Female
No
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000497.3:c.1343G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 202010.2.01 | Morocco | Abnormal external genitalia ; Hypertension ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ; Increased serum testosterone level | Male | No | No | |
| 202010.2.02 | Morocco | Abnormal external genitalia ; Hypertension ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ; Increased serum testosterone level | Male | No | No | |
| 202010.2.03 | Morocco | Abnormal external genitalia ; Hypertension ; Elevated serum 11-deoxycortisol; | Male | No | No | |
| 202010.2.04 | Morocco | Abnormal external genitalia ; Hypertension ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ; Increased serum testosterone level | Female | No | No | |
| 202010.2.05 | Morocco | Abnormal external genitalia ; Hypertension ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ; Increased serum testosterone level | Female | No | Yes | |
| 202010.2.06 | Morocco | Abnormal external genitalia ; Hypertension ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ; Increased serum testosterone level | Male | No | No | |
| 202010.2.07 | Morocco | Abnormal external genitalia ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ; Increased serum testosterone level | Male | No | No | |
| 202010.2.08 | Morocco | Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ; | Male | No | No | |
| 202010.2.10 | Morocco | Hypertension ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ; | Male | No | No | |
| 202010.2.11 | Morocco | Abnormal external genitalia ; Hypertension ; Elevated serum 11-deoxycortisol; Increased circulating androstenedione concentration ; Increased serum testosterone level | Female | No | No |