Female
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_139241.3:c.1325G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 609311.1.1 | Algeria | Male | No | Yes | ||
| 609311.1.2 | Algeria | Male | No | Unaffected father of 609311.1.1 |