Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005033.3:c.41T>C | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 618065.3.1 | Saudi Arabia | Neonatal hypotonia; Microcephaly; Severe global developmental delay; Seizure; Abnormal facial shape; Axial hypotonia; Brain atrophy | Female | Yes | Yes | 'Individual 3:II-1' in the publication. This patient had an older sister with severe spasticity, epilepsy, and brain atropy. |
| 618065.3.2 | Saudi Arabia | Male | Father of 618065.3.1 |