Female
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018026.3:c.607C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615009.1 | United Arab Emirates | Global developmental delay; Seizure; Intellectual disability; Abnormal heart morphology | Male | No | Yes | de novo mutation |