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201910.31.1
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Subject Details
Country
Lebanon
HPO Terms
Congenital adrenal hyperplasia; Ambiguous genitalia, female; ; ;
Associated Disease
Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
Variants
NM_001128590.3:c.242_249delGAGACTAC
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Sex
Female
Family History
Yes
Parental Consanguinity
No
References
Delague et al, 2000
Related Subjects
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
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