Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000218.2:c.387-5T>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 192500.1.2 | Saudi Arabia | Male | Yes | Father of 192500.1.1 | ||
| 192500.1.3 | Saudi Arabia | Female | Yes | Mother of 192500.1.1 |