Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000475.4:c.857_862del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 300200.2.1 | Oman | Congenital adrenal hypoplasia; ; | Male | Yes | Yes | |
| 300200.2.2 | Oman | Congenital adrenal hypoplasia; ; | Male | Yes | Yes | Brother of 300200.2.1 |
| 300200.2.3 | Oman | Congenital adrenal hypoplasia; ; | Male | Yes | Yes | Brother of 300200.2.1 |