Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018136.5:c.1138C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608716.14.2 | Saudi Arabia | Global developmental delay; Eczema | Female | Yes | Yes | Sibling of 608716.14.1 |