Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000456.3:c.520del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 272300.1.2 | Saudi Arabia | Male | No | Yes | Father of 272300.1.1 | |
| 272300.1.3 | Saudi Arabia | Female | No | Yes | Mother of 272300.1.1 |