Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000044.3:c.1617-3C>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 300068.6.1 | Lebanon | Female external genitalia in individual with 46,XY karyotype; Absent pubic hair; Thoracic kyphosis; Bimanual synkinesia; Anosmia; | Female | Yes | Yes | Sibling of 300068.6.2 |