Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000521.4:c.170G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 268800.7.1 | Saudi Arabia | Abnormal cerebral cortex morphology | Male | Yes | Proband from 'family 002' in the publication | |
| 268800.7.2 | Saudi Arabia | Male | Father of 268800.7.1 |