Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001282716.1:c.1945_1946CT[3] | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615723.1.2 | Lebanon | Primary amenorrhea; Pubertal developmental failure in females | Female | Yes | Yes | Sister of 615723.1.1 |
| 615723.1.3 | Lebanon | Male | Yes | Unaffected father of 615723.1.1 | ||
| 615723.1.4 | Lebanon | Female | Yes | Unaffected mother of 615723.1.1 |