Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004750.5:c.527+5G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 272430.1.2 | United Arab Emirates | Male | No | Father of 272430.1.1 | ||
| 272430.1.3 | United Arab Emirates | Female | No | Mother of 272430.1.1 |