Male
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000490.5:c.20C>T | 1 | |||
| NM_000490.5:c.121-2A>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 125700.1.2 | Lebanon | Male | No | Father of 125700.1.1 |