Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003647.2:c.325A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615008.2.1 | United Arab Emirates | Hypertension; Acute kidney injury; Hemolytic-uremic syndrome; Stage 5 chronic kidney disease; Abnormal left ventricular function | Male | Yes | Yes | The patient had an additional affected sibling who died in early childhood due to Hemolytic-uremic syndrome |