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300068.2
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Subject Details
Country
Egypt
HPO Terms
Female external genitalia in individual with 46,XY karyotype; Glaucoma; Pyloric stenosis
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Sex
Female
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000044.4:c.2413T>C
1
Androgen Insensitivity Syndrome
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Remarks
XY individual reared as female
References
Gad et al. 2003
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