Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_138425.4:c.1A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 218340.3.1 | Libya | Abnormal facial shape; Intellectual disability; Autistic behavior; Seizure; EEG Abnormality; Hypoplasia of the corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Hypoplastic anterior commissure; Spasticity; Atrial septal defect | Male | Yes | Yes | Proband. |
| 218340.3.2 | Libya | Abnormal facial shape; Intellectual disability; Autistic behavior; Hypotonia; Agenesis of corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Atrial septal defect; Ventriculomegaly; Optic atrophy | Male | Yes | Yes | Sibling of proband. |
| 218340.3.4 | Libya | Male | Father of proband. |