Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024884.2:c.1015delA | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 236792.1.2 | Saudi Arabia | Global developmental delay | Male | Yes | Yes | Patient from family 'F5' in the publication |