | 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 |
619055.10.2 | Lebanon | Global developmental delay; EEG abnormality | Male | Yes | No | Brother of proband ('Family A' in the publication) |
619055.10.3 | Lebanon | Male | No | Father of proband ('Family A' in the publication) |