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264300.G.1
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Subject Details
Country
Palestine
HPO Terms
Ambiguous genitalia; Abnormal circulating androstenedione concentration; Decreased serum testosterone concentration
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Sex
Male
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000197.2:c.239G>A
42
17-Beta Hydroxysteroid Dehydrogenase III Deficiency
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Remarks
Group of 21 males from 9 extended Arab families.
References
Rosler, 2007
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