Unknown
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_138694.3:c.3539G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 263200.4.2 | Saudi Arabia | Female | Mother of 263200.4.1 | |||
| 263200.4.3 | Saudi Arabia | Male | Father of 263200.4.1 |