Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000376.3:c.821G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277440.5.2 | United Arab Emirates | Male | Yes | Unaffected father of 277440.5.1 | ||
| 277440.5.3 | United Arab Emirates | Female | Yes | Unaffected mother of 277440.5.1 |