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264600.G.2
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Subject Details
Country
Lebanon
HPO Terms
Decreased circulating luteinizing hormone level; Decreased circulating follicle stimulating hormone level; Increased serum estradiol; Increased serum testosterone level;
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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_000348.4:c.164T>A
6
Pseudovaginal Perineoscrotal Hypospadias
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Remarks
Large kindred with Pseudovaginal Perineoscrotal Hypospadias. 3 affected females studied
References
Hochberg et al. 1996
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