| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001379614.1:c.629C>T | 3 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617532.1.1 | Palestine | Intellectual disability; Delayed speech and language development; Seizure; Obsessive-compulsive behavior; Downslanted palpebral fissures; Smooth philtrum; Thin upper lip vermilion; Patent ductus arteriosus | Female | Yes | Yes | Patient 'A.II-2' in the publication. |
| 617532.1.2 | Palestine | Intellectual disability; Seizure; Autistic behavior; Downslanted palpebral fissures; Smooth philtrum; Thin upper lip vermilion; Tics; Scoliosis | Female | Yes | Yes | Patient 'A.II-3' in the publication. Sister of 617532.1.1 |