Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018136.5:c.5064del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608716.11.1 | Saudi Arabia | Polymicrogyria; Global developmental delay | Male | Yes | Yes | |
| 608716.11.2 | Saudi Arabia | Polymicrogyria; Global developmental delay | Female | Yes | Yes | Sibling of 608716.11.1 |