Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018129.4:c.674G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610090.1.2 | United Arab Emirates | Seizure; Global developmental delay; Behavioral abnormality | Female | Yes | Sister of 610090.1.1 |