Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000475.4:c.1130A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 300200.1.1 | United Arab Emirates | Congenital adrenal hypoplasia; Death in infancy | Male | Yes | Yes | |
| 300200.1.3 | United Arab Emirates | Congenital adrenal hypoplasia | Male | Yes | Yes | First cousin of 300200.1.1 |
| 300200.1.4 | United Arab Emirates | Congenital adrenal hypoplasia; Death in infancy | Male | Yes | Yes | Uncle of 300200.1.1 |
| 300200.1.5 | United Arab Emirates | Congenital adrenal hypoplasia; Death in infancy; | Male | Yes | Yes | Uncle of 300200.1.1 |
| 300200.1.6 | United Arab Emirates | Congenital adrenal hypoplasia; ; | Male | Yes | Yes | First cousin, once removed, of 300200.1.1 |
| 300200.1.7 | United Arab Emirates | Congenital adrenal hypoplasia; ; | Male | Yes | Yes | First cousin, once removed, of 300200.1.1 |