Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004646.3:c.1170+2T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 256300.3.2 | Tunisia | Death in infancy | Male | Yes | Yes | Brother of 256300.3.1 |