Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001909.5:c.1155_1169dup | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610127.1.1 | Saudi Arabia | Lissencephaly; Abnormality of neuronal migration; Exaggerated startle response | Female | Yes | Yes | |
| 610127.1.2 | Saudi Arabia | Female | Yes | Yes | Relative of 610127.1.1 | |
| 610127.1.3 | Saudi Arabia | Male | Yes | Yes | Relative of 610127.1.1 |