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300068.3
Home
Subject Details
Country
Egypt
HPO Terms
Ambiguous genitalia
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Sex
Male
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000044.4:c.2521C>A
1
Androgen Insensitivity Syndrome
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Remarks
XY individual reared as female, reassigned as male
References
Mazen et al. 2004
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