Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001673.5:c.1193A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615574.8.1 | Saudi Arabia | Seizure; EEG abnormality ; Severe global developmental delay | Female | Yes | No |