Female
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001128590.3:c.242_249delGAGACTAC | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
201910.31.2 | Lebanon | Congenital adrenal hyperplasia; Ambiguous genitalia, female; ; ; | Female | Yes | No | Sibling of 201910.31.1 |