Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024884.2:c.467G>T | 1 | NA | ||
| NM_024884.2:c.1319C>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 236792.2.1 | Saudi Arabia | Global developmental delay | Female | Yes | Yes | Patient from family 'F7' in the publication |
| 236792.2.2 | Saudi Arabia | Global developmental delay | Male | Yes | Yes | Patient from family 'F7' in the publication, brother of 236792.2.1 |
| 236792.2.4 | Saudi Arabia | Global developmental delay | Male | Yes | No | Patient from family 'F7' in the publication, half-sibling of 236792.2.1 |