Male
| 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 |
|---|---|---|---|---|---|---|
| 218340.4.1 | Palestine | Abnormal facial shape; Intellectual disability; Autistic behavior; Seizure; Spasticity; Abnormality of toe; Hyperglycemia; Hypoplasia of the corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Atrial septal defect; Ventriculomegaly; Optic atrophy | Male | Yes | Yes | Proband. |
| 218340.4.2 | Palestine | Abnormal facial shape; Hypotonia; Microcephaly; Microphthalmia; Iris coloboma; Intellectual disability; Autistic behavior; Seizure; Spasticity; Diabetes mellitus; Abnormality of toe; Agenesis of corpus callosum; Abnormal thalamic size; Hypoplastic anterior commissure; Abnormal third ventricle morphology; Abnormal cerebral white matter morphology; Atrial septal defect; Ventriculomegaly; Optic atrophy | Female | Yes | Yes | Sibling of proband. |
| 218340.4.3 | Palestine | Female | Mother of proband. |