Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020547.3:c.1219C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 261550.2.01 | Saudi Arabia | Abnormality of male internal genitalia; Bilateral cryptorchidism | Male | Yes | Yes | Index patient |
| 261550.2.02 | Saudi Arabia | Abnormality of male internal genitalia; Bilateral cryptorchidism | Male | Yes | Yes | Brother of 261550.2.01 |
| 261550.2.03 | Saudi Arabia | Abnormality of male internal genitalia; Bilateral cryptorchidism | Male | Yes | Yes | Brother of 261550.2.01 |
| 261550.2.04 | Saudi Arabia | Abnormality of male internal genitalia; Unilateral cryptorchidism | Male | Yes | Yes | Brother of 261550.2.01 |
| 261550.2.05 | Saudi Arabia | Female | Yes | Yes | Sister of 261550.2.01 | |
| 261550.2.06 | Saudi Arabia | Female | Yes | Yes | Sister of 261550.2.01 | |
| 261550.2.07 | Saudi Arabia | Male | Yes | Yes | Brother of 261550.2.01 | |
| 261550.2.08 | Saudi Arabia | Male | Yes | Yes | Brother of 261550.2.01 | |
| 261550.2.09 | Saudi Arabia | Male | Yes | Father of 261550.2.01 |