Female
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000497.3:c.1210dup | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 202010.1.1 | Lebanon | Clitoral hypertrophy ; Abnormal labia morphology ; Elevated serum 11-deoxycortisol ; Elevated circulating 17-hydroxyprogesterone; Increased serum testosterone level; Hypertension | Female | Yes | Yes | Proband |