264600.G.2

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 NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000348.4:c.164T>A6

Remarks

Large kindred with Pseudovaginal Perineoscrotal Hypospadias. 3 affected females studied
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