201910.1.1

Country

Egypt

HPO Terms

Ambiguous genitalia; Congenital adrenal hyperplasia; Renal salt wasting; Elevated circulating 17-hydroxyprogesterone;
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001128590.3:c.428T>A2

References

  • Gad, 2002

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
201910.1.2Egypt;FemaleMother of 201910.1.1
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