Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_138425.4:c.1A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 218340.13.1 | Saudi Arabia | Hypertonia; Chorioretinal coloboma; Seizure; Profound global developmental delay; Bilateral tonic-clonic seizure with generalized onset; Microphthalmia; Agenesis of corpus callosum | Male | Yes | Yes | |
| 218340.13.2 | Saudi Arabia | Hypertonia; Chorioretinal coloboma; Global developmental delay; Seizure; Poor visual behavior for age; Thick corpus callosum | Male | Yes | Yes | Sibling of 218340.13.1 |
| 218340.13.3 | Saudi Arabia | Hypertonia; Seizure; Profound global developmental delay | Female | Yes | Yes | Sibling of 218340.13.1 |