Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001128590.3:c.242_249delGAGACTAC | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 201910.22.2 | Lebanon | Congenital adrenal hyperplasia; Renal salt wasting; | Female | Yes | Yes | Sister of 201910.22.1 |