Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001128590.3:c.203-13C>G | 2 | |||
NM_001128590.3:c.754G>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
201910.23.1 | Lebanon | Congenital adrenal hyperplasia; Renal salt wasting; | Female | Yes | Yes | |
201910.23.2 | Lebanon | Congenital adrenal hyperplasia; Renal salt wasting; | Female | Yes | Yes | Sister of 201910.23.1 |