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201910.1.1
Home
Subject Details
Country
Egypt
HPO Terms
Ambiguous genitalia; Congenital adrenal hyperplasia; Renal salt wasting; Elevated circulating 17-hydroxyprogesterone;
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Sex
Female
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001128590.3:c.428T>A
2
Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
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References
Gad, 2002
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
201910.1.2
Egypt
;
Female
Mother of 201910.1.1
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