| 218340.2.1 | Kuwait | Hypotonia; Intellectual disability; Autistic behavior; Seizure; Hypoplasia of the corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum | Female | Yes | Yes | Proband. Parents are first-cousins. |
| 218340.2.2 | Kuwait | Hypotonia; Intellectual disability; Autistic behavior; Seizure; Hypoplasia of the corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Hypoplastic anterior commissure ; Ventriculomegaly; Abnormality of pattern onset/offset visual evoked potentials; Atrial septal defect; Spasticity; EEG abnormality | Male | Yes | Yes | Sibling of proband. |
| 218340.2.3 | Kuwait | Hypotonia; Intellectual disability; Autistic behavior; Seizure; Agenesis of corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Esotropia; Atrial septal defect; Spasticity; Pulmonic stenosis; Conductive hearing impairment | Female | Yes | Yes | Sibling of proband. |
