Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000618.5:c.292C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 270450.3.1 | Saudi Arabia | Lissencephaly; Abnormality of neuronal migration; Short stature | Female | Yes | Yes |