Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001029896.2:c.19C>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 300894.1 | United Arab Emirates | Global developmental delay; Seizure; Intellectual disability; Developmental regression; Sleep disturbance | Female | No | Yes | Father asymptomatic, but has mosaicism |