Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001204077.2:c.631C>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 619639.2.1 | Iraq | Intellectual disability, severe; Poor speech; Seizure; Aggressive behavior | Male | Yes | Patient from 'family D' in the publication | |
| 619639.2.2 | Iraq | Male | Father of 619639.2.1 |