Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001128590.3:c.428T>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 201910.1.1 | Egypt | Ambiguous genitalia; Congenital adrenal hyperplasia; Renal salt wasting; Elevated circulating 17-hydroxyprogesterone; | Female | Yes | Yes |