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201910.30
Home
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.428T>A
NM_001128590.3:c.629T>A
NM_001128590.3:c.620T>A
NM_001128590.3:c.623T>A
Remarks
Carries the CL6 haplotype and an additional mutation
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Sex
Female
Parental Consanguinity
No
References
Delague et al, 2000
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